Gene

slc12a1

ID
ZDB-GENE-080130-3
Name
solute carrier family 12 member 1
Symbol
slc12a1 Nomenclature History
Previous Names
  • nkcc2 (1)
  • si:ch73-34a12.1
Type
protein_coding_gene
Location
Chr: 18 Mapping Details/Browsers
Description
Predicted to have sodium:potassium:chloride symporter activity. Predicted to be involved in cell volume homeostasis; inorganic ion homeostasis; and inorganic ion transmembrane transport. Localizes to apical plasma membrane. Is expressed in eye and renal system. Human ortholog(s) of this gene implicated in Bartter disease and Bartter disease type 1. Orthologous to human SLC12A1 (solute carrier family 12 member 1).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
50 figures from 22 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With slc12a1 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Bartter disease type 1 Alliance Bartter syndrome, type 1 601678
Associated With slc12a1 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR004841 Amino acid permease/ SLC12A domain
Domain IPR018491 SLC12A transporter, C-terminal
Family IPR002443 Solute carrier family 12 member 1/2
Family IPR004842 SLC12A transporter family
Domain Details Per Protein
Protein Length Amino acid permease/ SLC12A domain SLC12A transporter, C-terminal SLC12A transporter family Solute carrier family 12 member 1/2
UniProtKB:A0A0R4IYN4 681
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-slc12a monoclonal IgG1 Mouse
  • IHC
Developmental Studies Hybridoma Bank
4
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations