ID   CSC2A_HUMAN             Reviewed;         102 AA.
AC   Q6XLA1; D3DRC5;
DT   18-MAR-2008, integrated into UniProtKB/Swiss-Prot.
DT   05-JUL-2004, sequence version 1.
DT   25-MAY-2022, entry version 63.
DE   RecName: Full=Protein CASC2, isoform 3;
DE   AltName: Full=Cancer susceptibility candidate gene 2 protein, isoform 3;
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] (ISOFORM 3), FUNCTION, TISSUE SPECIFICITY,
RP   INDUCTION, AND VARIANT SER-8.
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].
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   [3]
RP   FUNCTION, AND INDUCTION.
RX   PubMed=17352238;
RA   Baldinu P., Cossu A., Manca A., Satta M.P., Sini M.C., Palomba G.,
RA   Dessole S., Cherchi P., Mara L., Tanda F., Palmieri G.;
RT   "CASC2a gene is down-regulated in endometrial cancer.";
RL   Anticancer Res. 27:235-243(2007).
CC   -!- FUNCTION: May act as a potential tumor suppressor.
CC       {ECO:0000269|PubMed:15024726, ECO:0000269|PubMed:17352238}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=3;
CC       Name=3; Synonyms=CASC2a;
CC         IsoId=Q6XLA1-1; Sequence=Displayed;
CC       Name=1; Synonyms=CASC2c;
CC         IsoId=Q8IU53-1; Sequence=External;
CC       Name=2; Synonyms=CASC2b;
CC         IsoId=Q8IU53-2; Sequence=External;
CC   -!- TISSUE SPECIFICITY: Expressed in normal and neoplastic endometrial
CC       tissues. {ECO:0000269|PubMed:15024726}.
CC   -!- INDUCTION: Down-regulated in endometrial and colorectal tumor samples.
CC       {ECO:0000269|PubMed:15024726, ECO:0000269|PubMed:17352238}.
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DR   EMBL; AY226450; AAP48615.1; -; mRNA.
DR   EMBL; CH471066; EAW49422.1; -; Genomic_DNA.
DR   EMBL; CH471066; EAW49420.1; -; Genomic_DNA.
DR   AlphaFoldDB; Q6XLA1; -.
DR   iPTMnet; Q6XLA1; -.
DR   BioMuta; HGNC:22933; -.
DR   PRIDE; Q6XLA1; -.
DR   GeneCards; CASC2; -.
DR   HGNC; HGNC:22933; CASC2.
DR   MIM; 608598; gene.
DR   neXtProt; NX_Q6XLA1; -.
DR   InParanoid; Q6XLA1; -.
DR   PathwayCommons; Q6XLA1; -.
DR   ChiTaRS; CASC2; human.
DR   Pharos; Q6XLA1; Tbio.
DR   Proteomes; UP000005640; Unplaced.
DR   RNAct; Q6XLA1; protein.
DR   GO; GO:0002357; P:defense response to tumor cell; IDA:UniProtKB.
DR   GO; GO:0043409; P:negative regulation of MAPK cascade; IDA:UniProtKB.
DR   GO; GO:0043280; P:positive regulation of cysteine-type endopeptidase activity involved in apoptotic process; IDA:UniProtKB.
PE   2: Evidence at transcript level;
KW   Alternative splicing; Reference proteome.
FT   CHAIN           1..102
FT                   /note="Protein CASC2, isoform 3"
FT                   /id="PRO_0000322988"
FT   VARIANT         8
FT                   /note="P -> S (in some patients with endometrial cancer)"
FT                   /evidence="ECO:0000269|PubMed:15024726"
FT                   /id="VAR_039469"
SQ   SEQUENCE   102 AA;  11902 MW;  F0DD27833D4BAE55 CRC64;
     MTQEKMYPHL FSERCANQHQ HRTAEEKKYV SEKQLIHWRC EEPSAHHNSI DIKRMKHFGS
     ALRLRQTFHL DTADHPCVIT MNPALPWKLE GSNSTSTLPL PA