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Gene

TYR

tyrosinase

Summary

Cytogenetic location
11q14.3
Coordinates
Chromosome 11: 89,177,875–89,295,759 (GRCh38)
Exons
5 exons across 117.9 kb
Protein
529 amino acids
Also known as
OCAIA, OCA1A, OCA1
MANE Select transcript
ENST00000263321.6NM_000372.5
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

  • Oculocutaneous Albinism

    • Ocular Albinism

      Albinism mainly affecting the eyes, most often X-linked ocular albinism caused by changes in GPR143, with reduced vision, nystagmus and iris translucency but little effect on skin and hair.

      • 4 GenCC submitters rate it definitive or strong
    • Autosomal recessive
      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong

How TYR is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 11, with a bracket where TYR sits. TYR and 3 genes near it on chromosome 11, from 88,736,817 to 89,736,816.Chromosome 1111q14.3p15.5p15.4p15.3p15.2p15.1p14.3p14.2p14.1p13p12p11.2p11.12p11.11q11q12.1q12.2q12.3q13.1q13.2q13.3q13.4q13.5q14.1q14.2q14.3q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q2588.8 Mb89 Mb89.2 Mb89.4 Mb89.6 MbGRM5: 88,504,576–89,065,990, reverse strandGRM5TYR: 89,177,875–89,295,759, forward strandTYRNOX4: 89,321,829–89,498,187, reverse strandNOX4TRIM77: 89,710,299–89,717,872, forward strandTRIM77Diagram of TYR: 5 exons on the forward strand of chromosome 11Exon 1: 107 known disease-causing sitesExon 2: 27 known disease-causing sitesExon 3: 29 known disease-causing sitesExon 4: 20 known disease-causing sitesExon 5: 14 known disease-causing sitesExon 1: 89,177,875–89,178,772, 898 basesExon 2: 89,191,202–89,191,418, 217 basesExon 3: 89,227,823–89,227,970, 148 basesExon 4: 89,284,773–89,284,954, 182 basesExon 5: 89,295,143–89,295,759, 617 bases123455′3′

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 2.1 kb of the gene's 117.9 kb; 1,590 of those bases code for the protein.

Sequencing TYR

211

positions in TYR where ClinVar classes a change as pathogenic or likely pathogenic

38 of them (18%) fall in regions short reads find hard.

  • Low mappability (20 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
  • Segmental duplications (38 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.

A whole genome covers all 117.9 kb of TYR, introns included, not only the 2.1 kb of exons.

Genes linked to the same conditions

Traits linked to TYR

The Human Phenotype Ontology lists these as features of the rare conditions TYR can cause. Each trait's page lists the other genes linked to it.

External links

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 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

APA

Dante Labs. (n.d.). TYR gene: tyrosinase. Retrieved 17 October 2026, from https://dantelabs.com/genes/tyr

Vancouver

Dante Labs. TYR gene: tyrosinase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tyr

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