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. Is expressed in several structures, including melanoblast; optic vesicle; pigment cell; presumptive retinal pigmented epithelium; and retina. Used to study cataract. Human ortholog(s) of this gene implicated in oculocutaneous albinism type IV and pigmentation disease. Orthologous to human SLC45A2 (solute carrier family 45 member 2).
Genome Resources
Note
None
Expression
All Expression Data
8 figures from 4 publications
Cross-Species Comparison
High Throughput Data
No data available
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 slc45a2b4/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:F1QUJ8 554
UniProtKB:A8WG95 554
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations