EOMES_HUMAN
ID EOMES_HUMAN Reviewed; 686 AA.
AC O95936; B7Z4I2; B7ZA51; G3XAI5; Q8TAZ2; Q9UPM7;
DT 30-MAY-2000, integrated into UniProtKB/Swiss-Prot.
DT 05-MAY-2009, sequence version 3.
DT 03-AUG-2022, entry version 179.
DE RecName: Full=Eomesodermin homolog;
DE AltName: Full=T-box brain protein 2;
DE Short=T-brain-2;
DE Short=TBR-2;
GN Name=EOMES; Synonyms=TBR2;
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 [MRNA] (ISOFORM 1).
RX PubMed=10407135; DOI=10.1016/s0165-3806(99)00064-4;
RA Kimura N., Nakashima K., Ueno M., Taga T.;
RT "A novel mammalian T-box-containing gene, Tbr2, expressed in mouse
RT developing brain.";
RL Brain Res. Dev. Brain Res. 115:183-193(1999).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
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 MRNA] (ISOFORM 4).
RX PubMed=18316326; DOI=10.1093/dnares/dsn004;
RA Nagase T., Yamakawa H., Tadokoro S., Nakajima D., Inoue S., Yamaguchi K.,
RA Itokawa Y., Kikuno R.F., Koga H., Ohara O.;
RT "Exploration of human ORFeome: high-throughput preparation of ORF clones
RT and efficient characterization of their protein products.";
RL DNA Res. 15:137-149(2008).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
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 [6]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 291-455 (ISOFORM 1).
RX PubMed=9888994; DOI=10.1006/geno.1998.5632;
RA Yi C.-H., Terrett J.A., Li Q.-Y., Ellington K., Packham E.A.,
RA Amstrong-Buisseret L., McClure P., Slingsby T., Brook J.D.;
RT "Identification, mapping and phylogenomic analysis of four new human
RT members of the T-box gene family: EOMES, TBX6, TBX18, and TBX19.";
RL Genomics 55:10-20(1999).
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 297-686 (ISOFORM 1).
RC TISSUE=Brain;
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 FUNCTION, TISSUE SPECIFICITY, AND INDUCTION.
RX PubMed=17566017; DOI=10.1136/gut.2006.117812;
RA Atreya I., Schimanski C.C., Becker C., Wirtz S., Dornhoff H., Schnuerer E.,
RA Berger M.R., Galle P.R., Herr W., Neurath M.F.;
RT "The T-box transcription factor eomesodermin controls CD8 T cell activity
RT and lymph node metastasis in human colorectal cancer.";
RL Gut 56:1572-1578(2007).
RN [9]
RP FUNCTION IN BRAIN DEVELOPMENT, AND DEVELOPMENTAL STAGE.
RX PubMed=17353897; DOI=10.1038/ng1993;
RA Baala L., Briault S., Etchevers H.C., Laumonnier F., Natiq A., Amiel J.,
RA Boddaert N., Picard C., Sbiti A., Asermouh A., Attie-Bitach T.,
RA Encha-Razavi F., Munnich A., Sefiani A., Lyonnet S.;
RT "Homozygous silencing of T-box transcription factor EOMES leads to
RT microcephaly with polymicrogyria and corpus callosum agenesis.";
RL Nat. Genet. 39:454-456(2007).
RN [10]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE 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 [11]
RP VARIANT [LARGE SCALE ANALYSIS] GLN-667.
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: Functions as a transcriptional activator playing a crucial
CC role during development. Functions in trophoblast differentiation and
CC later in gastrulation, regulating both mesoderm delamination and
CC endoderm specification. Plays a role in brain development being
CC required for the specification and the proliferation of the
CC intermediate progenitor cells and their progeny in the cerebral cortex.
CC Also involved in the differentiation of CD8+ T-cells during immune
CC response regulating the expression of lytic effector genes.
CC {ECO:0000269|PubMed:17353897, ECO:0000269|PubMed:17566017}.
CC -!- INTERACTION:
CC O95936-4; Q5XKR4: OTP; NbExp=3; IntAct=EBI-19949518, EBI-12865884;
CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000305}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=O95936-1; Sequence=Displayed;
CC Name=2;
CC IsoId=O95936-2; Sequence=VSP_042161, VSP_042162;
CC Name=3;
CC IsoId=O95936-3; Sequence=VSP_054801, VSP_042162;
CC Name=4;
CC IsoId=O95936-4; Sequence=VSP_042162;
CC -!- TISSUE SPECIFICITY: Expressed in CD8+ T-cells.
CC {ECO:0000269|PubMed:17566017}.
CC -!- DEVELOPMENTAL STAGE: Detected at 7 weeks of development in the
CC forebrain floorplate of the CNS. Expressed within the mantle layer and
CC migrating neuroblasts of the telencephalon at 12.5 weeks of
CC development. {ECO:0000269|PubMed:17353897}.
CC -!- INDUCTION: Up-regulated in CD8+ T-cells simultaneously stimulated with
CC TGFB1 and IL4/interleukin-4. {ECO:0000269|PubMed:17566017}.
CC -!- DISEASE: Note=A translocation t(3;10)(p24;q23) located 215 kb 3' to the
CC EOMES gene but leading to loss of its expression was identified in a
CC large consanguineous family. Homozygous silencing produces microcephaly
CC associated with corpus callosum agenesis, bilateral polymicrogyria,
CC ventricular dilatation and a small cerebellum.
CC -!- MISCELLANEOUS: [Isoform 2]: Dubious isoform produced through aberrant
CC splice sites. {ECO:0000305}.
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DR EMBL; AB031038; BAA83417.1; -; mRNA.
DR EMBL; AK297389; BAH12568.1; -; mRNA.
DR EMBL; AK316166; BAH14537.1; -; mRNA.
DR EMBL; AB463608; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; AC098614; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471055; EAW64388.1; -; Genomic_DNA.
DR EMBL; AJ010280; CAB37939.1; -; Genomic_DNA.
DR EMBL; BC025363; AAH25363.1; -; mRNA.
DR CCDS; CCDS2646.1; -. [O95936-1]
DR CCDS; CCDS63584.1; -. [O95936-3]
DR CCDS; CCDS63585.1; -. [O95936-4]
DR RefSeq; NP_001265111.1; NM_001278182.1. [O95936-4]
DR RefSeq; NP_001265112.1; NM_001278183.1. [O95936-3]
DR RefSeq; NP_005433.2; NM_005442.3. [O95936-1]
DR AlphaFoldDB; O95936; -.
DR SMR; O95936; -.
DR BioGRID; 113916; 2.
DR IntAct; O95936; 4.
DR MINT; O95936; -.
DR STRING; 9606.ENSP00000388620; -.
DR iPTMnet; O95936; -.
DR PhosphoSitePlus; O95936; -.
DR BioMuta; EOMES; -.
DR jPOST; O95936; -.
DR MassIVE; O95936; -.
DR MaxQB; O95936; -.
DR PaxDb; O95936; -.
DR PeptideAtlas; O95936; -.
DR PRIDE; O95936; -.
DR ProteomicsDB; 33758; -.
DR ProteomicsDB; 51135; -. [O95936-1]
DR ProteomicsDB; 51136; -. [O95936-2]
DR ProteomicsDB; 7055; -.
DR Antibodypedia; 11523; 452 antibodies from 40 providers.
DR DNASU; 8320; -.
DR Ensembl; ENST00000295743.8; ENSP00000295743.4; ENSG00000163508.13. [O95936-1]
DR Ensembl; ENST00000449599.4; ENSP00000388620.1; ENSG00000163508.13. [O95936-4]
DR Ensembl; ENST00000461503.2; ENSP00000487112.1; ENSG00000163508.13. [O95936-3]
DR GeneID; 8320; -.
DR KEGG; hsa:8320; -.
DR MANE-Select; ENST00000449599.4; ENSP00000388620.1; NM_001278182.2; NP_001265111.1. [O95936-4]
DR UCSC; uc003cdx.5; human. [O95936-1]
DR CTD; 8320; -.
DR DisGeNET; 8320; -.
DR GeneCards; EOMES; -.
DR HGNC; HGNC:3372; EOMES.
DR HPA; ENSG00000163508; Group enriched (brain, lymphoid tissue).
DR MalaCards; EOMES; -.
DR MIM; 604615; gene.
DR neXtProt; NX_O95936; -.
DR OpenTargets; ENSG00000163508; -.
DR Orphanet; 171703; Microcephaly-polymicrogyria-corpus callosum agenesis syndrome.
DR PharmGKB; PA27806; -.
DR VEuPathDB; HostDB:ENSG00000163508; -.
DR eggNOG; KOG3585; Eukaryota.
DR GeneTree; ENSGT00940000158728; -.
DR HOGENOM; CLU_014430_8_1_1; -.
DR InParanoid; O95936; -.
DR OMA; YGPYPGT; -.
DR PhylomeDB; O95936; -.
DR TreeFam; TF106341; -.
DR PathwayCommons; O95936; -.
DR SignaLink; O95936; -.
DR SIGNOR; O95936; -.
DR BioGRID-ORCS; 8320; 13 hits in 1090 CRISPR screens.
DR GeneWiki; Eomesodermin; -.
DR GenomeRNAi; 8320; -.
DR Pharos; O95936; Tbio.
DR PRO; PR:O95936; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; O95936; protein.
DR Bgee; ENSG00000163508; Expressed in ganglionic eminence and 124 other tissues.
DR Genevisible; O95936; HS.
DR GO; GO:0000785; C:chromatin; IEA:Ensembl.
DR GO; GO:0005634; C:nucleus; IEA:UniProtKB-SubCell.
DR GO; GO:0031490; F:chromatin DNA binding; IEA:Ensembl.
DR GO; GO:0003677; F:DNA binding; ISS:UniProtKB.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IBA:GO_Central.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR GO; GO:0061629; F:RNA polymerase II-specific DNA-binding transcription factor binding; ISS:BHF-UCL.
DR GO; GO:0043565; F:sequence-specific DNA binding; IDA:MGI.
DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR GO; GO:0002250; P:adaptive immune response; IEA:UniProtKB-KW.
DR GO; GO:0048708; P:astrocyte differentiation; IEA:Ensembl.
DR GO; GO:0007420; P:brain development; IMP:UniProtKB.
DR GO; GO:0010002; P:cardioblast differentiation; IEA:Ensembl.
DR GO; GO:0002302; P:CD8-positive, alpha-beta T cell differentiation involved in immune response; IMP:UniProtKB.
DR GO; GO:0060706; P:cell differentiation involved in embryonic placenta development; ISS:UniProtKB.
DR GO; GO:0001708; P:cell fate specification; IBA:GO_Central.
DR GO; GO:0021895; P:cerebral cortex neuron differentiation; IEA:Ensembl.
DR GO; GO:0021796; P:cerebral cortex regionalization; IEA:Ensembl.
DR GO; GO:0006338; P:chromatin remodeling; IEA:Ensembl.
DR GO; GO:0080111; P:DNA demethylation; IEA:Ensembl.
DR GO; GO:0006306; P:DNA methylation; IEA:Ensembl.
DR GO; GO:0001706; P:endoderm formation; ISS:UniProtKB.
DR GO; GO:0001714; P:endodermal cell fate specification; IBA:GO_Central.
DR GO; GO:0010467; P:gene expression; IEA:Ensembl.
DR GO; GO:0016573; P:histone acetylation; IEA:Ensembl.
DR GO; GO:0016575; P:histone deacetylation; IEA:Ensembl.
DR GO; GO:0048382; P:mesendoderm development; IEA:Ensembl.
DR GO; GO:0001707; P:mesoderm formation; ISS:UniProtKB.
DR GO; GO:0060809; P:mesodermal to mesenchymal transition involved in gastrulation; ISS:UniProtKB.
DR GO; GO:0043433; P:negative regulation of DNA-binding transcription factor activity; ISS:BHF-UCL.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; ISS:BHF-UCL.
DR GO; GO:0001764; P:neuron migration; IEA:Ensembl.
DR GO; GO:0021772; P:olfactory bulb development; IEA:Ensembl.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:MGI.
DR GO; GO:0045893; P:positive regulation of transcription, DNA-templated; ISS:UniProtKB.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:0035914; P:skeletal muscle cell differentiation; IEA:Ensembl.
DR GO; GO:0019827; P:stem cell population maintenance; IEA:Ensembl.
DR GO; GO:0001829; P:trophectodermal cell differentiation; IEA:Ensembl.
DR CDD; cd00182; TBOX; 1.
DR Gene3D; 2.60.40.820; -; 1.
DR InterPro; IPR008967; p53-like_TF_DNA-bd.
DR InterPro; IPR032385; T-box_assoc.
DR InterPro; IPR046360; T-box_DNA-bd.
DR InterPro; IPR036960; T-box_sf.
DR InterPro; IPR001699; TF_T-box.
DR InterPro; IPR018186; TF_T-box_CS.
DR PANTHER; PTHR11267; PTHR11267; 1.
DR Pfam; PF00907; T-box; 1.
DR Pfam; PF16176; T-box_assoc; 1.
DR PRINTS; PR00937; TBOX.
DR SMART; SM00425; TBOX; 1.
DR SUPFAM; SSF49417; SSF49417; 1.
DR PROSITE; PS01283; TBOX_1; 1.
DR PROSITE; PS01264; TBOX_2; 1.
DR PROSITE; PS50252; TBOX_3; 1.
PE 1: Evidence at protein level;
KW Activator; Adaptive immunity; Alternative splicing;
KW Chromosomal rearrangement; Developmental protein; Differentiation;
KW DNA-binding; Gastrulation; Immunity; Nucleus; Phosphoprotein;
KW Reference proteome; Transcription; Transcription regulation.
FT CHAIN 1..686
FT /note="Eomesodermin homolog"
FT /id="PRO_0000184459"
FT DNA_BIND 276..456
FT /note="T-box"
FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00201"
FT REGION 27..46
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 571..686
FT /note="Required for transcription activation"
FT /evidence="ECO:0000250"
FT REGION 639..686
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 639..659
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT MOD_RES 107
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:O54839"
FT VAR_SEQ 1..295
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_054801"
FT VAR_SEQ 1..286
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_042161"
FT VAR_SEQ 460
FT /note="S -> SMYTASENDRLTPSPTDSPR (in isoform 2, isoform 3
FT and isoform 4)"
FT /evidence="ECO:0000303|PubMed:14702039,
FT ECO:0000303|PubMed:18316326"
FT /id="VSP_042162"
FT VARIANT 120
FT /note="A -> G (in dbSNP:rs1874198)"
FT /id="VAR_059827"
FT VARIANT 667
FT /note="E -> Q (in a breast cancer sample; somatic
FT mutation)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_036069"
FT CONFLICT 49
FT /note="D -> G (in Ref. 1; BAA83417)"
FT /evidence="ECO:0000305"
FT CONFLICT 142
FT /note="E -> V (in Ref. 1; BAA83417)"
FT /evidence="ECO:0000305"
FT CONFLICT 200
FT /note="V -> A (in Ref. 1; BAA83417)"
FT /evidence="ECO:0000305"
FT CONFLICT 221..222
FT /note="SS -> IN (in Ref. 1; BAA83417)"
FT /evidence="ECO:0000305"
FT CONFLICT 262
FT /note="G -> S (in Ref. 1; BAA83417)"
FT /evidence="ECO:0000305"
FT CONFLICT 337
FT /note="C -> S (in Ref. 6; CAB37939)"
FT /evidence="ECO:0000305"
FT CONFLICT 411
FT /note="E -> EK (in Ref. 6; CAB37939)"
FT /evidence="ECO:0000305"
FT CONFLICT 415
FT /note="E -> D (in Ref. 6; CAB37939)"
FT /evidence="ECO:0000305"
FT CONFLICT 661
FT /note="E -> G (in Ref. 1; BAA83417)"
FT /evidence="ECO:0000305"
FT CONFLICT 685
FT /note="T -> S (in Ref. 1; BAA83417)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 686 AA; 72732 MW; 1A6BA0763C5A6681 CRC64;
MQLGEQLLVS SVNLPGAHFY PLESARGGSG GSAGHLPSAA PSPQKLDLDK ASKKFSGSLS
CEAVSGEPAA ASAGAPAAML SDTDAGDAFA SAAAVAKPGP PDGRKGSPCG EEELPSAAAA
AAAAAAAAAA TARYSMDSLS SERYYLQSPG PQGSELAAPC SLFPYQAAAG APHGPVYPAP
NGARYPYGSM LPPGGFPAAV CPPGRAQFGP GAGAGSGAGG SSGGGGGPGT YQYSQGAPLY
GPYPGAAAAG SCGGLGGLGV PGSGFRAHVY LCNRPLWLKF HRHQTEMIIT KQGRRMFPFL
SFNINGLNPT AHYNVFVEVV LADPNHWRFQ GGKWVTCGKA DNNMQGNKMY VHPESPNTGS
HWMRQEISFG KLKLTNNKGA NNNNTQMIVL QSLHKYQPRL HIVEVTEDGV EDLNEPSKTQ
TFTFSETQFI AVTAYQNTDI TQLKIDHNPF AKGFRDNYDS SHQIVPGGRY GVQSFFPEPF
VNTLPQARYY NGERTVPQTN GLLSPQQSEE VANPPQRWLV TPVQQPGTNK LDISSYESEY
TSSTLLPYGI KSLPLQTSHA LGYYPDPTFP AMAGWGGRGS YQRKMAAGLP WTSRTSPTVF
SEDQLSKEKV KEEIGSSWIE TPPSIKSLDS NDSGVYTSAC KRRRLSPSNS SNENSPSIKC
EDINAEEYSK DTSKGMGGYY AFYTTP