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ZIRC
ZFIN ID: ZDB-GENE-050419-258
Gene Name: immunoglobulin mu DNA binding protein 2
Gene Symbol: ighmbp2    Nomenclature History

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Previous Names: ighmbp2l, si:ch211-238n5.2 (1), zgc:110400

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 18 Mapping Details/Browsers
Description: Predicted to have 5'-3' DNA helicase activity. Predicted to be involved in negative regulation of transcription by RNA polymerase II. Predicted to localize to the cytoplasm and nucleus. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2S and distal spinal muscular atrophy 1. Orthologous to human IGHMBP2 (immunoglobulin mu DNA binding protein 2).
Genome Resources: Alliance (1),  Gene:556484 (1),  Ensembl(GRCz11):ENSDARG00000069274 (1)
GENE EXPRESSION
Directly Submitted Expression Data: 1 figure (1 image) from Thisse et al., 2004 [IMAGE:6902687]
Wild-type Stages, Structures: Zygote:1-cell (0.0h-0.75h) to Hatching:Pec-fin (60.0h-72.0h)
 
Curated Microarray Expression: GEO (1)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa6514 Point Mutation Unknown Premature Stop ENU
sa9011 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa23288 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • PHENOTYPE No data available
    DISEASE ASSOCIATED WITH ighmbp2 HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    Charcot-Marie-Tooth disease axonal type 2S Alliance Charcot-Marie-Tooth disease, axonal, type 2S 616155
    distal spinal muscular atrophy 1 Alliance Neuronopathy, distal hereditary motor, type VI 604320
    DISEASE ASSOCIATED WITH ighmbp2 VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process negative regulation of transcription by RNA polymerase II (more)
    Cellular Component cytoplasm (more)
    Molecular Function ATP binding (more)
    GO Terms (all 8)
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA ighmbp2-201 (1)    Ensembl 3450
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM ighmbp2 No data available
    MARKER RELATIONSHIPS
    ighmbp2 Contained in: [BAC] CH211-238N5 (1) (order this)
    ighmbp2 Encodes: [EST] IMAGE:6902687 (1) (order this)
    [cDNA] MGC:110400 (1) (order this), MGC:198375 (1) (order this)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_001044900 (1) 3450 bp
    Genomic GenBank:BX470166 (1) 117241 bp
    Select Tool
    Polypeptide UniProtKB:A0A2R8QMX1 (1) 997 aa
    Sequence Clusters UniGene:86250 (1)
    Sequence Information (all 19)
    ORTHOLOGY for ighmbp2 ( Chr: 18 )
    CITATIONS (19)