CASC2_HUMAN
ID CASC2_HUMAN Reviewed; 76 AA.
AC Q8IU53; Q2M1K1; Q8IUI3;
DT 18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT 01-MAR-2003, sequence version 1.
DT 25-MAY-2022, entry version 71.
DE RecName: Full=Protein CASC2, isoforms 1/2;
DE AltName: Full=Cancer susceptibility candidate gene 2 protein isoforms 1/2;
GN Name=CASC2; Synonyms=C10orf5;
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] (ISOFORMS 1 AND 2).
RC TISSUE=B-cell, Fetal lung, and Testis;
RX PubMed=15024726; DOI=10.1002/humu.20015;
RA Baldinu P., Cossu A., Manca A., Satta M.P., Sini M.C., Rozzo C.,
RA Dessole S., Cherchi P., Gianfrancesco F., Pintus A., Carboni A., Deiana A.,
RA Tanda F., Palmieri G.;
RT "Identification of a novel candidate gene, CASC2, in a region of common
RT allelic loss at chromosome 10q26 in human endometrial cancer.";
RL Hum. Mutat. 23:318-326(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 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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (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).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1; Synonyms=CASC2c;
CC IsoId=Q8IU53-1; Sequence=Displayed;
CC Name=2; Synonyms=CASC2b;
CC IsoId=Q8IU53-2; Sequence=VSP_031978;
CC Name=3; Synonyms=CASC2a;
CC IsoId=Q6XLA1-1; Sequence=External;
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DR EMBL; AJ535620; CAD59605.1; -; mRNA.
DR EMBL; AJ535621; CAD59606.1; -; mRNA.
DR EMBL; AJ535622; CAD59607.1; -; mRNA.
DR EMBL; CH471066; EAW49421.1; -; Genomic_DNA.
DR EMBL; AC022395; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC112326; -; NOT_ANNOTATED_CDS; mRNA.
DR AlphaFoldDB; Q8IU53; -.
DR BioMuta; HGNC:22933; -.
DR PRIDE; Q8IU53; -.
DR GeneCards; CASC2; -.
DR HGNC; HGNC:22933; CASC2.
DR MIM; 608598; gene.
DR neXtProt; NX_Q8IU53; -.
DR PathwayCommons; Q8IU53; -.
DR ChiTaRS; CASC2; human.
DR Pharos; Q8IU53; Tdark.
DR Proteomes; UP000005640; Unplaced.
PE 4: Predicted;
KW Alternative splicing; Reference proteome.
FT CHAIN 1..76
FT /note="Protein CASC2, isoforms 1/2"
FT /id="PRO_0000322987"
FT REGION 1..20
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT VAR_SEQ 43..63
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:15024726"
FT /id="VSP_031978"
FT CONFLICT 5
FT /note="R -> L (in Ref. 3; BC112326)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 76 AA; 8607 MW; F155AAABEBACD37D CRC64;
MAGTRGLMLL GPGPVAGPRD VGTCRGRQME IQKHKDNKKL PQGIIIVFRL QTHTTPQIYT
QLKGKLRKFF KEPYSE