GNRH2 gonadotropin releasing hormone 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GNRH2provided by HGNC
Official Full Name: gonadotropin releasing hormone 2provided by HGNC
Primary source: HGNC:HGNC:4420
See related: Ensembl:ENSG00000125787 MIM:602352; AllianceGenome:HGNC:4420
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: GnRH-II; LH-RHII
Summary: This gene is a member of the gonadotropin-releasing hormone (GnRH) gene family. Proteins encoded by members of this gene family are proteolytically cleaved to form neuropeptides which, in part, regulate reproductive functions by stimulating the production and release of the gonadotropins follicle-stimulating hormone (FSH) and luteinizing hormone (LH). The human GNRH2 gene is predicted to encode a preproprotein from which a mature neuropeptide of 10 amino acids is cleaved. However, while the human genome retains the sequence for a functional GNRH2 decapeptide, translation of the human GNRH2 gene has not yet been demonstrated and the GNRH2 gene of chimpanzees, gorilla, and Sumatran orangutan have a premature stop at codon eight of the decapeptide sequence which suggests GNRH2 was a pseudogene in the hominid lineage. The GNRH2 gene is also believed to be a pseudogene in many other mammalian species such as mouse and cow. The receptor for this gene (GNRHR2) is predicted to be a pseudogene in human as well as many other mammalian species. The closely related GNRH1 and GNRHR1 genes are functional in human and other mammals and are generally functional in vertebrates. [provided by RefSeq, Mar 2019]
Annotation information: Note: It is uncertain if this is a protein-coding gene or if it is a transcribed pseudogene in humans. [19 Mar 2019]
Expression: Low expression observed in reference dataset See more
Orthologs: all
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Genomic context

Location:: 20p13

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (3043622..3045747)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (3069822..3076493)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (3024268..3026393)

Chromosome 20 - NC_000020.11 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: 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?

Role of gonadotropin-releasing hormone 2 and its receptor in human reproductive cancers.
Title: Role of gonadotropin-releasing hormone 2 and its receptor in human reproductive cancers.
EGF-Enhanced GnRH-II Regulation in Decidual Stromal Cell Motility through Twist and N-Cadherin Signaling.
Title: EGF-Enhanced GnRH-II Regulation in Decidual Stromal Cell Motility through Twist and N-Cadherin Signaling.
Copper(II) Binding by the Earliest Vertebrate Gonadotropin-Releasing Hormone, the Type II Isoform, Suggests an Ancient Role for the Metal.
Title: Copper(II) Binding by the Earliest Vertebrate Gonadotropin-Releasing Hormone, the Type II Isoform, Suggests an Ancient Role for the Metal.
The effects of common variants in MDM2 and GNRH2 genes on the risk and survival of osteosarcoma in Han populations from Northwest China.
Title: The effects of common variants in MDM2 and GNRH2 genes on the risk and survival of osteosarcoma in Han populations from Northwest China.
rs6051545 (GNRH2) genetic variation may result in inadequate suppression of serum testosterone during androgen deprivation therapy. This may lead to detrimental effects of androgen deprivation therapy on prognosis in men with metastatic prostate cancer.
Title: The Association of Polymorphisms in the Gene Encoding Gonadotropin-Releasing Hormone with Serum Testosterone Level during Androgen Deprivation Therapy and Prognosis of Metastatic Prostate Cancer.
GnRHII expression correlated significantly with poor prognosis in breast cancer patients.
Title: Gonadotropin-releasing hormone neuropeptides and receptor in human breast cancer: correlation to poor prognosis parameters.
results suggest GnRH-II-induced laminin receptor precursor expression increases 67-kDa nonintegrin laminin receptor, which appears to interact with laminin in the extracellular matrix to promote MMP-2 expression and enhance ovarian cancer cell invasion
Title: 37-kDa laminin receptor precursor mediates GnRH-II-induced MMP-2 expression and invasiveness in ovarian cancer cells.
concluded that GnRHII stimulates PI3K/Akt pathway, and the phosphorylation of glycogen synthase kinase3beta, thereby enhancing the beta-catenin-dependent up-regulation of MT1-MMP production which contributes to ovarian cancer metastasis
Title: Gonadotropin-releasing hormone-II increases membrane type I metalloproteinase production via beta-catenin signaling in ovarian cancer cells.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
These preliminary data suggest that local GnRH-II may participate in the regulation of ovarian tumor growth in post-menopausal women.
Title: GnRH-II mRNA expression in tumor tissue and peripheral blood mononuclear cells (PBMCs) in patients with malignant and benign ovarian tumors.

Submit: New GeneRIF Correction See all GeneRIFs (28)

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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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables gonadotropin hormone-releasing hormone activity	IBA Inferred from Biological aspect of Ancestor more info
enables gonadotropin-releasing hormone receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables hormone activity	TAS Traceable Author Statement more info	PubMed

Process	Evidence Code	Pubs
involved_in reproductive process	IBA Inferred from Biological aspect of Ancestor more info
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
located_in extracellular region	TAS Traceable Author Statement more info
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: progonadoliberin-2

Names: GnRH-associated peptide 2; GnRH-associated peptide II; Gonadoliberin II; Gonadoliberin-2; luliberin II; luteinizing hormone-releasing hormone II; progonadoliberin II

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.

mRNA and Protein(s)

NM_001310220.2 → NP_001297149.1 progonadoliberin-2 isoform a preproprotein

See identical proteins and their annotated locations for NP_001297149.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) differs in the 5' UTR compared to variant 1. Variants 1 and 4 encode the same isoform (a).

Source sequence(s)

AF036330, AL121905, BC115400

Consensus CDS

CCDS13040.1

UniProtKB/Swiss-Prot

O43555, Q14C68, Q14C69, Q9BYN9, Q9BYP0
NM_001501.2 → NP_001492.1 progonadoliberin-2 isoform a preproprotein

See identical proteins and their annotated locations for NP_001492.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a). Variants 1 and 4 encode the same isoform (a).

Source sequence(s)

AF036330, AL121905, BC069362

Consensus CDS

CCDS13040.1

UniProtKB/Swiss-Prot

O43555, Q14C68, Q14C69, Q9BYN9, Q9BYP0

Related

ENSP00000245983.2, ENST00000245983.6
NM_178331.2 → NP_847901.1 progonadoliberin-2 isoform c preproprotein

See identical proteins and their annotated locations for NP_847901.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) uses an alternate in-frame splice site compared to variant 1, resulting in a shorter isoform (c) compared to isoform a.

Source sequence(s)

AF036330, AL121905, BC115399

Consensus CDS

CCDS13041.1

UniProtKB/Swiss-Prot

O43555

Related

ENSP00000352003.2, ENST00000359100.6
NM_178332.2 → NP_847902.1 progonadoliberin-2 isoform b preproprotein

See identical proteins and their annotated locations for NP_847902.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice site compared to variant 1, resulting in a shorter isoform (b) compared to isoform a.

Source sequence(s)

AF036330, AL121905, BF061974

Consensus CDS

CCDS13042.1

UniProtKB/Swiss-Prot

O43555

Related

ENSP00000369704.2, ENST00000380346.2