FAR2

fatty acyl-CoA reductase 2, the group of Short chain dehydrogenase/reductase superfamily

Basic information

Region (hg38): 12:29149015-29341121

Previous symbols: [ "MLSTD1" ]

Links

ENSG00000064763 ∙ NCBI:55711 ∙ OMIM:616156 ∙ HGNC:25531 ∙ Uniprot:Q96K12 ∙ 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 FAR2 gene.

• Inborn genetic diseases (19 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAR2 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
missense			19			19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	19	0	1

Variants in FAR2

This is a list of pathogenic ClinVar variants found in the FAR2 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-29270477-G-A		not specified	Uncertain significance (Oct 26, 2022)
12-29270579-G-A		not specified	Uncertain significance (Mar 01, 2024)
12-29270585-C-A		not specified	Uncertain significance (Oct 10, 2023)
12-29270588-A-G		not specified	Uncertain significance (Jun 30, 2023)
12-29270615-G-A		not specified	Uncertain significance (Nov 01, 2022)
12-29293306-G-C		not specified	Uncertain significance (May 27, 2022)
12-29293316-A-G		not specified	Uncertain significance (Feb 10, 2022)
12-29293321-G-A		not specified	Uncertain significance (Apr 20, 2023)
12-29293402-A-T		not specified	Uncertain significance (Feb 03, 2022)
12-29297064-C-G		not specified	Uncertain significance (Jun 22, 2023)
12-29307732-C-G		not specified	Uncertain significance (Jul 08, 2022)
12-29311020-C-T			Benign (Aug 24, 2017)
12-29311054-A-G		not specified	Uncertain significance (May 27, 2022)
12-29311103-G-A		not specified	Uncertain significance (Mar 29, 2023)
12-29311106-A-G		not specified	Uncertain significance (Jun 22, 2023)
12-29311888-A-T		not specified	Uncertain significance (Jun 27, 2022)
12-29316858-A-G		not specified	Uncertain significance (Jan 05, 2022)
12-29316958-G-A		not specified	Uncertain significance (Jan 26, 2022)
12-29321835-A-G		not specified	Uncertain significance (Jan 03, 2022)
12-29321857-G-A		not specified	Uncertain significance (Dec 16, 2023)
12-29321875-C-T		not specified	Uncertain significance (Feb 09, 2022)
12-29321923-G-A		not specified	Uncertain significance (Oct 05, 2022)
12-29332635-G-A			Benign (May 15, 2018)
12-29332693-G-T		not specified	Uncertain significance (Mar 14, 2023)
12-29333714-C-G		not specified	Uncertain significance (Jun 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAR2	protein_coding	protein_coding	ENST00000536681	11	191878

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.560	0.440	125737	0	11	125748	0.0000437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.70	210	292	0.720	0.0000156	3417
Missense in Polyphen		75	115.84	0.64745		1408
Synonymous	-0.407	108	103	1.05	0.00000569	956
Loss of Function	3.62	5	24.2	0.206	0.00000111	298

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000152	0.000152
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000529	0.0000527
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Catalyzes the reduction of saturated but not unsaturated C16 or C18 fatty acyl-CoA to fatty alcohols. A lower activity can be observed with shorter fatty acyl-CoA substrates (PubMed:15220348). It may play a role in the production of ether lipids/plasmalogens and wax monoesters which synthesis requires fatty alcohols as substrates (By similarity). {ECO:0000250|UniProtKB:Q8WVX9, ECO:0000269|PubMed:15220348}.
• Pathway: Peroxisome - Homo sapiens (human);Metabolism of lipids;Metabolism;Wax biosynthesis (Consensus)

Recessive Scores

• pRec: 0.135

Intolerance Scores

• rvis_EVS: -0.84
• rvis_percentile_EVS: 11.18

Haploinsufficiency Scores

• pHI: 0.116
• hipred: Y
• hipred_score: 0.774
• ghis: 0.562

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.161

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Far2
• 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); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms 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); growth/size/body region 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)

Gene ontology

• Biological process: lipid metabolic process;wax biosynthetic process;long-chain fatty-acyl-CoA metabolic process;oxidation-reduction process
• Cellular component: peroxisome;integral component of peroxisomal membrane;peroxisomal matrix
• Molecular function: oxidoreductase activity;fatty-acyl-CoA reductase (alcohol-forming) activity;alcohol-forming fatty acyl-CoA reductase activity