GPR35

G protein-coupled receptor 35, the group of G protein-coupled receptors, Class A orphans

Basic information

Region (hg38): 2:240605430-240633159

Links

ENSG00000178623 ∙ NCBI:2859 ∙ OMIM:602646 ∙ HGNC:4492 ∙ Uniprot:Q9HC97 ∙ 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 GPR35 gene.

• not_specified (58 variants)
• not_provided (18 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the GPR35 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000005301.5. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				7	4	11
missense			52	8	5	65
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	52	15	9

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
GPR35	protein_coding	protein_coding	ENST00000438013	2	25829

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00493	0.710	125305	1	276	125582	0.00110

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.205	213	222	0.961	0.0000151	2147
Missense in Polyphen		51	63.914	0.79795		673
Synonymous	-0.397	113	108	1.05	0.00000775	771
Loss of Function	0.725	4	5.90	0.678	3.36e-7	58

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00275	0.00275
Ashkenazi Jewish	0.000897	0.000895
East Asian	0.00	0.00
Finnish	0.000173	0.000139
European (Non-Finnish)	0.00144	0.00144
Middle Eastern	0.00	0.00
South Asian	0.0000653	0.0000653
Other	0.000981	0.000978

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts as a receptor for kynurenic acid, an intermediate in the tryptophan metabolic pathway. The activity of this receptor is mediated by G-proteins that elicit calcium mobilization and inositol phosphate production through G(qi/o) proteins. {ECO:0000269|PubMed:16754668}.
• Pathway: Neuroactive ligand-receptor interaction - Homo sapiens (human);GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding (Consensus)

Recessive Scores

• pRec: 0.111

Intolerance Scores

• loftool: 0.550
• rvis_EVS: 1.47
• rvis_percentile_EVS: 95.26

Haploinsufficiency Scores

• pHI: 0.106
• hipred: N
• hipred_score: 0.180

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.266

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Gpr35

Gene ontology

• Biological process: cytoskeleton organization;G protein-coupled receptor signaling pathway;positive regulation of cytosolic calcium ion concentration;positive regulation of Rho protein signal transduction;positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G protein-coupled signaling pathway;chemokine-mediated signaling pathway;negative regulation of voltage-gated calcium channel activity;negative regulation of neuronal action potential
• Cellular component: plasma membrane;integral component of plasma membrane
• Molecular function: G protein-coupled receptor activity;C-X-C chemokine receptor activity