Protein CASC2, isoforms 1/2 (CASC2)
The protein contains 76 amino acids for an estimated molecular weight of 8607 Da.
No function (updated: June 20, 2018)
Protein identification was indicated in the following studies:
Methods
The following articles were analysed to gather the proteome content of erythrocytes.
The gene or protein list provided in the studies were processed using the ID mapping API of Uniprot in September 2018. The number of proteins identified and mapped without ambiguity in these studies is indicated below.
Only Swiss-Prot entries (reviewed) were considered for protein evidence assignation.
| Publication | Identification 1 | Uniprot mapping 2 | Not mapped / Obsolete | TrEMBL | Swiss-Prot |
|---|---|---|---|---|---|
| Goodman (2013) | 2289 (gene list) | 2278 | 53 | 20599 | 2269 |
| Lange (2014) | 1234 | 1234 | 7 | 28 | 1224 |
| Hegedus (2015) | 2638 | 2622 | 0 | 235 | 2387 |
| Wilson (2016) | 1658 | 1528 | 170 | 291 | 1068 |
| d'Alessandro (2017) | 1826 | 1817 | 2 | 0 | 1815 |
| Bryk (2017) | 2090 | 2060 | 10 | 108 | 1942 |
| Chu (2018) | 1853 | 1804 | 55 | 362 | 1387 |
1 as available in the article and/or in supplementary material
2 uniprot mapping returns all protein isoforms as one entry
The compilation of older studies can be retrieved from the Red Blood Cell Collection database.
The data and differentiation stages presented below come from the proteomic study and analysis performed by our partners of the GReX consortium, more details are available in their published work.
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No binding partner found
No information from the Gene Ontology is available for this entry.
The reference OMIM entry for this protein is 608598
Cancer susceptibility candidate 2; casc2
CLONING
Using a positional candidate approach, Baldinu et al. (2004) identified 3 alternative transcripts of a novel gene, CASC2, located in a candidate deletion interval on chromosome 10 associated with endometrial cancer (see 601728). By RT-PCR and 5-prime and 3-prime RACE of placenta mRNA, they cloned 1 of the variants, CASC2a, which encodes a deduced 102-amino acid protein with a calculated molecular mass of about 12 kD. CASC2a contains no transmembrane domain and is likely expressed in the nucleus. Northern blot analysis detected 1.7- and 4.3-kb CASC2 transcripts in all tissues examined.GENE FUNCTION
By real-time RT-PCR, Baldinu et al. (2004) found that expression of CASC2a was downregulated in endometrial or colorectal cancers relative to normal tissues, and it was expressed in cancer cell lines at an even lower level. The authors identified 3 CASC2a mutations in 44 endometrial cancers (7%), a low mutation rate that suggested that inactivation of CASC2 is likely due to mechanisms other than genetic alteration.GENE STRUCTURE
Baldinu et al. (2004) determined that the CASC2 gene contains 7 exons. The upstream sequence contains a CpG island.MAPPING
By genomic sequence analysis, Baldinu et al. (2004) mapped the CASC2 gene to chromosome 10q26, where it lies telomeric to the RAB11FIP2 gene (608599) in a head-to-head orientation. CASC2 and RAB11FIP2 may share a common promoter region. ... More on the omim web site
Feb. 23, 2019: Protein entry updated
Automatic update: comparative model was added.
Feb. 23, 2019: Protein entry updated
Automatic update: model status changed
Oct. 20, 2018: Protein entry updated
Automatic update: OMIM entry 608598 was added.
Oct. 19, 2018: Additional information
Initial protein addition to the database. This entry was referenced in Bryk and co-workers. (2017).