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.

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.

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			55	4	1	60
nonsense						0
start loss			1			1
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	56	4	1

Variants in ACOT2

This is a list of pathogenic ClinVar variants found in the ACOT2 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-73569262-C-G		not specified	Uncertain significance (Jan 03, 2022)
14-73569265-C-T		not specified	Uncertain significance (Feb 28, 2024)
14-73569275-C-T		not specified	Uncertain significance (Dec 10, 2024)
14-73569281-T-G		not specified	Uncertain significance (Feb 27, 2023)
14-73569303-G-T		not specified	Uncertain significance (Mar 27, 2023)
14-73569311-C-G		not specified	Uncertain significance (Jan 09, 2025)
14-73569332-C-T		not specified	Uncertain significance (Feb 04, 2025)
14-73569458-G-A		not specified	Uncertain significance (Jan 16, 2024)
14-73569482-T-G		not specified	Uncertain significance (May 30, 2023)
14-73569503-T-C		not specified	Uncertain significance (Jan 08, 2024)
14-73569572-A-G		not specified	Uncertain significance (Jun 23, 2023)
14-73569590-A-G		not specified	Uncertain significance (Mar 21, 2024)
14-73569605-T-G		not specified	Uncertain significance (Mar 29, 2023)
14-73569637-A-C		not specified	Uncertain significance (Dec 15, 2022)
14-73569638-G-T		not specified	Uncertain significance (Dec 15, 2022)
14-73569668-T-C		not specified	Uncertain significance (Feb 16, 2023)
14-73569672-G-C		not specified	Uncertain significance (Jan 08, 2024)
14-73569687-G-T		not specified	Uncertain significance (Aug 09, 2021)
14-73569694-T-G		not specified	Uncertain significance (Aug 22, 2023)
14-73569697-G-C		not specified	Likely benign (Dec 10, 2024)
14-73569713-G-T		not specified	Uncertain significance (Dec 20, 2023)
14-73569718-G-T		not specified	Uncertain significance (Dec 17, 2024)
14-73569779-G-A		not specified	Uncertain significance (Nov 01, 2022)
14-73569791-A-C		not specified	Uncertain significance (Feb 28, 2023)
14-73569794-C-G		not specified	Uncertain significance (May 22, 2024)

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

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