Protein name: NKCC2 Aliases: N/D Substrates: Na+, K+, Cl- Transport type: N/D Tissue and cellular expression: kidney specific Subcellular expression: N/D Disease: type I Bartter syndrome Locus: 15q21.1 Sequence ID: NP_000329.2, NM_000338.2 NP_001171761.1, NM_001184832.1 Gene ID: 6557 Splice variants: N/D

S12A1_HUMAN (UniProt)

Gene names: SLC12A1, NKCC2
Protein names and data: S12A1_HUMAN, Full=Solute carrier family 12 member 1, Full=Bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2;Full=Kidney-specific Na-K-Cl symporter; Length: 1099 a.a., Mass: 121450 Da,
fasta formatted sequence

Function: Electrically silent transporter system. Mediates sodium and chloride reabsorption. Plays a vital role in the regulation of ionic balance and cell volume
Cellular location: Membrane; Multi-pass membrane protein
Tissue specificity: Kidney specific

Database cross-references

UniProt: Q13621
NextBio: 25515
OMIM: 600839 601678
Ensembl: ENST00000558405
GeneCard: GC15P048191
PharmGenUCSF: SLC12A1
Guide to Pharmacology: SLC12A1 (968)
SLC12 family of cation-coupled chloride transporters (968)

HGNC: HGNC:10910

Genetic variants

See also Ensembl:ENST00000558405