SDCCAG8

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 SDCCAG8
External IDs	OMIM: 613524 MGI: 1924066 HomoloGene: 4839 GeneCards: SDCCAG8
Gene location (Human)
Chr.	Chromosome 1 (human)
End	243,500,091 bp
Gene location (Mouse)
Chr.	Chromosome 1 (mouse)
End	177,020,437 bp
RNA expression pattern
	Top expressed in
	corpus callosum; ; Achilles tendon; ; thyroid gland; ; bone marrow cells; ; left lobe of thyroid gland; ; right lobe of thyroid gland; ; sural nerve; ; right lung; ; thymus; ; right uterine tube;
	Top expressed in
	ascending aorta; ; aortic valve; ; spermatocyte; ; spermatid; ; proximal tubule; ; Paneth cell; ; ganglionic eminence; ; supraoptic nucleus; ; superior frontal gyrus; ; fossa;
	More reference expression data
	n/a
Gene ontology
Molecular function	protein binding ;
Cellular component	cytoplasm ; cytosol ; cell junction ; centriolar satellite ; cytoskeleton ; cell-cell junction ; centrosome ; centriole ; microtubule organizing center ; cell projection ;
Biological process	neuron migration ; G2/M transition of mitotic cell cycle ; microtubule organizing center organization ; establishment of cell polarity ; tube formation ; ciliary basal body-plasma membrane docking ; centrosome cycle ; regulation of G2/M transition of mitotic cell cycle ; regulation of cilium assembly ; cell projection organization ;
	Sources:Amigo / QuickGO
Orthologs
	10806
	76816
	ENSG00000054282 ; ENSG00000276111
	ENSMUSG00000026504
	Q86SQ7
	Q80UF4
NM_006642 ; NM_001350246 ; NM_001350247 ; NM_001350248 ; NM_001350249 ;
	NM_001350251
	NM_029756 ; NM_001357390
NP_006633 ; NP_001337175 ; NP_001337176 ; NP_001337177 ; NP_001337178 ;
	NP_001337180
	NP_084032 ; NP_001344319
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated October 12, 2022

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]

Clinical significance

Mutations in SDCCAG8 have been found to cause nephronophthisis-related ciliopathies.^[7]

Interactions

SDCCAG8 has been shown to interact directly with OFD1, a protein that is also associated with nephronophthisis-related ciliopathies.^[7]

Related Research Articles

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References

1 2 3 ENSG00000276111 GRCh38: Ensembl release 89: ENSG00000054282, ENSG00000276111 - Ensembl, May 2017
1 2 3 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".
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.

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.

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[refGRCh38Ensembl-1] 1 2 3 ENSG00000276111 GRCh38: Ensembl release 89: ENSG00000054282, ENSG00000276111 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000026504 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid9610721-5] 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-6] "Entrez Gene: SDCCAG8 serologically defined colon cancer antigen 8".

[pmid20835237-7] 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.

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v t e Ciliary proteins
Nephrocystin	NPHP1 INVS NPHP3 NPHP4 IQCB1 CEP290 GLIS2 RPGRIP1L
Basal body	BBsome BBS1 BBS2 BBS4 BBS5 BBS7 TTC8 BBS9 chaperone MKKS BBS10 BBS12 Other ARL6 TRIM32 ALMS1 CC2D2A CEP290 MKS1 RPGRIP1L OFD1 AHI1 INVS NPHP4 NEK8 NPHP1
Cilia	connecting cilia LCA5 RP1 RPGR RPGRIP1 TULP1 primary cilia ARL13B INPP5E IQCB1 PKHD1 PKD1 PKD2 TMEM67
Dynein	outer dynein arms DNAH5 DNAI2 DNAL1 axoneme DNAH11 DNAI1
Radial spokes	RSPH1 RSPH3 RSPH4A RSPH6A RSPH9 RSPH10B
Other	cytoplasm KTU nucleus GLIS2 intraflagellar transport IFT80 other AHI1 ARL13B BRCC3 INPP5E KIF3A LRRC50 SDCCAG8 TMEM216 TXNDC3
see also: ciliopathy

SDCCAG8

Contents

Clinical significance

Interactions

Related Research Articles

References

Further reading