PRC2A_HUMAN
ID PRC2A_HUMAN Reviewed; 2157 AA.
AC P48634; B0UX77; B0UZE9; B0UZL3; O95875; Q05BK4; Q4LE37; Q5SQ29; Q5SQ30;
AC Q5ST84; Q5STX6; Q5STX7; Q68DW9; Q6P9P7; Q6PIN1; Q8MGQ9; Q96QC6;
DT 01-FEB-1996, integrated into UniProtKB/Swiss-Prot.
DT 18-MAY-2010, sequence version 3.
DT 03-AUG-2022, entry version 185.
DE RecName: Full=Protein PRRC2A;
DE AltName: Full=HLA-B-associated transcript 2;
DE AltName: Full=Large proline-rich protein BAT2;
DE AltName: Full=Proline-rich and coiled-coil-containing protein 2A;
DE AltName: Full=Protein G2;
GN Name=PRRC2A; Synonyms=BAT2, G2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 2), AND VARIANTS ARG-57;
RP GLU-742; PRO-1503 AND VAL-1895.
RC TISSUE=T-cell;
RX PubMed=2156268; DOI=10.1073/pnas.87.6.2374;
RA Banerji J., Sands J., Strominger J.L., Spies T.;
RT "A gene pair from the human major histocompatibility complex encodes large
RT proline-rich proteins with multiple repeated motifs and a single ubiquitin-
RT like domain.";
RL Proc. Natl. Acad. Sci. U.S.A. 87:2374-2378(1990).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4), AND VARIANTS LEU-106;
RP LYS-544; PRO-1503 AND VAL-1895.
RC TISSUE=Brain;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANTS LYS-544;
RP ALA-1285; PRO-1503; HIS-1740; VAL-1895 AND LEU-2130.
RX PubMed=14656967; DOI=10.1101/gr.1736803;
RA Xie T., Rowen L., Aguado B., Ahearn M.E., Madan A., Qin S., Campbell R.D.,
RA Hood L.;
RT "Analysis of the gene-dense major histocompatibility complex class III
RT region and its comparison to mouse.";
RL Genome Res. 13:2621-2636(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANTS LYS-544;
RP PRO-1503 AND VAL-1895.
RA Shiina S., Tamiya G., Oka A., Inoko H.;
RT "Homo sapiens 2,229,817bp genomic DNA of 6p21.3 HLA class I region.";
RL Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANTS LEU-106;
RP LYS-544; PRO-1503; HIS-1740; VAL-1895 AND SER-2006.
RX PubMed=14574404; DOI=10.1038/nature02055;
RA Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L.,
RA Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R.,
RA Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D.,
RA Andrews T.D., Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H.,
RA Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V.,
RA Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J.,
RA Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E.,
RA Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J.,
RA French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J.,
RA Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C.,
RA Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A.,
RA Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R.,
RA Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M.,
RA Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K.,
RA Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R.,
RA Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M.,
RA Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A.,
RA Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L.,
RA Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I.,
RA Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y.,
RA Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E.,
RA Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A.,
RA Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W.,
RA Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M.,
RA West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J.,
RA Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M.,
RA Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I.,
RA Rogers J., Beck S.;
RT "The DNA sequence and analysis of human chromosome 6.";
RL Nature 425:805-811(2003).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANTS LYS-544;
RP PRO-1503; HIS-1740 AND VAL-1895.
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS CYS-477;
RP LYS-544; PRO-1503 AND VAL-1895.
RC TISSUE=Lymph, Placenta, and Uterus;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [8]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-1874 (ISOFORM 3), AND VARIANTS
RP LYS-544; LYS-694; ALA-1415; PRO-1503 AND ALA-1744.
RX PubMed=8499947; DOI=10.1038/ng0293-137;
RA Iris F.J.M., Bougueleret L., Prieur S., Caterina D., Primas G., Perrot V.,
RA Jurka J., Rodriguez-Tome P., Claverie J.-M., Dausset J., Cohen D.;
RT "Dense Alu clustering and a potential new member of the NF kappa B family
RT within a 90 kilobase HLA class III segment.";
RL Nat. Genet. 3:137-145(1993).
RN [9]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 871-2157 (ISOFORM 1), AND
RP VARIANTS PRO-1503 AND VAL-1895.
RC TISSUE=Uterine endothelium;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D.,
RA Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A.,
RA Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [10]
RP FUNCTION.
RX PubMed=14667819; DOI=10.1016/s0888-7543(03)00235-0;
RA Lehner B., Semple J.I., Brown S.E., Counsell D., Campbell R.D.,
RA Sanderson C.M.;
RT "Analysis of a high-throughput yeast two-hybrid system and its use to
RT predict the function of intracellular proteins encoded within the human MHC
RT class III region.";
RL Genomics 83:153-167(2004).
RN [11]
RP SUBCELLULAR LOCATION, AND DEVELOPMENTAL STAGE.
RX PubMed=15752841; DOI=10.1016/j.vaccine.2004.08.003;
RA Schneiders A., Thiel S., Winkler J., Moeller P., Koch N.;
RT "Antibodies generated by a novel DNA vaccination identify the MHC class III
RT encoded BAT2 polypeptide.";
RL Vaccine 23:2540-2550(2005).
RN [12]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-342 AND SER-350, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=17081983; DOI=10.1016/j.cell.2006.09.026;
RA Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M.;
RT "Global, in vivo, and site-specific phosphorylation dynamics in signaling
RT networks.";
RL Cell 127:635-648(2006).
RN [13]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18220336; DOI=10.1021/pr0705441;
RA Cantin G.T., Yi W., Lu B., Park S.K., Xu T., Lee J.-D., Yates J.R. III;
RT "Combining protein-based IMAC, peptide-based IMAC, and MudPIT for efficient
RT phosphoproteomic analysis.";
RL J. Proteome Res. 7:1346-1351(2008).
RN [14]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1219, AND IDENTIFICATION BY
RP MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Platelet;
RX PubMed=18088087; DOI=10.1021/pr0704130;
RA Zahedi R.P., Lewandrowski U., Wiesner J., Wortelkamp S., Moebius J.,
RA Schuetz C., Walter U., Gambaryan S., Sickmann A.;
RT "Phosphoproteome of resting human platelets.";
RL J. Proteome Res. 7:526-534(2008).
RN [15]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-380; SER-383; SER-456;
RP THR-610; SER-759; SER-761; SER-764; SER-1085; SER-1089; SER-1092; TYR-1094;
RP SER-1147 AND SER-1306, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE
RP ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [16]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19413330; DOI=10.1021/ac9004309;
RA Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.;
RT "Lys-N and trypsin cover complementary parts of the phosphoproteome in a
RT refined SCX-based approach.";
RL Anal. Chem. 81:4493-4501(2009).
RN [17]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-380; SER-456; THR-610;
RP SER-761 AND SER-1089, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE
RP ANALYSIS].
RC TISSUE=Leukemic T-cell;
RX PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA Rodionov V., Han D.K.;
RT "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT reveals system-wide modulation of protein-protein interactions.";
RL Sci. Signal. 2:RA46-RA46(2009).
RN [18]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-27 AND LYS-1196, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19608861; DOI=10.1126/science.1175371;
RA Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C.,
RA Olsen J.V., Mann M.;
RT "Lysine acetylation targets protein complexes and co-regulates major
RT cellular functions.";
RL Science 325:834-840(2009).
RN [19]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-380; SER-808; SER-1219;
RP THR-1353 AND SER-2113, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE
RP ANALYSIS].
RC TISSUE=Cervix carcinoma;
RX PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S., Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full phosphorylation
RT site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
RN [20]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [21]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-342; SER-350; SER-380;
RP SER-1110 AND SER-1219, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE
RP ANALYSIS].
RX PubMed=21406692; DOI=10.1126/scisignal.2001570;
RA Rigbolt K.T., Prokhorova T.A., Akimov V., Henningsen J., Johansen P.T.,
RA Kratchmarova I., Kassem M., Mann M., Olsen J.V., Blagoev B.;
RT "System-wide temporal characterization of the proteome and phosphoproteome
RT of human embryonic stem cell differentiation.";
RL Sci. Signal. 4:RS3-RS3(2011).
RN [22]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-18; SER-19; SER-30; SER-146;
RP SER-166; SER-204; SER-342; SER-350; SER-363; SER-380; SER-383; SER-456;
RP SER-761; SER-764; SER-908; SER-932; SER-1004; THR-1083; SER-1085; SER-1089;
RP SER-1092; SER-1106; SER-1110; SER-1120; SER-1147; SER-1219; SER-1306;
RP THR-1347; SER-1384; SER-1386; SER-1525; SER-1778; SER-2036; THR-2076;
RP SER-2082 AND SER-2113, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE
RP ANALYSIS].
RC TISSUE=Cervix carcinoma, and Erythroleukemia;
RX PubMed=23186163; DOI=10.1021/pr300630k;
RA Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA Mohammed S.;
RT "Toward a comprehensive characterization of a human cancer cell
RT phosphoproteome.";
RL J. Proteome Res. 12:260-271(2013).
RN [23]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-363; SER-908; SER-1219 AND
RP SER-1328, AND IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
RN [24]
RP METHYLATION [LARGE SCALE ANALYSIS] AT ARG-272 AND ARG-296, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Colon carcinoma;
RX PubMed=24129315; DOI=10.1074/mcp.o113.027870;
RA Guo A., Gu H., Zhou J., Mulhern D., Wang Y., Lee K.A., Yang V., Aguiar M.,
RA Kornhauser J., Jia X., Ren J., Beausoleil S.A., Silva J.C., Vemulapalli V.,
RA Bedford M.T., Comb M.J.;
RT "Immunoaffinity enrichment and mass spectrometry analysis of protein
RT methylation.";
RL Mol. Cell. Proteomics 13:372-387(2014).
RN [25]
RP VARIANTS [LARGE SCALE ANALYSIS] ILE-1087 AND HIS-1152.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
CC -!- FUNCTION: May play a role in the regulation of pre-mRNA splicing.
CC {ECO:0000269|PubMed:14667819}.
CC -!- INTERACTION:
CC P48634; P54253: ATXN1; NbExp=4; IntAct=EBI-347545, EBI-930964;
CC P48634; P05412: JUN; NbExp=2; IntAct=EBI-347545, EBI-852823;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15752841}. Nucleus
CC {ECO:0000269|PubMed:15752841}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=P48634-1; Sequence=Displayed;
CC Name=2;
CC IsoId=P48634-2; Sequence=VSP_015099, VSP_015100, VSP_015101,
CC VSP_015102;
CC Name=3;
CC IsoId=P48634-3; Sequence=VSP_015100, VSP_015101, VSP_015102;
CC Name=4;
CC IsoId=P48634-4; Sequence=VSP_030865;
CC -!- TISSUE SPECIFICITY: Limited to cell-lines of leukemic origin.
CC -!- DEVELOPMENTAL STAGE: Broadly expressed during the 11th week of
CC gestation, with highest levels in the central nervous system, spinal
CC ganglia, osteoblasts and osteocytes (at protein level).
CC {ECO:0000269|PubMed:15752841}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAA35585.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=AAA35586.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=BAE06116.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=CAA78744.1; Type=Frameshift; Evidence={ECO:0000305};
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DR EMBL; M33509; AAA35585.1; ALT_FRAME; mRNA.
DR EMBL; M33518; AAA35586.1; ALT_FRAME; Genomic_DNA.
DR EMBL; M33512; AAA35586.1; JOINED; Genomic_DNA.
DR EMBL; AB210034; BAE06116.1; ALT_INIT; mRNA.
DR EMBL; AF129756; AAD18086.1; -; Genomic_DNA.
DR EMBL; CR354443; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BA000025; BAB63391.1; -; Genomic_DNA.
DR EMBL; AL662801; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL662847; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL805934; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BX511262; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CR753892; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CR759761; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471081; EAX03452.1; -; Genomic_DNA.
DR EMBL; BC030127; AAH30127.1; -; mRNA.
DR EMBL; BC032134; AAH32134.1; -; mRNA.
DR EMBL; BC042295; AAH42295.1; -; mRNA.
DR EMBL; BC060668; AAH60668.1; -; mRNA.
DR EMBL; Z15025; CAA78744.1; ALT_FRAME; Genomic_DNA.
DR EMBL; CR749245; CAH18101.1; -; mRNA.
DR CCDS; CCDS4708.1; -. [P48634-1]
DR PIR; B35098; B35098.
DR PIR; S37671; S37671.
DR RefSeq; NP_004629.3; NM_004638.3. [P48634-1]
DR RefSeq; NP_542417.2; NM_080686.2. [P48634-1]
DR AlphaFoldDB; P48634; -.
DR SMR; P48634; -.
DR BioGRID; 113646; 337.
DR IntAct; P48634; 84.
DR MINT; P48634; -.
DR STRING; 9606.ENSP00000365201; -.
DR GlyGen; P48634; 2 sites, 1 O-linked glycan (2 sites).
DR iPTMnet; P48634; -.
DR MetOSite; P48634; -.
DR PhosphoSitePlus; P48634; -.
DR SwissPalm; P48634; -.
DR BioMuta; PRRC2A; -.
DR DMDM; 296439424; -.
DR EPD; P48634; -.
DR jPOST; P48634; -.
DR MassIVE; P48634; -.
DR MaxQB; P48634; -.
DR PaxDb; P48634; -.
DR PeptideAtlas; P48634; -.
DR PRIDE; P48634; -.
DR ProteomicsDB; 55913; -. [P48634-1]
DR ProteomicsDB; 55914; -. [P48634-2]
DR ProteomicsDB; 55915; -. [P48634-3]
DR ProteomicsDB; 55916; -. [P48634-4]
DR Antibodypedia; 62364; 11 antibodies from 7 providers.
DR DNASU; 7916; -.
DR Ensembl; ENST00000376007.8; ENSP00000365175.4; ENSG00000204469.13. [P48634-1]
DR Ensembl; ENST00000376033.3; ENSP00000365201.2; ENSG00000204469.13. [P48634-1]
DR Ensembl; ENST00000383455.2; ENSP00000372947.2; ENSG00000206427.11.
DR Ensembl; ENST00000383464.8; ENSP00000372956.4; ENSG00000206427.11.
DR Ensembl; ENST00000414956.1; ENSP00000404619.1; ENSG00000226618.9.
DR Ensembl; ENST00000416335.1; ENSP00000415182.1; ENSG00000231370.9.
DR Ensembl; ENST00000422962.1; ENSP00000415363.1; ENSG00000231825.9.
DR Ensembl; ENST00000428775.1; ENSP00000387910.1; ENSG00000225164.9.
DR Ensembl; ENST00000430737.6; ENSP00000413977.2; ENSG00000231825.9.
DR Ensembl; ENST00000432252.1; ENSP00000408226.1; ENSG00000225748.9.
DR Ensembl; ENST00000435971.6; ENSP00000409444.2; ENSG00000225164.9.
DR Ensembl; ENST00000439762.6; ENSP00000400540.2; ENSG00000231370.9.
DR Ensembl; ENST00000454306.6; ENSP00000387477.2; ENSG00000225748.9.
DR Ensembl; ENST00000458561.6; ENSP00000396812.2; ENSG00000226618.9.
DR GeneID; 7916; -.
DR KEGG; hsa:7916; -.
DR MANE-Select; ENST00000376033.3; ENSP00000365201.2; NM_004638.4; NP_004629.3.
DR UCSC; uc003nvb.5; human. [P48634-1]
DR CTD; 7916; -.
DR DisGeNET; 7916; -.
DR GeneCards; PRRC2A; -.
DR HGNC; HGNC:13918; PRRC2A.
DR HPA; ENSG00000204469; Low tissue specificity.
DR MIM; 142580; gene.
DR neXtProt; NX_P48634; -.
DR OpenTargets; ENSG00000204469; -.
DR PharmGKB; PA25263; -.
DR VEuPathDB; HostDB:ENSG00000204469; -.
DR eggNOG; KOG4817; Eukaryota.
DR GeneTree; ENSGT00950000183161; -.
DR HOGENOM; CLU_001247_1_0_1; -.
DR InParanoid; P48634; -.
DR OMA; QFGTNDK; -.
DR PhylomeDB; P48634; -.
DR TreeFam; TF328738; -.
DR PathwayCommons; P48634; -.
DR SignaLink; P48634; -.
DR BioGRID-ORCS; 7916; 366 hits in 1092 CRISPR screens.
DR ChiTaRS; PRRC2A; human.
DR GeneWiki; BAT2; -.
DR GenomeRNAi; 7916; -.
DR Pharos; P48634; Tbio.
DR PRO; PR:P48634; -.
DR Proteomes; UP000005640; Chromosome 6.
DR RNAct; P48634; protein.
DR Bgee; ENSG00000204469; Expressed in right testis and 92 other tissues.
DR ExpressionAtlas; P48634; baseline and differential.
DR Genevisible; P48634; HS.
DR GO; GO:0005829; C:cytosol; IDA:HPA.
DR GO; GO:0070062; C:extracellular exosome; HDA:UniProtKB.
DR GO; GO:0016020; C:membrane; HDA:UniProtKB.
DR GO; GO:0005654; C:nucleoplasm; IDA:HPA.
DR GO; GO:0005886; C:plasma membrane; IDA:HPA.
DR GO; GO:0003723; F:RNA binding; HDA:UniProtKB.
DR GO; GO:0030154; P:cell differentiation; IBA:GO_Central.
DR InterPro; IPR009738; BAT2_N.
DR InterPro; IPR033184; PRRC2.
DR PANTHER; PTHR14038; PTHR14038; 1.
DR Pfam; PF07001; BAT2_N; 1.
PE 1: Evidence at protein level;
KW Acetylation; Alternative splicing; Cytoplasm; Methylation; Nucleus;
KW Phosphoprotein; Reference proteome; Repeat.
FT CHAIN 1..2157
FT /note="Protein PRRC2A"
FT /id="PRO_0000064829"
FT REPEAT 41..95
FT /note="1-1"
FT REPEAT 98..154
FT /note="1-2"
FT REPEAT 281..336
FT /note="1-3"
FT REPEAT 337..430
FT /note="2-1"
FT REPEAT 488..561
FT /note="2-2"
FT REPEAT 1757..1812
FT /note="1-4"
FT REPEAT 1916..1965
FT /note="3-1"
FT REPEAT 1982..2031
FT /note="3-2"
FT REPEAT 2057..2106
FT /note="3-3"
FT REGION 1..20
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 41..1812
FT /note="4 X 57 AA type A repeats"
FT REGION 49..713
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 337..561
FT /note="2 X type B repeats"
FT REGION 740..1775
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1806..1874
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 1916..2106
FT /note="3 X 50 AA type C repeats"
FT REGION 2062..2093
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 2112..2157
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 86..121
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 191..209
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 212..231
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 237..277
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 306..345
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 352..375
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 399..421
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 438..454
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 463..503
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 511..556
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 557..588
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 594..615
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 644..671
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 672..713
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 824..868
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 939..964
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 966..984
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1046..1065
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1086..1123
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1134..1149
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1180..1210
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1235..1270
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1306..1325
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1445..1460
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1471..1491
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1503..1517
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1555..1570
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1642..1670
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1711..1725
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1808..1825
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 1840..1856
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 2132..2148
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 18
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 19
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 27
FT /note="N6-acetyllysine"
FT /evidence="ECO:0007744|PubMed:19608861"
FT MOD_RES 30
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 35
FT /note="N6-acetyllysine"
FT /evidence="ECO:0000250|UniProtKB:Q7TSC1"
FT MOD_RES 146
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 166
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 204
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 272
FT /note="Asymmetric dimethylarginine"
FT /evidence="ECO:0007744|PubMed:24129315"
FT MOD_RES 296
FT /note="Omega-N-methylarginine"
FT /evidence="ECO:0007744|PubMed:24129315"
FT MOD_RES 342
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:17081983,
FT ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163"
FT MOD_RES 350
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:17081983,
FT ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163"
FT MOD_RES 363
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163,
FT ECO:0007744|PubMed:24275569"
FT MOD_RES 380
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648,
FT ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:20068231,
FT ECO:0007744|PubMed:21406692, ECO:0007744|PubMed:23186163"
FT MOD_RES 383
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648,
FT ECO:0007744|PubMed:23186163"
FT MOD_RES 456
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648,
FT ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163"
FT MOD_RES 610
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:18669648,
FT ECO:0007744|PubMed:19690332"
FT MOD_RES 759
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648"
FT MOD_RES 761
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648,
FT ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163"
FT MOD_RES 764
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648,
FT ECO:0007744|PubMed:23186163"
FT MOD_RES 807
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:Q7TSC1"
FT MOD_RES 808
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:20068231"
FT MOD_RES 904
FT /note="Omega-N-methylarginine"
FT /evidence="ECO:0000250|UniProtKB:Q7TSC1"
FT MOD_RES 908
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163,
FT ECO:0007744|PubMed:24275569"
FT MOD_RES 932
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 997
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:Q7TSC1"
FT MOD_RES 1004
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 1066
FT /note="Omega-N-methylarginine"
FT /evidence="ECO:0000250|UniProtKB:Q7TSC1"
FT MOD_RES 1083
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 1085
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648,
FT ECO:0007744|PubMed:23186163"
FT MOD_RES 1089
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648,
FT ECO:0007744|PubMed:19690332, ECO:0007744|PubMed:23186163"
FT MOD_RES 1092
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648,
FT ECO:0007744|PubMed:23186163"
FT MOD_RES 1094
FT /note="Phosphotyrosine"
FT /evidence="ECO:0007744|PubMed:18669648"
FT MOD_RES 1106
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 1110
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:21406692,
FT ECO:0007744|PubMed:23186163"
FT MOD_RES 1120
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 1147
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648,
FT ECO:0007744|PubMed:23186163"
FT MOD_RES 1196
FT /note="N6-acetyllysine"
FT /evidence="ECO:0007744|PubMed:19608861"
FT MOD_RES 1219
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18088087,
FT ECO:0007744|PubMed:20068231, ECO:0007744|PubMed:21406692,
FT ECO:0007744|PubMed:23186163, ECO:0007744|PubMed:24275569"
FT MOD_RES 1306
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:18669648,
FT ECO:0007744|PubMed:23186163"
FT MOD_RES 1310
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q7TSC1"
FT MOD_RES 1323
FT /note="Phosphothreonine"
FT /evidence="ECO:0000250|UniProtKB:Q7TSC1"
FT MOD_RES 1325
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:Q7TSC1"
FT MOD_RES 1328
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:24275569"
FT MOD_RES 1347
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 1353
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:20068231"
FT MOD_RES 1384
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 1386
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 1525
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 1778
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 2036
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 2076
FT /note="Phosphothreonine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 2082
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:23186163"
FT MOD_RES 2113
FT /note="Phosphoserine"
FT /evidence="ECO:0007744|PubMed:20068231,
FT ECO:0007744|PubMed:23186163"
FT VAR_SEQ 413..424
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:2156268"
FT /id="VSP_015099"
FT VAR_SEQ 834..1457
FT /note="Missing (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_030865"
FT VAR_SEQ 1050..1148
FT /note="RSREFRSYREFRGDDGRGGGTGGPNHPPAPRGRTASETRSEGSEYEEIPKRR
FT RQRGSETGSETHESDLAPSDKEAPTPKEGTLTQVPLAPPPPGAPPSP -> QANSAVTE
FT SFEEMMGVEVGQGDQTTLLLPEAAMPARHGARVQSMRKSPSGAGSGAQKQAARPMRVIW
FT LLQTRRLPHPRREHSPRSSRSPTTRSPTLHR (in isoform 2 and isoform
FT 3)"
FT /evidence="ECO:0000303|PubMed:2156268"
FT /id="VSP_015100"
FT VAR_SEQ 1155..1177
FT /note="ARGGRVFTPRGVPSRRGRGGGRP -> CPGVGESSLPEGAISPGPRRREA
FT (in isoform 2 and isoform 3)"
FT /evidence="ECO:0000303|PubMed:2156268"
FT /id="VSP_015101"
FT VAR_SEQ 1852..1864
FT /note="AMDSQLHPNSGGF -> SHGLSITSKQWRL (in isoform 2 and
FT isoform 3)"
FT /evidence="ECO:0000303|PubMed:2156268"
FT /id="VSP_015102"
FT VARIANT 57
FT /note="P -> R (in dbSNP:rs1062968)"
FT /evidence="ECO:0000269|PubMed:2156268"
FT /id="VAR_023215"
FT VARIANT 82
FT /note="D -> V (in dbSNP:rs6921213)"
FT /id="VAR_045992"
FT VARIANT 106
FT /note="P -> L (in dbSNP:rs2280801)"
FT /evidence="ECO:0000269|PubMed:14574404,
FT ECO:0000269|PubMed:14702039"
FT /id="VAR_023216"
FT VARIANT 477
FT /note="R -> C (in dbSNP:rs17857493)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_045993"
FT VARIANT 544
FT /note="T -> K (in dbSNP:rs1046080)"
FT /evidence="ECO:0000269|PubMed:14574404,
FT ECO:0000269|PubMed:14656967, ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:8499947,
FT ECO:0000269|Ref.4, ECO:0000269|Ref.6"
FT /id="VAR_023217"
FT VARIANT 694
FT /note="Q -> K (in dbSNP:rs2844469)"
FT /evidence="ECO:0000269|PubMed:8499947"
FT /id="VAR_023218"
FT VARIANT 742
FT /note="D -> E (in dbSNP:rs1046081)"
FT /evidence="ECO:0000269|PubMed:2156268"
FT /id="VAR_023219"
FT VARIANT 804
FT /note="R -> C (in dbSNP:rs11538262)"
FT /id="VAR_045994"
FT VARIANT 1087
FT /note="T -> I (in a breast cancer sample; somatic mutation;
FT dbSNP:rs771808977)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035796"
FT VARIANT 1152
FT /note="R -> H (in a breast cancer sample; somatic mutation;
FT dbSNP:rs151148973)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_035797"
FT VARIANT 1285
FT /note="G -> A (in dbSNP:rs2736158)"
FT /evidence="ECO:0000269|PubMed:14656967"
FT /id="VAR_023220"
FT VARIANT 1407
FT /note="S -> N (in dbSNP:rs35464047)"
FT /id="VAR_045995"
FT VARIANT 1415
FT /note="G -> A (in dbSNP:rs2857703)"
FT /evidence="ECO:0000269|PubMed:8499947"
FT /id="VAR_023221"
FT VARIANT 1503
FT /note="L -> P (in dbSNP:rs2272593)"
FT /evidence="ECO:0000269|PubMed:14574404,
FT ECO:0000269|PubMed:14656967, ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005,
FT ECO:0000269|PubMed:2156268, ECO:0000269|PubMed:8499947,
FT ECO:0000269|Ref.4, ECO:0000269|Ref.6"
FT /id="VAR_023222"
FT VARIANT 1544
FT /note="G -> D (in dbSNP:rs34175432)"
FT /id="VAR_045996"
FT VARIANT 1563
FT /note="R -> Q (in dbSNP:rs11538263)"
FT /id="VAR_045997"
FT VARIANT 1740
FT /note="R -> H (in dbSNP:rs1046089)"
FT /evidence="ECO:0000269|PubMed:14574404,
FT ECO:0000269|PubMed:14656967, ECO:0000269|Ref.6"
FT /id="VAR_023223"
FT VARIANT 1744
FT /note="G -> A (in dbSNP:rs2844491)"
FT /evidence="ECO:0000269|PubMed:8499947"
FT /id="VAR_023224"
FT VARIANT 1774
FT /note="V -> M (in dbSNP:rs11538264)"
FT /id="VAR_045998"
FT VARIANT 1775
FT /note="V -> M (in dbSNP:rs11538264)"
FT /id="VAR_023225"
FT VARIANT 1895
FT /note="L -> V (in dbSNP:rs3132453)"
FT /evidence="ECO:0000269|PubMed:14574404,
FT ECO:0000269|PubMed:14656967, ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:17974005,
FT ECO:0000269|PubMed:2156268, ECO:0000269|Ref.4,
FT ECO:0000269|Ref.6"
FT /id="VAR_023226"
FT VARIANT 2006
FT /note="P -> S (in dbSNP:rs10885)"
FT /evidence="ECO:0000269|PubMed:14574404"
FT /id="VAR_023227"
FT VARIANT 2075
FT /note="R -> W (in dbSNP:rs34137317)"
FT /id="VAR_056742"
FT VARIANT 2130
FT /note="P -> L (in dbSNP:rs1046756)"
FT /evidence="ECO:0000269|PubMed:14656967"
FT /id="VAR_023228"
FT CONFLICT 57
FT /note="P -> A (in Ref. 8; CAA78744)"
FT /evidence="ECO:0000305"
FT CONFLICT 107..123
FT /note="ESQPLPASQTPASNQPK -> NRTTAGFTDACLQPAE (in Ref. 8;
FT CAA78744)"
FT /evidence="ECO:0000305"
FT CONFLICT 762
FT /note="G -> L (in Ref. 1; AAA35585/AAA35586)"
FT /evidence="ECO:0000305"
FT CONFLICT 762
FT /note="G -> R (in Ref. 8; CAA78744)"
FT /evidence="ECO:0000305"
FT CONFLICT 764
FT /note="S -> L (in Ref. 1; AAA35585/AAA35586 and 8;
FT CAA78744)"
FT /evidence="ECO:0000305"
FT CONFLICT 846
FT /note="A -> T (in Ref. 8; CAA78744)"
FT /evidence="ECO:0000305"
FT CONFLICT 902..911
FT /note="PARGVGSGGQ -> LPASRSGA (in Ref. 1; AAA35585/AAA35586
FT and 8; CAA78744)"
FT /evidence="ECO:0000305"
FT CONFLICT 934
FT /note="R -> G (in Ref. 7; AAH42295)"
FT /evidence="ECO:0000305"
FT CONFLICT 1049
FT /note="A -> G (in Ref. 1; AAA35585/AAA35586)"
FT /evidence="ECO:0000305"
FT CONFLICT 1300
FT /note="R -> P (in Ref. 1; AAA35585/AAA35586)"
FT /evidence="ECO:0000305"
FT CONFLICT 1461
FT /note="Missing (in Ref. 8; CAA78744)"
FT /evidence="ECO:0000305"
FT CONFLICT 1626
FT /note="S -> T (in Ref. 1; AAA35585/AAA35586)"
FT /evidence="ECO:0000305"
FT CONFLICT P48634-3:1082
FT /note="M -> L (in Ref. 8; CAA78744)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 2157 AA; 228863 MW; 7353342E72F0D393 CRC64;
MSDRSGPTAK GKDGKKYSSL NLFDTYKGKS LEIQKPAVAP RHGLQSLGKV AIARRMPPPA
NLPSLKAENK GNDPNVSLVP KDGTGWASKQ EQSDPKSSDA STAQPPESQP LPASQTPASN
QPKRPPAAPE NTPLVPSGVK SWAQASVTHG AHGDGGRASS LLSRFSREEF PTLQAAGDQD
KAAKERESAE QSSGPGPSLR PQNSTTWRDG GGRGPDELEG PDSKLHHGHD PRGGLQPSGP
PQFPPYRGMM PPFMYPPYLP FPPPYGPQGP YRYPTPDGPS RFPRVAGPRG SGPPMRLVEP
VGRPSILKED NLKEFDQLDQ ENDDGWAGAH EEVDYTEKLK FSDEEDGRDS DEEGAEGHRD
SQSASGEERP PEADGKKGNS PNSEPPTPKT AWAETSRPPE TEPGPPAPKP PLPPPHRGPA
GNWGPPGDYP DRGGPPCKPP APEDEDEAWR QRRKQSSSEI SLAVERARRR REEEERRMQE
ERRAACAEKL KRLDEKFGAP DKRLKAEPAA PPAAPSTPAP PPAVPKELPA PPAPPPASAP
TPETEPEEPA QAPPAQSTPT PGVAAAPTLV SGGGSTSSTS SGSFEASPVE PQLPSKEGPE
PPEEVPPPTT PPVPKVEPKG DGIGPTRQPP SQGLGYPKYQ KSLPPRFQRQ QQEQLLKQQQ
QHQWQQHQQG SAPPTPVPPS PPQPVTLGAV PAPQAPPPPP KALYPGALGR PPPMPPMNFD
PRWMMIPPYV DPRLLQGRPP LDFYPPGVHP SGLVPRERSD SGGSSSEPFD RHAPAMLRER
GTPPVDPKLA WVGDVFTATP AEPRPLTSPL RQAADEDDKG MRSETPPVPP PPPYLASYPG
FPENGAPGPP ISRFPLEEPG PRPLPWPPGS DEVAKIQTPP PKKEPPKEET AQLTGPEAGR
KPARGVGSGG QGPPPPRRES RTETRWGPRP GSSRRGIPPE EPGAPPRRAG PIKKPPPPTK
VEELPPKPLE QGDETPKPPK PDPLKITKGK LGGPKETPPN GNLSPAPRLR RDYSYERVGP
TSCRGRGRGE YFARGRGFRG TYGGRGRGAR SREFRSYREF RGDDGRGGGT GGPNHPPAPR
GRTASETRSE GSEYEEIPKR RRQRGSETGS ETHESDLAPS DKEAPTPKEG TLTQVPLAPP
PPGAPPSPAP ARFTARGGRV FTPRGVPSRR GRGGGRPPPQ VCPGWSPPAK SLAPKKPPTG
PLPPSKEPLK EKLIPGPLSP VARGGSNGGS NVGMEDGERP RRRRHGRAQQ QDKPPRFRRL
KQERENAARG SEGKPSLTLP ASAPGPEEAL TTVTVAPAPR RAAAKSPDLS NQNSDQANEE
WETASESSDF TSERRGDKEA PPPVLLTPKA VGTPGGGGGG AVPGISAMSR GDLSQRAKDL
SKRSFSSQRP GMERQNRRPG PGGKAGSSGS SSGGGGGGPG GRTGPGRGDK RSWPSPKNRS
RPPEERPPGL PLPPPPPSSS AVFRLDQVIH SNPAGIQQAL AQLSSRQGSV TAPGGHPRHK
PGLPQAPQGP SPRPPTRYEP QRVNSGLSSD PHFEEPGPMV RGVGGTPRDS AGVSPFPPKR
RERPPRKPEL LQEESLPPPH SSGFLGSKPE GPGPQAESRD TGTEALTPHI WNRLHTATSR
KSYRPSSMEP WMEPLSPFED VAGTEMSQSD SGVDLSGDSQ VSSGPCSQRS SPDGGLKGAA
EGPPKRPGGS SPLNAVPCEG PPGSEPPRRP PPAPHDGDRK ELPREQPLPP GPIGTERSQR
TDRGTEPGPI RPSHRPGPPV QFGTSDKDSD LRLVVGDSLK AEKELTASVT EAIPVSRDWE
LLPSAAASAE PQSKNLDSGH CVPEPSSSGQ RLYPEVFYGS AGPSSSQISG GAMDSQLHPN
SGGFRPGTPS LHPYRSQPLY LPPGPAPPSA LLSGLALKGQ FLDFSTMQAT ELGKLPAGGV
LYPPPSFLYS PAFCPSPLPD TSLLQVRQDL PSPSDFYSTP LQPGGQSGFL PSGAPAQQML
LPMVDSQLPV VNFGSLPPAP PPAPPPLSLL PVGPALQPPS LAVRPPPAPA TRVLPSPARP
FPASLGRAEL HPVELKPFQD YQKLSSNLGG PGSSRTPPTG RSFSGLNSRL KATPSTYSGV
FRTQRVDLYQ QASPPDALRW IPKPWERTGP PPREGPSRRA EEPGSRGDKE PGLPPPR