SLCtables

SLC12A8

Protein name: CCC9 Aliases: N/D Substrates: unknown Transport type: N/D Tissue and cellular expression: extensive Subcellular expression: N/D Disease: N/D Locus: 3q21 Sequence ID: NP_001182412.1, NM_001195483.1 NP_078904.3, NM_024628.5 Gene ID: 84561 Splice variants: N/D

S12A8_HUMAN (UniProt)

Gene names: SLC12A8, CCC9
Protein names and data: S12A8_HUMAN, Full=Solute carrier family 12 member 8, Full=Cation-chloride cotransporter 9; Length: 714 a.a., Mass: 78223 Da,
fasta formatted sequence
Function: Cation/chloride cotransporter that may play a role in the control of keratinocyte proliferation
Disease: (OMIM: 611316) Note=SLC12A8 has been identified as a possible susceptibility gene for psoriasis mapped to chromosome 3q21 (PSORS5)
Cellular location: Membrane; Multi-pass membrane protein (Potential)
Tissue specificity: Ubiquitous with very low level in normal skin

Database cross-references

UniProt: A0AV02
NextBio: 74454
OMIM: 611316
Ensembl: ENST00000469902
GeneCard: GC03M125082
PharmGenUCSF: SLC12A8
Guide to Pharmacology: SLC12A8 (975)
SLC12 family of cation-coupled chloride transporters (975)
HGNC: HGNC:15595

Genetic variants

See also Ensembl:ENST00000469902

181 - 181 R -> C (in dbSNP:rs2993631). VAR_035199 2993631
266 - 266 P -> L (in dbSNP:rs863642). VAR_035200 863642
281 - 281 I -> V (in dbSNP:rs621383). VAR_062148 621383
541 - 541 K -> R (in dbSNP:rs6773138). VAR_035201 6773138
664 - 664 R -> Q (in dbSNP:rs2981482). VAR_035202 2981482