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.

• Radial aplasia-thrombocytopenia syndrome (1 variants)
• not specified (1 variants)
• not provided (1 variants)

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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding		1		2		3
Total	0	1	0	2	0

Highest pathogenic variant AF is 0.00501

Variants in GNRHR2

This is a list of pathogenic ClinVar variants found in the GNRHR2 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
1-145919695-T-C		Radial aplasia-thrombocytopenia syndrome	Likely pathogenic (Sep 16, 2019)
1-145923296-C-C		not specified	Likely benign (Jul 29, 2015)

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
• ghis: 0.471

Essentials

• 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