Gene

mitfa

ID
ZDB-GENE-990910-11
Name
melanocyte inducing transcription factor a
Symbol
mitfa Nomenclature History
Previous Names
  • Mitf2 (1)
  • Mitf-related gene
  • nac
  • nacre
  • z3A.1 (1)
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. Is expressed in several structures, including immature eye; iridoblast; melanoblast; neural crest; and pigment cell. Human ortholog(s) of this gene implicated in Tietz syndrome; Tietze's syndrome; Waardenburg syndrome type 2A; Waardenburg's syndrome; and familial melanoma. Orthologous to human MITF (melanocyte inducing transcription factor).
Genome Resources
Note
None
Expression
All Expression Data
81 figures from 58 publications
Cross-Species Comparison
High Throughput Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
31 figures from 24 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With mitfa Human Ortholog
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
Waardenburg syndrome/ocular albinism, digenic 103470
{Melanoma, cutaneous malignant, susceptibility to, 8} 614456
Associated With mitfa Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR011598 Myc-type, basic helix-loop-helix (bHLH) domain
Domain IPR021802 MiT/TFE transcription factors, C-terminal
Domain IPR031867 MiT/TFE transcription factors, N-terminal
Family IPR030532 Microphthalmia-associated transcription factor
Homologous_superfamily IPR036638 Helix-loop-helix DNA-binding domain superfamily
Domain Details Per Protein
Protein Length Helix-loop-helix DNA-binding domain superfamily Microphthalmia-associated transcription factor MiT/TFE transcription factors, C-terminal MiT/TFE transcription factors, N-terminal Myc-type, basic helix-loop-helix (bHLH) domain
UniProtKB:F1QMU5 24
UniProtKB:Q9PWC2 412
UniProtKB:E9QC93 349
UniProtKB:Q6P0E9 349
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations