GJC2 gap junction protein gamma 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GJC2provided by HGNC
Official Full Name: gap junction protein gamma 2provided by HGNC
Primary source: HGNC:HGNC:17494
See related: Ensembl:ENSG00000198835 MIM:608803; AllianceGenome:HGNC:17494
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: Cx47; HLD2; GJA12; SPG44; CX46.6; LMPH1C; LMPHM3; PMLDAR
Summary: This gene encodes a gap junction protein. Gap junction proteins are members of a large family of homologous connexins and comprise 4 transmembrane, 2 extracellular, and 3 cytoplasmic domains. This gene plays a key role in central myelination and is involved in peripheral myelination in humans. Defects in this gene are the cause of autosomal recessive Pelizaeus-Merzbacher-like disease-1. [provided by RefSeq, Jul 2008]
Expression: Broad expression in brain (RPKM 4.2), endometrium (RPKM 1.5) and 19 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q42.13

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (228149930..228159826)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (227338927..227348822)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (228337631..228347527)

Chromosome 1 - NC_000001.11 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: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mechanisms of Diseases Associated with Mutation in GJC2/Connexin 47.
Title: Mechanisms of Diseases Associated with Mutation in GJC2/Connexin 47.
Identi fi cation of GJC2 gene mutations in Chinese patients with Pelizaeus-Merzbacher-like disease.
Title: Identiﬁcation of GJC2 gene mutations in Chinese patients with Pelizaeus-Merzbacher-like disease.
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.
Activation of the unfolded protein response by Connexin47 mutations associated with Pelizaeus-Merzbacher-like disease.
Title: Activation of the unfolded protein response by Connexin47 mutations associated with Pelizaeus-Merzbacher-like disease.
Resequencing of VEGFR3 pathway genes implicate GJC2 and FLT4 in the formation of primary congenital chylothorax.
Title: Resequencing of VEGFR3 pathway genes implicate GJC2 and FLT4 in the formation of primary congenital chylothorax.
The expression of the transcription factors Foxc2 and Nfatc1 and the gap junction proteins Gjc2, Gja1, and Gja4 were temporospatially regulated during this process.
Title: Human venous valve disease caused by mutations in FOXC2 and GJC2.
Connexin 43-connexin 47 channels are important for astrocyte/ oligodendrocyte cross-talk in myelination and demyelination. (Review)
Title: Connexin 43/47 channels are important for astrocyte/ oligodendrocyte cross-talk in myelination and demyelination.
Different mutations in the Cx47 lead to discrepant activation of unfolded protein response (UPR) pathway, which encouraged apoptotic cell death at different levels. Inappropriate activation of UPR may play important roles in the pathophysiology of Pelizaeus-Merzbacher-Like Disease.
Title: Different Mutations of Gap Junction Connexin 47 Lead to Discrepant Activation of Unfolded Protein Response Pathway in Pelizaeus-Merzbacher-Like Disease.
GJC2 promoter region mutation screening should be included in the evaluation of patients with unexplained hypomyelinating leukodystrophies.
Title: GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.
we provide evidence that a mutation in GJA1 leads not only to ODD as already described in the literature, but can also lead to lymphoedema as an associated feature.
Title: A novel mutation in GJA1 causing oculodentodigital syndrome and primary lymphoedema in a three generation family.

Submit: New GeneRIF Correction See all GeneRIFs (27)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Hereditary spastic paraplegia 44 MedGen: C2750784 OMIM: 613206 GeneReviews: Not available	Compare labs
Hypomyelinating leukodystrophy 2 MedGen: C1837355 OMIM: 608804 GeneReviews: Pelizaeus-Merzbacher-Like Disease 1	Compare labs
Lymphatic malformation 3 MedGen: C4747646 OMIM: 613480 GeneReviews: Not available	Compare labs

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH80270 (e-PCR)
- UniSTS:85332

D1S174E (e-PCR)
- UniSTS:147176

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables gap junction channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables gap junction channel activity involved in cell communication by electrical coupling	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in cell communication by electrical coupling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell-cell signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of G1/S transition of mitotic cell cycle	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of calcium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of gene expression	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of oligodendrocyte progenitor proliferation	IEA Inferred from Electronic Annotation more info
involved_in response to toxic substance	IEA Inferred from Electronic Annotation more info
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
located_in gap junction	IMP Inferred from Mutant Phenotype more info	PubMed
located_in myelin sheath	IEA Inferred from Electronic Annotation more info
located_in paranode region of axon	IEA Inferred from Electronic Annotation more info
located_in perikaryon	IEA Inferred from Electronic Annotation more info
located_in proximal neuron projection	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: gap junction gamma-2 protein

Names: connexin-46.6; connexin-47; gap junction alpha-12 protein; gap junction protein, gamma 2, 47kDa

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.