PGRMC2

Progesterone Receptor Membrane Component 2

Gene Information Card

Symbol PGRMC2
Full Name Progesterone Receptor Membrane Component 2
Gene Type protein-coding
Chromosomal Location 4q28.2
NCBI Gene ID 10424 ncbi.nlm.nih.gov/gene/10424
Ensembl ID ENSG00000164040
UniProt ID O15173
OMIM ID 607735
HGNC ID 8909
Aliases DG6, PMBP

Description

PGRMC2 (progesterone receptor membrane component 2) is a protein-coding gene located on chromosome 4q28.2. It encodes a membrane-associated progesterone receptor that binds progesterone and is involved in various cellular processes including steroid hormone signaling, cell survival, and metabolism. The protein is a member of the membrane-associated progesterone receptor (MAPR) family and contains a cytochrome b5-like heme/steroid-binding domain.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Cancer (breast, ovarian, endometrial) PGRMC2 overexpression may promote cell proliferation and resistance to apoptosis via progesterone signaling pathways. NCBI Gene, UniProt
Metabolic disorders (obesity, insulin resistance) PGRMC2 modulates lipid metabolism and insulin sensitivity through interaction with progesterone and other ligands. UniProt, PubMed
Neurological disorders Potential role in neurosteroid signaling and neuroprotection, but evidence is limited. UniProt

Expression Profile

Tissue Expression
Tissue nTPM level
Liver 12.5 Medium
Kidney 10.2 Medium
Heart 8.1 Low
Brain 6.4 Low
Lung 5.3 Low
Cell Line Expression
Cell Line nTPM Notes
HepG2 15.0 Hepatocellular carcinoma cell line
MCF7 9.8 Breast cancer cell line
HeLa 7.2 Cervical cancer cell line
HEK293 6.5 Embryonic kidney cell line
Data source:Human Protein Atlas(proteinatlas.org)

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.347C>T (p.Thr116Met) missense <0.01% Unknown functional impact; rare variant in population databases
c.512A>G (p.Asn171Ser) missense <0.01% Unknown functional impact; rare variant in population databases
Mutation functional classification

Loss of Function (LOF)

No confirmed loss-of-function mutations reported in PGRMC2.

Gain of Function (GOF)

No confirmed gain-of-function mutations reported in PGRMC2.

Dominant Negative (DN)

No confirmed dominant-negative mutations reported in PGRMC2.

Gene Ontology (GO)

• progesterone binding • heme binding
• steroid binding • membrane
• endoplasmic reticulum • nucleus
• signal transduction • cell proliferation

Pathways

Progesterone signaling pathway
Steroid hormone biosynthesis

Protein Summary

PGRMC2 encodes a 223-amino acid protein (UniProt O15173) that is a membrane-associated progesterone receptor. It contains a cytochrome b5-like domain that binds heme and steroids, particularly progesterone. The protein localizes to the endoplasmic reticulum and plasma membrane, and is involved in progesterone-mediated signaling, cell survival, and metabolic regulation. It is expressed in multiple tissues including liver, kidney, and heart.

Related Products

Product name Cat.No. Species Gene ID
PGRMC2 Knockout HEK293 Cell Line EDJ-KQ7042 Human 10424 Details Get a Quote
PGRMC2 Knockout A-549 Cell Line EDJ-KQ31809 Human 10424 Details Get a Quote
PGRMC2 Knockout HCT 116 Cell Line EDJ-KQ31810 Human 10424 Details Get a Quote
PGRMC2 Knockout HeLa Cell Line EDJ-KQ31811 Human 10424 Details Get a Quote
Displaying Records 1 To 4 Of 4 Records
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