• Gene id: 10806

Gene Summary

• Gene Symbol: SDCCAG8   Gene   UCSC   Ensembl
• Aliases: BBS16, CCCAP, CCCAP SLSN7, HSPC085, NPHP10, NY-CO-8, SLSN7, hCCCAP
• Gene name: SHH signaling and ciliogenesis regulator SDCCAG8
• Alternate names: serologically defined colon cancer antigen 8, Bardet-Biedl syndrome 16, antigen NY-CO-8, centrosomal colon cancer autoantigen protein, nephrocystin 10,
• Gene location: 1q43-q44 (243255417: 243503682)     Exons: 27     NC_000001.11
• Gene summary(Entrez): 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]
• OMIM: 613524

Protein Summary

• Protein general information: Q86SQ7  
  • Name: Serologically defined colon cancer antigen 8 (Antigen NY CO 8) (Centrosomal colon cancer autoantigen protein) (hCCCAP)
  • Length: 713  
  • Mass: 82682
  • Tissue specificity: Expressed in thymus, prostate, testis, ovary, small intestine, colon, mucosa, colon and renal cancer tumors. {ECO
• Sequence:

  MAKSPENSTLEEILGQYQRSLREHASRSIHQLTCALKEGDVTIGEDAPNLSFSTSVGNEDARTAWPELQQSHAVN
  QLKDLLRQQADKESEVSPSRRRKMSPLRSLEHEETNMPTMHDLVHTINDQSQYIHHLEAEVKFCKEELSGMKNKI
  QVVVLENEGLQQQLKSQRQEETLREQTLLDASGNMHNSWITTGEDSGVGETSKRPFSHDNADFGKAASAGEQLEL
  EKLKLTYEEKCEIEESQLKFLRNDLAEYQRTCEDLKEQLKHKEFLLAANTCNRVGGLCLKCAQHEAVLSQTHTNV
  HMQTIERLVKERDDLMSALVSVRSSLADTQQREASAYEQVKQVLQISEEANFEKTKALIQCDQLRKELERQAERL
  EKELASQQEKRAIEKDMMKKEITKEREYMGSKMLILSQNIAQLEAQVEKVTKEKISAINQLEEIQSQLASREMDV
  TKVCGEMRYQLNKTNMEKDEAEKEHREFRAKTNRDLEIKDQEIEKLRIELDESKQHLEQEQQKAALAREECLRLT
  ELLGESEHQLHLTRQEKDSIQQSFSKEAKAQALQAQQREQELTQKIQQMEAQHDKTENEQYLLLTSQNTFLTKLK
  EECCTLAKKLEQISQKTRSEIAQLSQEKRYTYDKLGKLQRRNEELEEQCVQHGRVHETMKQRLRQLDKHSQATAQ
  QLVQLLSKQNQLLLERQSLSEEVDRLRTQLPSMPQSDC

• Structural information:
  • Interpro: IPR031887  
  • STRING: ENSP00000355499
• Other Databases: GeneCards:  SDCCAG8  Malacards:  SDCCAG8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0035148	tube formation	IBA	biological process
GO:0030010	establishment of cell polarity	IBA	biological process
GO:0005813	centrosome	IBA	cellular component
GO:0001764	neuron migration	IBA	biological process
GO:0031023	microtubule organizing center organization	IBA	biological process
GO:0005814	centriole	IBA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0035148	tube formation	ISS	biological process
GO:0030010	establishment of cell polarity	ISS	biological process
GO:1902017	regulation of cilium assembly	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005813	centrosome	IEA	cellular component
GO:0007098	centrosome cycle	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0030030	cell projection organization	IEA	biological process
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0000086	G2/M transition of mitotic cell cycle	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0010389	regulation of G2/M transition of mitotic cell cycle	TAS	biological process
GO:0097711	ciliary basal body-plasma membrane docking	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0097733	photoreceptor cell cilium	IEA	cellular component
GO:0034451	centriolar satellite	IEA	cellular component
GO:0031023	microtubule organizing center organization	IEA	biological process
GO:0005814	centriole	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:1902017	regulation of cilium assembly	IEA	biological process
GO:0036064	ciliary basal body	IEA	cellular component
GO:0035148	tube formation	IEA	biological process
GO:0030010	establishment of cell polarity	IEA	biological process
GO:0005813	centrosome	IEA	cellular component
GO:0001764	neuron migration	IEA	biological process
GO:0030054	cell junction	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005814	centriole	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005813	centrosome	IDA	cellular component
GO:0005814	centriole	IDA	cellular component
GO:0005911	cell-cell junction	IDA	cellular component

Diseases

Associated diseases	References
Nephronophthisis	KEGG:H00537
Bardet-Biedl syndrome	KEGG:H00418
Senior-Loken syndrome	KEGG:H00538
Nephronophthisis	KEGG:H00537
Bardet-Biedl syndrome	KEGG:H00418
Senior-Loken syndrome	KEGG:H00538
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray