• Gene id: 84561

Gene Summary

• Gene Symbol: SLC12A8   Gene   UCSC   Ensembl
• Aliases: CCC9
• Gene name: solute carrier family 12 member 8
• Alternate names: solute carrier family 12 member 8, cation-chloride cotransporter 9, solute carrier family 12 (sodium/potassium/chloride transporters), member 8,
• Gene location: 3q21.2 (125212764: 125082635)     Exons: 14     NC_000003.12
• Gene summary(Entrez): This gene is thought to be a candidate for psoriasis susceptibility. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Sep
• OMIM: 609086

Protein Summary

• Protein general information: A0AV02  
  • Name: Solute carrier family 12 member 8 (Cation chloride cotransporter 9)
  • Length: 714  
  • Mass: 78239
  • Tissue specificity: Ubiquitous with very low level in normal skin. {ECO
• Sequence:

  MTQMSQVQELFHEAAQQDALAQPQPWWKTQLFMWEPVLFGTWDGVFTSCMINIFGVVLFLRTGWLVGNTGVLLGM
  FLVSFVILVALVTVLSGIGVGERSSIGSGGVYSMISSVLGGQTGGTIGLLYVFGQCVAGAMYITGFAESISDLLG
  LGNIWAVRGISVAVLLALLGINLAGVKWIIRLQLLLLFLLAVSTLDFVVGSFTHLDPEHGFIGYSPELLQNNTLP
  DYSPGESFFTVFGVFFPAATGVMAGFNMGGDLREPAASIPLGSLAAVGISWFLYIIFVFLLGAICTREALRYDFL
  IAEKVSLMGFLFLLGLYISSLASCMGGLYGAPRILQCIAQEKVIPALACLGQGKGPNKTPVAAICLTSLVTMAFV
  FVGQVNVLAPIVTINFMLTYVAVDYSYFSLSMCSCSLTPVPEPVLREGAEGLHCSEHLLLEKAPSYGSEGPAQRV
  LEGTLLEFTKDMDQLLQLTRKLESSQPRQGEGNRTPESQKRKSKKATKQTLQDSFLLDLKSPPSFPVEISDRLPA
  ASWEGQESCWNKQTSKSEGTQPEGTYGEQLVPELCNQSESSGEDFFLKSRLQEQDVWRRSTSFYTHMCNPWVSLL
  GAVGSLLIMFVIQWVYTLVNMGVAAIVYFYIGRASPGLHLGSASNFSFFRWMRSLLLPSCRSLRSPQEQIILAPS
  LAKVDMEMTQLTQENADFATRDRYHHSSLVNREQLMPHY

• Structural information:
  • Interpro: IPR004841  
  • STRING: ENSP00000377112
• Other Databases: GeneCards:  SLC12A8  Malacards:  SLC12A8

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1990573	potassium ion import across plasma membrane	IBA	biological process
GO:0006884	cell volume homeostasis	IBA	biological process
GO:0015379	potassium:chloride symporter activity	IBA	molecular function
GO:0055064	chloride ion homeostasis	IBA	biological process
GO:0055075	potassium ion homeostasis	IBA	biological process
GO:1902476	chloride transmembrane transport	IBA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0006813	potassium ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006811	ion transport	IEA	biological process
GO:0015293	symporter activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0016020	membrane	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq