ZFIN ID: ZDB-GENE-991105-4
Gene Name: connexin 43
Gene Symbol: cx43    Nomenclature History

{{control.fieldName}} Edit

ID: {{control.nomenID}}
{{control.fieldName}}:
Reason:
Comments:

Attributions

{{pub.zdbID}}
Previous Names: cx43a1 (1), etID309742.9 (1), gja1 (1), shf, short fin, sof (1), stopsel (1), stp, zfCx43.3 (1)

Add new Alias

Alias
Attribution

Attributions for Alias: {{control.newAlias}}

{{pub.zdbID}}

Delete Alias:

(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 20 Mapping Details/Browsers
Description: Exhibits gap junction hemi-channel activity and voltage-gated channel activity. Involved in several processes, including Kupffer's vesicle development; embryonic organ development; and fin regeneration. Localizes to the gap junction and plasma membrane. Human ortholog(s) of this gene implicated in congenital heart disease (multiple); erythrokeratodermia variabilis (multiple); oculodentodigital dysplasia; palmoplantar keratoderma and congenital alopecia 1; and palmoplantar keratosis. Is expressed in several structures, including cardiovascular system; digestive system; fin; immature eye; and nervous system. Orthologous to human GJA1 (gap junction protein alpha 1).
Genome Resources: Alliance (1),  Gene:30236 (1),  Ensembl(GRCz11):ENSDARG00000041799 (2)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
b123 Unknown Unknown Unknown SPONTANEOUS
cx43_unrecovered Point Mutation Unknown Unknown ENU
dmh35 Point Mutation Unknown Nonsynonymous ENU
fh300 Point Mutation Unknown Unknown ENU
  • Zebrafish International Resource Center (ZIRC) (order this)
  • j7e1 Point Mutation Unknown Missense ENU
    j7e2 Point Mutation Unknown Missense ENU
    j7e3 Point Mutation Unknown Missense ENU
    ou2028 Indel Unknown Unknown TALEN
    sa29432 Point Mutation Unknown Premature Stop ENU
    sa32313 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa37126 Point Mutation Unknown Premature Stop ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • tl28d Point Mutation Unknown Missense ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    MO1-cx43 N/A 4
    MO2-cx43 N/A 5
    MO3-cx43 N/A 1
    MO4-cx43 N/A 1
    MO5-cx43 N/A 1
    TALEN1-cx43 1
    DISEASE ASSOCIATED WITH cx43 HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    atrioventricular septal defect Alliance Atrioventricular septal defect 3 600309
    craniometaphyseal dysplasia Alliance Craniometaphyseal dysplasia, autosomal recessive 218400
    erythrokeratodermia variabilis et progressiva 3 Alliance Erythrokeratodermia variabilis et progressiva 3 617525
    hypoplastic left heart syndrome Alliance Hypoplastic left heart syndrome 1 241550
    oculodentodigital dysplasia Alliance Oculodentodigital dysplasia 164200
    Oculodentodigital dysplasia, autosomal recessive 257850
    palmoplantar keratoderma and congenital alopecia 1 Alliance Palmoplantar keratoderma with congenital alopecia 104100
    syndactyly Alliance Syndactyly, type III 186100
    DISEASE ASSOCIATED WITH cx43 VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process cell communication (more)
    Cellular Component gap junction (more)
    Molecular Function gap junction channel activity (more)
    GO Terms (all 32)
    PROTEIN FAMILIES, DOMAINS AND SITES
    Type InterPro ID Name
    Family IPR000500 Connexin
    Family IPR002261 Gap junction alpha-1 protein (Cx43)
    Domain IPR013092 Connexin, N-terminal
    Domain IPR013124 Gap junction alpha-1 protein (Cx43), C-terminal
    Conserved_site IPR017990 Connexin, conserved site
    Domain IPR019570 Gap junction protein, cysteine-rich domain
    Homologous_superfamily IPR034634 Connexin, C-terminal
    Homologous_superfamily IPR035091 Gap junction alpha-1 protein (Cx43), alpha helix domain superfamily
    Homologous_superfamily IPR038359 Connexin, N-terminal domain superfamily
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA cx43-201 (1)    Ensembl 2917
    cx43-202 (1)    Ensembl 2806
    cx43-203 (1)    Ensembl 913
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES
    Name Type Isotype Host Organism Assay Source Publications
    Ab1-cx43 polyclonal Rabbit IHC, WB Quality Controlled Biochemicals
    4
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM cx43
    Construct Regulatory Regions Coding Sequences Species Tg Lines Publications
    Tg(cx43:cx43) cx43 cx43 Danio rerio 1 1
    Tg(cx43:mCherry) cx43 mCherry Danio rerio 1 1
    Tg(mitfa:cx43) mitfa cx43 Danio rerio 1 2
    MARKER RELATIONSHIPS
    cx43 Contained in: [BAC] DKEY-261A18 (1) (order this)
    cx43 Encodes: [cDNA] MGC:55225 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (bp/aa) Analysis
    RNA RefSeq:NM_131038 (1) 2873 bp
    Genomic GenBank:CR352322 (1) 59134 bp
    Select Tool
    Polypeptide UniProtKB:O57474 (1) 381 aa
    Sequence Clusters UniGene:75809 (1)
    Sequence Information (all 18)
    ORTHOLOGY for cx43 ( Chr: 20 )
    CITATIONS (101)