AtlasGene
OCA2
OCA2 melanosomal transmembrane protein
- HGNC 8101↗(opens in a new tab)
- Ensembl gene ENSG00000104044↗(opens in a new tab)
- NCBI Gene 4948↗(opens in a new tab)
Summary
- Cytogenetic location
- 15q12-q13.1
- Coordinates
- Chromosome 15: 27,754,875–28,099,315 (GRCh38)
- Exons
- 24 exons across 344.4 kb
- Protein
- 838 amino acids
- Also known as
- BEY, BEY1, BEY2, EYCL, SLC13B1
- Previous symbols
- D15S12, P, EYCL3, EYCL2
- MANE Select transcript
- ENST00000354638.8NM_000275.3
- Locus type
- Protein-coding
- Very high
- Confident
- Low
- Very low
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Oculocutaneous Albinism
- Autosomal recessive
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
How OCA2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 3.1 kb of the gene's 344.4 kb; 2,517 of those bases code for the protein.
Sequencing OCA2
2Low
How hard OCA2 is to sequence with short reads, out of 100Each bar is the share of OCA2's exon bases in that kind of difficult region. The score weighs them by how much each costs a short-read call: 0 when no base is in any, 100 when every base is in all of them.
- MappabilityStretches where 100 or 250 bp reads cannot be placed uniquely, so a call there may be missing or wrong. Weight 35%.0%
- HomologySegmental duplications: copies elsewhere in the genome, such as paralogues and pseudogenes, at 90% identity or more. Weight 30%.0%
- RepeatsTandem repeats and runs of one base, which reads slip on and may not span. Weight 15%.0.4%
- GC contentWindows under 25% or over 65% G and C, which library preparation covers thinly. Weight 10%.19%
- Reference coverageGaps in the reference assembly nearby, where there is no sequence for reads to align to. Weight 10%.0%
229
positions in OCA2 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 344.4 kb of OCA2, introns included, not only the 3.1 kb of exons.
Genes linked to the same conditions
- DCTdopachrome tautomeraseShares 1 condition
- LRMDAleucine rich melanocyte differentiation associatedShares 1 condition
- SLC24A5solute carrier family 24 member 5Shares 1 condition
- SLC45A2solute carrier family 45 member 2Shares 1 condition
- TYRtyrosinaseShares 1 condition
- TYRP1tyrosinase related protein 1Shares 1 condition
Traits linked to OCA2
The Human Phenotype Ontology lists these as features of the rare conditions OCA2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- EEG abnormality
- EEG with abnormally slow frequencies
- Epilepsy
- Global developmental delay
- Increased appetite
- Neurodevelopmental delay
- Ventriculomegaly
- Abnormal eating behavior
Show 40 more traits
- Abnormal speech pattern
- Abnormal temper tantrums
- Autism
- Autism spectrum disorder
- Behavioral abnormality
- Binge and purge
- Delayed myelination
- Difficulty sleeping
- Happy demeanor
- Inappropriate laughter
- Intellectual disability, borderline
- Intellectual disability, mild
- Intellectual disability, severe
- IQ between 34 and 49
- More active than typical
- Obsessive-compulsive trait
- Occipital cortical atrophy
- Overactive lower leg reflex
- Parietal cortical atrophy
- Perisylvian polymicrogyria
- Psychosis
- Self-injurious behavior
- Short attention span
- Skin-picking
- Specific learning disability
- Speech articulation difficulties
- Tongue thrusting
- Underdevelopment of part of brain called corpus callosum
- Abnormality of balance
- Abnormality of movement
- Absent speech development
- Ataxia
- Impaired temperature sensation
- Jerking
- Obstructive sleep apnea
- Poor speech
- Recurrent hand flapping
- Shortened sleep phase
- Tremor
- Wide based walk
Abnormality of the integument
- Freckling
- Loss of hair color
- Patchy lightened skin
- White hair
- Absent skin pigmentation
- Basal cell carcinoma
- Cutaneous melanoma
- Squamous cell carcinoma of the skin
Show 4 more traits
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-17: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.17-8666dff2.
Cite this page
Dante Labs. (n.d.). OCA2 gene: OCA2 melanosomal transmembrane protein. Retrieved 17 October 2026, from https://dantelabs.com/genes/oca2
Dante Labs. OCA2 gene: OCA2 melanosomal transmembrane protein [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/oca2
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