COLC2_HUMAN
ID COLC2_HUMAN Reviewed; 154 AA.
AC A8K830; E9PMJ8; Q2TBJ3; V5LD62; V5LDI3; V5LDV1; V5LE09; V5LEU3;
DT 20-MAY-2008, integrated into UniProtKB/Swiss-Prot.
DT 04-DEC-2007, sequence version 1.
DT 03-AUG-2022, entry version 90.
DE RecName: Full=Colorectal cancer-associated protein 2;
DE AltName: Full=Cancer susceptibility candidate protein 13;
GN Name=COLCA2; Synonyms=C11orf93, CASC13;
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] (ISOFORM 1).
RC TISSUE=Colon;
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=16554811; DOI=10.1038/nature04632;
RA Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT "Human chromosome 11 DNA sequence and analysis including novel gene
RT identification.";
RL Nature 440:497-500(2006).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
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 [4]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 4; 5), SUBCELLULAR LOCATION,
RP AND TISSUE SPECIFICITY.
RX PubMed=24154973; DOI=10.1002/ijc.28557;
RA Peltekova V.D., Lemire M., Qazi A.M., Zaidi S.H., Trinh Q.M., Bielecki R.,
RA Rogers M., Hodgson L., Wang M., D'Souza D.J., Zandi S., Chong T.,
RA Kwan J.Y., Kozak K., De Borja R., Timms L., Rangrej J., Volar M.,
RA Chan-Seng-Yue M., Beck T., Ash C., Lee S., Wang J., Boutros P.C.,
RA Stein L.D., Dick J.E., Gryfe R., McPherson J.D., Zanke B.W., Pollett A.,
RA Gallinger S., Hudson T.J.;
RT "Identification of genes expressed by immune cells of the colon that are
RT regulated by colorectal cancer-associated variants.";
RL Int. J. Cancer 134:2330-2341(2014).
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:24154973}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=5;
CC Name=1;
CC IsoId=A8K830-1; Sequence=Displayed;
CC Name=2;
CC IsoId=A8K830-2; Sequence=VSP_055553;
CC Name=3;
CC IsoId=A8K830-3; Sequence=VSP_055554;
CC Name=4;
CC IsoId=A8K830-4; Sequence=VSP_055555;
CC Name=5;
CC IsoId=A8K830-5; Sequence=VSP_055556;
CC -!- TISSUE SPECIFICITY: Expressed in many cell types of epithelial,
CC mesenchymal and hematopoietic origins. {ECO:0000269|PubMed:24154973}.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAI10080.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
CC Sequence=AP002448; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
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DR EMBL; AK292195; BAF84884.1; -; mRNA.
DR EMBL; KF740510; AHA49743.1; -; mRNA.
DR EMBL; KF740511; AHA49744.1; -; mRNA.
DR EMBL; KF740512; AHA49745.1; -; mRNA.
DR EMBL; KF740513; AHA49746.1; -; mRNA.
DR EMBL; KF740514; AHA49747.1; -; mRNA.
DR EMBL; AP002448; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC110079; AAI10080.1; ALT_INIT; mRNA.
DR CCDS; CCDS44728.1; -. [A8K830-1]
DR CCDS; CCDS73378.1; -. [A8K830-5]
DR RefSeq; NP_001129577.1; NM_001136105.2. [A8K830-1]
DR RefSeq; NP_001258386.1; NM_001271457.1. [A8K830-1]
DR RefSeq; NP_001258387.1; NM_001271458.1. [A8K830-5]
DR RefSeq; XP_016872687.1; XM_017017198.1.
DR RefSeq; XP_016872688.1; XM_017017199.1. [A8K830-1]
DR RefSeq; XP_016872689.1; XM_017017200.1. [A8K830-1]
DR AlphaFoldDB; A8K830; -.
DR BioGRID; 125682; 1.
DR STRING; 9606.ENSP00000484135; -.
DR BioMuta; COLCA2; -.
DR PaxDb; A8K830; -.
DR PRIDE; A8K830; -.
DR DNASU; 120376; -.
DR Ensembl; ENST00000398035.6; ENSP00000381115.2; ENSG00000214290.9. [A8K830-1]
DR Ensembl; ENST00000526216.1; ENSP00000434519.1; ENSG00000214290.9. [A8K830-1]
DR Ensembl; ENST00000610738.6; ENSP00000484135.1; ENSG00000214290.9. [A8K830-5]
DR Ensembl; ENST00000614153.4; ENSP00000481028.2; ENSG00000214290.9. [A8K830-1]
DR Ensembl; ENST00000638573.1; ENSP00000492570.1; ENSG00000214290.9. [A8K830-4]
DR GeneID; 120376; -.
DR KEGG; hsa:120376; -.
DR MANE-Select; ENST00000610738.6; ENSP00000484135.1; NM_001271458.2; NP_001258387.1. [A8K830-5]
DR UCSC; uc010rwf.3; human. [A8K830-1]
DR CTD; 120376; -.
DR DisGeNET; 120376; -.
DR GeneCards; COLCA2; -.
DR HGNC; HGNC:26978; COLCA2.
DR HPA; ENSG00000214290; Low tissue specificity.
DR MIM; 615694; gene.
DR neXtProt; NX_A8K830; -.
DR OpenTargets; ENSG00000214290; -.
DR PharmGKB; PA165543240; -.
DR VEuPathDB; HostDB:ENSG00000214290; -.
DR eggNOG; ENOG502S1YS; Eukaryota.
DR GeneTree; ENSGT00420000030454; -.
DR HOGENOM; CLU_102979_0_0_1; -.
DR InParanoid; A8K830; -.
DR OMA; HGYPQED; -.
DR OrthoDB; 1212968at2759; -.
DR PhylomeDB; A8K830; -.
DR PathwayCommons; A8K830; -.
DR BioGRID-ORCS; 120376; 15 hits in 1048 CRISPR screens.
DR ChiTaRS; COLCA2; human.
DR GenomeRNAi; 120376; -.
DR Pharos; A8K830; Tdark.
DR PRO; PR:A8K830; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; A8K830; protein.
DR Bgee; ENSG00000214290; Expressed in pancreatic ductal cell and 138 other tissues.
DR ExpressionAtlas; A8K830; baseline and differential.
DR Genevisible; A8K830; HS.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR InterPro; IPR043265; COLCA2.
DR PANTHER; PTHR36689; PTHR36689; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Cytoplasm; Reference proteome.
FT CHAIN 1..154
FT /note="Colorectal cancer-associated protein 2"
FT /id="PRO_0000335687"
FT VAR_SEQ 1
FT /note="M -> MSDGARKRRRKGTRESGQKAKTEGSEGGSSSGLAPLLGQSAGTSPAQ
FT DGAGQTSPLAPGLASRPRARRGRSLPRSHTWPEKPKVYQGVRVKITVKELLQQRRAHQA
FT ASGGTRSGGSSVHLSDPVAPSSAGLYFEPEPISSTPNYLQRGEFSSCVSCEENSSCLDQ
FT IFDSYLQTEM (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:24154973"
FT /id="VSP_055553"
FT VAR_SEQ 1
FT /note="M -> MSEQRGTKSRHASKGRGSGEDASHAVAAPTQRLSRRAEAQRPSWPLR
FT TSAYPRPPPALPRIHCCVLRHAVRTLRAQKLLRGELEAHSEPGTGAERTDCTEPSCGGP
FT CADPEGRPLPAESGADRGTGWWGCEKPKVYQGVRVKITVKELLQQRRAHQAASGGTRSG
FT GSSVHLSDPVAPSSAGLYFEPEPISSTPNYLQRGEFSSCVSCEENSSCLDQIFDSYLQT
FT EM (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:24154973"
FT /id="VSP_055554"
FT VAR_SEQ 1
FT /note="M -> MSDGARKRRRKGTRESGQKAKTEGSEGGSSSGLAPLLEKPKVYQGVR
FT VKITVKELLQQRRAHQAASGGTRSGGSSVHLSDPVAPSSAGLYFEPEPISSTPNYLQRG
FT EFSSCVSCEENSSCLDQIFDSYLQTEM (in isoform 4)"
FT /evidence="ECO:0000303|PubMed:24154973"
FT /id="VSP_055555"
FT VAR_SEQ 1
FT /note="M -> MSEKPKVYQGVRVKITVKELLQQRRAHQAASGGTRSGGSSVHLSDPV
FT APSSAGLYFEPEPISSTPNYLQRGEFSSCVSCEENSSCLDQIFDSYLQTEM (in
FT isoform 5)"
FT /evidence="ECO:0000303|PubMed:24154973"
FT /id="VSP_055556"
SQ SEQUENCE 154 AA; 16850 MW; FFFC596C75788FAB CRC64;
MHPEPLLNST QSAPHHFPDS FQATPFCFNQ SLIPGSPSNS SILSGSLDYS YSPVQLPSYA
PENYNSPASL DTRTCGYPPE DHSYQHLSSH AQYSCFSSAT TSICYCASCE AEDLDALQAA
EYFYPSTDCV DFAPSAAATS DFYKRETNCD ICYS
