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

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 action potential; chemical synaptic transmission; 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, Apr 2022]
Expression: Biased expression in CNS E18 (RPKM 8.1), whole brain E14.5 (RPKM 6.7) and 6 other tissues See more
Orthologs: human all
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Genomic context

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_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Restoring connexin-36 function in diabetogenic environments precludes mouse and human islet dysfunction.
Title: Restoring connexin-36 function in diabetogenic environments precludes mouse and human islet dysfunction.
Expression of the gap junction protein connexin36 in small intensely fluorescent (SIF) cells in cardiac parasympathetic ganglia of rodents.
Title: Expression of the gap junction protein connexin36 in small intensely fluorescent (SIF) cells in cardiac parasympathetic ganglia of rodents.
Inhibition of Connexin 36 attenuates HMGB1-mediated depressive-like behaviors induced by chronic unpredictable mild stress.
Title: Inhibition of Connexin 36 attenuates HMGB1-mediated depressive-like behaviors induced by chronic unpredictable mild stress.
Growth differentiation factor-15 prevents glucotoxicity and connexin-36 downregulation in pancreatic beta-cells.
Title: Growth differentiation factor-15 prevents glucotoxicity and connexin-36 downregulation in pancreatic beta-cells.
Respiratory disturbances and high risk of sudden death in the neonatal connexin-36 knockout mouse.
Title: Respiratory disturbances and high risk of sudden death in the neonatal connexin-36 knockout mouse.
Convergent NMDA receptor-Pannexin1 signaling pathways regulate the interaction of CaMKII with Connexin-36.
Title: Convergent NMDA receptor-Pannexin1 signaling pathways regulate the interaction of CaMKII with Connexin-36.
Connexin 36 Mediates Orofacial Pain Hypersensitivity Through GluK2 and TRPA1.
Title: Connexin 36 Mediates Orofacial Pain Hypersensitivity Through GluK2 and TRPA1.
Endocytosis of Connexin 36 is Mediated by Interaction with Caveolin-1.
Title: Endocytosis of Connexin 36 is Mediated by Interaction with Caveolin-1.
Electrically coupled inhibitory interneurons constrain long-range connectivity of cortical networks.
Title: Electrically coupled inhibitory interneurons constrain long-range connectivity of cortical networks.
Results indicated an involvement of Cx36 in IL-6-induced maternal fever.
Title: Neonatal Inhibition of Connexin 36 Ameliorates Fetal Brain Injury Induced by Maternal Noninfectious Fever in Mice.

Submit: New GeneRIF Correction See all GeneRIFs (86)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (7) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

BB391717 (e-PCR)
- UniSTS:207377

NoName (e-PCR)
- UniSTS:480800

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 communication	IEA Inferred from Electronic Annotation more info
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
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
part_of connexin complex	IBA Inferred from Biological aspect of Ancestor more info
located_in gap junction	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info

General protein information

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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.