RBCC Red Blood Cell Collection

S12A6_HUMAN

Source: PM19886704
PM23856902
PM22954596
Marked as 'Integral membrane protein'
Confidence: medium (present in either hRBCD or BSc_CH or PM22954596) Search PubMed for
(RBC AND this entry)
Gene names: SLC12A6 , KCC3
Protein names and data: S12A6_HUMAN , Solute carrier family 12 member 6 , Electroneutral potassium-chloride cotransporter 3; K-Cl cotransporter 3 Lenght: 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.
Disease: ( OMIM: 218000 604878 ) Agenesis of the corpus callosum, with peripheral neuropathy (ACCPN) [MIM:218000]: A disease that is characterized by severe progressive sensorimotor neuropathy, mental retardation, dysmorphic features and complete or partial agenesis of the corpus callosum. Note=The disease is caused by mutations affecting the gene represented in this entry.
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).

Genetic variants

415 - 415 F -> S (in dbSNP:rs2705339). VAR_014960 2705339

Database cross-references

UniProt: Q9UHW9
Ensembl: ENST00000290209
Ensembl: ENST00000354181
Ensembl: ENST00000397702
Ensembl: ENST00000397707
Ensembl: ENST00000458406
Ensembl: ENST00000558589
Ensembl: ENST00000558667
Ensembl: ENST00000560611
MIM: 218000
MIM: 604878
neXtProt: NX_Q9UHW9
Antibodypedia: Q9UHW9 (may not find the protein thus also not any antibody)
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