GeneBe

ACSF2

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

Basic information

Region (hg38): 17:50426158-50474845

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.

  • not_specified (119 variants)
  • not_provided (6 variants)

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. These statistics are base on transcript: NM_000025149.6. Only rare variants are included in the table.

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.

EffectPLPVUSLBBSum
synonymous
0
missense
75
clinvar
3
clinvar
 78
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 75 3 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ACSF2protein_codingprotein_codingENST00000300441 1648688
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
0.00001421.001256560921257480.000366
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.982493540.7040.00002023983
Missense in Polyphen108168.20.642081828
Synonymous0.9881301450.8960.000009161197
Loss of Function3.121433.40.4190.00000170377

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0005980.000590
Ashkenazi Jewish0.000.00
East Asian0.0002180.000217
Finnish0.0005080.000508
European (Non-Finnish)0.0005060.000492
Middle Eastern0.0002180.000217
South Asian0.00009800.0000980
Other0.0001630.000163

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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