GPR75

G protein-coupled receptor 75, the group of G protein-coupled receptors, Class A orphans

Basic information

Region (hg38): 2:53852911-53859967

Links

ENSG00000119737 ∙ NCBI:10936 ∙ OMIM:606704 ∙ HGNC:4526 ∙ Uniprot:O95800 ∙ 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 GPR75 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPR75 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	1	5
missense			38		4	42
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			6			6
Total	0	0	44	4	5

Variants in GPR75

This is a list of pathogenic ClinVar variants found in the GPR75 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-53853139-C-T		not specified	Uncertain significance (Dec 08, 2023)
2-53853142-A-G		not specified	Uncertain significance (Jan 10, 2023)
2-53853300-T-C		not specified	Uncertain significance (May 11, 2022)
2-53853322-T-G		not specified	Uncertain significance (Jul 05, 2023)
2-53853324-C-T		not specified	Uncertain significance (Jan 19, 2024)
2-53853330-T-C		not specified	Uncertain significance (Feb 23, 2023)
2-53853352-G-C		not specified	Uncertain significance (Nov 09, 2023)
2-53853358-A-T		not specified	Uncertain significance (Oct 13, 2023)
2-53853387-C-T		not specified	Uncertain significance (Sep 29, 2023)
2-53853403-T-C		not specified	Uncertain significance (Apr 24, 2024)
2-53853435-A-G		not specified	Uncertain significance (Apr 10, 2023)
2-53853466-A-C		not specified	Uncertain significance (Mar 21, 2023)
2-53853492-G-T		not specified	Uncertain significance (Nov 30, 2022)
2-53853534-C-T		not specified	Uncertain significance (Jan 23, 2024)
2-53853543-G-C		not specified	Uncertain significance (Aug 12, 2021)
2-53853558-C-T		not specified	Uncertain significance (Mar 21, 2024)
2-53853663-A-G		not specified	Uncertain significance (Aug 01, 2022)
2-53853664-T-C		not specified	Uncertain significance (Aug 14, 2023)
2-53853713-G-T		GPR75-related disorder	Benign (May 28, 2019)
2-53853756-C-A		not specified	Uncertain significance (Feb 27, 2024)
2-53853756-C-T		not specified	Uncertain significance (Oct 17, 2023)
2-53853780-A-G		not specified	Uncertain significance (Sep 20, 2023)
2-53853845-C-A		not specified	Uncertain significance (May 23, 2024)
2-53853852-C-T		not specified	Uncertain significance (Dec 08, 2023)
2-53853900-C-T		GPR75-related disorder	Benign (Jun 07, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GPR75	protein_coding	protein_coding	ENST00000394705	1	7077

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000158	0.675	125702	0	46	125748	0.000183

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0359	292	290	1.01	0.0000155	3540
Missense in Polyphen		87	113.31	0.76779		1397
Synonymous	-1.62	141	119	1.19	0.00000665	1125
Loss of Function	0.969	9	12.7	0.707	7.80e-7	159

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000420	0.000420
Ashkenazi Jewish	0.00	0.00
East Asian	0.000217	0.000217
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000176	0.000176
Middle Eastern	0.000217	0.000217
South Asian	0.000261	0.000261
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: G protein-coupled receptor that is activated by the chemokine CCL5/RANTES. Probably coupled to heterotrimeric Gq proteins, it stimulates inositol trisphosphate production and calcium mobilization upon activation. Together with CCL5/RANTES, may play a role in neuron survival through activation of a downstream signaling pathway involving the PI3, Akt and MAP kinases. CCL5/RANTES may also regulate insulin secretion by pancreatic islet cells through activation of this receptor. {ECO:0000250|UniProtKB:Q6X632, ECO:0000303|PubMed:23979485}.
• Pathway: GPCRs, Class A Rhodopsin-like (Consensus)

Recessive Scores

• pRec: 0.108

Intolerance Scores

• loftool: 0.686
• rvis_EVS: -0.35
• rvis_percentile_EVS: 29.43

Haploinsufficiency Scores

• pHI: 0.253
• hipred: N
• hipred_score: 0.350
• ghis: 0.539

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.192

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gpr75

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;chemokine-mediated signaling pathway;regulation of neuron death
• Cellular component: integral component of plasma membrane
• Molecular function: G protein-coupled receptor activity;C-C chemokine receptor activity