SLC45A2

Chr 5p13.2

solute carrier family 45 member 2

Aliases:: AIM-1, OCA4
MANE:: ENST00000296589.9

OMIM: 606202 ↗NCBI: 51151 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

SLC45A2 · Q9UMX9

v62025-08-01

Predicted Aligned Error matrix for SLC45A2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

77.8/ 100

Confident

530 residues

Confidence breakdown

Very high(≥ 90)35%
Confident(70–90)41%
Low(50–70)8%
Very low(< 50)16%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Albinism or congenital nystagmus
BIALLELIC, autosomal or pseudoautosomal
Infantile nystagmus
BIALLELIC, autosomal or pseudoautosomal
Inherited bleeding disorders
BIALLELIC, autosomal or pseudoautosomal
Ocular and oculo-cutaneous albinism
BIALLELIC, autosomal or pseudoautosomal
Pigmentary skin disorders
BIALLELIC, autosomal or pseudoautosomal
Bleeding and platelet disorders
BIALLELIC, autosomal or pseudoautosomal
Glaucoma (developmental)
Retinal disorders

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Disease associations (Open Targets)

oculocutaneous albinism type 4
0.85
Abnormality of skin pigmentation
0.70
oculocutaneous albinism
0.65
oculocutaneous albinism type 6
0.59
skin neoplasm
0.55
skin cancer
0.55
hair color
0.54
cutaneous melanoma
0.51
basal cell carcinoma
0.50
skin disorder
0.50

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Membrane-associated transporter protein

Proton-associated glucose and sucrose transporter (By similarity). May be able to transport also fructose (By similarity). Expressed at a late melanosome maturation stage where functions as proton/glucose exporter which increase lumenal pH by decreasing glycolysis (PubMed:32966160, PubMed:35469906). Regulates melanogenesis by maintaining melanosome neutralization that is initially initiated by transient OCA2 and required for a proper function of the tyrosinase TYR (PubMed:32966160, PubMed:35469906)

Curated MONDO disease pages that list SLC45A2 among their top associated genes.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with SLC45A2