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

Gene ID: 14617, updated on 27-Nov-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, Nov 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)

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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
  2. NM_001418349.1NP_001405278.1  gap junction delta-2 protein

    Status: VALIDATED

    Source sequence(s)
    AC133157
    UniProtKB/Swiss-Prot
    O54851, Q6PDP3, Q9JII0
  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)