Gjc2 gap junction protein, gamma 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gjc2provided by MGI
Official Full Name: gap junction protein, gamma 2provided by MGI
Primary source: MGI:MGI:2153060
See related: Ensembl:ENSMUSG00000043448 AllianceGenome:MGI:2153060
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: Cx47; Cxno; Gja12; B230382L12Rik
Summary: Enables gap junction channel activity. Acts upstream of or within cell-cell signaling and response to toxic substance. Located in gap junction and myelin sheath. Is expressed in brain; ovary; and spinal cord. Used to study hypomyelinating leukodystrophy 2. Human ortholog(s) of this gene implicated in hereditary lymphedema IC; hereditary spastic paraplegia 44; hypomyelinating leukodystrophy 2; and lymphedema. Orthologous to human GJC2 (gap junction protein gamma 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in cerebellum adult (RPKM 10.6), cortex adult (RPKM 5.5) and 14 other tissues See more
Orthologs: human all
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Genomic context

Location:: 11 B1.3; 11 37.05 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	11	NC_000077.7 (59066390..59074039, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	11	NC_000077.6 (59175564..59183213, complement)

Chromosome 11 - NC_000077.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

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?

Lack of embryonic homozygous or adult heterozygous lymphatic phenotypes for a Sos1 mutation and lack of lymphatic embryonic phenotypes for a homozygous Cx47 mutation in mice.
Title: Lack of embryonic homozygous or adult heterozygous lymphatic phenotypes for a Sos1 mutation and lack of lymphatic embryonic phenotypes for a homozygous Cx47 mutation in mice.
Oligodendroglia-specific Cx47 ablation induces severe inflammation upon autoimmune demyelination.
Title: Oligodendroglial connexin 47 regulates neuroinflammation upon autoimmune demyelination in a novel mouse model of multiple sclerosis.
This study found the much more severe disruption of the blood-spinal cord barrier in the Cx47KO, than in EAE mice.
Title: Regulatory role of oligodendrocyte gap junctions in inflammatory demyelination.
Main findings are that i) Cx47 is involved in the reversal of acute increases in serum triglycerides, ii) serum lipid levels of mice on chow but not high-cholesterol diet are affected by Cx47 and iii) Cx47-deficiency tends to increase plaque size but decreases macrophage content of diet-induced atherosclerotic plaques. Results show that Cx47-deficient mice do not display an overt lymphatic phenotype.
Title: Cx47 fine-tunes the handling of serum lipids but is dispensable for lymphatic vascular function.
Data show that segregation of Foxc2 and NFATc1 transcription factor is closely associated with the highly polarized expression of connexins Cx37, Cx43, and Cx47.
Title: Segregated Foxc2, NFATc1 and Connexin expression at normal developing venous valves, and Connexin-specific differences in the valve phenotypes of Cx37, Cx43, and Cx47 knockout mice.
This study showed that Connexin47 alterations after neural precursor cells transplantation in experimental autoimmune encephalomyelitis.
Title: Connexin43 and connexin47 alterations after neural precursor cells transplantation in experimental autoimmune encephalomyelitis.
This study demonistrated that Cx30/Cx47 double-deficient mice has the functional role of both connexins for interastrocytic, interoligodendrocytic, and panglial coupling, and show that both connexins are required for maintenance of myelin.
Title: Panglial gap junctional communication is essential for maintenance of myelin in the CNS.
PMLD1 (Pelizaeus-Merzbacher-like disease 1) is caused by the loss of Cx47 channel function that results in impaired panglial coupling in white matter tissue.
Title: Pathologic and phenotypic alterations in a mouse expressing a connexin47 missense mutation that causes Pelizaeus-Merzbacher-like disease in humans.
oligodendrocyte-astrocyte gap junction coupling in Cx32 or Cx47 knockout mice. In the neocortex, oligodendrocytes appeared to be directly and exclusively coupled to astrocytes; Cx47, but not Cx32, was required for O:A coupling.
Title: Cx32 and Cx47 mediate oligodendrocyte:astrocyte and oligodendrocyte:oligodendrocyte gap junction coupling.
oligodendrocytes in white matter form a functional syncytium predominantly among each other dependent on Cx47 and Cx32 expression, while astrocytic connexins expression can promote the size of this network
Title: Oligodendrocytes in mouse corpus callosum are coupled via gap junction channels formed by connexin47 and connexin32.

Submit: New GeneRIF Correction See all GeneRIFs (14)

Variation

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Alleles

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

Targeted (4) 1 citation
Endonuclease-mediated (3)

General gene information

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Markers

RH125874 (e-PCR)
- UniSTS:162608

NoName (e-PCR)
- UniSTS:489544

RH143586 (e-PCR)
- UniSTS:232832

AV026611 (e-PCR)
- UniSTS:180211

RH124198 (e-PCR)
- UniSTS:161020

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables gap junction channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables gap junction channel activity	IDA Inferred from Direct Assay more info	PubMed
enables gap junction channel activity involved in cell communication by electrical coupling	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in cell communication	IEA Inferred from Electronic Annotation more info
involved_in cell communication by electrical coupling	ISO Inferred from Sequence Orthology more info
involved_in cell-cell signaling	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cell-cell signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of G1/S transition of mitotic cell cycle	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of calcium ion transmembrane transport	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of gene expression	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of oligodendrocyte progenitor proliferation	ISO Inferred from Sequence Orthology more info
involved_in regulation of protein phosphorylation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to toxic substance	IDA Inferred from Direct Assay 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	IDA Inferred from Direct Assay more info	PubMed
located_in gap junction	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in myelin sheath	IDA Inferred from Direct Assay more info	PubMed
located_in neuronal cell body	ISO Inferred from Sequence Orthology more info
located_in paranode region of axon	ISO Inferred from Sequence Orthology more info
located_in perikaryon	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IEA Inferred from Electronic Annotation more info
located_in proximal neuron projection	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: gap junction gamma-2 protein

Names: connexin 47 type A; connexin 47 type C; connexin 47 type D; connexin o; connexin-47; gap junction alpha-12 protein; gap junction membrane channel protein alpha 12; gap junction protein, chi 2

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_080454.4 → NP_536702.3 gap junction gamma-2 protein

See identical proteins and their annotated locations for NP_536702.3

Status: VALIDATED

Description

Transcript Variant: This variant (1) uses a different segment for its 5' UTR, compared to variant 2. Variants 1 and 2 encode the same protein.

Source sequence(s)

AI853334, AK046609

Consensus CDS

CCDS24760.1

UniProtKB/Swiss-Prot

Q6TLV2, Q8BQS2, Q8BQU6, Q9EPM1

UniProtKB/TrEMBL

A0A654IDS7

Related

ENSMUSP00000104418.2, ENSMUST00000108790.2

Conserved Domains (1) summary

pfam00029
Location:5 → 290

Connexin
NM_175452.4 → NP_780661.2 gap junction gamma-2 protein

See identical proteins and their annotated locations for NP_780661.2

Status: VALIDATED

Description

Transcript Variant: This variant (2) represents the longer transcript. Variants 1 and 2 encode the same protein.

Source sequence(s)

AI853334, AK046421, AK046609

Consensus CDS

CCDS24760.1

UniProtKB/Swiss-Prot

Q6TLV2, Q8BQS2, Q8BQU6, Q9EPM1

UniProtKB/TrEMBL

A0A654IDS7

Related

ENSMUSP00000104421.3, ENSMUST00000108793.9

Conserved Domains (1) summary

pfam00029
Location:5 → 290

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_000077.7 Reference GRCm39 C57BL/6J

Range

59066390..59074039 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_036156249.1 → XP_036012142.1 gap junction gamma-2 protein isoform X1

UniProtKB/Swiss-Prot

Q6TLV2, Q8BQS2, Q8BQU6, Q9EPM1

UniProtKB/TrEMBL

A0A654IDS7

Conserved Domains (1) summary

pfam00029
Location:5 → 290

Connexin