Gene

slc24a4a

ID

ZDB-GENE-050417-291

Name

solute carrier family 24 member 4a

Symbol

slc24a4a Nomenclature History

Previous Names

zgc:112072

Type

protein_coding_gene

Location

Chr: 17 Mapping Details/Browsers

Description

Predicted to have calcium channel activity and calcium, potassium:sodium antiporter activity. Predicted to be involved in calcium ion transmembrane transport and cellular calcium ion homeostasis. Predicted to localize to integral component of plasma membrane. Human ortholog(s) of this gene implicated in amelogenesis imperfecta hypomaturation type 2A5. Is expressed in brain; neural crest; and retina. Orthologous to human SLC24A4 (solute carrier family 24 member 4).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

8 figures from 2 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

MGC:112072 (11 images)

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 slc24a4a Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
amelogenesis imperfecta hypomaturation type 2A5	Alliance	Amelogenesis imperfecta, type IIA5	615887
		[Skin/hair/eye pigmentation 6, blond/brown hair]	210750
		[Skin/hair/eye pigmentation 6, blue/green eyes]	210750

Associated With slc24a4a Via Experimental Models

No data available

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Domain	IPR004837	Sodium/calcium exchanger membrane region
Family	IPR004481	Sodium/potassium/calcium exchanger
Homologous_superfamily	IPR044880	NCX, central ion-binding domain superfamily