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Gene

slc12a2

ID
ZDB-GENE-040625-53
Name
solute carrier family 12 member 2
Symbol
slc12a2 Nomenclature History
Previous Names
  • lte (1)
  • slc12a4
  • little ears (1)
  • zfnkcc1 (1)
  • zgc:85961
  • zmp:0000000537 (1)
Type
protein_coding_gene
Location
Chr: 10 Mapping Details/Browsers
Description
Enables cation:chloride symporter activity and identical protein binding activity. Acts upstream of or within inner ear morphogenesis and swim bladder inflation. Located in basolateral plasma membrane. Is expressed in several structures, including mesoderm; nervous system; notochord; otic vesicle; and pharyngeal arch. Human ortholog(s) of this gene implicated in autosomal dominant nonsyndromic deafness 78. Orthologous to human SLC12A2 (solute carrier family 12 member 2).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
12 figures from 5 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
13 figures from 4 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With slc12a2 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
autosomal dominant nonsyndromic deafness 78 Alliance Deafness, autosomal dominant 78 619081
Delpire-McNeill syndrome 619083
Kilquist syndrome 619080
Associated With slc12a2 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 IPR013612 Amino acid permease, N-terminal
Domain IPR018491 SLC12A transporter, C-terminal
Family IPR002443 Solute carrier family 12 member 1/2
Family IPR002444 Solute carrier family 12 member 2
Family IPR004842 SLC12A transporter family
Domain Details Per Protein
Protein Length Amino acid permease, N-terminal Amino acid permease/ SLC12A domain SLC12A transporter, C-terminal SLC12A transporter family Solute carrier family 12 member 1/2 Solute carrier family 12 member 2
UniProtKB:E7FG36 271
UniProtKB:A0A0G2KTI4 1136
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