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   24-JAN-2024, entry version 128.
DE   RecName: Full=Protein CC2D2B {ECO:0000305};
GN   Name=CC2D2B {ECO:0000312|HGNC:HGNC:31666};
GN   Synonyms=C10orf130 {ECO:0000312|HGNC:HGNC:31666}, C10orf131
GN   {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   CCDS; CCDS91310.1; -. [Q6DHV5-5]
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.
DR   AlphaFoldDB; Q6DHV5; -.
DR   SMR; Q6DHV5; -.
DR   BioGRID; 132405; 3.
DR   BioGRID; 136037; 4.
DR   IntAct; Q6DHV5; 1.
DR   STRING; 9606.ENSP00000386988; -.
DR   iPTMnet; Q6DHV5; -.
DR   PhosphoSitePlus; Q6DHV5; -.
DR   SwissPalm; Q6DHV5; -.
DR   BioMuta; CC2D2B; -.
DR   DMDM; 109821270; -.
DR   MassIVE; Q6DHV5; -.
DR   PaxDb; 9606-ENSP00000473658; -.
DR   PeptideAtlas; Q6DHV5; -.
DR   Antibodypedia; 49561; 28 antibodies from 12 providers.
DR   DNASU; 387707; -.
DR   Ensembl; ENST00000344386.3; ENSP00000343747.3; ENSG00000188649.16. [Q6DHV5-1]
DR   Ensembl; ENST00000410012.6; ENSP00000386988.2; ENSG00000188649.16. [Q6DHV5-2]
DR   Ensembl; ENST00000423344.6; ENSP00000411850.2; ENSG00000188649.16. [Q6DHV5-4]
DR   Ensembl; ENST00000646931.3; ENSP00000496666.2; ENSG00000188649.16. [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   AGR; HGNC:31666; -.
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; IYWPETI; -.
DR   OrthoDB; 316088at2759; -.
DR   PhylomeDB; Q6DHV5; -.
DR   TreeFam; TF333815; -.
DR   PathwayCommons; Q6DHV5; -.
DR   SignaLink; Q6DHV5; -.
DR   BioGRID-ORCS; 387707; 26 hits in 1152 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 134 other cell types or tissues.
DR   ExpressionAtlas; Q6DHV5; baseline and differential.
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; C2 domain; 1.
DR   InterPro; IPR000008; C2_dom.
DR   InterPro; IPR035892; C2_domain_sf.
DR   InterPro; IPR028928; CC2D2AN-C2.
DR   InterPro; IPR041510; DUF5523.
DR   PANTHER; PTHR20837; CENTROSOMAL PROTEIN-RELATED; 1.
DR   PANTHER; PTHR20837:SF2; PROTEIN CC2D2B; 1.
DR   Pfam; PF15625; CC2D2AN-C2; 1.
DR   Pfam; PF17661; DUF5523; 1.
DR   SMART; SM00239; C2; 1.
DR   SUPFAM; SSF49562; C2 domain (Calcium/lipid-binding domain, CaLB); 1.
DR   Genevisible; Q6DHV5; HS.
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
//