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Aliases for PAQR8 Gene

Aliases for PAQR8 Gene

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

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. GO annotations related to this gene include steroid hormone receptor activity and steroid binding. An important paralog of this gene is PAQR6.

UniProtKB/Swiss-Prot for PAQR8 Gene

  • Steroid membrane receptor. Binds progesterone. May be involved in oocyte maturation (By similarity).

Gene Wiki entry for PAQR8 Gene

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

Genomics for PAQR8 Gene

Regulatory Elements for PAQR8 Gene

Promoters for PAQR8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PAQR8 on UCSC Golden Path with GeneCards custom track

Genomic Location for PAQR8 Gene

Chromosome:
6
Start:
52,361,421 bp from pter
End:
52,407,777 bp from pter
Size:
46,357 bases
Orientation:
Plus strand

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-MPRB_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
    SequenceCaution:
    • Sequence=AAR08374.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAC05478.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for PAQR8 Gene

Proteomics data for PAQR8 Gene at MOPED

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:

MPRB_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:
Steroid membrane receptor. Binds progesterone. May be involved in oocyte maturation (By similarity).

Gene Ontology (GO) - Molecular Function for PAQR8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003707 steroid hormone receptor activity IBA --
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

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.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PAQR8 Gene COMPARTMENTS Subcellular localization image for PAQR8 gene
Compartment Confidence
plasma membrane 5
mitochondrion 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for PAQR8 Gene

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: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:

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 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



SOURCE GeneReport for Unigene cluster for PAQR8 Gene Hs.239388

mRNA Expression by UniProt/SwissProt for PAQR8 Gene

Q8TEZ7-MPRB_HUMAN
Tissue specificity: Expressed in brain and spinal cord. Also expressed in kidney and testis.
genes like me logo Genes that share expression patterns with PAQR8: view

Protein tissue co-expression partners for PAQR8 Gene

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery 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 35
  • 99.53 (n)
  • 100 (a)
PAQR8 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PAQR8 36
  • 88 (a)
OneToOne
PAQR8 35
  • 85.31 (n)
  • 87.85 (a)
dog
(Canis familiaris)
Mammalia PAQR8 35
  • 88.04 (n)
  • 96.89 (a)
PAQR8 36
  • 60 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Paqr8 16
Paqr8 36
  • 94 (a)
OneToOne
Paqr8 35
  • 86.63 (n)
  • 94.07 (a)
oppossum
(Monodelphis domestica)
Mammalia PAQR8 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PAQR8 36
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Paqr8 35
  • 87.57 (n)
  • 95.48 (a)
chicken
(Gallus gallus)
Aves PAQR8 36
  • 82 (a)
OneToOne
PAQR8 35
  • 76.58 (n)
  • 82.15 (a)
African clawed frog
(Xenopus laevis)
Amphibia mpr-A-prov 35
tropical clawed frog
(Silurana tropicalis)
Amphibia paqr8 35
  • 66.48 (n)
  • 69.03 (a)
zebrafish
(Danio rerio)
Actinopterygii paqr8 36
  • 55 (a)
OneToMany
PAQR8 (1 of 2) 36
  • 55 (a)
OneToMany
mprb 35
paqr8 35
  • 59.77 (n)
  • 56.61 (a)
worm
(Caenorhabditis elegans)
Secernentea K11C4.2 35
  • 40.05 (n)
  • 29.25 (a)
K11C4.2 36
  • 25 (a)
OneToMany
Species with no ortholog for PAQR8:
  • 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 Sequence Context AA Info Type
rs1297 -- 52,407,515(-) ACTTT(C/T)TGTGA utr-variant-3-prime
rs474848 -- 52,407,235(+) ACATC(C/T)TCTCA utr-variant-3-prime
rs548792 -- 52,402,320(-) gtggc(A/G)caatc intron-variant
rs576138 -- 52,401,713(+) ACTGA(C/T)GAGTC intron-variant
rs655113 -- 52,404,353(+) TGACT(A/C/G/T)TTAAG utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
esv21698 CNV Gain 19812545
nsv527443 CNV Loss 19592680

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)

Relevant External Links for PAQR8 Gene

HapMap Linkage Disequilibrium report
PAQR8
Human Gene Mutation Database (HGMD)
PAQR8

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

Disorders for PAQR8 Gene

MalaCards: The human disease database

(3) MalaCards diseases for PAQR8 Gene - From: DISEASES

Disorder Aliases PubMed IDs
epilepsy with generalized tonic-clonic seizures
  • epileptic seizures, tonic-clonic
adolescence-adult electroclinical syndrome
epilepsy, generalized, with febrile seizures plus, type 5
  • epilepsy, idiopathic generalized, 10
- elite association - COSMIC cancer census association via MalaCards
Search PAQR8 in MalaCards View complete list of genes associated with diseases

Relevant External Links for PAQR8

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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. (Biochem. Biophys. Res. Commun. 2001) 2 3 4 23 67
  2. 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. (Proc. Natl. Acad. Sci. U.S.A. 2003) 2 3
  3. Expression of membrane progesterone receptors (mPR/PAQR) in ovarian cancer cells: implications for progesterone-induced signaling events. (PMID: 21761364) Charles N.J. … Lange C.A. (Horm Cancer 2010) 3
  4. Distribution and hormonal regulation of membrane progesterone receptors beta and gamma in ciliated epithelial cells of mouse and human fallopian tubes. (PMID: 19715581) Nutu M. … Larsson D.G. (Reprod. Biol. Endocrinol. 2009) 23
  5. Heterologous expression of human mPRalpha, mPRbeta and mPRgamma in yeast confirms their ability to function as membrane progesterone receptors. (PMID: 18603275) Smith J.L. … Lyons T.J. (Steroids 2008) 3

Products for PAQR8 Gene

Sources for PAQR8 Gene

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