Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10806
Gene name	SHH signaling and ciliogenesis regulator SDCCAG8
Gene symbol	SDCCAG8
Synonyms (NCBI Gene)	BBS16CCCAPCCCAP SLSN7HSPC085NPHP10NY-CO-8SLSN7hCCCAP
Chromosome	1
Chromosome location	1q43-q44
Summary	This gene encodes a centrosome associated protein. This protein may be involved in organizing the centrosome during interphase and mitosis. Mutations in this gene are associated with retinal-renal ciliopathy. [provided by RefSeq, Oct 2010]

Show/Hide all (21)

SNP ID	Visualize variation	Clinical significance	Consequence
rs143407309	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, intron variant, genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant
rs148818431	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	5 prime UTR variant, non coding transcript variant, synonymous variant, coding sequence variant, genic upstream transcript variant
rs149359674	G>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant, intron variant, genic upstream transcript variant
rs150070966	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, intron variant, genic upstream transcript variant
rs267607031	A>T	Pathogenic	Genic upstream transcript variant, non coding transcript variant, intron variant, coding sequence variant, 5 prime UTR variant, stop gained
rs387906218	->G	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant
rs397515336	GTGT>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic downstream transcript variant
rs397515337	C>T	Pathogenic	5 prime UTR variant, intron variant, genic upstream transcript variant
rs587777846	ATAG>-	Pathogenic	Frameshift variant, non coding transcript variant, intron variant, genic downstream transcript variant, coding sequence variant
rs756907665	G>A	Likely-pathogenic	Genic upstream transcript variant, splice donor variant
rs770084716	C>G,T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant, stop gained
rs778900414	G>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant, non coding transcript variant
rs797045946	A>G	Pathogenic	Splice acceptor variant, genic upstream transcript variant
rs797045947	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, 5 prime UTR variant, non coding transcript variant
rs797045948	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, stop gained, intron variant, 5 prime UTR variant, non coding transcript variant
rs1286714661	C>T	Likely-pathogenic	Stop gained, genic downstream transcript variant, non coding transcript variant, coding sequence variant, intron variant
rs1390963789	A>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1460888769	G>A	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1558264626	T>-	Pathogenic	Intron variant, 5 prime UTR variant, stop gained, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs1573920009	C>T	Pathogenic	Intron variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained
rs1573930690	G>A	Likely-pathogenic	Splice donor variant, intron variant, genic downstream transcript variant

Show/Hide all (46)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017025	hsa-miR-335-5p	Microarray	18185580
MIRT022273	hsa-miR-124-3p	Microarray	18668037
MIRT1331653	hsa-miR-1205	CLIP-seq
MIRT1331654	hsa-miR-1224-5p	CLIP-seq
MIRT1331655	hsa-miR-3929	CLIP-seq
MIRT1331656	hsa-miR-4286	CLIP-seq
MIRT1331657	hsa-miR-4323	CLIP-seq
MIRT1331658	hsa-miR-4418	CLIP-seq
MIRT1331659	hsa-miR-4419b	CLIP-seq
MIRT1331660	hsa-miR-4478	CLIP-seq
MIRT1331661	hsa-miR-4751	CLIP-seq
MIRT1331662	hsa-miR-4758-3p	CLIP-seq
MIRT1331663	hsa-miR-509-3-5p	CLIP-seq
MIRT1331664	hsa-miR-509-5p	CLIP-seq
MIRT2322694	hsa-miR-3688-5p	CLIP-seq
MIRT2322695	hsa-miR-4440	CLIP-seq
MIRT2322696	hsa-miR-4466	CLIP-seq
MIRT2322697	hsa-miR-4474-3p	CLIP-seq
MIRT2322698	hsa-miR-493	CLIP-seq
MIRT2322699	hsa-miR-675	CLIP-seq
MIRT1331653	hsa-miR-1205	CLIP-seq
MIRT2618765	hsa-miR-28-5p	CLIP-seq
MIRT2618766	hsa-miR-3139	CLIP-seq
MIRT2618767	hsa-miR-3194-3p	CLIP-seq
MIRT2618768	hsa-miR-3197	CLIP-seq
MIRT1331655	hsa-miR-3929	CLIP-seq
MIRT1331656	hsa-miR-4286	CLIP-seq
MIRT1331657	hsa-miR-4323	CLIP-seq
MIRT1331658	hsa-miR-4418	CLIP-seq
MIRT1331659	hsa-miR-4419b	CLIP-seq
MIRT1331660	hsa-miR-4478	CLIP-seq
MIRT2618769	hsa-miR-4649-3p	CLIP-seq
MIRT2618770	hsa-miR-4733-3p	CLIP-seq
MIRT1331662	hsa-miR-4758-3p	CLIP-seq
MIRT1331663	hsa-miR-509-3-5p	CLIP-seq
MIRT1331664	hsa-miR-509-5p	CLIP-seq
MIRT2618771	hsa-miR-665	CLIP-seq
MIRT2618772	hsa-miR-708	CLIP-seq
MIRT2618773	hsa-miR-767-3p	CLIP-seq
MIRT2618765	hsa-miR-28-5p	CLIP-seq
MIRT2618766	hsa-miR-3139	CLIP-seq
MIRT2618767	hsa-miR-3194-3p	CLIP-seq
MIRT2618770	hsa-miR-4733-3p	CLIP-seq
MIRT2618771	hsa-miR-665	CLIP-seq
MIRT2618772	hsa-miR-708	CLIP-seq
MIRT2618773	hsa-miR-767-3p	CLIP-seq

Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001764	Process	Neuron migration	IBA
GO:0001764	Process	Neuron migration	IEA
GO:0005515	Function	Protein binding	IPI	20835237, 22190034, 22940612, 27224062, 32814053, 33961781
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IBA
GO:0005813	Component	Centrosome	IDA	21399614
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IBA
GO:0005814	Component	Centriole	IDA	20835237
GO:0005814	Component	Centriole	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005911	Component	Cell-cell junction	IDA	20835237
GO:0005929	Component	Cilium	IDA
GO:0007098	Process	Centrosome cycle	IEA
GO:0030010	Process	Establishment of cell polarity	IBA
GO:0030010	Process	Establishment of cell polarity	IEA
GO:0030010	Process	Establishment of cell polarity	ISS
GO:0030030	Process	Cell projection organization	IEA
GO:0031023	Process	Microtubule organizing center organization	IBA
GO:0031023	Process	Microtubule organizing center organization	IEA
GO:0034451	Component	Centriolar satellite	IEA
GO:0035148	Process	Tube formation	IBA
GO:0035148	Process	Tube formation	IEA
GO:0035148	Process	Tube formation	ISS
GO:0036064	Component	Ciliary basal body	IDA
GO:0036064	Component	Ciliary basal body	IEA
GO:0042995	Component	Cell projection	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0097733	Component	Photoreceptor cell cilium	IEA
GO:1902017	Process	Regulation of cilium assembly	IEA
GO:1902017	Process	Regulation of cilium assembly	IMP	27224062

MIM	HGNC	e!Ensembl
613524	10671	ENSG00000054282

Q86SQ7

Protein name

Serologically defined colon cancer antigen 8 (Antigen NY-CO-8) (Centrosomal colon cancer autoantigen protein) (hCCCAP)

Protein function

Plays a role in the establishment of cell polarity and epithelial lumen formation (By similarity). Also plays an essential role in ciliogenesis and subsequent Hedgehog signaling pathway that requires the presence of intact primary cilia for path

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15964	CCCAP	6 → 706	Centrosomal colon cancer autoantigen protein family	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in thymus, prostate, testis, ovary, small intestine, colon, mucosa, colon and renal cancer tumors. {ECO:0000269|PubMed:9610721}.

Sequence

MAKSPENSTLEEILGQYQRSLREHASRSIHQLTCALKEGDVTIGEDAPNLSFSTSVGNED
ARTAWPELQQSHAVNQLKDLLRQQADKESEVSPSRRRKMSPLRSLEHEETNMPTMHDLVH
TINDQSQYIHHLEAEVKFCKEELSGMKNKIQVVVLENEGLQQQLKSQRQEETLREQTLLD
ASGNMHNSWITTGEDSGVGETSKRPFSHDNADFGKAASAGEQLELEKLKLTYEEKCEIEE
SQLKFLRNDLAEYQRTCEDLKEQLKHKEFLLAANTCNRVGGLCLKCAQHEAVLSQTHTNV
HMQTIERLVKERDDLMSALVSVRSSLADTQQREASAYEQVKQVLQISEEANFEKTKALIQ
CDQLRKELERQAERLEKELASQQEKRAIEKDMMKKEITKEREYMGSKMLILSQNIAQLEA
QVEKVTKEKISAINQLEEIQSQLASREMDVTKVCGEMRYQLNKTNMEKDEAEKEHREFRA
KTNRDLEIKDQEIEKLRIELDESKQHLEQEQQKAALAREECLRLTELLGESEHQLHLTRQ
EKDSIQQSFSKEAKAQALQAQQREQELTQKIQQMEAQHDKTENEQYLLLTSQNTFLTKLK
EECCTLAKKLEQISQKTRSEIAQLSQEKRYTYDKLGKLQRRNEELEEQCVQHGRVHETMK
QRLRQLDKHSQATAQQLVQLLSKQNQLLLERQSLSEEVDRLRTQLPSMPQSDC

Sequence length

713

Interactions

View interactions

	Reactome
			Regulation of PLK1 Activity at G2/M Transition Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes Loss of proteins required for interphase microtubule organization from the centrosome Recruitment of NuMA to mitotic centrosomes Anchoring of the basal body to the plasma membrane AURKA Activation by TPX2

1244

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Bardet-Biedl syndrome	Pathogenic; Likely pathogenic	rs149038104, rs2147782314, rs397515335, rs397515337, rs2547886067, rs797045948, rs2528455666, rs1286714661, rs1390963789, rs772544112	RCV005361591 RCV001779472 RCV000625956 RCV002265541 RCV002308690 RCV001731515 RCV003123461 RCV004767416 RCV005357989 RCV002469330
Bardet-Biedl syndrome 16	Likely pathogenic; Pathogenic	rs752046196, rs2070433656, rs149038104, rs964673995, rs2147782314, rs2149263988, rs1442457872, rs201658593, rs397515335, rs397515337, rs267607031, rs587777846, rs587777847, rs2528456354, rs2547828052 View all (31 more)	RCV001998335 RCV001377051 RCV001382396 RCV001384058 RCV002541103 RCV001999852 RCV002047017 RCV001932690 RCV001056393 RCV000000077 RCV000000078 RCV000144681 RCV000144682 RCV002280293 RCV003086106 RCV002651436 RCV002602013 RCV002587370 RCV002720132 RCV002775143 RCV002811519 RCV002796068 RCV000760977 RCV001390072 RCV002517977 RCV002811785 RCV002842727 RCV002910029 RCV001859669 RCV003778259 RCV003791970 RCV003807753 RCV003812502 RCV003990904 RCV002530371 RCV000685971 RCV001868922 RCV002533866 RCV002535630 RCV000785890 RCV000809898 RCV000804204 RCV001049952 RCV001040226 RCV001175223 RCV001197817 RCV001207765 RCV002932081
Focal segmental glomerulosclerosis	Likely pathogenic	rs2547851230	RCV002294655
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs756907665	RCV005901609
Renal dysplasia and retinal aplasia	Pathogenic	rs1573920009	RCV001003222
SDCCAG8-related disorder	Likely pathogenic; Pathogenic	rs752046196, rs964673995, rs397515337, rs766013756, rs797045947, rs797045948, rs766435425, rs1286714661, rs756907665, rs770084716, rs772544112	RCV004529074 RCV004734163 RCV004532265 RCV004534169 RCV004530146 RCV004530147 RCV004529261 RCV004735634 RCV004535707 RCV004535915 RCV004735940
Senior-Loken syndrome 7	Likely pathogenic; Pathogenic	rs752046196, rs2070433656, rs149038104, rs964673995, rs747911477, rs2147782314, rs2149263988, rs1442457872, rs201658593, rs397515335, rs387906218, rs397515336, rs397515337, rs267607031, rs587777847 View all (31 more)	RCV001998335 RCV001377051 RCV001382396 RCV001384058 RCV001549292 RCV002541103 RCV001999852 RCV002047017 RCV001932690 RCV000000074 RCV000000075 RCV000000076 RCV000760978 RCV003764499 RCV001227923 RCV003086106 RCV002651436 RCV002602013 RCV002587370 RCV002720132 RCV002775143 RCV002811519 RCV002796068 RCV000194923 RCV000193333 RCV000194004 RCV002811785 RCV002842727 RCV002910029 RCV001859669 RCV003778259 RCV003791970 RCV003807753 RCV003812502 RCV002530371 RCV000685971 RCV001868922 RCV000761352 RCV002535630 RCV005029443 RCV000809898 RCV000804204 RCV001049952 RCV001040226 RCV001207765 RCV002932081

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Familial cancer of breast	Likely benign	rs371148493	RCV005907152
Hepatocellular carcinoma	Uncertain significance	rs763284045	RCV005932064
Kidney disorder	Uncertain significance; Benign; Conflicting classifications of pathogenicity	rs752567022, rs766782728, rs976529, rs201869920, rs556191085, rs377564587	RCV002294604 RCV002294664 RCV002294164 RCV002294338 RCV002294436 RCV002294452
Retinal dystrophy	Conflicting classifications of pathogenicity	rs201869920	RCV004817723
Sarcoma	Conflicting classifications of pathogenicity	rs376414138	RCV005907143
Uterine corpus endometrial carcinoma	Uncertain significance	rs1573930690	RCV005912116

Show/Hide Text Mining Associations (20)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Albuminuria	Associate	24157943
Bardet Biedl Syndrome	Associate	21052717, 22773737, 31534065, 35112343
Bipolar Disorder	Associate	27759212
Callosities	Associate	21934713
Ciliopathies	Associate	29455858
Cone Rod Dystrophies	Associate	31534065
Kidney Diseases	Associate	24157943, 34632641
Kidney Failure Chronic	Associate	24157943, 31534065, 40725491
Leber Congenital Amaurosis	Associate	40725491
Melanoma Cutaneous Malignant	Associate	34375487
Nephronophthisis familial juvenile	Associate	31534065, 34632641
Obesity	Associate	22095114, 31534065
Ocular Motility Disorders	Associate	31534065
Opioid Related Disorders	Associate	32099098
Overweight	Associate	22095114
Polydactyly	Associate	31534065
Renal Insufficiency	Associate	35112343
Schizophrenia	Associate	22614287, 32099098
Senior Loken Syndrome	Associate	40725491
Weight Loss	Inhibit	22095114

SDCCAG8 (SHH signaling and ciliogenesis regulator SDCCAG8)