From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
SDCCAG8 Identifiers
Aliases
SDCCAG8 , BBS16, CCCAP, CCCAP SLSN7, NPHP10, NY-CO-8, SLSN7, hCCCAP, HSPC085, serologically defined colon cancer antigen 8, SHH signaling and ciliogenesis regulator SDCCAG8External IDs
OMIM :
613524 ;
MGI :
1924066 ;
HomoloGene :
4839 ;
GeneCards :
SDCCAG8 ;
OMA :
SDCCAG8 - orthologs
Wikidata
Serologically defined colon cancer antigen 8 is a
protein that in humans is encoded by the SDCCAG8
gene .
[5]
[6] This protein localizes to the
centrioles .
[7]
Mutations in SDCCAG8 have been found to cause
nephronophthisis -related
ciliopathies .
[7]
SDCCAG8 has been shown to interact directly with
OFD1 , a protein that is also associated with nephronophthisis-related ciliopathies.
[7]
^
a
b
c
ENSG00000276111 GRCh38: Ensembl release 89: ENSG00000054282, ENSG00000276111 –
Ensembl , May 2017
^
a
b
c
GRCm38: Ensembl release 89: ENSMUSG00000026504 –
Ensembl , May 2017
^
"Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^
"Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ 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" .
^
a
b
c 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 .
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 .
S2CID
27764390 .
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.
Bibcode :
2003Natur.426..570A .
doi :
10.1038/nature02166 .
PMID
14654843 .
S2CID
4427303 .
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.
Bibcode :
2002PNAS...9916899M .
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 .