GNRHR gonadotropin releasing hormone receptor [Homo sapiens (human)] - Gene

Summary

Official Symbol: GNRHRprovided by HGNC
Official Full Name: gonadotropin releasing hormone receptorprovided by HGNC
Primary source: HGNC:HGNC:4421
See related: Ensembl:ENSG00000109163 MIM:138850; AllianceGenome:HGNC:4421
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HH7; GRHR; LRHR; LHRHR; GNRHR1
Summary: This gene encodes the receptor for type 1 gonadotropin-releasing hormone. This receptor is a member of the seven-transmembrane, G-protein coupled receptor (GPCR) family. It is expressed on the surface of pituitary gonadotrope cells as well as lymphocytes, breast, ovary, and prostate. Following binding of gonadotropin-releasing hormone, the receptor associates with G-proteins that activate a phosphatidylinositol-calcium second messenger system. Activation of the receptor ultimately causes the release of gonadotropic luteinizing hormone (LH) and follicle stimulating hormone (FSH). Defects in this gene are a cause of hypogonadotropic hypogonadism (HH). Alternative splicing results in multiple transcript variants encoding different isoforms. More than 18 transcription initiation sites in the 5' region and multiple polyA signals in the 3' region have been identified for this gene. [provided by RefSeq, Jul 2008]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 4q13.2

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (67737118..67754388, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (71180228..71197499, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (68602836..68620106, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

AXL receptor tyrosine kinase modulates gonadotropin-releasing hormone receptor signaling.
Title: AXL receptor tyrosine kinase modulates gonadotropin-releasing hormone receptor signaling.
GnRH receptor mediates lipid storage in female adipocytes via AMPK pathway.
Title: GnRH receptor mediates lipid storage in female adipocytes via AMPK pathway.
Immunohistochemical Expression of LHRH Receptor in Different Compartments of Female Genital Tract in Patients With Endometrial Cancer.
Title: Immunohistochemical Expression of LHRH Receptor in Different Compartments of Female Genital Tract in Patients With Endometrial Cancer.
Gonadotropin-releasing hormone receptor inhibits triple-negative breast cancer proliferation and metastasis.
Title: Gonadotropin-releasing hormone receptor inhibits triple-negative breast cancer proliferation and metastasis.
Genetics of hypogonadotropic Hypogonadism-Human and mouse genes, inheritance, oligogenicity, and genetic counseling.
Title: Genetics of hypogonadotropic Hypogonadism-Human and mouse genes, inheritance, oligogenicity, and genetic counseling.
[Clinical and molecular genetic features of cases of isolated hypogonadotropic hypogonadism, associated with defects in GNRHR genes].
Title: [Clinical and molecular genetic features of cases of isolated hypogonadotropic hypogonadism, associated with defects in GNRHR genes].
Increased testosterone and proinflammatory cytokines in patients with polycystic ovary syndrome correlate with elevated GnRH receptor autoantibody activity assessed by a fluorescence resonance energy transfer-based bioassay.
Title: Increased testosterone and proinflammatory cytokines in patients with polycystic ovary syndrome correlate with elevated GnRH receptor autoantibody activity assessed by a fluorescence resonance energy transfer-based bioassay.
Association between GnRH Receptor Polymorphisms and Luteinizing Hormone Levels for Low Ovarian Reserve Infertile Women.
Title: Association between GnRH Receptor Polymorphisms and Luteinizing Hormone Levels for Low Ovarian Reserve Infertile Women.
Expression of Luteinizing Hormone-Releasing Hormone (LHRH) and Type-I LHRH Receptor in Transitional Cell Carcinoma Type of Human Bladder Cancer.
Title: Expression of Luteinizing Hormone-Releasing Hormone (LHRH) and Type-I LHRH Receptor in Transitional Cell Carcinoma Type of Human Bladder Cancer.
Cancer stem cell and mesenchymal cell cooperative actions in metastasis progression and hormone resistance in prostate cancer: Potential role of androgen and gonadotropinreleasing hormone receptors (Review).
Title: Cancer stem cell and mesenchymal cell cooperative actions in metastasis progression and hormone resistance in prostate cancer: Potential role of androgen and gonadotropin‑releasing hormone receptors (Review).

Submit: New GeneRIF Correction See all GeneRIFs (119)

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

Associated conditions

Description	Tests
Hypogonadotropic hypogonadism 7 with or without anosmia MedGen: C0342384 OMIM: 146110 GeneReviews: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency	not available

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-59524 (e-PCR)
- UniSTS:54546

SHGC-60090 (e-PCR)
- UniSTS:29210

GDB:437520 (e-PCR)
- UniSTS:157244

D4S3174 (e-PCR)
- UniSTS:46664

WI-16095 (e-PCR)
- UniSTS:27490

GNRHR (e-PCR), detects polymorphism
- UniSTS:264041

NoName (e-PCR)
- UniSTS:483195

GNRHR (e-PCR), detects polymorphism
- UniSTS:503471

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables gonadotropin-releasing hormone receptor activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to gonadotropin-releasing hormone	IEA Inferred from Electronic Annotation more info
involved_in cellular response to hormone stimulus	IBA Inferred from Biological aspect of Ancestor more info
involved_in gonadotropin secretion	NAS Non-traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in membrane	TAS Traceable Author Statement more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info	PubMed

General protein information

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Preferred Names: gonadotropin-releasing hormone receptor

Names: gnRH receptor; gnRH-R; gonadotropin-releasing hormone (type 1) receptor 1; leutinizing hormone releasing horomone receptor; leutinizing-releasing hormone receptor; luliberin receptor; type I GnRH receptor

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.

Genomic

NG_009293.1 RefSeqGene

Range

6699..23969

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000406.3 → NP_000397.1 gonadotropin-releasing hormone receptor isoform 1

See identical proteins and their annotated locations for NP_000397.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AC079880

Consensus CDS

CCDS3517.1

UniProtKB/Swiss-Prot

O75793, P30968, Q14D13, Q92644

Related

ENSP00000226413.5, ENST00000226413.5

Conserved Domains (2) summary

cd14964
Location:38 → 67

7tm_GPCRs; TM helix 1 [structural motif]

cl28897
Location:36 → 328

7tm_GPCRs; seven-transmembrane G protein-coupled receptor superfamily
NM_001012763.2 → NP_001012781.1 gonadotropin-releasing hormone receptor isoform 2

See identical proteins and their annotated locations for NP_001012781.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate splice site in the coding region, compared to variant 1, that results in a frameshift. It encodes isoform 2 which has a shorter and distinct C-terminus compared to isoform 1. Isoform 2 may act as an inhibitor of gonadotropin-releasing hormone receptor signaling.

Source sequence(s)

AC079880

Consensus CDS

CCDS47064.1

UniProtKB/Swiss-Prot

P30968

Related

ENSP00000397561.2, ENST00000420975.2

Conserved Domains (1) summary

pfam00001
Location:76 → 175

7tm_1; 7 transmembrane receptor (rhodopsin family)