GNRHR2

gonadotropin releasing hormone receptor 2 (pseudogene), the group of Gonadotropin releasing hormone receptors

Basic information

Region (hg38): 1:145919344-145925233

Links

ENSG00000211451

∙ NCBI:114814 ∙ OMIM:612875 ∙ HGNC:16341 ∙ Uniprot:Q96P88 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the GNRHR2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GNRHR2 gene is commonly pathogenic or not. These statistics are base on transcript: . Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	0	0	0

Loading clinvar variants...

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: Putative receptor for gonadotropin releasing hormone II (GnRH II) which is most probably non-functional. {ECO:0000269|PubMed:12538601, ECO:0000269|PubMed:19657181}.;
Pathway: Signaling by GPCR;Signal Transduction;Hormone ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (q) signalling events;GPCR downstream signalling (Consensus)

Haploinsufficiency Scores

pHI: 0.0344
hipred
hipred_score
ghis: 0.471

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
essential_gene_gene_trap
gene_indispensability_pred: N
gene_indispensability_score: 0.0247

Gene ontology

Biological process: G protein-coupled receptor signaling pathway;cellular response to hormone stimulus;cellular response to gonadotropin-releasing hormone
Cellular component: plasma membrane;integral component of plasma membrane
Molecular function: gonadotropin-releasing hormone receptor activity