GeneBe

PANX1

protein-coding

pannexin 1, 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 2 are abundantly expressed in central nerve system (CNS) and are coexpressed in various neuronal populations. Studies in Xenopus oocytes suggest that this protein alone and in combination with pannexin 2 may form cell type-specific gap junctions with distinct properties. [provided by RefSeq, Jul 2008]

MANE transcript

NM_015368.4

Inheritance

AD, AR

ClinVar variants

P:3U:71B:19

Top phenotype

Oocyte/zygote/embryo maturation arrest 7

gnomAD constraint

pLI —, LoF o/e 0.68

Max pathogenic AF

—

Genomic locus

chr11:94,128,841-94,181,968

External References & Databases

Ensembl (ENSG00000110218)NCBI Gene (24145)OMIM (608420)HGNC:8599GenCCUniProt (Q96RD7)AlphaFoldClinVar (PANX1)gnomADPubMedJAXSFARI

Transcript & Mutation Effects

hg38 • Region Span ~53.1 kb
Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

oocyte maturation defect 7STRONG

Inheritance Pattern: AD

Disease ID:MONDO:0032810

Submitter: Labcorp Genetics (formerly Invitae)

oocyte maturation defect 7STRONG

Inheritance Pattern: AR

Disease ID:MONDO:0032810

Submitter: PanelApp Australia

oocyte maturation defect 7STRONG

Inheritance Pattern: AD

Disease ID:MONDO:0032810

Submitter: PanelApp Australia

Clinical Genomic Database (CGD)

Oocyte/zygote/embryo maturation arrest 7AD

Manifestation: Obstetric

Intervention: General

Rationale: Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing

Refs: 30918116Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to PANX1 variants in ClinVar

4 Conditions Cataloged
not specifiedTotal: 68
not providedTotal: 12
Oocyte maturation defect 7Total: 12
PANX1-related disorderTotal: 8

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_015368.4. 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.

EffectPLPVUSLBBSum
synonymous
2
clinvar
7
clinvar
1
clinvar
 10
missense
2
clinvar
66
clinvar
9
clinvar
2
clinvar
 79
nonsense
1
clinvar
1
clinvar
 2
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
2
clinvar
 2
Total307116393
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 12 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_015368.4RefSeqNP_056183.25MANE Select
ENST00000227638.8EnsemblENSP00000227638.35MANE Select
ENST00000436171.2EnsemblENSP00000411461.25Standard
ENST00000436171.3EnsemblENSP00000411461.25Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / ModelOrganismObserved Phenotype
panx1aDanio rerio

Structure: brain

Quality: decreased amount

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

  • NOD-like receptor signaling pathway - Homo sapiens (human)
  • miR-targeted genes in lymphocytes - TarBase
  • miR-targeted genes in muscle cell - TarBase
  • Electric Transmission Across Gap Junctions
  • Transmission across Electrical Synapses

Biological Process

  • response to ischemia
  • cation transport
  • calcium ion transport
  • cell-cell signaling
  • response to ATP

Molecular Function

  • protease binding
  • signaling receptor binding
  • calcium channel activity
  • wide pore channel activity
  • leak channel activity

Cellular Component

  • endoplasmic reticulum
  • endoplasmic reticulum membrane
  • plasma membrane
  • gap junction
  • membrane

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000227638
Coding exons
5
Length
53045
Individuals with no LoFs
125709
Homozygous LoFs
0
Heterozygous LoFs
39
Defined
125748
p
0.000155
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense-0.4242552371.080.00001262783
Missense (PolyPhen)9899.650.983441154
Synonymous-0.3301071031.040.00000613842
Loss of Function1.221116.30.6757.74e-7197

Population LoF Frequency

PopulationCAFp-valueStatus
African0.0000620.000062rare
Latino/Admixed American0.000120.00012rare
Ashkenazi Jewish00.0absent
East Asian0.000160.00016rare
Finnish00.0absent
European (Non-Finnish)0.000160.00016rare
South Asian0.000410.00039rare
Other0.000170.00016rare

dbNSFP Gene Annotations

Source: dbNSFP

Function
FUNCTION: Structural component of the gap junctions and the hemichannels. May play a role as a Ca(2+)-leak channel to regulate ER Ca(2+) homeostasis. {ECO:0000269|PubMed:16908669, ECO:0000269|PubMed:20829356}.;

Recessive Scores

pRec
0.111

Intolerance Scores

LoFtool
0.570
RVIS EVS
0.35
RVIS percentile EVS
74.49

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
N
Essential (gene trap)
N
Indispensability pred.
N
Indispensability score
0.282

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
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