ACOT2
protein-codingacyl-CoA thioesterase 2, the group of Acyl-CoA thioesterases
Gene summary
This gene encodes a member of the acyl-CoA thioesterase protein family, and is one of four acyl-CoA hydrolase genes located in a cluster on chromosome 14. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2012]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~8.0 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to ACOT2 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_006821.6. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 1 | ||||
| missense | 98 | 10 | 108 | |||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | 1 | ||||
| Total | 0 | 0 | 99 | 11 | 0 | 110 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_006812.3 | 3 | MANE Select | |
| Ensembl | ENSP00000238651.5 | 3 | MANE Select | |
| RefSeq | NP_001351106.1 | 3 | Standard | |
| RefSeq | NP_001351107.1 | 3 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Biosynthesis of unsaturated fatty acids - Homo sapiens (human)
- Fatty acid elongation - Homo sapiens (human)
- Ovarian steroidogenesis - Homo sapiens (human)
- stearate biosynthesis
- Metabolism of lipids
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
Molecular Function
- signaling receptor binding
- protein binding
- palmitoyl-CoA hydrolase activity
- acyl-CoA hydrolase activity
- carboxylic ester hydrolase activity
Cellular Component
- mitochondrion
- mitochondrial matrix
- peroxisomal matrix
- cytosol
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000238651
- Coding exons
- 3
- Length
- 8034
- Individuals with no LoFs
- 125641
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 97
- Defined
- 125738
- p
- 0.000386
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.698 | 285 | 254 | 1.12 | 0.0000124 | 3038 |
| Missense (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 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00049 | 0.00043 | rare |
| Latino/Admixed American | 0.00015 | 0.00014 | rare |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.00023 | 0.00022 | rare |
| Finnish | 0.000048 | 0.000046 | rare |
| European (Non-Finnish) | 0.00022 | 0.00020 | rare |
| South Asian | 0.0018 | 0.0018 | notable |
| Other | 0.00018 | 0.00016 | rare |
dbNSFP Gene Annotations
Source:
- 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}.;
Recessive Scores
- pRec
- 0.109
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- S
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.784
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |