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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
OCA2
OCA2 melanosomal transmembrane protein
Chromosome 15 Β· 15q12-q13.1
NCBI Gene: 4948Ensembl: ENSG00000104044.17HGNC: HGNC:8101UniProt: Q04671
132PubMed Papers
21Diseases
0Drugs
316Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
chloride channel activitymelanosome membraneprotein bindinglysosomal membraneoculocutaneous albinism type 2oculocutaneous albinismAbnormality of skin pigmentationskin cancer
✦AI Summary

OCA2 is a melanosomal transmembrane protein essential for melanin biosynthesis and pigmentation. It functions as a chloride channel that generates a melanosome-specific anion current, working in concert with ATP-driven proton pumps to establish and maintain the acidic pH required for optimal tyrosinase activity 1. This pH regulation is critical for melanin synthesis from tyrosine and melanosome maturation 1. OCA2 is a major determinant of eye color variation, particularly brown and blue eye color, and contributes to ethnic skin color determination 2. Loss-of-function mutations in OCA2 cause oculocutaneous albinism type 2 (OCA2), an autosomal recessive disorder characterized by generalized hypopigmentation of hair, skin, and eyes 2. OCA2 is the second most common form of oculocutaneous albinism after OCA1, accounting for approximately 10-30% of cases depending on population 3. Clinical manifestations include congenital nystagmus, iris hypopigmentation, foveal hypoplasia, reduced visual acuity (20/60 to 20/400), photophobia, and optic nerve misrouting 2. Recently, OCA2 variants have been associated with asthma-plus-eczema co-morbidity, suggesting broader roles in epithelial barrier and immune function 4.

Sources cited
1
OCA2/p protein regulates melanosomal pH through chloride transport in coordination with ATP-driven proton pumps, essential for tyrosinase activity
PMID: 11310796
2
OCA2 mutations cause oculocutaneous albinism type 2 with hypopigmentation and ocular symptoms including nystagmus, reduced visual acuity, and photophobia
PMID: 17980020
3
OCA2 causes the second most common form of oculocutaneous albinism (16/114 cases) in Chinese population
PMID: 31077556
4
OCA2 variants associated with asthma-plus-eczema co-morbidity, linking gene to skin and lung diseases with epithelial barrier implications
PMID: 34155719
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
oculocutaneous albinism type 2Open Targets
0.86Strong
oculocutaneous albinismOpen Targets
0.75Strong
Abnormality of skin pigmentationOpen Targets
0.72Strong
skin cancerOpen Targets
0.61Moderate
skin neoplasmOpen Targets
0.59Moderate
cutaneous melanomaOpen Targets
0.58Moderate
hair colorOpen Targets
0.55Moderate
basal cell carcinomaOpen Targets
0.54Moderate
cataractOpen Targets
0.54Moderate
melanomaOpen Targets
0.54Moderate
genetic disorderOpen Targets
0.53Moderate
skin diseaseOpen Targets
0.52Moderate
actinic keratosisOpen Targets
0.52Moderate
squamous cell carcinomaOpen Targets
0.52Moderate
refractive errorOpen Targets
0.51Moderate
benign neoplasm of eyeOpen Targets
0.51Moderate
skin sensitivity to sunOpen Targets
0.50Moderate
seborrheic keratosisOpen Targets
0.50Moderate
non-melanoma skin carcinomaOpen Targets
0.48Moderate
amblyopiaOpen Targets
0.48Moderate
Albinism, oculocutaneous, 2UniProt
Pathogenic Variants316
NM_000275.3(OCA2):c.1080C>T (p.Ser360=)Pathogenic
not provided|Tyrosinase-positive oculocutaneous albinism|Oculocutaneous albinism|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES;Tyrosinase-positive oculocutaneous albinism|Albinism or congenital nystagmus
β˜…β˜…β˜†β˜†2026β†’ Residue 360
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)Pathogenic
Tyrosinase-positive oculocutaneous albinism|not provided|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES;Tyrosinase-positive oculocutaneous albinism|Inborn genetic diseases|See cases|OCA2-related disorder|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES|Albinism or congenital nystagmus
β˜…β˜…β˜†β˜†2026β†’ Residue 443
NM_000275.3(OCA2):c.1503+5G>APathogenic
Tyrosinase-positive oculocutaneous albinism|not provided|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES;Tyrosinase-positive oculocutaneous albinism|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES|OCA2-related disorder
β˜…β˜…β˜†β˜†2026
NM_000275.3(OCA2):c.1349C>T (p.Thr450Met)Pathogenic
not provided|Tyrosinase-positive oculocutaneous albinism|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES|Tyrosinase-positive oculocutaneous albinism;SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES|OCA2-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 450
NM_000275.3(OCA2):c.2201T>G (p.Leu734Arg)Pathogenic
Tyrosinase-positive oculocutaneous albinism|not provided|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES;Tyrosinase-positive oculocutaneous albinism
β˜…β˜…β˜†β˜†2026β†’ Residue 734
NM_000275.3(OCA2):c.1182+1G>APathogenic
Tyrosinase-positive oculocutaneous albinism|not provided|OCA2-related disorder|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES|Tyrosinase-positive oculocutaneous albinism;SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
β˜…β˜…β˜†β˜†2026
NM_000275.3(OCA2):c.1465A>G (p.Asn489Asp)Pathogenic
Tyrosinase-positive oculocutaneous albinism|not provided|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES;Tyrosinase-positive oculocutaneous albinism|OCA2-related disorder|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES|Oculocutaneous albinism
β˜…β˜…β˜†β˜†2026β†’ Residue 489
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del)Pathogenic
not provided|Tyrosinase-positive oculocutaneous albinism|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES;Tyrosinase-positive oculocutaneous albinism|OCA2-related disorder|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES|Inborn genetic diseases
β˜…β˜…β˜†β˜†2026β†’ Residue 207
NM_000275.3(OCA2):c.131del (p.Gly44fs)Pathogenic
Inborn genetic diseases|not provided|Tyrosinase-positive oculocutaneous albinism|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES|Tyrosinase-positive oculocutaneous albinism;SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
β˜…β˜…β˜†β˜†2026β†’ Residue 44
NM_000275.3(OCA2):c.157del (p.Arg53fs)Pathogenic
not provided|Tyrosinase-positive oculocutaneous albinism|Tyrosinase-positive oculocutaneous albinism;SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES|OCA2-related disorder
β˜…β˜…β˜†β˜†2026β†’ Residue 53
NM_000275.3(OCA2):c.2323G>C (p.Gly775Arg)Pathogenic
not provided|Inborn genetic diseases|Oculocutaneous albinism
β˜…β˜…β˜†β˜†2026β†’ Residue 775
NM_000275.3(OCA2):c.1580T>G (p.Leu527Arg)Pathogenic
not provided|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES|Tyrosinase-positive oculocutaneous albinism|Tyrosinase-positive oculocutaneous albinism;SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
β˜…β˜…β˜†β˜†2026β†’ Residue 527
NM_000275.3(OCA2):c.1001C>T (p.Ala334Val)Pathogenic
Tyrosinase-positive oculocutaneous albinism|not provided|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES;Tyrosinase-positive oculocutaneous albinism
β˜…β˜…β˜†β˜†2026β†’ Residue 334
NM_000275.3(OCA2):c.808-3C>GPathogenic
Tyrosinase-positive oculocutaneous albinism|OCA2-related disorder|not provided|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
β˜…β˜…β˜†β˜†2026
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu)Pathogenic
Tyrosinase-positive oculocutaneous albinism|not provided|Tyrosinase-positive oculocutaneous albinism;SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES|Nonsyndromic Oculocutaneous Albinism|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES|Oculocutaneous albinism
β˜…β˜…β˜†β˜†2026β†’ Residue 743
NM_000275.3(OCA2):c.2378G>A (p.Cys793Tyr)Pathogenic
not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 793
NM_000275.3(OCA2):c.631C>G (p.Pro211Ala)Pathogenic
not provided|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
β˜…β˜…β˜†β˜†2026β†’ Residue 211
NM_000275.3(OCA2):c.583A>G (p.Ser195Gly)Pathogenic
Tyrosinase-positive oculocutaneous albinism|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 195
NM_000275.3(OCA2):c.2216T>C (p.Ile739Thr)Likely pathogenic
Oculocutaneous albinism|not provided|Tyrosinase-positive oculocutaneous albinism;SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES|OCA2-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 739
NM_000275.3(OCA2):c.2177_2181del (p.Val726fs)Pathogenic
not provided|Tyrosinase-positive oculocutaneous albinism|OCA2-related disorder|SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
β˜…β˜…β˜†β˜†2025β†’ Residue 726
View on ClinVar β†—
Related Genes
MYBPHProtein interaction100%ASIPProtein interaction99%MC1RProtein interaction99%GPR143Protein interaction99%TYRProtein interaction99%SLC24A5Protein interaction91%
Tissue Expression6 tissues
Brain
100%
Lung
69%
Ovary
62%
Heart
25%
Liver
18%
Bone Marrow
7%
Gene Interaction Network
Click a node to explore
OCA2MYBPHASIPMC1RGPR143TYRSLC24A5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q04671
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.87LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.70 [0.57–0.87]
RankingsWhere OCA2 stands among ~20K protein-coding genes
  • #3,535of 20,598
    Most Researched132 Β· top quartile
  • #191of 5,498
    Most Pathogenic Variants316 Β· top 5%
  • #7,651of 17,882
    Most Constrained (LOEUF)0.87
Genes detectedOCA2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Oculocutaneous albinism.
PMID: 17980020
Orphanet J Rare Dis Β· 2007
1.00
2
Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non-syndromic oculocutaneous albinism facilitates genetic diagnosis.
PMID: 31077556
Pigment Cell Melanoma Res Β· 2019
0.90
3
A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism.
PMID: 19865097
J Invest Dermatol Β· 2010
0.80
4
Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.
PMID: 28266639
Sci Rep Β· 2017
0.70
5
DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.
PMID: 23504663
Hum Mutat Β· 2013
0.60