Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PAQR8 Gene

Aliases for PAQR8 Gene

  • Progestin And AdipoQ Receptor Family Member 8 2 3 4 5
  • Progestin And AdipoQ Receptor Family Member VIII 2 3 4
  • Progesterone And AdipoQ Receptor Family Member 8 3 4
  • Membrane Progesterone P4 Receptor Beta 3 4
  • Membrane Progesterone Receptor Beta 3 4
  • MPR Beta 3 4
  • C6orf33 3 4
  • LMPB1 3 4
  • MPRB 3 4
  • Lysosomal Membrane Protein In Brain-1 3
  • Lysosomal Membrane Protein In Brain 1 4
  • Chromosome 6 Open Reading Frame 33 2
  • Membrane Progestin Receptor Beta 3

External Ids for PAQR8 Gene

Previous HGNC Symbols for PAQR8 Gene

  • C6orf33

Previous GeneCards Identifiers for PAQR8 Gene

  • GC06P052226
  • GC06P052058

Summaries for PAQR8 Gene

GeneCards Summary for PAQR8 Gene

PAQR8 (Progestin And AdipoQ Receptor Family Member 8) is a Protein Coding gene. Diseases associated with PAQR8 include Epilepsy With Generalized Tonic-Clonic Seizures and Adolescence-Adult Electroclinical Syndrome. Gene Ontology (GO) annotations related to this gene include steroid hormone receptor activity and steroid binding. An important paralog of this gene is PAQR7.

UniProtKB/Swiss-Prot for PAQR8 Gene

  • Plasma membrane progesterone (P4) receptor coupled to G proteins (PubMed:23763432). Seems to act through a G(i) mediated pathway (PubMed:23763432). May be involved in oocyte maturation (By similarity). Also binds dehydroepiandrosterone (DHEA), pregnanolone, pregnenolone and allopregnanolone (PubMed:23161870).

Gene Wiki entry for PAQR8 Gene

Additional gene information for PAQR8 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PAQR8 Gene

Genomics for PAQR8 Gene

GeneHancer (GH) Regulatory Elements for PAQR8 Gene

Promoters and enhancers for PAQR8 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
GH06I052359 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 570.4 +0.5 450 4.1 HDGF PKNOX1 FOXA2 ARID4B SIN3A DMAP1 SLC30A9 ZNF143 ZNF207 SP3 PAQR8 EFHC1
GH06I052364 Promoter/Enhancer 0.8 EPDnew dbSUPER 550.8 +2.7 2665 0.1 ZNF362 EFHC1 PAQR8 PIR61259
GH06I052388 Enhancer 2.1 VISTA FANTOM5 Ensembl ENCODE dbSUPER 17.1 +28.8 28770 3.7 HDGF FOXA2 SMAD1 MLX ARID4B FEZF1 IRF4 YY1 ZNF766 JUNB EFHC1 PAQR8 MCM3 IL17F SLC25A20P1 PIR61259
GH06I052351 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 17.5 -8.9 -8883 2.3 HDGF SMAD1 FOXA2 ARNT ARID4B ZNF2 IRF4 SLC30A9 FOS DEK MCM3 PAQR8 EFHC1 GC06M052308
GH06I052283 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 11.7 -76.5 -76472 3.6 HDGF PKNOX1 SMAD1 FOXA2 ARNT ARID4B SIN3A DMAP1 ZNF2 IRF4 MCM3 GC06P052285 LOC646517 EFHC1 PAQR8 GC06P052308
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PAQR8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PAQR8 gene promoter:

Genomic Locations for PAQR8 Gene

Genomic Locations for PAQR8 Gene
chr6:52,361,421-52,407,777
(GRCh38/hg38)
Size:
46,357 bases
Orientation:
Plus strand
chr6:52,226,219-52,272,575
(GRCh37/hg19)

Genomic View for PAQR8 Gene

Genes around PAQR8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PAQR8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PAQR8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PAQR8 Gene

Proteins for PAQR8 Gene

  • Protein details for PAQR8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8TEZ7-PAQR8_HUMAN
    Recommended name:
    Membrane progestin receptor beta
    Protein Accession:
    Q8TEZ7
    Secondary Accessions:
    • B2RCF6
    • Q86WL0
    • Q8N6D3
    • Q9HD02

    Protein attributes for PAQR8 Gene

    Size:
    354 amino acids
    Molecular mass:
    40464 Da
    Quaternary structure:
    No Data Available
    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=AAR08374.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAC05478.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for PAQR8 Gene

Post-translational modifications for PAQR8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PAQR8 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PAQR8 Gene

Domains & Families for PAQR8 Gene

Gene Families for PAQR8 Gene

Protein Domains for PAQR8 Gene

Suggested Antigen Peptide Sequences for PAQR8 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TEZ7

UniProtKB/Swiss-Prot:

PAQR8_HUMAN :
  • Belongs to the ADIPOR family.
Family:
  • Belongs to the ADIPOR family.
genes like me logo Genes that share domains with PAQR8: view

Function for PAQR8 Gene

Molecular function for PAQR8 Gene

UniProtKB/Swiss-Prot Function:
Plasma membrane progesterone (P4) receptor coupled to G proteins (PubMed:23763432). Seems to act through a G(i) mediated pathway (PubMed:23763432). May be involved in oocyte maturation (By similarity). Also binds dehydroepiandrosterone (DHEA), pregnanolone, pregnenolone and allopregnanolone (PubMed:23161870).

Phenotypes From GWAS Catalog for PAQR8 Gene

Gene Ontology (GO) - Molecular Function for PAQR8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003707 steroid hormone receptor activity IBA --
GO:0005496 steroid binding IBA --
GO:0008289 lipid binding IEA --
genes like me logo Genes that share ontologies with PAQR8: view
genes like me logo Genes that share phenotypes with PAQR8: view

Animal Model Products

  • Taconic Biosciences Mouse Models for PAQR8

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PAQR8 Gene

Localization for PAQR8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PAQR8 Gene

Cell membrane; Multi-pass membrane protein. Note=Colocalizes with a lysosomal protein CTSD/cathepsin D. {ECO:0000269 PubMed:11676489}.

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 PAQR8 gene
Compartment Confidence
plasma membrane 5
golgi apparatus 4
mitochondrion 1
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Golgi apparatus (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PAQR8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005794 Golgi apparatus IDA --
GO:0005886 plasma membrane IBA,IDA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PAQR8: view

Pathways & Interactions for PAQR8 Gene

SuperPathways for PAQR8 Gene

No Data Available

Interacting Proteins for PAQR8 Gene

Gene Ontology (GO) - Biological Process for PAQR8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0030154 cell differentiation IEA --
GO:0043401 steroid hormone mediated signaling pathway IEA --
GO:0048477 oogenesis IEA --
GO:0048545 response to steroid hormone IBA --
genes like me logo Genes that share ontologies with PAQR8: view

No data available for Pathways by source and SIGNOR curated interactions for PAQR8 Gene

Drugs & Compounds for PAQR8 Gene

No Compound Related Data Available

Transcripts for PAQR8 Gene

mRNA/cDNA for PAQR8 Gene

Unigene Clusters for PAQR8 Gene

Progestin and adipoQ receptor family member VIII:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for PAQR8 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4
SP1:
SP2: - -

Relevant External Links for PAQR8 Gene

GeneLoc Exon Structure for
PAQR8
ECgene alternative splicing isoforms for
PAQR8

Expression for PAQR8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PAQR8 Gene

mRNA differential expression in normal tissues according to GTEx for PAQR8 Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x7.8) and Brain - Substantia nigra (x4.6).

Protein differential expression in normal tissues from HIPED for PAQR8 Gene

This gene is overexpressed in Prostate (66.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PAQR8 Gene



Protein tissue co-expression partners for PAQR8 Gene

NURSA nuclear receptor signaling pathways regulating expression of PAQR8 Gene:

PAQR8

SOURCE GeneReport for Unigene cluster for PAQR8 Gene:

Hs.239388

mRNA Expression by UniProt/SwissProt for PAQR8 Gene:

Q8TEZ7-PAQR8_HUMAN
Tissue specificity: Highly expressed in the hypothalamus (PubMed:23161870). Also expressed in spinal cord, kidney and testis.

Evidence on tissue expression from TISSUES for PAQR8 Gene

  • Nervous system(4.9)
genes like me logo Genes that share expression patterns with PAQR8: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for PAQR8 Gene

Orthologs for PAQR8 Gene

This gene was present in the common ancestor of animals.

Orthologs for PAQR8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PAQR8 33 34
  • 99.53 (n)
oppossum
(Monodelphis domestica)
Mammalia PAQR8 34
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PAQR8 33 34
  • 88.04 (n)
rat
(Rattus norvegicus)
Mammalia Paqr8 33
  • 87.57 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PAQR8 34
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Paqr8 33 16 34
  • 86.63 (n)
cow
(Bos Taurus)
Mammalia PAQR8 33 34
  • 85.31 (n)
chicken
(Gallus gallus)
Aves PAQR8 33 34
  • 76.58 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia paqr8 33
  • 66.48 (n)
African clawed frog
(Xenopus laevis)
Amphibia mpr-A-prov 33
zebrafish
(Danio rerio)
Actinopterygii paqr8 33 34
  • 59.77 (n)
PAQR8 (1 of 2) 34
  • 55 (a)
OneToMany
mprb 33
worm
(Caenorhabditis elegans)
Secernentea K11C4.2 33 34
  • 40.05 (n)
Species where no ortholog for PAQR8 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)
  • 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)
  • 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 PAQR8 Gene

ENSEMBL:
Gene Tree for PAQR8 (if available)
TreeFam:
Gene Tree for PAQR8 (if available)

Paralogs for PAQR8 Gene

Paralogs for PAQR8 Gene

(1) SIMAP similar genes for PAQR8 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with PAQR8: view

Variants for PAQR8 Gene

Sequence variations from dbSNP and Humsavar for PAQR8 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000167290 -- 52,392,372(+) G/A intron_variant
rs1000202266 -- 52,399,787(+) A/G intron_variant
rs1000272617 -- 52,390,807(+) G/A intron_variant
rs1000320235 -- 52,372,664(+) C/T intron_variant
rs1000322751 -- 52,384,178(+) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PAQR8 Gene

Variant ID Type Subtype PubMed ID
esv21698 CNV gain 19812545
esv2763551 CNV loss 21179565
esv3608994 CNV gain 21293372
esv3608996 CNV gain 21293372
nsv1025395 CNV gain 25217958
nsv1027645 CNV gain 25217958
nsv527443 CNV loss 19592680
nsv950179 CNV duplication 24416366

Variation tolerance for PAQR8 Gene

Residual Variation Intolerance Score: 14.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.63; 13.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PAQR8 Gene

Human Gene Mutation Database (HGMD)
PAQR8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PAQR8

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PAQR8 Gene

Disorders for PAQR8 Gene

MalaCards: The human disease database

(4) MalaCards diseases for PAQR8 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
epilepsy with generalized tonic-clonic seizures
  • epileptic seizures, tonic-clonic
adolescence-adult electroclinical syndrome
bronchopneumonia
  • bronchial pneumonia
epilepsy, idiopathic generalized 10
  • epilepsy, idiopathic generalized, susceptibility to, 10
- elite association - COSMIC cancer census association via MalaCards
Search PAQR8 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PAQR8

genes like me logo Genes that share disorders with PAQR8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PAQR8 Gene

Publications for PAQR8 Gene

  1. A novel gene in the chromosomal region for juvenile myoclonic epilepsy on 6p12 encodes a brain-specific lysosomal membrane protein. (PMID: 11676489) Suzuki T … Yamakawa K (Biochemical and biophysical research communications 2001) 2 3 4 22 58
  2. 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 58
  3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  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 58
  5. Cloning, expression, and characterization of a membrane progestin receptor and evidence it is an intermediary in meiotic maturation of fish oocytes. (PMID: 12574519) Zhu Y … Thomas P (Proceedings of the National Academy of Sciences of the United States of America 2003) 2 3 58

Products for PAQR8 Gene

Sources for PAQR8 Gene

Content
Loading form....