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 chloride:monoatomic cation 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 and middle cerebral artery infarction. 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

Daniocell

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

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:A0A0G2KTI4 InterPro PDB	1136
UniProtKB:A0A8M9PTH8 InterPro	1134

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	slc12a2-201 (1) Ensembl	Ensembl	1,137 nt	Select Tool ZFIN BLAST
mRNA	slc12a2-202 (1) Ensembl	Ensembl	3,390 nt	Select Tool ZFIN BLAST
mRNA	slc12a2-203 (1) Ensembl	Ensembl	7,453 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab1-slc12a	monoclonal	slc12a1 slc12a2	IgG1	Mouse	IHC	Developmental Studies Hybridoma Bank	5

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations