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    Gjd2 gap junction protein, delta 2 [ Mus musculus (house mouse) ]

    Gene ID: 14617, updated on 24-Dec-2024

    Summary

    Official Symbol
    Gjd2provided by MGI
    Official Full Name
    gap junction protein, delta 2provided by MGI
    Primary source
    MGI:MGI:1334209
    See related
    Ensembl:ENSMUSG00000068615 AllianceGenome:MGI:1334209
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Cxns; Gja9; cx36; connexin36
    Summary
    Predicted to enable gap junction channel activity. Acts upstream of or within chemical synaptic transmission; neuronal action potential; and visual perception. Predicted to be located in gap junction. Predicted to be part of connexin complex. Is expressed in extraembryonic component; eye; future brain; and nervous system. Orthologous to human GJD2 (gap junction protein delta 2). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in CNS E18 (RPKM 8.1), whole brain E14.5 (RPKM 6.7) and 6 other tissues See more
    Orthologs
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    Genomic context

    See Gjd2 in Genome Data Viewer
    Location:
    2 E4; 2 57.54 cM
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 2 NC_000068.8 (113840086..113844555, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 2 NC_000068.7 (114009601..114014378, complement)

    Chromosome 2 - NC_000068.8Genomic Context describing neighboring genes Neighboring gene predicted gene, 21596 Neighboring gene predicted gene, 39909 Neighboring gene gap junction protein, delta 2 opposite strand Neighboring gene actin, alpha, cardiac muscle 1 Neighboring gene actin, alpha, cardiac muscle 1 divergent transcript Neighboring gene predicted gene, 46757

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (7)  1 citation

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables gap junction channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    involved_in cell-cell signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    acts_upstream_of_or_within cell-cell signaling IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within chemical synaptic transmission IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within neuronal action potential IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    acts_upstream_of_or_within visual perception IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    part_of connexin complex IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of connexin complex IEA
    Inferred from Electronic Annotation
    more info
     
    located_in gap junction ISO
    Inferred from Sequence Orthology
    more info
     
    located_in synapse IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    gap junction delta-2 protein
    Names
    connexin s
    connexin-36
    gap junction alpha-9 protein
    gap junction membrane channel protein alpha 9
    gap junction protein, alpha 9

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001418348.1NP_001405277.1  gap junction delta-2 protein

      Status: VALIDATED

      Source sequence(s)
      AC133157
      UniProtKB/Swiss-Prot
      O54851, Q6PDP3, Q9JII0
      UniProtKB/TrEMBL
      A0A654ICC6
    2. NM_001418349.1NP_001405278.1  gap junction delta-2 protein

      Status: VALIDATED

      Source sequence(s)
      AC133157
      UniProtKB/Swiss-Prot
      O54851, Q6PDP3, Q9JII0
      UniProtKB/TrEMBL
      A0A654ICC6
    3. NM_010290.3NP_034420.2  gap junction delta-2 protein

      See identical proteins and their annotated locations for NP_034420.2

      Status: VALIDATED

      Source sequence(s)
      AC133157
      Consensus CDS
      CCDS16563.1
      UniProtKB/Swiss-Prot
      O54851, Q6PDP3, Q9JII0
      UniProtKB/TrEMBL
      A0A654ICC6
      Related
      ENSMUSP00000087742.5, ENSMUST00000090275.5
      Conserved Domains (1) summary
      pfam00029
      Location:3277
      Connexin

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000068.8 Reference GRCm39 C57BL/6J

      Range
      113840086..113844555 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)