ACOT2

acyl-CoA thioesterase 2, the group of Acyl-CoA thioesterases

Basic information

Region (hg38): 14:73567620-73575658

Links

ENSG00000119673

∙ NCBI:10965 ∙ OMIM:609972 ∙ HGNC:18431 ∙ Uniprot:P49753 ∙ 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 ACOT2 gene.

not_specified (90 variants)
not_provided (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACOT2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000006821.6. 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.

Effect	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			84 clinvar	9 clinvar		93
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	84	9	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ACOT2	protein_coding	protein_coding	ENST00000238651	3	8034

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000933	0.560	125641	0	97	125738	0.000386

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.698	285	254	1.12	0.0000124	3038
Missense in Polyphen		60	62.279	0.9634		782
Synonymous	-1.42	136	117	1.17	0.00000603	1057
Loss of Function	0.760	9	11.8	0.762	5.02e-7	158

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000636	0.000579
Ashkenazi Jewish	0.00	0.00
East Asian	0.000232	0.000217
Finnish	0.0000482	0.0000462
European (Non-Finnish)	0.000220	0.000202
Middle Eastern	0.000232	0.000217
South Asian	0.00184	0.00183
Other	0.000180	0.000163

dbNSFP

Source: dbNSFP

Function: FUNCTION: Acyl-CoA thioesterases are a group of enzymes that catalyze the hydrolysis of acyl-CoAs to the free fatty acid and coenzyme A (CoASH), providing the potential to regulate intracellular levels of acyl-CoAs, free fatty acids and CoASH. Displays high levels of activity on medium- and long chain acyl CoAs. {ECO:0000269|PubMed:10944470, ECO:0000269|PubMed:16940157}.;
Pathway: Biosynthesis of unsaturated fatty acids - Homo sapiens (human);Fatty acid elongation - Homo sapiens (human);Ovarian steroidogenesis - Homo sapiens (human);stearate biosynthesis;Metabolism of lipids;Metabolism of proteins;Mitochondrial Fatty Acid Beta-Oxidation;Leukotriene metabolism;Metabolism;Peroxisomal protein import;Fatty acid metabolism;palmitate biosynthesis;Bile acid biosynthesis;De novo fatty acid biosynthesis;Vitamin E metabolism;oleate biosynthesis (Consensus)

Recessive Scores

pRec: 0.109

Haploinsufficiency Scores

pHI: 0.0620
hipred: N
hipred_score: 0.278
ghis: 0.435

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: S
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.784

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Acot2
Phenotype

Gene ontology

Biological process: very long-chain fatty acid metabolic process;long-chain fatty acid metabolic process;protein targeting to peroxisome;fatty acid metabolic process;acyl-CoA metabolic process
Cellular component: mitochondrion;mitochondrial matrix;peroxisomal matrix;cytosol
Molecular function: signaling receptor binding;protein binding;palmitoyl-CoA hydrolase activity;acyl-CoA hydrolase activity;carboxylic ester hydrolase activity;myristoyl-CoA hydrolase activity