FFAR4

free fatty acid receptor 4, the group of Free fatty acid receptors

Basic information

Region (hg38): 10:93566664-93604480

Previous symbols: [ "GPR129", "GPR120", "O3FAR1" ]

Links

ENSG00000186188 ∙ NCBI:338557 ∙ OMIM:609044 ∙ HGNC:19061 ∙ Uniprot:Q5NUL3 ∙ 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 FFAR4 gene.

• Inborn genetic diseases (13 variants)
• not provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FFAR4 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				1	1	2
missense			12	1	1	14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	2	2

Variants in FFAR4

This is a list of pathogenic ClinVar variants found in the FFAR4 region.

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

Position	Type	Phenotype	Significance	ClinVar
10-93566737-C-G		not specified	Uncertain significance (Aug 12, 2022)
10-93566826-C-T		not specified	Uncertain significance (Jul 12, 2023)
10-93566834-G-A			Likely benign (Oct 01, 2022)
10-93566895-G-C		not specified	Uncertain significance (Jan 08, 2024)
10-93566914-T-C		not specified	Uncertain significance (Oct 31, 2023)
10-93566937-G-A		not specified	Likely benign (Dec 26, 2023)
10-93566946-T-G			Uncertain significance (-)
10-93566961-C-T		not specified	Uncertain significance (Sep 09, 2021)
10-93566997-C-T		not specified	Uncertain significance (Dec 16, 2023)
10-93567118-G-A		not specified	Uncertain significance (Feb 27, 2024)
10-93567154-G-A		not specified	Uncertain significance (Feb 22, 2023)
10-93567210-G-A		not specified	Uncertain significance (Dec 13, 2021)
10-93576121-A-T		not specified	Likely benign (Jun 06, 2022)
10-93579168-C-T		not specified	Uncertain significance (Nov 17, 2022)
10-93579193-T-C		not specified	Uncertain significance (May 04, 2023)
10-93587266-C-T		not specified	Uncertain significance (Jun 29, 2023)
10-93587279-G-C		not specified	Uncertain significance (Oct 26, 2022)
10-93587284-G-A		Body mass index quantitative trait locus 10	Uncertain significance (May 07, 2024)
10-93587293-A-G			Benign (Dec 01, 2017)
10-93587305-G-A		not specified	Uncertain significance (Feb 05, 2024)
10-93587371-C-T		not specified	Uncertain significance (Apr 18, 2023)
10-93587421-C-T		not specified	Uncertain significance (Mar 01, 2023)
10-93587466-G-A		not specified	Uncertain significance (Aug 17, 2021)
10-93587522-T-A			Benign (Jul 04, 2018)
10-93592093-T-C			Likely benign (May 21, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FFAR4	protein_coding	protein_coding	ENST00000371483	4	37816

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000136	0.642	125721	0	27	125748	0.000107

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.632	189	215	0.879	0.0000107	2390
Missense in Polyphen		45	63.567	0.70792		740
Synonymous	-1.33	115	98.2	1.17	0.00000515	838
Loss of Function	0.909	9	12.5	0.722	5.54e-7	116

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000147	0.000147
Ashkenazi Jewish	0.00	0.00
East Asian	0.000288	0.000272
Finnish	0.00	0.00
European (Non-Finnish)	0.000140	0.000114
Middle Eastern	0.000288	0.000272
South Asian	0.0000983	0.0000980
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Receptor for medium and long-chain free fatty acids (FFAs). Signals via a G(q)/G(11)-coupled pathway. Acts as a receptor for omega-3 fatty acids and mediates robust anti- inflammatory effects, particularly in macrophages and fat cells. The anti-inflammatory effects involve inhibition of TAK1 through a beta-arrestin 2 (ARRB2)/TAB1-dependent effect, but independent of the G(q)/G(11)-coupled pathway. Mediates potent insulin sensitizing and antidiabetic effects by repressing macrophage- induced tissue inflammation. May mediate the taste of fatty acids. Mediates FFA-induced inhibition of apoptosis in enteroendocrine cells. May play a role in the regulation of adipocyte development and differentiation. {ECO:0000269|PubMed:15619630}.
• Pathway: 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: 0.117

Intolerance Scores

• rvis_EVS: -0.27
• rvis_percentile_EVS: 34.6

Haploinsufficiency Scores

• pHI: 0.403
• hipred: N
• hipred_score: 0.367
• ghis: 0.530

Essentials

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

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ffar4
• Phenotype: cellular phenotype; homeostasis/metabolism phenotype; growth/size/body region phenotype; endocrine/exocrine gland phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); taste/olfaction phenotype; liver/biliary system 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)

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;regulation of glucose transmembrane transport;negative regulation of apoptotic process;fat cell differentiation;hormone secretion;negative regulation of cytokine secretion;negative regulation of inflammatory response;detection of chemical stimulus involved in sensory perception of taste;positive regulation of ERK1 and ERK2 cascade;positive regulation of cold-induced thermogenesis
• Cellular component: plasma membrane;integral component of plasma membrane;endocytic vesicle
• Molecular function: G protein-coupled receptor activity;fatty acid binding;taste receptor activity