PAQR8 progestin and adipoQ receptor family member 8 [Homo sapiens (human)] - Gene

Summary

Official Symbol: PAQR8provided by HGNC
Official Full Name: progestin and adipoQ receptor family member 8provided by HGNC
Primary source: HGNC:HGNC:15708
See related: Ensembl:ENSG00000170915 MIM:607780; AllianceGenome:HGNC:15708
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MPRB; LMPB1; C6orf33
Summary: Predicted to enable nuclear steroid receptor activity and steroid binding activity. Predicted to be involved in response to steroid hormone. Located in Golgi apparatus and plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Broad expression in brain (RPKM 26.8), colon (RPKM 23.1) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p12.2

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (52362151..52407777)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (52200912..52246549)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (52226949..52272575)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Data show abundant mPRalpha (PAQR7), mPRbeta (PAQR8), and mPRgamma (PAQR5), but not classical nuclear PR (A or B isoforms) mRNA expression and mPRalpha protein expression in a panel of commonly used ovarian cancer cell lines.
Title: Expression of membrane progesterone receptors (mPR/PAQR) in ovarian cancer cells: implications for progesterone-induced signaling events.
Heterologous expression of MPRB in yeast confirms its ability to function as a membrane progesterone receptor.
Title: Heterologous expression of human mPRalpha, mPRbeta and mPRgamma in yeast confirms their ability to function as membrane progesterone receptors.
LMPB1 is indeed an integral membrane protein that targets to lysosomal structures.
Title: A novel gene in the chromosomal region for juvenile myoclonic epilepsy on 6p12 encodes a brain-specific lysosomal membrane protein.

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Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-141786 (e-PCR)
- UniSTS:184330

G19819 (e-PCR)
- UniSTS:23400

A001Z23 (e-PCR)
- UniSTS:23401

WIAF-2212 (e-PCR)
- UniSTS:11406

STS-Z41287 (e-PCR)
- UniSTS:32661

WI-20795 (e-PCR)
- UniSTS:31178

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables nuclear steroid receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables steroid binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in oogenesis	IEA Inferred from Electronic Annotation more info
involved_in response to steroid hormone	IBA Inferred from Biological aspect of Ancestor more info
involved_in steroid hormone receptor signaling pathway	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Golgi apparatus	IDA Inferred from Direct Assay more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info

General protein information

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Preferred Names: membrane progestin receptor beta

Names: lysosomal membrane protein in brain-1; mPR beta; membrane progesterone P4 receptor beta; membrane progesterone receptor beta; progesterone and adipoQ receptor family member 8; progestin and adipoQ receptor family member VIII

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.