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 DNA-templated transcription and melanocyte differentiation. 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; Waardenburg syndrome type 2A; 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
{Melanoma, cutaneous malignant, susceptibility to, 8} 614456
1 - 4 of 4
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
1 - 4 of 4
Domain Details Per Protein
Protein Additional Resources 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 InterPro 346
UniProtKB:F1Q885 InterPro 500
UniProtKB:A0AB32TH68 InterPro 484
1 - 3 of 3
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA mitfb-201 (1)
Ensembl
Ensembl 1,595 nt
ZFIN BLAST
mRNA mitfb-202 (1)
Ensembl
Ensembl 1,397 nt
ZFIN BLAST
1 - 2 of 2
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
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