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ZIRC
ZFIN ID: ZDB-GENE-121109-2
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Gene Name: aristaless related homeobox b
Gene Symbol: arxb    Nomenclature History

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Gene Type: protein_coding_gene
Location: Unmapped
Description: Predicted to have sequence-specific DNA binding activity. Predicted to be involved in multicellular organism development and regulation of transcription, DNA-templated. Predicted to localize to the nucleus. Human ortholog(s) of this gene implicated in Partington syndrome; early infantile epileptic encephalopathy 1; lissencephaly; non-syndromic X-linked intellectual disability; and syndromic X-linked intellectual disability Hedera type. Orthologous to human ARX (aristaless related homeobox).
Genome Resources: Alliance (1),  Ensembl(GRCz11):ENSDARG00000101523 (1)
GENE EXPRESSION No data available
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa38150 Point Mutation Unknown Unknown ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
    • PHENOTYPE No data available
    DISEASE ASSOCIATED WITH arxb HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    early infantile epileptic encephalopathy 1 Alliance Epileptic encephalopathy, early infantile, 1 308350
    lissencephaly Alliance Hydranencephaly with abnormal genitalia 300215
    Lissencephaly, X-linked 2 300215
    Partington syndrome Alliance Partington syndrome 309510
    Mental retardation, X-linked 29 and others 300419
    Proud syndrome 300004
    DISEASE ASSOCIATED WITH arxb VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process multicellular organism development (more)
    Cellular Component nucleus (more)
    Molecular Function DNA binding (more)
    GO Terms (all 7)
    PROTEIN FAMILIES, DOMAINS AND SITES
  • InterPro:IPR001356 (1)
  • InterPro:IPR003654 (1)
  • InterPro:IPR009057 (1)
  • InterPro:IPR017970 (1)
  • PROSITE:PS00027 (1)
  • PROSITE:PS50071 (1)
  • PROSITE:PS50803 (1)
  • Pfam:PF00046 (1)
  • Pfam:PF03826 (1)
    • TRANSCRIPTS No data available
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM arxb No data available
    MARKER RELATIONSHIPS No data available
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA GenBank:EB982078 (1) 610 bp
    Select Tool
    Polypeptide UniProtKB:A0A0G2KXF6 (1)
    Select Tool
    ORTHOLOGY for arxb ( Unmapped )
    CITATIONS (12)