Gene

mitfb

ID
ZDB-GENE-010919-1
Name
melanocyte inducing transcription factor b
Symbol
mitfb Nomenclature History
Previous Names
  • Mitf1 (1)
Type
protein_coding_gene
Location
Chr: 23 Mapping Details/Browsers
Description
Exhibits DNA-binding transcription factor activity, RNA polymerase II-specific. Involved in 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 olfactory bulb; optic cup; optic vesicle; and visual system. Orthologous to human MITF (melanocyte inducing transcription factor).
Genome Resources
Note
Accession AF362683 is chimeric.
Comparative Information
Expression
All Expression Data
6 figures from 5 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With mitfb Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
COMMAD syndrome 617306
Tietz albinism-deafness syndrome 103500
Waardenburg syndrome, type 2A 193510
{Melanoma, cutaneous malignant, susceptibility to, 8} 614456
Associated With mitfb 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
Homologous_superfamily IPR036638 Helix-loop-helix DNA-binding domain superfamily
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:A0A8M9PEV1 346
UniProtKB:F1Q885 500
Transcripts
Genome Browsers
No data available
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations