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

Predicted to have sodium:potassium:chloride symporter activity. Involved in inner ear morphogenesis and swim bladder inflation. Localizes to basolateral plasma membrane. Is expressed in several structures, including mesoderm; nervous system; notochord; otic vesicle; and pharyngeal arch. 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

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

IMAGE:7152613 (19 images)

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