GJC2
Sign in to saveAlso known as CX46.6, Cx47, GJA12, HLD2, LMPH1C, PMLDAR, SPG44, gap junction protein gamma 2
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.
Gene data
GJC2- Name
- gap junction protein gamma 2
- Type
- protein-coding
- Position
- 228,149,891–228,159,826 (+)
- Aliases
- CX46.6, Cx47, GJA12, HLD2, LMPH1C, LMPHM3, PMLDAR, SPG44
- Ensembl
- ENSG00000198835
- RefSeq RNA
- NM_020435.4
- RefSeq protein
- NP_065168.2
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].
Gene Ontology
Biological process
Molecular function
Pathways
via MyGene.info
Gene · Ensembl
gap junction protein gamma 2
- Symbol
- GJC2
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 1:228,149,891-228,159,826
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 8 more facts
- HomoloGene ID
- 10715
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/57165
- genomic end
- 228347527
- genomic start
- 228149930
- chromosome
- human chromosome 1
- cytogenetic location
- 1q42.13
- expressed in
- pars compacta
via Wikidata · CC0
~1 min read
Encyclopedic overview
4 sectionsContents
- Function
- Clinical significance
- References
- Further reading
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.
== Function ==
Excerpted from Wikipedia’s “GJC2” article, available under the CC BY-SA 4.0 licence.