GPHB5

glycoprotein hormone subunit beta 5, the group of Glycoprotein hormone subunits

Basic information

Region (hg38): 14:63312835-63318935

Links

ENSG00000179600

∙ NCBI:122876 ∙ OMIM:609652 ∙ HGNC:18055 ∙ Uniprot:Q86YW7 ∙ 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 GPHB5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPHB5 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						0
Total	0	0	0	0	0

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Function: FUNCTION: Functions as a heterodimeric glycoprotein hormone with GPHA2 able to bind and activate the thyroid-stimulating hormone receptor (TSHR), leading to increased cAMP production. Plays a central role in controlling thyroid cell metabolism. {ECO:0000269|PubMed:12045258, ECO:0000269|PubMed:16210345}.;
Pathway: Signaling by GPCR;Signal Transduction;G alpha (s) signalling events;Hormone ligand-binding receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;GPCR downstream signalling (Consensus)

Recessive Scores

pRec: 0.0854

Haploinsufficiency Scores

pHI: 0.229
hipred
hipred_score
ghis

Mouse Genome Informatics

Gene name: Gphb5
Phenotype: normal phenotype;

Gene ontology

Biological process: regulation of thyroid hormone mediated signaling pathway;G protein-coupled receptor signaling pathway;adenylate cyclase-activating G protein-coupled receptor signaling pathway;hormone-mediated signaling pathway;regulation of signaling receptor activity
Cellular component: extracellular region;extracellular space;cytoplasm
Molecular function: hormone activity;protein binding;thyrotropin-releasing hormone receptor binding;protein heterodimerization activity