Aliases for PGRMC2 Gene

Aliases for PGRMC2 Gene

  • Progesterone Receptor Membrane Component 2 2 3 5
  • PMBP 2 3 4
  • DG6 2 3 4
  • Membrane-Associated Progesterone Receptor Component 2 3 4
  • Steroid Receptor Protein DG6 3 4
  • Progesterone Membrane Binding Protein 3
  • Progesterone Membrane-Binding Protein 4
  • PGRMC2 5

External Ids for PGRMC2 Gene

Previous GeneCards Identifiers for PGRMC2 Gene

  • GC04M130123
  • GC04M129484
  • GC04M129650
  • GC04M129548
  • GC04M129190
  • GC04M124921

Summaries for PGRMC2 Gene

GeneCards Summary for PGRMC2 Gene

PGRMC2 (Progesterone Receptor Membrane Component 2) is a Protein Coding gene. Diseases associated with PGRMC2 include Arthrogryposis, Distal, Type 6 and Arthrogryposis, Distal, Type 7. Gene Ontology (GO) annotations related to this gene include heme binding and steroid binding. An important paralog of this gene is PGRMC1.

UniProtKB/Swiss-Prot Summary for PGRMC2 Gene

  • Required for the maintenance of uterine histoarchitecture and normal female reproductive lifespan (By similarity). May serve as a universal non-classical progesterone receptor in the uterus (Probable). Intracellular heme chaperone required for delivery of labile, or signaling heme, to the nucleus (By similarity). Plays a role in adipocyte function and systemic glucose homeostasis (PubMed:28111073). In brown fat, which has a high demand for heme, delivery of labile heme in the nucleus regulates the activity of heme-responsive transcriptional repressors such as NR1D1 and BACH1 (By similarity).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PGRMC2 Gene

Genomics for PGRMC2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PGRMC2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J128284 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 259.8 +1.4 1377 6.5 TBP SP1 MXD4 CEBPA FOXA1 MNT IKZF1 SMAD5 ETS1 HES1 PGRMC2 LINC02615 lnc-MFSD8-8 MFSD8 PLK4 ABHD18 piR-61365-013 LARP1B
GH04J128551 Promoter/Enhancer 2 Ensembl ENCODE CraniofacialAtlas dbSUPER 20.8 -264.6 -264611 3 TBP BCL11A FEZF1 MNT IKZF1 IRF2 CTCF BHLHE40 ZIC2 ARNT ENSG00000273077 HSALNG0037071 LOC101927259 MFSD8 PGRMC2 RPL21P53 ABHD18 INTU JADE1 C4orf33
GH04J128516 Enhancer 1.7 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 9.7 -234.3 -234271 14.2 TBP BCL11A ZNF217 NR2C1 MNT IKZF1 IRF2 NONO ZIC2 CEBPB LINC02615 JADE1 PGRMC2 HSALNG0037071 piR-61289-058
GH04J128467 Enhancer 1.3 FANTOM5 Ensembl ENCODE 11.2 -181.4 -181371 4.8 IKZF1 IRF2 BHLHE40 ZNF395 VEZF1 MAFF ZEB2 TAL1 MYNN ZNF316 MFSD8 JADE1 PGRMC2 ABHD18 LINC02615 piR-61289-058 HSALNG0037071
GH04J128320 Enhancer 1.2 FANTOM5 Ensembl ENCODE 11.7 -34.1 -34076 4.2 IKZF1 BRCA1 CEBPB MAX EP300 ZEB2 RAD21 CTBP1 RFX5 TEAD3 LINC02615 PGRMC2 HSALNG0037067 JADE1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PGRMC2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PGRMC2

Top Transcription factor binding sites by QIAGEN in the PGRMC2 gene promoter:
  • c-Myb
  • E47
  • FOXD1
  • FOXO1
  • FOXO1a
  • Lmo2
  • POU2F1
  • POU2F1a
  • TBP
  • ZID

Genomic Locations for PGRMC2 Gene

Latest Assembly
chr4:128,269,237-128,288,829
(GRCh38/hg38)
Size:
19,593 bases
Orientation:
Minus strand

Previous Assembly
chr4:129,190,397-129,208,968
(GRCh37/hg19 by Entrez Gene)
Size:
18,572 bases
Orientation:
Minus strand

chr4:129,190,397-129,209,984
(GRCh37/hg19 by Ensembl)
Size:
19,588 bases
Orientation:
Minus strand

Genomic View for PGRMC2 Gene

Genes around PGRMC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PGRMC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PGRMC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PGRMC2 Gene

Proteins for PGRMC2 Gene

  • Protein details for PGRMC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O15173-PGRC2_HUMAN
    Recommended name:
    Membrane-associated progesterone receptor component 2
    Protein Accession:
    O15173
    Secondary Accessions:
    • Q569H1

    Protein attributes for PGRMC2 Gene

    Size:
    223 amino acids
    Molecular mass:
    23818 Da
    Quaternary structure:
    • Interacts with PGRMC1 (By similarity). Interacts with AAAS (PubMed:27754849).
    Miscellaneous:
    • Non-classical progesterone receptors involved in extranuclear signaling are classified in 2 groups: the class II progestin and adipoQ receptor (PAQR) family (also called mPRs) (PAQR5, PAQR6, PAQR7, PAQR8 and PAQR9) and the b5-like heme/steroid-binding protein family (also called MAPRs) (PGRMC1, PGRMC2, NENF and CYB5D2).

    Alternative splice isoforms for PGRMC2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PGRMC2 Gene

Post-translational modifications for PGRMC2 Gene

  • Ubiquitination at Lys126, Lys135, Lys191, and Lys193
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PGRMC2 Gene

Domains & Families for PGRMC2 Gene

Gene Families for PGRMC2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for PGRMC2 Gene

InterPro:
Blocks:
  • Cytochrome b5
ProtoNet:

Suggested Antigen Peptide Sequences for PGRMC2 Gene

GenScript: Design optimal peptide antigens:
  • Progesterone receptor membrane component 2, isoform CRA_a (D3DNX8_HUMAN)
  • Steroid receptor protein DG6 (PGRC2_HUMAN)
  • cDNA FLJ34422 fis, clone HHDPC2005185, moderately similar to STEROID RECEPTOR PROTEIN DG6 (Q8NB07_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O15173

UniProtKB/Swiss-Prot:

PGRC2_HUMAN :
  • The cytochrome b5 heme-binding domain lacks the conserved iron-binding His residues at positions 137 and 161.
  • Belongs to the cytochrome b5 family. MAPR subfamily.
Domain:
  • The cytochrome b5 heme-binding domain lacks the conserved iron-binding His residues at positions 137 and 161.
Family:
  • Belongs to the cytochrome b5 family. MAPR subfamily.
genes like me logo Genes that share domains with PGRMC2: view

Function for PGRMC2 Gene

Molecular function for PGRMC2 Gene

UniProtKB/Swiss-Prot Function:
Required for the maintenance of uterine histoarchitecture and normal female reproductive lifespan (By similarity). May serve as a universal non-classical progesterone receptor in the uterus (Probable). Intracellular heme chaperone required for delivery of labile, or signaling heme, to the nucleus (By similarity). Plays a role in adipocyte function and systemic glucose homeostasis (PubMed:28111073). In brown fat, which has a high demand for heme, delivery of labile heme in the nucleus regulates the activity of heme-responsive transcriptional repressors such as NR1D1 and BACH1 (By similarity).

Phenotypes From GWAS Catalog for PGRMC2 Gene

Gene Ontology (GO) - Molecular Function for PGRMC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003707 steroid hormone receptor activity TAS 9705155
GO:0005496 steroid binding TAS,IEA --
GO:0005515 protein binding IPI 27599036
GO:0008289 lipid binding IEA --
GO:0015232 heme transporter activity IEA --
genes like me logo Genes that share ontologies with PGRMC2: view
genes like me logo Genes that share phenotypes with PGRMC2: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PGRMC2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PGRMC2 Gene

Localization for PGRMC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PGRMC2 Gene

Membrane. Single-pass membrane protein. Nucleus envelope. Endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PGRMC2 gene
Compartment Confidence
nucleus 5
endoplasmic reticulum 5
cytosol 3
plasma membrane 3
mitochondrion 2
extracellular 2
cytoskeleton 1
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nuclear bodies (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PGRMC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope IEA,IDA 25468996
GO:0005783 endoplasmic reticulum IEA,IDA 27754849
GO:0012505 endomembrane system IBA 21873635
GO:0016020 membrane IBA 21873635
genes like me logo Genes that share ontologies with PGRMC2: view

Pathways & Interactions for PGRMC2 Gene

PathCards logo

SuperPathways for PGRMC2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PGRMC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015886 heme transport IEA --
GO:0043401 steroid hormone mediated signaling pathway IEA --
GO:0060612 adipose tissue development IMP 28111073
genes like me logo Genes that share ontologies with PGRMC2: view

No data available for Pathways by source and SIGNOR curated interactions for PGRMC2 Gene

Drugs & Compounds for PGRMC2 Gene

(3) Drugs for PGRMC2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Progesterone Approved, Vet_approved Pharma Endogenous progesterone receptor agonist 791
Fe2+ Experimental Pharma 0
heme Pharma 0
genes like me logo Genes that share compounds with PGRMC2: view

Transcripts for PGRMC2 Gene

mRNA/cDNA for PGRMC2 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PGRMC2

Alternative Splicing Database (ASD) splice patterns (SP) for PGRMC2 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b ^ 4a · 4b · 4c · 4d
SP1: - - - -
SP2: - -
SP3: -
SP4:

Relevant External Links for PGRMC2 Gene

GeneLoc Exon Structure for
PGRMC2

Expression for PGRMC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PGRMC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PGRMC2 Gene

This gene is overexpressed in Nasal epithelium (12.5), Bone (12.3), and Adipocyte (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PGRMC2 Gene



Protein tissue co-expression partners for PGRMC2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PGRMC2

SOURCE GeneReport for Unigene cluster for PGRMC2 Gene:

Hs.507910

mRNA Expression by UniProt/SwissProt for PGRMC2 Gene:

O15173-PGRC2_HUMAN
Tissue specificity: Expressed by endometrial glands and stroma (at protein level).

Evidence on tissue expression from TISSUES for PGRMC2 Gene

  • Kidney(4.6)
  • Liver(4.5)
  • Nervous system(4)
  • Skin(2.9)
  • Heart(2.3)
  • Muscle(2.2)
  • Adrenal gland(2.2)
genes like me logo Genes that share expression patterns with PGRMC2: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PGRMC2 Gene

Orthologs for PGRMC2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PGRMC2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PGRMC2 30 31
  • 99.33 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PGRMC2 30 31
  • 95.67 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PGRMC2 30 31
  • 94.47 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PGRMC2 31
  • 89 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Pgrmc2 30 17 31
  • 87.25 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pgrmc2 30
  • 86.02 (n)
Oppossum
(Monodelphis domestica)
Mammalia PGRMC2 31
  • 64 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PGRMC2 30 31
  • 83.13 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PGRMC2 31
  • 73 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pgrmc2 30
  • 75.31 (n)
LOC394928 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.33468 30
Zebrafish
(Danio rerio)
Actinopterygii pgrmc2 30 31
  • 69.46 (n)
OneToOne
wufb25g12 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG9066 32
  • 53 (a)
MSBP 31
  • 35 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea vem-1 31
  • 32 (a)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes DAP1 31
  • 30 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.4516 30
Species where no ortholog for PGRMC2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for PGRMC2 Gene

ENSEMBL:
Gene Tree for PGRMC2 (if available)
TreeFam:
Gene Tree for PGRMC2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PGRMC2: view image

Paralogs for PGRMC2 Gene

Paralogs for PGRMC2 Gene

(1) SIMAP similar genes for PGRMC2 Gene using alignment to 4 proteins:

  • PGRC2_HUMAN
  • D3DNX8_HUMAN
  • U3KQ70_HUMAN
  • U3KQM0_HUMAN
genes like me logo Genes that share paralogs with PGRMC2: view

Variants for PGRMC2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PGRMC2 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs41298555 Uncertain Significance: Hirschsprung disease 1 128,287,678(-) C/T
NM_006320.6(PGRMC2):c.113G>A (p.Gly38Glu)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PGRMC2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PGRMC2 Gene

Variant ID Type Subtype PubMed ID
esv3307446 CNV mobile element insertion 20981092
esv3310213 CNV mobile element insertion 20981092
esv3435397 CNV insertion 20981092
nsv292512 CNV insertion 16902084

Variation tolerance for PGRMC2 Gene

Residual Variation Intolerance Score: 50.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.98; 36.63% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PGRMC2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PGRMC2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PGRMC2 Gene

Disorders for PGRMC2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for PGRMC2 Gene - From: COP and GCD

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for PGRMC2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PGRMC2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PGRMC2 Gene

Publications for PGRMC2 Gene

  1. Cloning and tissue expression of two putative steroid membrane receptors. (PMID: 9705155) Gerdes D … Falkenstein E (Biological chemistry 1998) 2 3 4
  2. Ligand and Target Discovery by Fragment-Based Screening in Human Cells. (PMID: 28111073) Parker CG … Cravatt BF (Cell 2017) 3 4
  3. Identification of a novel putative interaction partner of the nucleoporin ALADIN. (PMID: 27754849) Jühlen R … Koehler K (Biology open 2016) 3 4
  4. Expression patterns of progesterone receptor membrane components 1 and 2 in endometria from women with and without endometriosis. (PMID: 23793472) Bunch K … Stallings JD (Reproductive sciences (Thousand Oaks, Calif.) 2014) 3 4
  5. Maternal and fetal genetic associations of PTGER3 and PON1 with preterm birth. (PMID: 20140262) Ryckman KK … Jacobsson B (PloS one 2010) 3 41

Products for PGRMC2 Gene

Sources for PGRMC2 Gene