CHP2

Chr 16

calcineurin like EF-hand protein 2

NCBI Gene: 63928 ENSG00000166869 UniProt: O43745

This protein functions as a calcium-binding cofactor that regulates cell pH by controlling plasma membrane Na+/H+ exchange activity and activates calcineurin phosphatase activity in the calcineurin/NFAT signaling pathway. Mutations in CHP2 cause autosomal recessive neurodevelopmental disorder with seizures and brain atrophy, typically presenting in early childhood. The gene shows minimal constraint against loss-of-function variants, which is consistent with its recessive inheritance pattern.

ResearchSummary from RefSeq, UniProt

This gene product is a small calcium-binding protein that regulates cell pH by controlling plasma membrane-type Na+/H+ exchange activity. This protein shares sequence similarity with calcineurin B and can bind to and stimulate the protein phosphatase activity of calcineurin A (CnA) and functions in the calcineurin/NFAT (nuclear factor of activated T cells) signaling pathway. Another member of the CHP subfamily, Calcineurin B homologous protein 1, is located on Chromosome 15 and is an inhibitor of calcineurin activity and has a genetic phenotype associated with Parkinson's Disease (OMIM:606988). This gene was initially identified as a tumor-associated antigen and was previously referred to as Hepatocellular carcinoma-associated antigen 520. [provided by RefSeq, Jul 2013]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.47

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)