ACAT2

acetyl-CoA acetyltransferase 2

Basic information

Region (hg38): 6:159762045-159779112

Links

ENSG00000120437NCBI:39OMIM:100678HGNC:94Uniprot:Q9BWD1AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • acetyl-CoA acetyltransferase-2 deficiency (Limited), mode of inheritance: AR
  • acetyl-CoA acetyltransferase-2 deficiency (No Known Disease Relationship), mode of inheritance: Unknown

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ACAT2 gene.

  • not_specified (51 variants)
  • not_provided (7 variants)
  • Acetyl-CoA_acetyltransferase-2_deficiency (1 variants)
  • ZTTK_syndrome (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACAT2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000005891.3. 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
3
clinvar
1
clinvar
4
missense
47
clinvar
3
clinvar
1
clinvar
51
nonsense
0
start loss
0
frameshift
1
clinvar
1
splice donor/acceptor (+/-2bp)
0
Total 0 0 48 6 2
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ACAT2protein_codingprotein_codingENST00000367048 918785
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
5.53e-70.6711257090391257480.000155
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.6991902190.8670.00001042561
Missense in Polyphen5787.7920.649261046
Synonymous0.4186872.50.9380.00000331817
Loss of Function1.121217.00.7067.82e-7218

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00005820.0000582
Ashkenazi Jewish0.000.00
East Asian0.0001640.000163
Finnish0.000.00
European (Non-Finnish)0.0002500.000246
Middle Eastern0.0001640.000163
South Asian0.0001990.000196
Other0.000.00

dbNSFP

Source: dbNSFP

Pathway
Mevalonate pathway;Tryptophan metabolism - Homo sapiens (human);Pyruvate metabolism - Homo sapiens (human);Butanoate metabolism - Homo sapiens (human);Fat digestion and absorption - Homo sapiens (human);Lysine degradation - Homo sapiens (human);Propanoate metabolism - Homo sapiens (human);Fatty acid degradation - Homo sapiens (human);Synthesis and degradation of ketone bodies - Homo sapiens (human);Terpenoid backbone biosynthesis - Homo sapiens (human);Valine, leucine and isoleucine degradation - Homo sapiens (human);Glyoxylate and dicarboxylate metabolism - Homo sapiens (human);Simvastatin Action Pathway;Pravastatin Action Pathway;Atorvastatin Action Pathway;Hyper-IgD syndrome;Cholesteryl ester storage disease;Lysosomal Acid Lipase Deficiency (Wolman Disease);Alendronate Action Pathway;Rosuvastatin Action Pathway;Lovastatin Action Pathway;Mevalonic aciduria;Wolman disease;Risedronate Action Pathway;Cerivastatin Action Pathway;Pamidronate Action Pathway;Fluvastatin Action Pathway;Smith-Lemli-Opitz Syndrome (SLOS);Chondrodysplasia Punctata II, X Linked Dominant (CDPX2);CHILD Syndrome;Desmosterolosis;Hypercholesterolemia;Steroid Biosynthesis;Zoledronate Action Pathway;Ibandronate Action Pathway;ketogenesis;ketolysis;Butanoate metabolism;Metabolism of lipids;Citrate cycle;Metabolism;Lysine degradation;superpathway of cholesterol biosynthesis;Metabolism of steroids;isoleucine degradation;Pyruvate metabolism;glutaryl-CoA degradation;Tryptophan degradation;Cholesterol biosynthesis;mevalonate pathway;superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate) (Consensus)

Recessive Scores

pRec
0.259

Intolerance Scores

loftool
0.537
rvis_EVS
-0.36
rvis_percentile_EVS
28.93

Haploinsufficiency Scores

pHI
0.114
hipred
N
hipred_score
0.272
ghis
0.605

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
N
gene_indispensability_score
0.348

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumHigh
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Acat3
Phenotype

Gene ontology

Biological process
lipid metabolic process;fatty acid beta-oxidation;cholesterol biosynthetic process
Cellular component
nucleus;nucleolus;cytoplasm;mitochondrion;cytosol;extracellular exosome
Molecular function
acetyl-CoA C-acetyltransferase activity;acetyl-CoA C-acyltransferase activity;protein binding