MITF

melanocyte inducing transcription factor

3 disorders 1 causative 1 untyped 1 no genetic record 3p13 gene with protein product

HGNC:7105 Monarch NCBI Gene 4286 ENSG00000187098 UniProt O75030 OMIM 156845

Previous symbols: WS2A, WS2. Aliases: MI, bHLHe32.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
MITF Waardenburg-Tietz Spectrum	causative germline	mechanism: MITF Loss of Function subtype: COMMAD; Tietz; WS2A scoped to subtype: COMMAD, Tietz, WS2A
Prostate Adenocarcinoma	untyped Gain-of-function E318K mutation
SOX10 Neurocristopathy Spectrum	no genetic record	mechanism: Reduced SOX10-MITF and SOX10-RET regulatory programs

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
Waardenburg syndrome type 2 MONDO:0019517	AD	Definitive 2017-11-21	no dismech entry

Mechanism modules · computed from kb/

neural_crest_melanocyte_deficiency via SOX10 Neurocristopathy Spectrum

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.