Protein name: KCC3 Aliases: N/D Substrates: K+, Cl- Transport type: N/D Tissue and cellular expression: extensive Subcellular expression: N/D Disease: ACCPN (Andermann syndrome) Locus: 15q14 Sequence ID: NP_001035959.1, NM_001042494.1 NP_001035960.1, NM_001042495.1 NP_001035961.1, NM_001042496.1 NP_001035962.1, NM_001042497.1 NP_005126.1, NM_005135.2 NP_598408.1, NM_133647.1 Gene ID: 9990 Splice variants: N/D

S12A6_HUMAN (UniProt)

Gene names: SLC12A6, KCC3
Protein names and data: S12A6_HUMAN, Full=Solute carrier family 12 member 6, Full=Electroneutral potassium-chloride cotransporter 3;Full=K-Cl cotransporter 3; Length: 1150 a.a., Mass: 127617 Da,
fasta formatted sequence

Function: Mediates electroneutral potassium-chloride cotransport. May be activated by cell swelling. May contribute to cell volume homeostasis in single cells
Cellular location: Basolateral cell membrane; Multi-pass membrane protein (By similarity)
Tissue specificity: Highly expressed in heart, brain and kidney. Detected at lower levels in skeletal muscle, placenta, lung and pancreas. Detected in umbilical vein endothelial cells. Isoform 2 is more abundant in kidney. Isoform 5 is testis specific. Expressed in the proximal tubule of the kidney (at protein level)

Database cross-references

UniProt: Q9UHW9
NextBio: 37729
OMIM: 218000 604878
Ensembl: ENST00000560611
GeneCard: GC15M034229
TCDB: 2.A.30.5.3
PharmGenUCSF: SLC12A6
Guide to Pharmacology: SLC12A6 (973)
SLC12 family of cation-coupled chloride transporters (973)

HGNC: HGNC:10914

Genetic variants

See also Ensembl:ENST00000560611