C2D2B_HUMAN
ID C2D2B_HUMAN Reviewed; 1437 AA.
AC Q6DHV5; A0A1B0GVB6; A0A2R8Y8B5; A2A3E9; A6NCD4; B1AMZ2; B4DG41; B4DYD4;
AC E9PCC3; Q5VUS0;
DT 27-JUN-2006, integrated into UniProtKB/Swiss-Prot.
DT 26-FEB-2020, sequence version 4.
DT 03-AUG-2022, entry version 121.
DE RecName: Full=Protein CC2D2B {ECO:0000305};
GN Name=CC2D2B {ECO:0000312|HGNC:HGNC:31666};
GN Synonyms=C10orf130 {ECO:0000312|HGNC:HGNC:31666},
GN C10orf131 {ECO:0000312|HGNC:HGNC:31666};
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 [LARGE SCALE MRNA] (ISOFORMS 3 AND 4).
RC TISSUE=Testis;
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 [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y.,
RA Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P.,
RA Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N.,
RA Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A.,
RA Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C.,
RA Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D.,
RA Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C.,
RA Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K.,
RA Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A.,
RA Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S.,
RA McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S.,
RA Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V.,
RA Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A.,
RA Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A.,
RA Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P.,
RA Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y.,
RA Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D.,
RA Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
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).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=4;
CC Name=1;
CC IsoId=Q6DHV5-5; Sequence=Displayed;
CC Name=2;
CC IsoId=Q6DHV5-1; Sequence=VSP_060523, VSP_060524, VSP_060525;
CC Name=3;
CC IsoId=Q6DHV5-2; Sequence=VSP_060523, VSP_060524;
CC Name=4;
CC IsoId=Q6DHV5-4; Sequence=VSP_058929, VSP_058932, VSP_058933;
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DR EMBL; AK294399; BAG57652.1; -; mRNA.
DR EMBL; AK302377; BAG63696.1; -; mRNA.
DR EMBL; AL356155; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL365273; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AL513355; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC075861; AAH75861.2; -; mRNA.
DR CCDS; CCDS41555.1; -. [Q6DHV5-1]
DR CCDS; CCDS53560.1; -. [Q6DHV5-2]
DR CCDS; CCDS58090.1; -. [Q6DHV5-4]
DR RefSeq; NP_001001732.2; NM_001001732.3. [Q6DHV5-1]
DR RefSeq; NP_001123918.2; NM_001130446.2. [Q6DHV5-4]
DR RefSeq; NP_001153219.1; NM_001159747.1. [Q6DHV5-2]
DR RefSeq; XP_011538097.1; XM_011539795.2. [Q6DHV5-2]
DR AlphaFoldDB; Q6DHV5; -.
DR BioGRID; 132405; 2.
DR BioGRID; 136037; 4.
DR IntAct; Q6DHV5; 1.
DR STRING; 9606.ENSP00000473658; -.
DR iPTMnet; Q6DHV5; -.
DR PhosphoSitePlus; Q6DHV5; -.
DR BioMuta; CC2D2B; -.
DR DMDM; 109821270; -.
DR MassIVE; Q6DHV5; -.
DR PaxDb; Q6DHV5; -.
DR PeptideAtlas; Q6DHV5; -.
DR PRIDE; Q6DHV5; -.
DR ProteomicsDB; 4102; -.
DR ProteomicsDB; 825; -.
DR Antibodypedia; 49561; 27 antibodies from 11 providers.
DR DNASU; 387707; -.
DR Ensembl; ENST00000344386.3; ENSP00000343747.3; ENSG00000188649.15. [Q6DHV5-1]
DR Ensembl; ENST00000410012.6; ENSP00000386988.2; ENSG00000188649.15. [Q6DHV5-2]
DR Ensembl; ENST00000423344.6; ENSP00000411850.2; ENSG00000188649.15. [Q6DHV5-4]
DR Ensembl; ENST00000646931.3; ENSP00000496666.2; ENSG00000188649.15. [Q6DHV5-5]
DR GeneID; 387707; -.
DR KEGG; hsa:387707; -.
DR MANE-Select; ENST00000646931.3; ENSP00000496666.2; NM_001349008.3; NP_001335937.1.
DR UCSC; uc001kll.4; human. [Q6DHV5-5]
DR CTD; 387707; -.
DR GeneCards; CC2D2B; -.
DR HGNC; HGNC:31666; CC2D2B.
DR HPA; ENSG00000188649; Tissue enhanced (testis).
DR neXtProt; NX_Q6DHV5; -.
DR OpenTargets; ENSG00000188649; -.
DR PharmGKB; PA162381273; -.
DR VEuPathDB; HostDB:ENSG00000188649; -.
DR eggNOG; KOG3639; Eukaryota.
DR GeneTree; ENSGT00940000156590; -.
DR HOGENOM; CLU_020606_0_0_1; -.
DR InParanoid; Q6DHV5; -.
DR OMA; LVFQEYE; -.
DR OrthoDB; 246535at2759; -.
DR PhylomeDB; Q6DHV5; -.
DR TreeFam; TF333815; -.
DR PathwayCommons; Q6DHV5; -.
DR SignaLink; Q6DHV5; -.
DR BioGRID-ORCS; 387707; 22 hits in 1076 CRISPR screens.
DR ChiTaRS; CC2D2B; human.
DR GenomeRNAi; 387707; -.
DR Pharos; Q6DHV5; Tdark.
DR PRO; PR:Q6DHV5; -.
DR Proteomes; UP000005640; Chromosome 10.
DR RNAct; Q6DHV5; protein.
DR Bgee; ENSG00000188649; Expressed in superficial temporal artery and 133 other tissues.
DR ExpressionAtlas; Q6DHV5; baseline and differential.
DR Genevisible; Q6DHV5; HS.
DR GO; GO:0035869; C:ciliary transition zone; IBA:GO_Central.
DR GO; GO:1905515; P:non-motile cilium assembly; IBA:GO_Central.
DR GO; GO:1904491; P:protein localization to ciliary transition zone; IBA:GO_Central.
DR Gene3D; 2.60.40.150; -; 1.
DR InterPro; IPR000008; C2_dom.
DR InterPro; IPR035892; C2_domain_sf.
DR InterPro; IPR028928; CC2D2AN-C2.
DR InterPro; IPR041510; DUF5523.
DR Pfam; PF15625; CC2D2AN-C2; 1.
DR Pfam; PF17661; DUF5523; 1.
DR SMART; SM00239; C2; 1.
DR SUPFAM; SSF49562; SSF49562; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..1437
FT /note="Protein CC2D2B"
FT /id="PRO_0000244089"
FT VAR_SEQ 1..975
FT /note="Missing (in isoform 2 and isoform 3)"
FT /id="VSP_060523"
FT VAR_SEQ 1..12
FT /note="MKKSQREDIFKK -> MGVQ (in isoform 4)"
FT /id="VSP_058929"
FT VAR_SEQ 179..184
FT /note="VVNQRK -> GNILSQ (in isoform 4)"
FT /id="VSP_058932"
FT VAR_SEQ 185..1437
FT /note="Missing (in isoform 4)"
FT /id="VSP_058933"
FT VAR_SEQ 1015..1076
FT /note="EISGTFQVTIPPVLLGYTWSNTYVFPKEDSNEQNLKECTFLNIFATIEPQIS
FT YVTCNPTLDK -> E (in isoform 2 and isoform 3)"
FT /id="VSP_060524"
FT VAR_SEQ 1297..1375
FT /note="Missing (in isoform 2)"
FT /id="VSP_060525"
FT VARIANT 1100
FT /note="N -> D (in dbSNP:rs17383738)"
FT /id="VAR_050697"
FT VARIANT 1273
FT /note="Y -> H (in dbSNP:rs9943393)"
FT /id="VAR_050698"
FT VARIANT 1437
FT /note="Q -> L (in dbSNP:rs1336459)"
FT /id="VAR_050699"
FT CONFLICT Q6DHV5-2:33
FT /note="S -> P (in Ref. 1; BAG57652)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 1437 AA; 166787 MW; D6090052193446B4 CRC64;
MKKSQREDIF KKMSEEMDNI TAEEIIDKHL QKDLDAEENQ NVAKTLRGKV REKLKISKIN
KGEKSSTEQL IDSEIHQRSK LSPQTEVSLD ESLSFFILSG EEGSALGKSS EQRPVNRSYP
KCFSLGVNLQ NVAESEEEEF MKEFILTDIL KVKAADYEDD QEQIKKQKAN IFVPSSSPVV
NQRKLPKDMM PRILEDEGFY IQRKPEIYKK TCNKMENRLL KLEEGKCWFG ESGEIMSLPT
PIKQSWNFRL NVRKEPLNPL LKTIYRKAVK YDLGSSFMNK MEGSREIYQL DLNIVGLQFS
HHHLFNQEQV LCARLLQLYE CFQDRQQQNV SQLLYEKLKA LTDATKLSNE NSEINQLTRK
SLQDYYWQIS NTKQMYDLER GKDLSLLHSI LRTWKQIKSL RHGQGFTSTP IKLQVQRIKM
NKCDEQEQIS EMSETEKKNE GKELKNGKKL ESLSYLASDE TEIERIKPIT LRPQLSFTAE
LTSLSKCSLH EQKRRAKIQK LKYFIKIFYN NKQVSCTSVS PLQFDFKVMF QQIFNIQLMY
WPEVICLEVY EKSKRTSLLA KLYIPLPNYT ELKGKTALQY VEFSSDKLVM PADGEVGSNV
PFLLEGNGTE ELCLLTSGKL SYSLSWSLDE NGLPLIPMPQ SLRSSYCSML RNVDARSVPG
IPWLMNEQKL FEWANEVRID PNNPEYSDLM ESVTYMRLKG QDIPKYFRLE QLQDEFNFVS
EEEMAKSKRF QLLQLRNAGQ LDNFLLQQMP LHDTEIPDLV FQEYESQKEK EVSVSDVNSI
TAQRINSANF LKKVRRLIMK RIVKISKCNL SDIVNDYEEI VSTSQLTDAV CKFVEPRRKL
KPQRKERKKV TAQAISDGDI KILVRIVRAY NIPTRKTTIN GSLDMPTCLK SSISCLRHRE
TIKSVASDET LHEDTVHPFV EVSFQHTVYK TNTASGSHPC WNEEIKVDFV SPGHDYSFSS
LSKIKDNIYI NIFDEMMTEK HEDHCLKSCS GHSYIRKNWL GCIVFPFSAL LQQSEISGTF
QVTIPPVLLG YTWSNTYVFP KEDSNEQNLK ECTFLNIFAT IEPQISYVTC NPTLDKFLDQ
TEVLQRAQIF KKNCKAMFPN RRIVTTVFND EGIQFLVTRY IKALNPPQQL LDIFLHNSNA
TFDLIARFVS LIPFVPNTPD ENDGSDIWMT SEHCISLAIG NKEEHAILLC NFFLYFGKKA
LVLLGTSVLE GHVAYVVTQE TNEYLLWNPS TGQCYKQFDP FCPLKSVDCL FDDRNVWFNI
QQNNTPMAVF FDYSKESFWK QLLPKNVQGT KIQSIQPEEI IYFETDKSMV EDLRNRIERT
LKSKVMEWRP KHPTHWNRQC TFILRQILPK LEFGIGSFVS SEGDNEFERI LQFYWVTGFP
IQMPYIDVQS IIDAVYQTGI HSAEFPQTEF ALAVYIHPYP NNILSVWVYL ASLVQHQ
