SDCCAG8
| SDCCAG8 | |||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Identifiers | |||||||||||||||||
| Aliases | SDCCAG8, BBS16, CCCAP, CCCAP SLSN7, NPHP10, NY-CO-8, SLSN7, hCCCAP, HSPC085, serologically defined colon cancer antigen 8 | ||||||||||||||||
| External IDs | MGI: 1924066 HomoloGene: 4839 GeneCards: SDCCAG8 | ||||||||||||||||
| Genetically Related Diseases | |||||||||||||||||
| schizophrenia, morbid obesity[1] | |||||||||||||||||
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| Orthologs | |||||||||||||||||
| Species | Human | Mouse | |||||||||||||||
| Entrez | |||||||||||||||||
| Ensembl |
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| UniProt | |||||||||||||||||
| RefSeq (mRNA) | |||||||||||||||||
| RefSeq (protein) | |||||||||||||||||
| Location (UCSC) | Chr 1: 243.26 – 243.5 Mb | Chr 1: 176.81 – 177.02 Mb | |||||||||||||||
| PubMed search | [2] | [3] | |||||||||||||||
| Wikidata | |||||||||||||||||
| View/Edit Human | View/Edit Mouse |
Serologically defined colon cancer antigen 8 is a protein that in humans is encoded by the SDCCAG8 gene.[4][5] This protein localizes to the centrioles.[6]
Clinical significance
Mutations in SDCCAG8 have been found to cause nephronophthisis-related ciliopathies.[6]
Interactions
SDCCAG8 has been shown to interact directly with OFD1, a protein that is also associated with nephronophthisis-related ciliopathies.[6]
References
- ↑ "Diseases that are genetically associated with SDCCAG8 view/edit references on wikidata".
- ↑ "Human PubMed Reference:".
- ↑ "Mouse PubMed Reference:".
- ↑ Scanlan MJ, Chen YT, Williamson B, Gure AO, Stockert E, Gordan JD, Tureci O, Sahin U, Pfreundschuh M, Old LJ (Jun 1998). "Characterization of human colon cancer antigens recognized by autologous antibodies". Int J Cancer. 76 (5): 652–8. doi:10.1002/(SICI)1097-0215(19980529)76:5<652::AID-IJC7>3.0.CO;2-P. PMID 9610721.
- ↑ "Entrez Gene: SDCCAG8 serologically defined colon cancer antigen 8".
- 1 2 3 Otto EA, Hurd TW, Airik R, et al. (October 2010). "Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy". Nat. Genet. 42 (10): 840–50. doi:10.1038/ng.662. PMC 2947620
. PMID 20835237.
Further reading
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Brandenberger R, Wei H, Zhang S, et al. (2005). "Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.". Nat. Biotechnol. 22 (6): 707–16. doi:10.1038/nbt971. PMID 15146197.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Andersen JS, Wilkinson CJ, Mayor T, et al. (2003). "Proteomic characterization of the human centrosome by protein correlation profiling.". Nature. 426 (6966): 570–4. doi:10.1038/nature02166. PMID 14654843.
- Kenedy AA, Cohen KJ, Loveys DA, et al. (2003). "Identification and characterization of the novel centrosome-associated protein CCCAP.". Gene. 303: 35–46. doi:10.1016/S0378-1119(02)01141-1. PMID 12559564.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Zhang QH, Ye M, Wu XY, et al. (2001). "Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.". Genome Res. 10 (10): 1546–60. doi:10.1101/gr.140200. PMC 310934. PMID 11042152.
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