GPR42

G protein-coupled receptor 42, the group of G protein-coupled receptors, Class A orphans

Basic information

Region (hg38): 19:35371068-35372962

Previous symbols: [ "GPR42P" ]

Links

ENSG00000126251 ∙ NCBI:2866 ∙ OMIM:603822 ∙ HGNC:4500 ∙ Uniprot:O15529 ∙ 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 GPR42 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPR42 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				1		1
missense				1		1
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	2	0

Variants in GPR42

This is a list of pathogenic ClinVar variants found in the GPR42 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-35371380-G-C			Likely benign (Oct 01, 2023)
19-35371512-C-T			Likely benign (Apr 01, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GPR42	protein_coding	protein_coding	ENST00000454971	1	2025

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0509	0.707	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.45	115	168	0.685	0.0000102	2194
Missense in Polyphen		44	65.917	0.6675		938
Synonymous	2.93	47	80.4	0.584	0.00000528	746
Loss of Function	0.677	2	3.33	0.600	1.43e-7	44

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable G protein-coupled receptor that may be activated by a major product of dietary fiber digestion, the short chain fatty acids (SCFAs), and that may play a role in the regulation of whole-body energy homeostasis and/or in intestinal immunity. {ECO:0000269|PubMed:19630535}.
• Pathway: GPCRs, Class A Rhodopsin-like (Consensus)

Recessive Scores

• pRec: 0.0943

Haploinsufficiency Scores

• pHI: 0.0583
• hipred: N
• hipred_score: 0.318
• ghis: 0.394

Essentials

• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway
• Cellular component: integral component of plasma membrane
• Molecular function: G protein-coupled receptor activity