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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]
GJC2 (Gap Junction Protein Gamma 2) is a Protein Coding gene. Diseases associated with GJC2 include Leukodystrophy, Hypomyelinating, 2 and Spastic Paraplegia 44, Autosomal Recessive. Among its related pathways are Vesicle-mediated transport and G-Beta Gamma Signaling. Gene Ontology (GO) annotations related to this gene include gap junction channel activity. An important paralog of this gene is GJC1.
Gap channels (gap junctions) are specialized cell-cell contacts that provide direct intracellular communication. They allow passive diffusion of molecules up to 1 kDa, including nutrients, metabolites (glucose), ions (K+, Ca2+) and second messengers (IP3, cAMP).
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005243 | gap junction channel activity | IBA | 21873635 |
GO:1903763 | gap junction channel activity involved in cell communication by electrical coupling | IMP | 17344063 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | IEA | -- |
GO:0005921 | gap junction | IMP | 17344063 |
GO:0005922 | connexin complex | IBA | 21873635 |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Gap junction trafficking | ||
2 | Vesicle-mediated transport | ||
3 | G-Beta Gamma Signaling |
Signaling in Gap Junctions
.30
|
|
4 | Myometrial Relaxation and Contraction Pathways |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001932 | regulation of protein phosphorylation | IEA | -- |
GO:0007154 | cell communication | IEA | -- |
GO:0007267 | cell-cell signaling | IBA | 21873635 |
GO:0007420 | brain development | IEA | -- |
GO:0009636 | response to toxic substance | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Flufenamic acid | Approved | Pharma | Inhibitor | Calcium-activated chloride channel blocker; NSAID. Also activates TRPC6 | 0 | |
Carbenoxolone | Experimental | Pharma | Inhibitor | 0 | ||
octanol | Investigational | Pharma | Inhibitor | 0 | ||
Ca<sup>2+</sup> | Pharma | Inhibitor | 0 | |||
10Panx | Pharma | Panx-1 mimetic inhibitor, Panx-1 mimetic inhibitory peptide; blocks pannexin-1 gap junctions | 0 |
Compound | Action | Cas Number |
---|---|---|
10Panx | Panx-1 mimetic inhibitory peptide; blocks pannexin-1 gap junctions | 955091-53-9 |
Carbenoxolone disodium | Gap junction blocker. Also inhibitor of 11 beta-hydroxysteroid dehydrogenase | 7421-40-1 |
Gap 26 | Gap junction blocker; inhibits smooth muscle contraction and IP3-mediated ATP release | 197250-15-0 |
Gap 27 | Selective gap junction blocker | 198284-64-9 |
Scrambled 10Panx | Scrambled version of 10Panx (Cat. No. 3348), Panx-1 mimetic inhibitory peptide | 1315378-72-3 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GJC2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GJC2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GJC2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Gjc2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Gjc2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | GJC2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | GJC2 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | GJC2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | Str.2895 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | cx47.1 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
841232 | Uncertain Significance: Spastic paraplegia | 228,158,176(+) |
G/A NM_020435.4(GJC2):c.418G>A (p.Asp140Asn) |
MISSENSE | |
844827 | Uncertain Significance: Spastic paraplegia | 228,158,980(+) |
C/T NM_020435.4(GJC2):c.1222C>T (p.Arg408Trp) |
MISSENSE | |
853781 | Uncertain Significance: Spastic paraplegia | 228,158,998(+) |
C/G NM_020435.4(GJC2):c.1240C>G (p.Arg414Gly) |
MISSENSE | |
870536 | Likely Pathogenic: Leukodystrophy, hypomyelinating, 2 | 228,158,641(+) |
C/T NM_020435.4(GJC2):c.883C>T (p.Gln295Ter) |
NONSENSE | |
872625 | Pathogenic: not provided | 228,157,906(+) |
G/T NM_020435.4(GJC2):c.148G>T (p.Glu50Ter) |
NONSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv105n67 | CNV | gain | 20364138 |
dgv839n54 | CNV | loss | 21841781 |
esv32853 | CNV | gain | 17666407 |
nsv1160102 | CNV | deletion | 26073780 |
nsv473804 | CNV | novel sequence insertion | 20440878 |
nsv523935 | CNV | loss | 19592680 |
nsv549290 | CNV | loss | 21841781 |
nsv549291 | CNV | loss | 21841781 |
nsv826908 | CNV | gain | 20364138 |
nsv827019 | CNV | loss | 20364138 |
nsv827031 | CNV | gain | 20364138 |
nsv952137 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
leukodystrophy, hypomyelinating, 2 |
|
|
spastic paraplegia 44, autosomal recessive |
|
|
lymphatic malformation 3 |
|
|
lymphatic malformation 1 |
|
|
pelizaeus-merzbacher-like disease |
|