Gene
mitfa
- ID
- ZDB-GENE-990910-11
- Name
- melanocyte inducing transcription factor a
- Symbol
- mitfa Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 6 Mapping Details/Browsers
- Description
- Exhibits DNA-binding transcription factor activity, RNA polymerase II-specific. Involved in circadian rhythm; melanocyte differentiation; and transcription, DNA-templated. Predicted to localize to nucleoplasm. Human ortholog(s) of this gene implicated in Tietz syndrome; Tietze's syndrome; Waardenburg syndrome type 2A; Waardenburg's syndrome; and familial melanoma. Is expressed in several structures, including immature eye; iridoblast; melanoblast; neural crest; and pigment cell. Orthologous to human MITF (melanocyte inducing transcription factor).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 96 figures from 69 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:65859 (4 images)
Wild Type Expression Summary
- All Phenotype Data
- 38 figures from 28 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Tietz syndrome | Alliance | Tietz albinism-deafness syndrome | 103500 |
| Waardenburg syndrome type 2A | Alliance | Waardenburg syndrome, type 2A | 193510 |
| COMMAD syndrome | 617306 | ||
| {Melanoma, cutaneous malignant, susceptibility to, 8} | 614456 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Helix-loop-helix DNA-binding domain superfamily | MiT/TFE transcription factors, C-terminal | MiT/TFE transcription factors, N-terminal | Myc-type, basic helix-loop-helix (bHLH) domain |
|---|---|---|---|---|---|
|
UniProtKB:A0A8M9Q5Y7
|
411 | ||||
|
UniProtKB:Q9PWC2
|
412 | ||||
|
UniProtKB:A0A8M9QF67
|
351 |
Interactions and Pathways
No data available
Plasmids