ZFIN ID: ZDB-GENE-990910-11
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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: 71 figures from 49 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 26) 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: 24 figures from 18 publications
    Observed in: caudal fin melanocyte, caudal fin ventral region, caudal fin, developmental pigmentation (all 21) expand
    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
    skin melanoma {Melanoma, cutaneous malignant, susceptibility to, 8} 614456
    Tietz syndrome Tietz albinism-deafness syndrome 103500
    Waardenburg syndrome type 2A Waardenburg syndrome, type 2A 193510
    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 11)
    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
    Select Tool
    mitfa-002 (1) 1794
    Select Tool
    mitfa-003 (1) 636
    Select Tool
    GENE PRODUCT DESCRIPTION
    INTERACTIONS AND PATHWAYS
    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 35) 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
    Select Tool
    Genomic GenBank:BX927362 (1) 131893bp
    Select Tool
    Polypeptide UniProtKB:Q9PWC2 (1) 412aa
    Select Tool
    Sequence Clusters UniGene:81296 (1)
    Sequence Information (all 22)
    OTHER mitfa GENE PAGES
  • Gene:30080 (1)
  • VEGA:OTTDARG00000019915 (1)
  • Ensembl(GRCz10):ENSDARG00000003732 (1)
    • ORTHOLOGY for mitfa (Chr: 6)
    CITATIONS (437)