Aliases for PAQR6 Gene

Aliases for PAQR6 Gene

  • Progestin And AdipoQ Receptor Family Member 6 2 3 4 5
  • Progesterone And AdipoQ Receptor Family Member 6 3 4
  • Membrane Progesterone P4 Receptor Delta 3 4
  • Membrane Progesterone Receptor Delta 3 4
  • Membrane Progestin Receptor Delta 3 4
  • MPR Delta 3 4
  • Progestin And AdipoQ Receptor Family Member VI Variant 3 3
  • Progestin And AdipoQ Receptor Family Member VI Variant 4 3
  • Progestin And AdipoQ Receptor Family Member VI Variant 5 3
  • Progestin And AdipoQ Receptor Family Member VI 2
  • PRdelta 3

External Ids for PAQR6 Gene

Previous GeneCards Identifiers for PAQR6 Gene

  • GC01M153429
  • GC01M153026
  • GC01M154479
  • GC01M156213
  • GC01M127574

Summaries for PAQR6 Gene

GeneCards Summary for PAQR6 Gene

PAQR6 (Progestin And AdipoQ Receptor Family Member 6) is a Protein Coding gene. Diseases associated with PAQR6 include Isolated Growth Hormone Deficiency, Type Ib and Intracranial Berry Aneurysm. An important paralog of this gene is PAQR5.

UniProtKB/Swiss-Prot Summary for PAQR6 Gene

  • Plasma membrane progesterone (P4) receptor coupled to G proteins (PubMed:23763432, PubMed:23161870). Seems to act through a G(s) mediated pathway (PubMed:23161870). Involved in neurosteroid inhibition of apoptosis (PubMed:23161870). May be involved in regulating rapid P4 signaling in the nervous system (PubMed:23763432). Also binds dehydroepiandrosterone (DHEA), pregnanolone, pregnenolone and allopregnanolone (PubMed:23763432, PubMed:23161870).

Additional gene information for PAQR6 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PAQR6 Gene

Genomics for PAQR6 Gene

GeneHancer (GH) Regulatory Elements for PAQR6 Gene

Promoters and enhancers for PAQR6 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
GH01J156247 Promoter/Enhancer 1.2 EPDnew ENCODE dbSUPER 521.2 +0.5 517 0.9 POLR2G RFX1 KLF7 POLR2A MYNN NR3C1 RBM22 GABPB1 SMAD4 SUPT5H PAQR6 BGLAP
GH01J156246 Promoter/Enhancer 0.9 Ensembl dbSUPER 500.7 +1.6 1587 0.2 POLR2G POLR2A ZFHX2 KLF17 MAZ AGO2 EGR2 AGO1 GLIS2 PAQR6 BGLAP
GH01J156249 Promoter/Enhancer 0.5 EPDnew dbSUPER 500.7 -1.2 -1171 0.1 PAQR6 piR-56522 SMG5
GH01J156290 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 32.9 -43.3 -43286 2.3 TCF12 NRF1 USF1 POLR2G NCOR1 KDM6A TCF7 ZBTB25 SKI TEAD1 SMG5 PAQR6 GLMP BGLAP TSACC CCT3 MIR9-1 C1orf61 LAMTOR2 UBQLN4
GH01J155965 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 22.3 +273.1 273111 19 FOXK2 HNRNPK ZBTB40 CTCF SIN3A NRF1 POLR2G USF1 NCOR1 GTF2E2 ARHGEF2 GON4L KHDC4 THBS3 CLK2 RIT1 RRNAD1 ENSG00000271267 PAQR6 PRCC
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PAQR6 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PAQR6

Top Transcription factor binding sites by QIAGEN in the PAQR6 gene promoter:
  • C/EBPbeta
  • p53
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for PAQR6 Gene

Genomic Locations for PAQR6 Gene
chr1:156,243,320-156,248,488
(GRCh38/hg38)
Size:
5,169 bases
Orientation:
Minus strand
chr1:156,213,206-156,217,881
(GRCh37/hg19)
Size:
4,676 bases
Orientation:
Minus strand

Genomic View for PAQR6 Gene

Genes around PAQR6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PAQR6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PAQR6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PAQR6 Gene

Proteins for PAQR6 Gene

  • Protein details for PAQR6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6TCH4-PAQR6_HUMAN
    Recommended name:
    Membrane progestin receptor delta
    Protein Accession:
    Q6TCH4
    Secondary Accessions:
    • B7Z9R9
    • D3DVB4
    • D3DVB6
    • Q5TCK9
    • Q6PDU0
    • Q7Z4Q7
    • Q7Z4Q9
    • Q8N121
    • Q8N3M2
    • Q9H621

    Protein attributes for PAQR6 Gene

    Size:
    344 amino acids
    Molecular mass:
    37989 Da
    Quaternary structure:
    • Homodimer.
    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).
    SequenceCaution:
    • Sequence=AAP97701.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=AAP97703.1; Type=Frameshift; Evidence={ECO:0000305}; Sequence=BAB15446.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for PAQR6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PAQR6 Gene

Post-translational modifications for PAQR6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PAQR6 Gene

Domains & Families for PAQR6 Gene

Gene Families for PAQR6 Gene

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

Protein Domains for PAQR6 Gene

Blocks:
  • Hly-III related proteins
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PAQR6 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ78933, highly similar to Progestin and adipoQ receptor family member 6 (B7Z9R9_HUMAN)
  • Progestin and adipoQ receptor family member VI (PAQR6_HUMAN)
  • Progestin and adipoQ receptor family member VI (Q5TCK5_HUMAN)
  • cDNA FLJ54068, highly similar to Progestin and adipoQ receptor family member 6 (Q5TCK7_HUMAN)
  • cDNA FLJ52547, highly similar to Progestin and adipoQ receptor family member 6 (Q5TCK8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q6TCH4

UniProtKB/Swiss-Prot:

PAQR6_HUMAN :
  • Belongs to the ADIPOR family.
Family:
  • Belongs to the ADIPOR family.
genes like me logo Genes that share domains with PAQR6: view

Function for PAQR6 Gene

Molecular function for PAQR6 Gene

UniProtKB/Swiss-Prot Function:
Plasma membrane progesterone (P4) receptor coupled to G proteins (PubMed:23763432, PubMed:23161870). Seems to act through a G(s) mediated pathway (PubMed:23161870). Involved in neurosteroid inhibition of apoptosis (PubMed:23161870). May be involved in regulating rapid P4 signaling in the nervous system (PubMed:23763432). Also binds dehydroepiandrosterone (DHEA), pregnanolone, pregnenolone and allopregnanolone (PubMed:23763432, PubMed:23161870).

Phenotypes From GWAS Catalog for PAQR6 Gene

Gene Ontology (GO) - Molecular Function for PAQR6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005496 steroid binding IEA --
GO:0008289 lipid binding IEA --
GO:0038023 signaling receptor activity IBA 21873635
genes like me logo Genes that share ontologies with PAQR6: view
genes like me logo Genes that share phenotypes with PAQR6: view

Animal Models for PAQR6 Gene

MGI Knock Outs for PAQR6:
  • Paqr6 Paqr6<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

miRNA for PAQR6 Gene

miRTarBase miRNAs that target PAQR6

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PAQR6 Gene

Localization for PAQR6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PAQR6 Gene

Cell membrane; Multi-pass membrane protein.

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 PAQR6 gene
Compartment Confidence
plasma membrane 4
extracellular 2
nucleus 1
cytosol 1
mitochondrion 0
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PAQR6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PAQR6: view

Pathways & Interactions for PAQR6 Gene

PathCards logo

SuperPathways for PAQR6 Gene

No Data Available

Interacting Proteins for PAQR6 Gene

;

Gene Ontology (GO) - Biological Process for PAQR6 Gene

None

No data available for Pathways by source and SIGNOR curated interactions for PAQR6 Gene

Drugs & Compounds for PAQR6 Gene

No Compound Related Data Available

Transcripts for PAQR6 Gene

mRNA/cDNA for PAQR6 Gene

12 REFSEQ mRNAs :
27 NCBI additional mRNA sequence :
18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PAQR6 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c · 7d ^ 8a · 8b ^ 9a · 9b · 9c ·
SP1: - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - -
SP4: - - -
SP5: - - -
SP6: - - - - - - - -
SP7: - - - - - - - -
SP8: - - - - - - - -
SP9: - - - - - - - - - - -
SP10: - - - - - - - - - - - - - - -
SP11: - - - - - - - -
SP12: - - - - - - -
SP13: - - - -
SP14: - - - - - - -
SP15: - - - - - -
SP16: - - - - - - -
SP17: - - - - - - - - - -
SP18: - - - - - - - -
SP19: - - - - - - - - - - - - - - - - -
SP20: - - - - - -
SP21: - - -
SP22: - - - - - - - -
SP23: - - - - - - - - -
SP24: -
SP25: - - - - - - - - - - - -
SP26: - - - - - - - - - - - -
SP27: - - - -
SP28: - - -
SP29: - - - - -
SP30: - -
SP31: - - - - - -

ExUns: 9d · 9e · 9f ^ 10a · 10b · 10c · 10d · 10e · 10f · 10g ^ 11a · 11b · 11c · 11d · 11e
SP1: -
SP2:
SP3: -
SP4:
SP5: -
SP6: -
SP7: -
SP8:
SP9:
SP10: -
SP11: - - -
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18: -
SP19: - - - -
SP20: - - -
SP21:
SP22:
SP23:
SP24:
SP25: - - -
SP26:
SP27:
SP28:
SP29:
SP30:
SP31: - - - -

Relevant External Links for PAQR6 Gene

GeneLoc Exon Structure for
PAQR6

Expression for PAQR6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PAQR6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PAQR6 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x19.5), Brain - Substantia nigra (x7.4), Brain - Hypothalamus (x4.4), and Brain - Hippocampus (x4.2).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PAQR6

SOURCE GeneReport for Unigene cluster for PAQR6 Gene:

Hs.235873

mRNA Expression by UniProt/SwissProt for PAQR6 Gene:

Q6TCH4-PAQR6_HUMAN
Tissue specificity: Brain specific (PubMed:16044242, PubMed:23763432). Highly expressed in the hypothalamus, also expressed in forebrain, amygdala, corpus callosum and spinal cord (PubMed:23161870).

Evidence on tissue expression from TISSUES for PAQR6 Gene

  • Nervous system(5)
  • Kidney(2.3)
genes like me logo Genes that share expression patterns with PAQR6: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PAQR6 Gene

Orthologs for PAQR6 Gene

This gene was present in the common ancestor of animals.

Orthologs for PAQR6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PAQR6 31 30
  • 99.52 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PAQR6 31 30
  • 90.6 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Paqr6 30
  • 85.13 (n)
mouse
(Mus musculus)
Mammalia Paqr6 17 31 30
  • 83.97 (n)
oppossum
(Monodelphis domestica)
Mammalia PAQR6 31
  • 41 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PAQR6 31
  • 27 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia paqr6 30
  • 69.97 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.12647 30
zebrafish
(Danio rerio)
Actinopterygii paqr6 31 30
  • 66.67 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea K11C4.2 31
  • 12 (a)
OneToMany
Species where no ortholog for PAQR6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • 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 PAQR6 Gene

ENSEMBL:
Gene Tree for PAQR6 (if available)
TreeFam:
Gene Tree for PAQR6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PAQR6: view image

Paralogs for PAQR6 Gene

Paralogs for PAQR6 Gene

(1) SIMAP similar genes for PAQR6 Gene using alignment to 10 proteins:

  • PAQR6_HUMAN
  • B7Z9R9_HUMAN
  • K9J961_HUMAN
  • K9J969_HUMAN
  • K9J974_HUMAN
  • Q5TCK5_HUMAN
  • Q5TCK7_HUMAN
  • Q5TCK8_HUMAN
  • Q6IQ11_HUMAN
  • Q7Z4Q8_HUMAN
genes like me logo Genes that share paralogs with PAQR6: view

Variants for PAQR6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PAQR6 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs759330 Association: Calcium oxalate urolithiasis 156,243,466(-) G/A

Additional dbSNP identifiers (rs#s) for PAQR6 Gene

Structural Variations from Database of Genomic Variants (DGV) for PAQR6 Gene

Variant ID Type Subtype PubMed ID
nsv509524 CNV insertion 20534489
nsv547967 CNV gain 21841781

Variation tolerance for PAQR6 Gene

Residual Variation Intolerance Score: 76% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.02; 37.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PAQR6 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PAQR6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PAQR6 Gene

Disorders for PAQR6 Gene

MalaCards: The human disease database

(2) MalaCards diseases for PAQR6 Gene - From: DISEASES

Disorder Aliases PubMed IDs
isolated growth hormone deficiency, type ib
  • pituitary dwarfism i
intracranial berry aneurysm
  • aneurysm, intracranial berry, 1
- elite association - COSMIC cancer census association via MalaCards
Search PAQR6 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PAQR6

genes like me logo Genes that share disorders with PAQR6: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PAQR6 Gene

Publications for PAQR6 Gene

  1. Heterologous expression of human mPRalpha, mPRbeta and mPRgamma in yeast confirms their ability to function as membrane progesterone receptors. (PMID: 18603275) Smith JL … Lyons TJ (Steroids 2008) 2 3 23 54
  2. Characterization, neurosteroid binding and brain distribution of human membrane progesterone receptors δ and {epsilon} (mPRδ and mPR{epsilon}) and mPRδ involvement in neurosteroid inhibition of apoptosis. (PMID: 23161870) Pang Y … Thomas P (Endocrinology 2013) 3 4 54
  3. PAQR proteins: a novel membrane receptor family defined by an ancient 7-transmembrane pass motif. (PMID: 16044242) Tang YT … Funk WD (Journal of molecular evolution 2005) 3 4 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for PAQR6 Gene

Sources for PAQR6 Gene