SLC12A8

Gene Information
 
Gene Symbol
SLC12A8
 
Aliases
CCC9
 
Entrez Gene ID
 
Gene Name
Solute carrier family 12 member 8
 
Chromosomal Location
3q21.2
 
HGNC ID
 
Summary
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 2010]
 
RefSeq DNA
 
RefSeq mRNA
  e!Ensembl
Gene
Transcript  
Protein

Gene Ontology (GO)

GO ID Ontology Function Evidence Reference
GO:0006884 Biological process Cell volume homeostasis IBA 21873635
GO:0055064 Biological process Chloride ion homeostasis IBA 21873635
GO:0055075 Biological process Potassium ion homeostasis IBA 21873635
GO:1902476 Biological process Chloride transmembrane transport IBA 21873635
GO:1990573 Biological process Potassium ion import across plasma membrane IBA 21873635
Protein Information
 
Protein Name
Solute carrier family 12 member 8, cation-chloride cotransporter 9, solute carrier family 12 (sodium/potassium/chloride transporters), member 8
 
Function
Cation/chloride cotransporter that may play a role in the control of keratinocyte proliferation.
 
Refseq Proteins
 
UniProt
Interactions
 
STRING MINT IntAct
ENSP00000377112 A0AV02 A0AV02
    View interactions
     

Associated Diseases

Disease groupDisease NameReferences
Endocrine System Diseases
PCOS
Skin and Connective Tissue Diseases
Psoriasis
References
 
 
PubMed ID Associated gene/s Associated condition Genetic Mutation Diagnostic Criteria Association with PCOS Ethnicity Conclusion
 
PCOS, Lipid and Steroid metabolism 
 
Rotterdam Criteria 
Direct 
79 PCOs patients and 93 controls 
The results of qPCR showed that the expression of related genes were in accordance with the RNA-seq analysis results. 

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