GPR65

G protein-coupled receptor 65, the group of G protein-coupled receptors, Class A orphans

Basic information

Region (hg38): 14:88005134-88014811

Links

ENSG00000140030 ∙ NCBI:8477 ∙ OMIM:604620 ∙ HGNC:4517 ∙ Uniprot:Q8IYL9 ∙ 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 GPR65 gene.

• Inborn genetic diseases (8 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPR65 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			7	1		8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	1	0

Variants in GPR65

This is a list of pathogenic ClinVar variants found in the GPR65 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-88010934-T-G		not specified	Uncertain significance (May 26, 2022)
14-88010963-C-T		not specified	Uncertain significance (Oct 27, 2022)
14-88011172-G-A		not specified	Uncertain significance (Oct 03, 2022)
14-88011251-G-A		not specified	Uncertain significance (Mar 29, 2023)
14-88011313-G-A		not specified	Uncertain significance (Nov 16, 2021)
14-88011343-A-T		not specified	Uncertain significance (Sep 06, 2022)
14-88011427-A-G		not specified	Likely benign (Jun 28, 2022)
14-88011491-C-T		not specified	Uncertain significance (Jan 25, 2024)
14-88011647-G-A		not specified	Likely benign (Feb 28, 2024)
14-88011749-T-C		not specified	Uncertain significance (Oct 29, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GPR65	protein_coding	protein_coding	ENST00000267549	1	6952

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.111	0.863	125704	0	18	125722	0.0000716

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.704	151	177	0.851	0.00000928	2222
Missense in Polyphen		50	64.869	0.77078		856
Synonymous	0.503	63	68.3	0.923	0.00000369	635
Loss of Function	1.92	3	9.31	0.322	4.84e-7	135

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000424	0.000362
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000441	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.000163	0.000163
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for the glycosphingolipid psychosine (PSY) and several related glycosphingolipids (PubMed:11309421). Plays a role in immune response by maintaining lysosome function and supporting phagocytosis-mediated intracellular bacteria clearance (PubMed:27287411). May have a role in activation-induced cell death or differentiation of T-cells (By similarity). {ECO:0000250|UniProtKB:Q61038, ECO:0000269|PubMed:11309421, ECO:0000269|PubMed:27287411}.
• Pathway: GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (q) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.104

Intolerance Scores

• loftool: 0.511
• rvis_EVS: -0.05
• rvis_percentile_EVS: 49.76

Haploinsufficiency Scores

• pHI: 0.174
• hipred: N
• hipred_score: 0.218
• ghis: 0.559

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.00562

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gpr65
• Phenotype: integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); immune system phenotype; reproductive system phenotype; hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); skeleton phenotype

Zebrafish Information Network

• Gene name: gpr65
• Affected structure: hemopoiesis
• Phenotype tag: abnormal
• Phenotype quality: increased occurrence

Gene ontology

• Biological process: apoptotic process;immune response;G protein-coupled receptor signaling pathway;adenylate cyclase-activating G protein-coupled receptor signaling pathway;multicellular organism development;response to acidic pH;actin cytoskeleton reorganization;positive regulation of Rho protein signal transduction;positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway;positive regulation of stress fiber assembly;activation of GTPase activity
• Cellular component: plasma membrane;integral component of plasma membrane
• Molecular function: G protein-coupled receptor activity