Gene

slc45a2

ID

ZDB-GENE-050208-97

Name

solute carrier family 45 member 2

Symbol

slc45a2 Nomenclature History

Previous Names

oca4
aim1 (1)
alb (1)
albino (1)
B gene
im:7138762

Type

protein_coding_gene

Location

Chr: 21 Mapping Details/Browsers

Description

Predicted to have sucrose:proton symporter activity. Involved in melanocyte differentiation and response to light stimulus. Predicted to localize to membrane. Used to study cataract. Human ortholog(s) of this gene implicated in oculocutaneous albinism type IV. Is expressed in several structures, including melanoblast; optic vesicle; pigment cell; presumptive retinal pigmented epithelium; and retina. Orthologous to human SLC45A2 (solute carrier family 45 member 2).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

8 figures from 4 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:7138762 (8 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 33 figures from 16 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With slc45a2 Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
oculocutaneous albinism type IV	Alliance	Albinism, oculocutaneous, type IV	606574
		[Skin/hair/eye pigmentation 5, black/nonblack hair]	227240
		[Skin/hair/eye pigmentation 5, dark/fair skin]	227240
		[Skin/hair/eye pigmentation 5, dark/light eyes]	227240

Associated With slc45a2 Via Experimental Models

Human Disease	Fish	Conditions	Citations
cataract	slc45a2^b4/b4	standard conditions	Takamiya et al., 2016

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Homologous_superfamily	IPR036259	MFS transporter superfamily

Domain Details Per Protein

Protein	Length	MFS transporter superfamily
UniProtKB:A8WG95 InterPro	554

Transcripts

Genome Browsers

Type	Name	Annotation Method	Has Havana Data	Length (nt)	Analysis
mRNA	slc45a2-201 (1) Ensembl	Ensembl		1,745 nt	Select Tool

Interactions and Pathways

No data available

Antibodies

No data available

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations