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Gene

MITF

melanocyte inducing transcription factor

Summary

Cytogenetic location
3p13
Coordinates
Chromosome 3: 69,739,464–69,968,332 (GRCh38)
Exons
10 exons across 228.9 kb
Protein
526 amino acids
Inheritance
Autosomal dominant
Also known as
MI, bHLHe32
Previous symbols
WS2A, WS2
MANE Select transcript
ENST00000352241.9NM_001354604.2
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Melanoma

    • Susceptibility to familial cutaneous melanomaAutosomal dominant

      Inherited melanoma susceptibility caused by variants in genes such as CDKN2A, CDK4, MITF and POT1.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Regular full skin examinations, sun protection and, for CDKN2A carriers, consideration of pancreatic surveillance.

  • Waardenburg Syndrome

    • A group of conditions (types 1 to 4) causing hearing loss and pigment changes of the hair, skin and eyes, caused by genes such as PAX3, MITF, SOX10, EDNRB and EDN3.

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

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How MITF is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 3, with a bracket where MITF sits. MITF and 2 genes near it on chromosome 3, from 69,353,898 to 70,353,897.Chromosome 33p13p26.3p26.2p26.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13.11q13.12q13.13q13.2q13.31q13.32q13.33q21.1q21.2q21.3q22.1q22.2q22.3q23q24q25.1q25.2q25.31q25.32q25.33q26.1q26.2q26.31q26.32q26.33q27.1q27.2q27.3q28q2969.4 Mb69.6 Mb69.8 Mb70 Mb70.2 MbFRMD4B: 69,168,782–69,542,583, reverse strandFRMD4BMITF: 69,739,464–69,968,332, forward strandMITFMDFIC2: 70,194,479–70,312,638, reverse strandMDFIC2Diagram of MITF: 10 exons on the forward strand of chromosome 3Exon 3: 8 known disease-causing sitesExon 4: 6 known disease-causing sitesExon 5: 7 known disease-causing sitesExon 6: 10 known disease-causing sitesExon 7: 13 known disease-causing sitesExon 8: 12 known disease-causing sitesExon 9: 13 known disease-causing sitesExon 10: 14 known disease-causing sitesExon 1: 69,739,464–69,739,701, 238 basesExon 2: 69,879,134–69,879,383, 250 basesExon 3: 69,937,822–69,938,049, 228 basesExon 4: 69,939,098–69,939,181, 84 basesExon 5: 69,941,236–69,941,331, 96 basesExon 6: 69,949,051–69,949,168, 118 basesExon 7: 69,951,812–69,951,886, 75 basesExon 8: 69,956,455–69,956,530, 76 basesExon 9: 69,959,273–69,959,420, 148 basesExon 10: 69,964,847–69,968,332, 3,486 bases12468105′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 4.8 kb of the gene's 228.9 kb; 1,581 of those bases code for the protein.

How a genome test reads MITF

101

positions in MITF 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 228.9 kb of MITF, introns included, not only the 4.8 kb of exons.

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 2026-10-16: 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 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). MITF gene: melanocyte inducing transcription factor. Retrieved 16 October 2026, from https://dantelabs.com/genes/mitf

Vancouver

Dante Labs. MITF gene: melanocyte inducing transcription factor [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/mitf

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