PANX2

Chr 22

pannexin 2

Also known as: PX2, hPANX2

NCBI Gene: 56666 ENSG00000073150 UniProt: Q96RD6

Pannexin 2 is an ion channel with anion preference that also releases ATP and forms gap junctions in the central nervous system, where it is abundantly expressed alongside pannexin 1 in various neuronal populations. Mutations cause autosomal recessive developmental and epileptic encephalopathy with onset in infancy, characterized by seizures, developmental delay, and intellectual disability. The gene shows very low constraint to loss-of-function variation in the general population.

ResearchSummary from RefSeq, UniProt

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]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.22

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)