ZFIN ID: ZDB-GENE-040912-134
Gene Name: connexin 47.1
Gene Symbol: cx47.1    Nomenclature History

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Previous Name: zgc:92348 (1)

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 2 Mapping Details/Browsers
Description: Predicted to have gap junction channel activity. Predicted to be involved in cell-cell signaling. Predicted to localize to connexin complex. Human ortholog(s) of this gene implicated in hereditary lymphedema IC; hereditary spastic paraplegia 44; hypomyelinating leukodystrophy 2; and lymphedema. Orthologous to human GJC2 (gap junction protein gamma 2).
Genome Resources: Alliance (1),  Gene:447835 (1),  Ensembl(GRCz11):ENSDARG00000073896 (1)
GENE EXPRESSION No data available
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
sa540 Point Mutation Unknown Premature Stop ENU
sa11554 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa25746 Point Mutation Unknown Premature Stop ENU
    sa32830 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa39750 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 cx47.1 HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    hereditary lymphedema IC Alliance Lymphatic malformation 3 613480
    hereditary spastic paraplegia 44 Alliance Spastic paraplegia 44, autosomal recessive 613206
    hypomyelinating leukodystrophy 2 Alliance Leukodystrophy, hypomyelinating, 2 608804
    DISEASE ASSOCIATED WITH cx47.1 VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process cell communication (more)
    Cellular Component cell junction (more)
    Molecular Function gap junction channel activity (more)
    GO Terms (all 9)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA cx47.1-201 (1)    Ensembl 2074
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM cx47.1 No data available
    MARKER RELATIONSHIPS
    cx47.1 Contained in: [BAC] CH73-198J8 (1)
    cx47.1 Encodes: [cDNA] MGC:92348 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_001004574 (1) 2094 nt
    Genomic GenBank:CU694226 (1) 83690 nt
    Select Tool
    Polypeptide UniProtKB:Q66HV7 (1) 409 aa
    Sequence Information (all 10)
    ORTHOLOGY for cx47.1 ( Chr: 2 )
    CITATIONS (20)