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Tbio
GJC2
Gap junction gamma-2 protein

Protein Summary
Description
One gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. May play a role in myelination in central and peripheral nervous systems. 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]
Uniprot Accession IDs
Gene Name
Ensembl ID
  • ENST00000366714
  • ENSP00000355675
  • ENSG00000198835

Symbol
  • GJA12
  • Cx47
  • HLD2
  • GJA12
  • SPG44
  • CX46.6
  • LMPH1C
  • LMPHM3
  • PMLDAR
Illumination Graph
Knowledge Table
Most Knowledge About
Knowledge Value (0 to 1 scale)
cell type or tissue
0.75
phenotype
0.69
tissue
0.62
gene perturbation
0.59
protein domain
0.58


IDG Development Level Summary
Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 84.06   (req: < 5)
Gene RIFs: 21   (req: <= 3)
Antibodies: 173   (req: <= 50)
Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 84.06   (req: >= 5)
Gene RIFs: 21   (req: > 3)
Antibodies: 173   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 10
Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0
Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0
Expression Data (0 Tissues)
No expression data found
Protein Sequence and Structure
Residue Counts
Protein Sequence
ProtVista Viewer
Related Tools (4)
Target Illumination GWAS Analytics (TIGA)
Thumbnail image for Target Illumination GWAS Analytics (TIGA)
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA
Thumbnail image for GENEVA
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen
Thumbnail image for GlyGen
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4
Thumbnail image for ARCHS4
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
Approved Drugs (0)
No approved drugs found
Active Ligands (0)
No active ligands found
Protein-Protein Interactions (64)
FAM126A
Tbio
Novelty:  0.0250547
Score:  0.75
Data Source:  STRINGDB
PNPLA6
Tbio
Family:  Enzyme
Novelty:  0.00295195
Score:  0.721
Data Source:  STRINGDB
PLP1
Tbio
Novelty:  0.00129083
Score:  0.693
Data Source:  STRINGDB
WARS
Tbio
Family:  Enzyme
Novelty:  0.00202764
Score:  0.641
Data Source:  STRINGDB
AP5Z1
Tbio
Family:  TF
Novelty:  0.14368974
Score:  0.641
Data Source:  STRINGDB
AIMP1
Tbio
Family:  Enzyme
Novelty:  0.00743447
Score:  0.641
Data Source:  STRINGDB
GSK3B
Tclin
Family:  Kinase
Novelty:  0.00095115
Score:  0.628
Data Source:  STRINGDB
SPG21
Tbio
Family:  Enzyme
Novelty:  0.07929043
Score:  0.624
Data Source:  STRINGDB
SPG11
Tbio
Novelty:  0.00697875
Score:  0.622
Data Source:  STRINGDB
GJE1
Tdark
Novelty:  0.03519662
Score:  0.614
Data Source:  STRINGDB
Nearest Tclin Targets
Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.
Pathways (6)
Gap junction assembly (R-HSA-190861)

Click on a row in the table to change the structure displayed.

Find Similar Targets
Items per page:
1 – 5 of 5
Data Source
Name
Explore in Pharos
Explore in Source
Reactome
Gap junction assembly
Reactome
Gap junction trafficking
Reactome
Gap junction trafficking and regulation
Reactome
Membrane Trafficking
Reactome
Vesicle-mediated transport
Name
Explore in Pharos
Explore in Source
Gap junction assembly
Gap junction trafficking
Gap junction trafficking and regulation
Membrane Trafficking
Vesicle-mediated transport
Viral Interactions (0)
No viral interactions found
Disease Associations (null)
No disease associations found
GWAS Traits (3)
GWAS Trait
EFO ID
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
adolescent idiopathic scoliosis
2
1
0
1.2
67
aging
1
1
0
1.6
56.5
cortical surface area measurement
1
1
0
7.8
53.3
GWAS Trait
EFO ID
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
adolescent idiopathic scoliosis
0
1.2
67
aging
0
1.6
56.5
cortical surface area measurement
0
7.8
53.3
Find similar targets by:
IDG Resources
No IDG generated resources found
Orthologs (7)
1 – 5 of 7
Species
Name
Source ID
Gene ID
OMA
EggNOG
Inparanoid
Chimp
gap junction protein gamma 2
VGNC:1250
739535
Macaque
gap junction protein gamma 2
695161
Mouse
MGI:2153060
118454
Rat
RGD:1562712
497913
Cow
gap junction protein gamma 2
VGNC:29383
538745
Species
Name
OMA
EggNOG
Inparanoid
Chimp
gap junction protein gamma 2
Macaque
gap junction protein gamma 2
Mouse
Rat
Cow
gap junction protein gamma 2
Publication Statistics
PubMed Score 84.06
PubMed score by year
PubTator Score 51.71
PubTator score by year
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Related Publications
Items per page:
0 of 0
PMID
Year
Title