FFAR3

free fatty acid receptor 3, the group of Free fatty acid receptors

Basic information

Region (hg38): 19:35358460-35360489

Previous symbols: [ "GPR41" ]

Links

ENSG00000185897 ∙ NCBI:2865 ∙ OMIM:603821 ∙ HGNC:4499 ∙ Uniprot:O14843 ∙ 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 FFAR3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FFAR3 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				3		3
missense			34	3	2	39
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	34	6	2

Variants in FFAR3

This is a list of pathogenic ClinVar variants found in the FFAR3 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-35358894-G-A		not specified	Uncertain significance (Feb 02, 2022)
19-35358924-G-C		not specified	Uncertain significance (Jun 29, 2023)
19-35358930-C-T		not specified	Uncertain significance (Jul 12, 2023)
19-35359015-A-G		not specified	Uncertain significance (Nov 12, 2024)
19-35359024-G-A			Benign (Jun 22, 2017)
19-35359035-G-A		not specified	Uncertain significance (Mar 08, 2025)
19-35359063-C-A		not specified	Uncertain significance (Oct 05, 2023)
19-35359065-G-A		not specified	Uncertain significance (Nov 18, 2022)
19-35359071-G-A		not specified	Uncertain significance (Jan 08, 2025)
19-35359104-A-G		not specified	Uncertain significance (Nov 28, 2023)
19-35359105-T-C		not specified	Uncertain significance (Apr 26, 2024)
19-35359110-G-A		not specified	Uncertain significance (Jan 23, 2024)
19-35359125-A-G		not specified	Uncertain significance (Apr 25, 2023)
19-35359127-G-A		not specified	Uncertain significance (Dec 20, 2022)
19-35359141-C-T		not specified	Uncertain significance (Oct 26, 2022)
19-35359144-T-A		not specified	Uncertain significance (Nov 25, 2024)
19-35359197-G-A		not specified	Uncertain significance (Sep 07, 2022)
19-35359227-C-T		not specified	Uncertain significance (Dec 31, 2023)
19-35359237-G-A		not specified	Uncertain significance (Nov 14, 2024)
19-35359335-G-A		not specified	Uncertain significance (Jul 19, 2022)
19-35359344-G-A		not specified	Likely benign (Oct 18, 2021)
19-35359386-A-C		not specified	Uncertain significance (Mar 20, 2023)
19-35359411-G-A		not specified	Likely benign (Apr 08, 2024)
19-35359429-T-A		not specified	Uncertain significance (Jan 02, 2024)
19-35359440-G-A		not specified	Uncertain significance (Dec 13, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FFAR3	protein_coding	protein_coding	ENST00000327809	1	2026

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000238	0.326	125708	0	22	125730	0.0000875

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0305	195	196	0.994	0.0000121	2142
Missense in Polyphen		54	53.315	1.0129		621
Synonymous	0.444	86	91.4	0.941	0.00000600	715
Loss of Function	-0.321	5	4.28	1.17	1.84e-7	43

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000246	0.000244
Ashkenazi Jewish	0.000101	0.0000992
East Asian	0.000438	0.000435
Finnish	0.00	0.00
European (Non-Finnish)	0.0000378	0.0000352
Middle Eastern	0.000438	0.000435
South Asian	0.0000660	0.0000653
Other	0.000332	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: G protein-coupled receptor that is activated by a major product of dietary fiber digestion, the short chain fatty acids (SCFAs), and that plays a role in the regulation of whole-body energy homeostasis and in intestinal immunity. In omnivorous mammals, the short chain fatty acids acetate, propionate and butyrate are produced primarily by the gut microbiome that metabolizes dietary fibers. SCFAs serve as a source of energy but also act as signaling molecules. That G protein-coupled receptor is probably coupled to the pertussis toxin-sensitive, G(i/o)-alpha family of G proteins. Its activation results in the formation of inositol 1,4,5-trisphosphate, the mobilization of intracellular calcium, the phosphorylation of the MAPK3/ERK1 and MAPK1/ERK2 kinases and the inhibition of intracellular cAMP accumulation (PubMed:12711604). Activated by SCFAs and by beta-hydroxybutyrate, a ketone body produced by the liver upon starvation, it inhibits N-type calcium channels and modulates the activity of sympathetic neurons through a signaling cascade involving the beta and gamma subunits of its coupled G protein, phospholipase C and MAP kinases. Thereby, it may regulate energy expenditure through the control of the sympathetic nervous system that controls for instance heart rate. Upon activation by SCFAs accumulating in the intestine, it may also signal to the brain via neural circuits which in turn would regulate intestinal gluconeogenesis. May also control the production of hormones involved in whole-body energy homeostasis. May for instance, regulate blood pressure through renin secretion. May also regulate secretion of the PYY peptide by enteroendocrine cells and control gut motility, intestinal transit rate, and the harvesting of energy from SCFAs produced by gut microbiota. May also indirectly regulate the production of LEP/Leptin, a hormone acting on the CNS to inhibit food intake, in response to the presence of short-chain fatty acids in the intestine. Finally, may also play a role in glucose homeostasis. Besides its role in energy homeostasis, may play a role in intestinal immunity. May mediate the activation of the inflammatory and immune response by SCFAs in the gut, regulating the rapid production of chemokines and cytokines by intestinal epithelial cells. Among SCFAs, the fatty acids containing less than 6 carbons, the most potent activators are probably propionate, butyrate and pentanoate while acetate is a poor activator (PubMed:12496283, PubMed:12711604). {ECO:0000269|PubMed:12496283, ECO:0000269|PubMed:12711604, ECO:0000269|PubMed:18801738, ECO:0000269|PubMed:23066016}.
• Pathway: SCFA and skeletal muscle substrate metabolism;GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;Free fatty acid receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;G alpha (q) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.100

Intolerance Scores

• loftool: 0.660
• rvis_EVS: 0.15
• rvis_percentile_EVS: 64.74

Haploinsufficiency Scores

• pHI: 0.105
• ghis: 0.434

Essentials

• essential_gene_CRISPR: 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: Ffar3
• Phenotype: nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); digestive/alimentary phenotype; growth/size/body region 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); homeostasis/metabolism phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); endocrine/exocrine gland phenotype

Gene ontology

• Biological process: mucosal immune response;positive regulation of cytokine production involved in immune response;positive regulation of acute inflammatory response to non-antigenic stimulus;inflammatory response;G protein-coupled receptor signaling pathway;adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway;regulation of norepinephrine secretion;positive regulation of chemokine production;negative regulation of blood pressure;regulation of insulin receptor signaling pathway;regulation of hormone biosynthetic process;cellular response to fatty acid;regulation of peptide hormone secretion
• Cellular component: plasma membrane;integral component of plasma membrane
• Molecular function: G protein-coupled receptor activity;lipid binding