ACAA2 (acetyl-CoA acyltransferase 2)

2014-11-01  

Identity

HGNC
ACAA2
LOCATION
18q21.1
LOCUSID
10449
ALIAS
DSAEC
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 10449
MIM: 604770
HGNC: 83
Ensembl: ENSG00000167315

Variants:

dbSNP: 10449
ClinVar: 10449
TCGA: ENSG00000167315
COSMIC: ACAA2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000167315ENST00000285093P42765
ENSG00000167315ENST00000585948K7EJB1
ENSG00000167315ENST00000586100K7ER88
ENSG00000167315ENST00000586485K7EJ68
ENSG00000167315ENST00000587994A0A0B4J2A4
ENSG00000167315ENST00000589432K7EME0

Expression (GTEx)

0
50
100
150
200
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Fatty acid elongationKEGGko00062
Fatty acid degradationKEGGko00071
Valine, leucine and isoleucine degradationKEGGko00280
Fatty acid elongationKEGGhsa00062
Fatty acid degradationKEGGhsa00071
Valine, leucine and isoleucine degradationKEGGhsa00280
Metabolic pathwaysKEGGhsa01100
Fatty acid biosynthesis, elongation, mitochondriaKEGGhsa_M00085
beta-OxidationKEGGhsa_M00087
Fatty acid biosynthesis, elongation, mitochondriaKEGGM00085
beta-OxidationKEGGM00087
Fatty acid metabolismKEGGhsa01212
Fatty acid metabolismKEGGko01212
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolismREACTOMER-HSA-535734
Mitochondrial Fatty Acid Beta-OxidationREACTOMER-HSA-77289

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
205717542010Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population.26
209722502011Genetic loci associated with lipid concentrations and cardiovascular risk factors in the Korean population.20
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
183713122008Acetyl-Coenzyme A acyltransferase 2 attenuates the apoptotic effects of BNIP3 in two human cell lines.16
206799602010Pharmacogenetic analysis of lipid responses to rosuvastatin in Chinese patients.8

Citation

Dessen P

ACAA2 (acetyl-CoA acyltransferase 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60069/acaa2-(acetyl-coa-acyltransferase-2)