Gjd4 gap junction protein, delta 4 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gjd4provided by MGI
Official Full Name: gap junction protein, delta 4provided by MGI
Primary source: MGI:MGI:2444990
See related: Ensembl:ENSMUSG00000036855 AllianceGenome:MGI:2444990
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: Cx39; Cxnu; 9430022F06Rik
Summary: Predicted to enable gap junction channel activity. Acts upstream of or within regulation of satellite cell activation involved in skeletal muscle regeneration. Located in plasma membrane. Is expressed in several structures, including diaphragm; limb segment; liver; lung; and skeletal musculature. Orthologous to human GJD4 (gap junction protein delta 4). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in limb E14.5 (RPKM 1.3), CNS E11.5 (RPKM 0.2) and 2 other tissues See more
Orthologs: human all
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Genomic context

Location:: 18 A1; 18 4.91 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	18	NC_000084.7 (9278124..9289808, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	18	NC_000084.6 (9278124..9289808, complement)

Chromosome 18 - NC_000084.7 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?

Data show that myogenesis in Cx39 KO mice is accelerated by increased myogenin expression on ED13.5 and 16.5 and increased Cx43 in developing skeletal muscle, and suggest that Cx43 may compensate for loss of Cx39 during myogenesis and regeneration.
Title: Connexin39 deficient mice display accelerated myogenesis and regeneration of skeletal muscle.
connexin39 gene is expressed in developing striated muscle fibers
Title: The novel mouse connexin39 gene is expressed in developing striated muscle fibers.
Immunofluorescence staining revealed abundant Cx37 and Cx43 puncta within the zona pellucida of both preantral and antral follicles
Title: Cx37 and Cx43 localize to zona pellucida in mouse ovarian follicles.
Upon differentiation into myotubes, Cx39 expression increased in mouse embryo.
Title: Spatiotemporal expression of connexin 39 and -43 during myoblast differentiation in cultured cells and in the mouse embryo.

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Variation

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Alleles

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

Endonuclease-mediated (1)
Targeted (2) 1 citation

General gene information

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Markers

NoName (e-PCR)
- UniSTS:487705

NoName (e-PCR)
- UniSTS:495673

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables gap junction channel activity	IBA Inferred from Biological aspect of Ancestor more info

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 regulation of satellite cell activation involved in skeletal muscle regeneration	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	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: gap junction delta-4 protein

Names: connexin u; connexin-39; connexin39

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)

NM_153086.6 → NP_694726.2 gap junction delta-4 protein

See identical proteins and their annotated locations for NP_694726.2

Status: VALIDATED

Source sequence(s)

AC108777

Consensus CDS

CCDS29049.1

UniProtKB/Swiss-Prot

B2RQL7, Q8BSD4, Q8C6W6, Q91YD0

Related

ENSMUSP00000035472.4, ENSMUST00000041007.4

Conserved Domains (3) summary

smart00037
Location:43 → 76

CNX; Connexin homologues

smart01089
Location:132 → 197

Connexin_CCC; Gap junction channel protein cysteine-rich domain

pfam00029
Location:5 → 198

Connexin; 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

NC_000084.7 Reference GRCm39 C57BL/6J

Range

9278124..9289808 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006525809.3 → XP_006525872.1 gap junction delta-4 protein isoform X1

UniProtKB/TrEMBL

A0A654ICD8

Conserved Domains (1) summary

pfam00029
Location:18 → 176

Connexin