FFAR1

free fatty acid receptor 1, the group of Free fatty acid receptors

Basic information

Region (hg38): 19:35347901-35353864

Previous symbols: [ "GPR40" ]

Links

ENSG00000126266 ∙ NCBI:2864 ∙ OMIM:603820 ∙ HGNC:4498 ∙ Uniprot:O14842 ∙ 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 FFAR1 gene.

• Inborn genetic diseases (14 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FFAR1 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			14			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	14	0	0

Variants in FFAR1

This is a list of pathogenic ClinVar variants found in the FFAR1 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-35351582-C-G		not specified	Uncertain significance (Aug 17, 2021)
19-35351654-C-T		not specified	Uncertain significance (Jan 31, 2023)
19-35351759-G-A		not specified	Uncertain significance (Nov 17, 2022)
19-35351781-C-T		not specified	Uncertain significance (Dec 06, 2021)
19-35351841-T-C		not specified	Uncertain significance (Feb 28, 2024)
19-35351927-G-A		not specified	Uncertain significance (Feb 03, 2022)
19-35351934-C-A		not specified	Uncertain significance (Dec 06, 2023)
19-35352054-C-T		not specified	Uncertain significance (Dec 12, 2023)
19-35352090-G-A		not specified	Uncertain significance (Aug 10, 2021)
19-35352099-G-A		not specified	Uncertain significance (Jul 12, 2023)
19-35352170-C-T		not specified	Uncertain significance (Jul 15, 2021)
19-35352171-G-C		not specified	Uncertain significance (Feb 17, 2023)
19-35352204-G-A		not specified	Uncertain significance (May 17, 2023)
19-35352224-G-A		not specified	Uncertain significance (Dec 22, 2023)
19-35352288-C-T		not specified	Uncertain significance (Nov 09, 2022)
19-35352329-C-G		not specified	Uncertain significance (Aug 09, 2021)
19-35352362-C-T		not specified	Uncertain significance (Feb 28, 2024)
19-35352399-C-T		not specified	Uncertain significance (May 11, 2022)
19-35352432-A-G		not specified	Uncertain significance (Apr 19, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FFAR1	protein_coding	protein_coding	ENST00000246553	1	923

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000757	0.547	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.612	166	190	0.875	0.0000139	1797
Missense in Polyphen		64	69.172	0.92523		674
Synonymous	0.209	97	99.7	0.973	0.00000786	715
Loss of Function	0.376	5	5.99	0.834	3.47e-7	52

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: G-protein coupled receptor for medium and long chain saturated and unsaturated fatty acids that plays an important role in glucose homeostasis. Fatty acid binding increases glucose- stimulated insulin secretion, and may also enhance the secretion of glucagon-like peptide 1 (GLP-1). May also play a role in bone homeostasis; receptor signaling activates pathways that inhibit osteoclast differentiation (By similarity). Ligand binding leads to a conformation change that triggers signaling via G-proteins that activate phospholipase C, leading to an increase of the intracellular calcium concentration. Seems to act through a G(q) and G(i)-mediated pathway. {ECO:0000250|UniProtKB:Q76JU9, ECO:0000269|PubMed:12496284, ECO:0000269|PubMed:17699519, ECO:0000269|PubMed:24130766}.
• Pathway: Insulin secretion - Homo sapiens (human);GPR40 Pathway;GPCRs, Class A Rhodopsin-like;Signaling by GPCR;Signal Transduction;Metabolism;Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion;Free fatty acids regulate insulin secretion;Regulation of insulin secretion;Free fatty acid receptors;Class A/1 (Rhodopsin-like receptors);GPCR ligand binding;Integration of energy metabolism;G alpha (q) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

• pRec: 0.129

Intolerance Scores

• loftool: 0.703
• rvis_EVS: 0.24
• rvis_percentile_EVS: 69.21

Haploinsufficiency Scores

• pHI: 0.142
• hipred: N
• hipred_score: 0.272
• ghis: 0.428

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.224

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ffar1
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); liver/biliary system phenotype; reproductive 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); 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); homeostasis/metabolism phenotype; endocrine/exocrine gland phenotype; taste/olfaction phenotype

Gene ontology

• Biological process: G protein-coupled receptor signaling pathway;insulin secretion;positive regulation of insulin secretion;glucose homeostasis;positive regulation of calcium ion transport;response to fatty acid
• Cellular component: plasma membrane;integral component of plasma membrane
• Molecular function: G protein-coupled receptor activity;guanyl-nucleotide exchange factor activity;lipid binding;bioactive lipid receptor activity