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The protein encoded by this gene belongs to the innexin family. Innexin family members are known to be the structural components of gap junctions. [provided by RefSeq, Jul 2008]
PANX3 (Pannexin 3) is a Protein Coding gene. Diseases associated with PANX3 include Oculodentodigital Dysplasia and Chronic Closed-Angle Glaucoma. Gene Ontology (GO) annotations related to this gene include gap junction hemi-channel activity and wide pore channel activity. An important paralog of this gene is PANX1.
GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
---|---|---|---|---|---|---|---|---|---|---|
GH11J124611 | Promoter | 0.3 | EPDnew | 600.7 | 0.0 | -41 | 0.1 | PANX3 OR8Q1P lnc-OR8A1-1-002 OR8A1 | ||
GH11J124612 | Enhancer | 0.2 | Ensembl | 600.7 | +0.8 | 789 | 0.4 | PANX3 OR8B8 TBRG1 | ||
GH11J124607 | Enhancer | 0.8 | Ensembl | 0.7 | -3.3 | -3327 | 0.6 | JUND PKNOX1 HDAC1 SOX6 FOXJ2 EP300 ZNF766 TAF9B NFE2 ZNF316 | OR8B8 ROBO3 PANX3 OR8Q1P lnc-OR8A1-1-002 OR8A1 | |
GH11J124605 | Enhancer | 0.5 | Ensembl | 0.4 | -5.6 | -5627 | 1.6 | SPI1 GABPA ATF1 ZBTB33 ZKSCAN8 | ROBO3 OR8B8 OR8Q1P lnc-OR8A1-1-002 PANX3 OR8A1 | |
GH11J124595 | Enhancer | 0.4 | Ensembl | 0.4 | -10.7 | -10728 | 1.8 | POLR2A HMBOX1 NR2F6 ATF2 | OR8Q1P lnc-OR8A1-1-002 OR8B4 OR8B8 ROBO3 PANX3 lnc-OR8A1-1-001 OR8A1 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005198 | structural molecule activity | ISS | -- |
GO:0015267 | channel activity | IEA | -- |
GO:0022829 | wide pore channel activity | IBA | 21873635 |
GO:0055077 | NOT gap junction hemi-channel activity | ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | IBA | 21873635 |
GO:0005921 | gap junction | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
GO:0030054 | cell junction | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006811 | ion transport | IEA | -- |
GO:0006812 | cation transport | IBA | 21873635 |
GO:0007267 | cell-cell signaling | IEA,IBA | 21873635 |
GO:0050716 | positive regulation of interleukin-1 secretion | IEA | -- |
GO:0055085 | transmembrane transport | IEA | -- |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | PANX3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | PANX3 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Panx3 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Panx3 30 17 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | PANX3 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | PANX3 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | PANX3 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | PANX3 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | PANX3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC101734171 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | panx3 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs34498516 | - | p.Gly95Arg | |||
rs35569094 | - | p.Thr208Ala |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3627983 | CNV | loss | 21293372 |
nsv1045156 | CNV | loss | 25217958 |
Disorder | Aliases | PubMed IDs |
---|---|---|
oculodentodigital dysplasia |
|
|
chronic closed-angle glaucoma |
|
|
charcot-marie-tooth disease |
|
|