solute carrier family 12 member 1

Summary
Gene Symbol
  • SLC12A1
Organism
Homo sapiens (human)
NCBI Gene
6557
PubChem
6557
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Bartter syndrome
  • Cell membrane
  • Chloride
  • Disease variant
  • Glycoprotein
  • Neurodegeneration
  • Phosphoprotein
  • Potassium transport
  • Proteomics identification
  • Reference proteome
  • Sodium transport
  • Symport
  • Transmembrane helix
Proteins
Displaying all 3 entries
UniProt Protein Name
Q13621
  • Bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2
  • Kidney-specific Na-K-Cl symporter
Q8IUN5
B4DPF4
Gene Ontology (GO)
Displaying entries 11 - 12 of 12 in total
GO Term Evidence Code PMID
chloride transmembrane transport
potassium ion import across plasma membrane
GO Hierarchy
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
solute carrier family 12 member
Functional Category
  • E: Amino acid transport and metabolism
  • K: Transcription
  • M: Cell wall/membrane/envelope biogenesis
  • T: Signal transduction mechanisms
Disease
Disease Ontology
Displaying all 2 entries
DO ID Disease Name Source
DOID:0110142 Bartter disease type 1
DOID:445 Bartter disease

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 4, 2025