ZFIN ID: ZDB-GENE-990910-11
Gene Name: microphthalmia-associated transcription factor a
Gene Symbol: mitfa
Sequence Ontology ID : SO:0000704

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Previous Names: Mitf2 (1), Mitf-related gene, nac, nacre, z3A.1 (1)

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(Including Attributions)
Location: Chr: 6 Mapping Details/Browsers
GENE EXPRESSION
All Expression Data: 76 figures from 54 publications
Directly Submitted Expression Data: 3 figures (4 images) from Thisse et al., 2004 [MGC:65859]
  7 figures (16 images) from Rauch et al., 2003 [cegs2213]
Wild-type Stages, Structures: Gastrula:Shield (6.0h-8.0h) to Adult (90d-730d, breeding adult)
 
Curated Microarray Expression: GEO (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
b692 Point Mutation Unknown Missense
  • Zebrafish International Resource Center (ZIRC) (order this)
  • b1085 Unknown Unknown Unknown
    la025593Tg Transgenic Insertion Unknown Unknown DNA
  • Zebrafish International Resource Center (ZIRC) (order this)
  • mitfa_unspecified Unspecified Unknown Unknown
    s170 Unknown Unknown Unknown
    s184 Unknown Unknown Unknown
    vc7 Point Mutation Donor Splice Site of Intron 6 Intron Gain of Intron 6
    w2 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • z25 Point Mutation Unknown Unknown ENU
    Targeting reagents:
    PHENOTYPE
    Data: 26 figures from 20 publications
    Observed in:
    DISEASE ASSOCIATED WITH mitfa HUMAN ORTHOLOG
    Disease Ontology Term OMIM Term OMIM Phenotype ID
    ocular albinism with sensorineural deafness Waardenburg syndrome/ocular albinism, digenic 103470
    Tietz syndrome Tietz albinism-deafness syndrome 103500
    Waardenburg syndrome type 2A Waardenburg syndrome, type 2A 193510
    COMMAD syndrome 617306
    COMMAD syndrome 617306
    {Melanoma, cutaneous malignant, susceptibility to, 8} 614456
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process circadian rhythm (more)
    Cellular Component nucleoplasm (more)
    Molecular Function DNA-binding transcription factor activity, RNA polymerase II-specific (more)
    GO Terms (all 11)
    PROTEIN FAMILIES, DOMAINS AND SITES
  • InterPro:IPR011598 (1)
  • InterPro:IPR021802 (1)
  • InterPro:IPR030532 (1)
  • InterPro:IPR031867 (1)
  • InterPro:IPR036638 (1)
  • PROSITE:PS50888 (1)
  • Pfam:PF00010 (1)
  • Pfam:PF11851 (1)
  • Pfam:PF15951 (1)
  • TRANSCRIPTS
    Type Name Length (bp) Analysis
    mRNA mitfa-001 (1) 1652
    mitfa-002 (1) 1794
    mitfa-003 (1) 636
    GENE PRODUCT DESCRIPTION No description available
    INTERACTIONS AND PATHWAYS
    ANTIBODIESNo data available
    PLASMIDS
    Addgene
    CONSTRUCTS WITH SEQUENCES FROM mitfa
    MARKER RELATIONSHIPS
    mitfaContained in: [BAC] CH211-170N20 (1) (order this)
    mitfaEncodes: [EST] cegs2213 (1) (order this)
    [cDNA] MGC:65859 (1) (order this), MGC:77339 (1) (order this)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_130923 (1) 1595bp
    Genomic GenBank:BX927362 (1) 131893bp
    Select Tool
    Polypeptide UniProtKB:Q9PWC2 (1) 412aa
    Sequence Clusters UniGene:81296 (1)
    Sequence Information (all 25)
    OTHER mitfa GENE PAGES
  • Alliance (1)
  • Gene:30080 (1)
  • VEGA:OTTDARG00000019915 (1)
  • Ensembl(GRCz11):ENSDARG00000003732 (1)
  • ORTHOLOGY for mitfa (Chr: 6)
    CITATIONS (569)