PANX2
protein-codingpannexin 2, the group of Pannexins
Gene summary
The protein encoded by this gene belongs to the innexin family. Innexin family members are the structural components of gap junctions. This protein and pannexin 1 are abundantly expressed in central nervous system (CNS) and are coexpressed in various neuronal populations. Studies in Xenopus oocytes suggest that this protein alone and in combination with pannexin 1 may form cell type-specific gap junctions with distinct properties. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~9.6 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to PANX2 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_052839.4. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 2 | 4 | 6 | |||
| missense | 93 | 5 | 98 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 95 | 9 | 0 | 104 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_443071.2 | 3 | MANE Select | |
| Ensembl | ENSP00000379183.2 | 3 | MANE Select | |
| RefSeq | NP_001153772.1 | 4 | Standard | |
| Ensembl | ENSP00000159647.5 | 4 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Electric Transmission Across Gap Junctions
- Transmission across Electrical Synapses
- Neuronal System
Biological Process
- response to ischemia
- cation transport
- cell-cell signaling
- protein hexamerization
- positive regulation of interleukin-1 secretion
Molecular Function
- wide pore channel activity
- gap junction hemi-channel activity
Cellular Component
- cytoplasm
- plasma membrane
- gap junction
- integral component of membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000395842
- Coding exons
- 3
- Length
- 9564
- Individuals with no LoFs
- 125380
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 93
- Defined
- 125473
- p
- 0.000371
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 3.35 | 238 | 434 | 0.548 | 0.0000331 | 4257 |
| Missense (PolyPhen) | 70 | 200.53 | 0.34907 | 1957 | ||
| Synonymous | 0.894 | 205 | 222 | 0.924 | 0.0000195 | 1457 |
| Loss of Function | 0.964 | 10 | 13.9 | 0.721 | 5.95e-7 | 184 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0014 | 0.0013 | notable |
| Latino/Admixed American | 0.00012 | 0.00012 | rare |
| Ashkenazi Jewish | 0.00010 | 0.000099 | rare |
| East Asian | 0.0027 | 0.0027 | notable |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.00015 | 0.00014 | rare |
| South Asian | 0.000099 | 0.000065 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: Structural component of the gap junctions and the hemichannels. {ECO:0000250}.;
Recessive Scores
- pRec
- 0.113
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.178
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |