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

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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: 70 figures from 48 publications
Directly Submitted Expression Data: 7 figures (16 images) from Rauch et al., 2003 [cegs2213]
  3 figures (4 images) from Thisse et al., 2004 [MGC:65859]
Wild-type Stages, Structures: Gastrula:Bud (10.0h-10.33h) to Adult (90d-730d, breeding adult)
  cranial neural crest, female organism, head, head melanoblast (all 25) expand
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: CRISPR1-mitfa (1), CRISPR2-mitfa (1), CRISPR3-mitfa (2), MO1-mitfa (1), MO2-mitfa (1)
    PHENOTYPE
    Data: 22 figures from 16 publications
    Observed in: caudal fin, developmental pigmentation, iridophore, larval melanophore stripe melanocyte (all 18) expand
    DISEASE ASSOCIATED WITH mitfa HUMAN ORTHOLOG
    Disease Ontology Term OMIM Term OMIM Phenotype ID
    skin melanoma {Melanoma, cutaneous malignant, susceptibility to, 8} 614456
    Waardenburg's syndrome Waardenburg syndrome, type 2A 193510
    Waardenburg syndrome/ocular albinism, digenic 103470
    Tietz albinism-deafness syndrome 103500
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process circadian rhythm (more)
    Cellular Component nucleoplasm (more)
    Molecular Function RNA polymerase II transcription factor activity, sequence-specific DNA binding (more)
    GO Terms (all 14)
    PROTEIN FAMILIES, DOMAINS AND SITES
  • InterPro:IPR011598 (1)
  • InterPro:IPR021802 (1)
  • InterPro:IPR030532 (1)
  • InterPro:IPR031867 (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
    INTERACTIONS AND PATHWAYSNo data available
    ANTIBODIESNo data available
    PLASMIDS
    Addgene
    CONSTRUCTS WITH SEQUENCES FROM mitfa
    Tg(5xUAS:EGFP,mitfa,cryaa:DsRed), Tg(ATTB:mitfa), Tg(cryaa:Venus,mitfa:gnaq_Q209P), Tg(mitfa-Hsa.NRAS_Q61L:cryaa-Venus), Tg(mitfa:cx41.8) (all 34) expand
    SEGMENT (CLONE AND PROBE) 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 20)
    OTHER mitfa GENE PAGES
  • Gene:30080 (1)
  • VEGA:OTTDARG00000019915 (1)
  • Ensembl(GRCz10):ENSDARG00000003732 (1)
  • ORTHOLOGY for mitfa (Chr: 6)
    CITATIONS (408)