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

Gene ID: 118454, updated on 2-Nov-2024

Summary

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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, Nov 2024]
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

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See Gjc2 in Genome Data Viewer
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_000077.7Genomic Context describing neighboring genes Neighboring gene obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF Neighboring gene predicted gene 10435 Neighboring gene STARR-seq mESC enhancer starr_29614 Neighboring gene STARR-positive B cell enhancer ABC_E5231 Neighboring gene STARR-seq mESC enhancer starr_29616 Neighboring gene IBA57 homolog, iron-sulfur cluster assembly Neighboring gene STARR-positive B cell enhancer ABC_E6990 Neighboring gene RIKEN cDNA 2610507I01 gene Neighboring gene STARR-positive B cell enhancer ABC_E5232 Neighboring gene guanylate kinase 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data 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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Related articles in PubMed

  1. Oligodendroglial connexin 47 regulates neuroinflammation upon autoimmune demyelination in a novel mouse model of multiple sclerosis. Zhao Y, et al. Proc Natl Acad Sci U S A, 2020 Jan 28. PMID 31932428, Free PMC Article
  2. Oligodendrocytes in the Mouse Corpus Callosum Maintain Axonal Function by Delivery of Glucose. Meyer N, et al. Cell Rep, 2018 Feb 27. PMID 29490274
  3. Cx32 and Cx47 mediate oligodendrocyte:astrocyte and oligodendrocyte:oligodendrocyte gap junction coupling. Wasseff SK, et al. Neurobiol Dis, 2011 Jun. PMID 21396451, Free PMC Article
  4. Astrocytes and oligodendrocytes in the thalamus jointly maintain synaptic activity by supplying metabolites. Philippot C, et al. Cell Rep, 2021 Jan 19. PMID 33472059
  5. Oligodendrocytes in mouse corpus callosum are coupled via gap junction channels formed by connexin47 and connexin32. Maglione M, et al. Glia, 2010 Jul. PMID 20468052

See all (52) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. 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)
  • Endonuclease-mediated (3) 
  • Targeted (4)  1 citation

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC130506

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 IEA
Inferred from Electronic Annotation
more info
  
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 by electrical coupling 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 IEA
Inferred from Electronic Annotation
more info
  
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 IEA
Inferred from Electronic Annotation
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 IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of gene expression ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of oligodendrocyte progenitor proliferation IEA
Inferred from Electronic Annotation
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 
involved_in transmembrane transport IEA
Inferred from Electronic Annotation
more info
  
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 IDA
Inferred from Direct Assay
more info
 PubMed 
located_in gap junction ISO
Inferred from Sequence Orthology
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 IEA
Inferred from Electronic Annotation
more info
  
located_in paranode region of axon ISO
Inferred from Sequence Orthology
more info
  
located_in perikaryon IEA
Inferred from Electronic Annotation
more info
  
located_in perikaryon ISO
Inferred from Sequence Orthology
more info
  
located_in proximal neuron projection 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)

  1. 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

  2. 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

  1. NC_000077.7 Reference GRCm39 C57BL/6J

    Range
    59066390..59074039 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. 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
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8BQU6.2 GenPept UniProtKB/Swiss-Prot:Q8BQU6

Gene LinkOut

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