Gene

slc12a3

ID

ZDB-GENE-030131-9505

Name

solute carrier family 12 member 3

Symbol

slc12a3 Nomenclature History

Previous Names

NCCT (1)
si:ch211-122c9.4
wu:fj83c03 (1)

Type

protein_coding_gene

Location

Chr: 18 Mapping Details/Browsers

Description

Predicted to enable sodium:potassium:chloride symporter activity. Acts upstream of or within cloaca development and pronephric duct morphogenesis. Predicted to be located in membrane. Is expressed in several structures, including blood; intermediate mesoderm; opercular flap; pleuroperitoneal region; and scale. Human ortholog(s) of this gene implicated in Gitelman syndrome and essential hypertension. Orthologous to human SLC12A3 (solute carrier family 12 member 3).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

89 figures from 41 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

IMAGE:7153737 (11 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 1 Figure from Abu Seman et al., 2014
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With slc12a3 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
Gitelman syndrome	Alliance	Gitelman syndrome	263800

Associated With slc12a3 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	IPR002948	Thiazide-sensitive Na-K-Cl co-transporter
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	Thiazide-sensitive Na-K-Cl co-transporter
UniProtKB:Q1LX46 InterPro	1012

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	slc12a3-201 (1) Ensembl	Ensembl	3,792 nt	Select Tool ZFIN BLAST
mRNA	slc12a3-203 (1) Ensembl	Ensembl	4,208 nt	Select Tool ZFIN BLAST
ncRNA	slc12a3-002 (1) Ensembl	Ensembl	560 nt	Select Tool ZFIN BLAST

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Host Organism	Assay	Citations
Ab3-slc12a3	polyclonal	slc12a3	Rabbit	IHC	1
Ab2-slc12a3	polyclonal	slc12a3	Rabbit	IHC	1
Ab1-slc12a3	polyclonal	slc12a3	Rabbit	IHC	1

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations