GPR174

G protein-coupled receptor 174, the group of G protein-coupled receptors, Class A orphans

Basic information

Region (hg38): X:79144688-79175318

Links

ENSG00000147138 ∙ NCBI:84636 ∙ OMIM:300903 ∙ HGNC:30245 ∙ Uniprot:Q9BXC1 ∙ 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 GPR174 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPR174 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				4	2	6
missense			12	2	1	15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					2	2
Total	0	0	12	6	5

Variants in GPR174

This is a list of pathogenic ClinVar variants found in the GPR174 region.

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

Position	Type	Phenotype	Significance	ClinVar
X-79170974-C-T			Benign (Nov 01, 2021)
X-79170991-T-C			Benign (Nov 01, 2021)
X-79171081-C-T		not specified	Uncertain significance (Nov 12, 2021)
X-79171121-A-G		not specified	Uncertain significance (Feb 03, 2022)
X-79171155-G-A		not specified	Uncertain significance (Apr 05, 2023)
X-79171184-A-G		not specified	Uncertain significance (Oct 06, 2024)
X-79171229-G-A		GPR174-related disorder	Likely benign (May 15, 2019)
X-79171270-C-A		GPR174-related disorder	Likely benign (Oct 11, 2023)
X-79171283-G-A		not specified	Uncertain significance (Dec 10, 2024)
X-79171348-T-C		not specified	Uncertain significance (Oct 06, 2024)
X-79171381-G-A			Likely benign (Jan 01, 2023)
X-79171396-A-G		not specified	Uncertain significance (Jun 17, 2024)
X-79171404-T-C		not specified	Uncertain significance (Sep 27, 2024)
X-79171430-C-T		GPR174-related disorder	Likely benign (Jun 15, 2018)
X-79171480-G-C		not specified	Uncertain significance (Dec 16, 2022)
X-79171490-C-T		GPR174-related disorder	Benign (May 24, 2018)
X-79171491-T-C		GPR174-related disorder	Benign (Oct 21, 2019)
X-79171553-C-T		GPR174-related disorder	Likely benign (Jun 22, 2021)
X-79171560-A-G		not specified	Uncertain significance (Aug 04, 2023)
X-79171567-C-G		not specified	Uncertain significance (Jul 19, 2022)
X-79171613-A-G		GPR174-related disorder	Benign (Jul 03, 2019)
X-79171630-C-T		not specified	Uncertain significance (Jun 11, 2024)
X-79171636-T-C		not specified	Uncertain significance (Dec 03, 2021)
X-79171682-A-G			Likely benign (Jun 01, 2022)
X-79171713-G-T		not specified	Uncertain significance (Nov 18, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GPR174	protein_coding	protein_coding	ENST00000276077	1	1258

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.398	0.594	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.653	102	122	0.834	0.00000869	2186
Missense in Polyphen		22	47.471	0.46344		899
Synonymous	-0.292	50	47.4	1.05	0.00000340	660
Loss of Function	2.22	2	9.30	0.215	9.52e-7	122

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: Putative receptor for purines coupled to G-proteins. {ECO:0000250}.
• Pathway: GPCRs, Class A Rhodopsin-like (Consensus)

Intolerance Scores

• rvis_EVS: 0.37
• rvis_percentile_EVS: 75.12

Haploinsufficiency Scores

• pHI: 0.140
• hipred: Y
• hipred_score: 0.598
• ghis: 0.445

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• 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

Mouse Genome Informatics

• Gene name: Gpr174
• Phenotype: immune system phenotype; hematopoietic system phenotype

Gene ontology

• Biological process: positive regulation of Rho protein signal transduction;T cell homeostasis;positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway
• Cellular component: integral component of plasma membrane
• Molecular function: G protein-coupled receptor activity;bioactive lipid receptor activity