GJC2

Gap junction gamma-2 (GJC2), also known as connexin-46.6 (Cx46.6) and connexin-47 (Cx47) and gap junction alpha-12 (GJA12), is a protein that in humans is encoded by the GJC2 gene.^[5]

GJC2
Identifiers
Aliases	GJC2, CX46.6, Cx47, GJA12, HLD2, LMPH1C, PMLDAR, SPG44, gap junction protein gamma 2, LMPHM3
External IDs	OMIM: 608803; MGI: 2153060; HomoloGene: 10715; GeneCards: GJC2; OMA:GJC2 - orthologs
Gene location (Human) Chr. Chromosome 1 (human)[1] Band 1q42.13 Start 228,149,930 bp[1] End 228,159,826 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11 B1.3|11 37.05 cM Start 59,066,394 bp[2] End 59,074,039 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in C1 segment inferior ganglion of vagus nerve subthalamic nucleus ventral tegmental area gonad Pons Medulla Oblongata Brodmann area 10 lateral nuclear group of thalamus pars compacta Top expressed in lumbar subsegment of spinal cord layer of hippocampus deep cerebellar nuclei radiate layer of hippocampus molecular layer of neocortex pontine nuclei lateral geniculate nucleus pyramidal layer of hippocampus central gray substance of midbrain globus pallidus More reference expression data BioGPS n/a
Gene ontology Molecular function gap junction channel activity gap junction channel activity involved in cell communication by electrical coupling Cellular component integral component of membrane myelin sheath cell junction plasma membrane connexin complex membrane gap junction paranode region of axon soma perikaryon proximal neuron projection Biological process cell communication cell-cell signaling response to toxic substance transmembrane transport cell communication by electrical coupling regulation of protein phosphorylation brain development positive regulation of gene expression positive regulation of oligodendrocyte progenitor proliferation positive regulation of calcium ion transmembrane transport negative regulation of G1/S transition of mitotic cell cycle Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 57165 118454 Ensembl ENSG00000198835 ENSMUSG00000043448 UniProt Q5T442 Q8BQU6 RefSeq (mRNA) NM_020435 NM_080454 NM_175452 RefSeq (protein) NP_065168 NP_536702 NP_780661 Location (UCSC) Chr 1: 228.15 – 228.16 Mb Chr 11: 59.07 – 59.07 Mb PubMed search [3] [4]
Wikidata
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Function

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.^[5]

Clinical significance

Homozygous or compound heterozygous defects in this gene are the cause of autosomal recessive Pelizaeus-Merzbacher-like disease-1.^[5]

Heterozygous missense mutations in this same gene cause pubertal onset hereditary lymphedema.