ANO7

Chr 2

anoctamin 7

Also known as: D-TMPP, DTMPP, IPCA-5, IPCA5, NGEP, PCANAP5, PCANAP5L, TMEM16G

NCBI Gene: 50636 ENSG00000146205 UniProt: Q6IWH7 OMIM: 605096

ANO7 encodes a calcium-dependent phospholipid scramblase that translocates phospholipids across cell membranes and may function in cell-cell interactions. This gene is not well-established as a cause of pediatric neurological disease, as it is primarily expressed in prostate tissue and associated with prostate cancer research. The gene shows no intolerance to loss-of-function variants (pLI near zero), suggesting it may not be essential for normal development.

OMIM ResearchSummary from RefSeq, UniProt

This prostate-specific gene encodes a cytoplasmic protein, as well as a polytopic membrane protein which may serve as a target in prostate cancer diagnosis and immunotherapy. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2011]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.37

LOEUF

Multiple*

Mechanism· predicted