PGRMC2

Chr 4

progesterone receptor membrane component 2

Also known as: DG6, PMBP

NCBI Gene: 10424 ENSG00000164040 UniProt: O15173 OMIM: 607735

The protein functions as an intracellular heme chaperone that delivers heme to the nucleus and regulates heme-responsive transcriptional repressors, while also playing roles in adipocyte function and glucose homeostasis. Mutations cause autosomal recessive primary ovarian insufficiency, affecting female reproductive development and function. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.59), suggesting intolerance to complete protein loss.

OMIM ResearchSummary from RefSeq, UniProt

Enables heme binding activity. Involved in adipose tissue development. Located in endoplasmic reticulum and nuclear envelope. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.59

LOEUF

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Mechanism