ACSF2

acyl-CoA synthetase family member 2, the group of Acyl-CoA synthetase family

Basic information

Region (hg38): 17:50426157-50474845

Links

ENSG00000167107 ∙ NCBI:80221 ∙ OMIM:610465 ∙ HGNC:26101 ∙ Uniprot:Q96CM8 ∙ 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 ACSF2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACSF2 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			27	1		28
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			13		5	18
Total	0	0	40	1	5

Variants in ACSF2

This is a list of pathogenic ClinVar variants found in the ACSF2 region.

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

Position	Type	Phenotype	Significance	ClinVar
17-50426282-G-A		not specified	Uncertain significance (Jul 05, 2023)
17-50426304-G-C		not specified	Uncertain significance (Jan 03, 2024)
17-50426347-G-A		not specified	Uncertain significance (Jun 11, 2024)
17-50426367-T-A		not specified	Uncertain significance (Jan 09, 2024)
17-50460693-C-T		not specified	Uncertain significance (Oct 29, 2021)
17-50460698-G-T		not specified	Uncertain significance (Jan 17, 2024)
17-50460700-T-G		not specified	Uncertain significance (Nov 21, 2022)
17-50460706-C-T		not specified	Uncertain significance (Sep 16, 2021)
17-50460729-G-A		not specified	Likely benign (Jun 16, 2023)
17-50460753-C-A		not specified	Uncertain significance (May 28, 2024)
17-50460756-A-C		not specified	Uncertain significance (Mar 19, 2024)
17-50460756-A-G		not specified	Uncertain significance (Dec 14, 2023)
17-50460821-G-T		not specified	Uncertain significance (May 13, 2024)
17-50461682-A-T		not specified	Uncertain significance (Dec 12, 2023)
17-50462421-C-G		not specified	Uncertain significance (Apr 18, 2024)
17-50462439-G-A		not specified	Uncertain significance (Sep 01, 2021)
17-50462446-C-T		not specified	Uncertain significance (Jun 29, 2023)
17-50462487-G-A		not specified	Uncertain significance (Aug 10, 2021)
17-50462494-C-T		not specified	Uncertain significance (Apr 25, 2023)
17-50462508-C-T		not specified	Uncertain significance (Jun 07, 2024)
17-50463209-C-G		not specified	Uncertain significance (Jun 10, 2024)
17-50463232-G-A		not specified	Uncertain significance (Jun 16, 2024)
17-50463429-C-T		not specified	Uncertain significance (Apr 20, 2024)
17-50463438-A-G		not specified	Uncertain significance (May 18, 2022)
17-50463465-T-C		not specified	Uncertain significance (Dec 13, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ACSF2	protein_coding	protein_coding	ENST00000300441	16	48688

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000142	1.00	125656	0	92	125748	0.000366

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.98	249	354	0.704	0.0000202	3983
Missense in Polyphen		108	168.2	0.64208		1828
Synonymous	0.988	130	145	0.896	0.00000916	1197
Loss of Function	3.12	14	33.4	0.419	0.00000170	377

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000598	0.000590
Ashkenazi Jewish	0.00	0.00
East Asian	0.000218	0.000217
Finnish	0.000508	0.000508
European (Non-Finnish)	0.000506	0.000492
Middle Eastern	0.000218	0.000217
South Asian	0.0000980	0.0000980
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acyl-CoA synthases catalyze the initial reaction in fatty acid metabolism, by forming a thioester with CoA. Has some preference toward medium-chain substrates. Plays a role in adipocyte differentiation. {ECO:0000269|PubMed:16380219, ECO:0000269|PubMed:17762044}.
• Pathway: Mitochondrial LC-Fatty Acid Beta-Oxidation;Liver steatosis AOP;Metabolism of lipids;Mitochondrial Fatty Acid Beta-Oxidation;Metabolism;Fatty acid metabolism (Consensus)

Recessive Scores

• pRec: 0.201

Intolerance Scores

• loftool: 0.622
• rvis_EVS: -0.18
• rvis_percentile_EVS: 40.45

Haploinsufficiency Scores

• pHI: 0.157
• hipred: Y
• hipred_score: 0.601
• ghis: 0.466

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0833

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Acsf2
• Phenotype: adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); hematopoietic system phenotype; normal phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: fatty acid metabolic process;acyl-CoA metabolic process
• Cellular component: mitochondrial matrix
• Molecular function: acyl-CoA ligase activity;protein binding;ATP binding