ACOT13 (acyl-CoA thioesterase 13)

2016-10-01 Affiliation

Identity

HGNC

ACOT13

LOCATION

6p22.3

LOCUSID

55856

ALIAS

HT012,PNAS-27,THEM2

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 55856
MIM: 615652
HGNC: 20999
Ensembl: ENSG00000112304

Variants:

dbSNP: 55856
ClinVar: 55856
TCGA: ENSG00000112304
COSMIC: ACOT13

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000112304	ENST00000230048	Q9NPJ3
ENSG00000112304	ENST00000537591	Q9NPJ3

Expression (GTEx)

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

Pathway	Source	External ID
Metabolism	REACTOME	R-HSA-1430728
Metabolism of lipids and lipoproteins	REACTOME	R-HSA-556833
Fatty acid, triacylglycerol, and ketone body metabolism	REACTOME	R-HSA-535734
Triglyceride Biosynthesis	REACTOME	R-HSA-75109
Fatty Acyl-CoA Biosynthesis	REACTOME	R-HSA-75105

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
22262880	2012	Genetic variants of FOXP2 and KIAA0319/TTRAP/THEM2 locus are associated with altered brain activation in distinct language-related regions.	61
19170545	2009	The mechanisms of human hotdog-fold thioesterase 2 (hTHEM2) substrate recognition and catalysis illuminated by a structure and function based analysis.	32
17704541	2007	Interacting proteins dictate function of the minimal START domain phosphatidylcholine transfer protein/StarD2.	30
20877624	2010	Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.	17
17045243	2006	Human thioesterase superfamily member 2 (hTHEM2) is co-localized with beta-tubulin onto the microtubule.	13
16934754	2006	Crystal structure of human thioesterase superfamily member 2.	12
18095154	2008	Use of expression data and the CGEMS genome-wide breast cancer association study to identify genes that may modify risk in BRCA1/2 mutation carriers.	9
25953057	2016	Dyslexia and language impairment associated genetic markers influence cortical thickness and white matter in typically developing children.	9
24894958	2014	Molecular mechanism of a hotdog-fold acyl-CoA thioesterase.	6
23954868	2013	Lack of association between genetic polymorphisms in ROBO1, MRPL19/C2ORF3 and THEM2 with developmental dyslexia.	2

Citation

Dessen P

ACOT13 (acyl-CoA thioesterase 13)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56132/acot13-(acyl-coa-thioesterase-13)