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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
Enables DNA-binding transcription factor activity, RNA polymerase II-specific. Acts upstream of or within melanocyte differentiation and transcription, DNA-templated. Predicted to be located in nucleoplasm. Predicted to be active in nucleus. Is expressed in optic cup; optic vesicle; and sensory system. 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
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
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 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
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:A0A2R8Q839 428
UniProtKB:Q90XP4 427
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