AOAH (acyloxyacyl hydrolase)

2014-11-01  

Identity

HGNC
AOAH
LOCATION
7p14.2
LOCUSID
313
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 313
MIM: 102593
HGNC: 548
Ensembl: ENSG00000136250

Variants:

dbSNP: 313
ClinVar: 313
TCGA: ENSG00000136250
COSMIC: AOAH

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000136250ENST00000414637F8WCP9
ENSG00000136250ENST00000435386C9JJA7
ENSG00000136250ENST00000612871P28039
ENSG00000136250ENST00000617267A0A087WVT3
ENSG00000136250ENST00000617537P28039

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
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

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

References

Pubmed IDYearTitleCitations
293436452018Crystal structure of the mammalian lipopolysaccharide detoxifier.18
293436452018Crystal structure of the mammalian lipopolysaccharide detoxifier.18
278889102017Genetic and Immune Dysregulation in Chronic Rhinosinusitis.10
278889102017Genetic and Immune Dysregulation in Chronic Rhinosinusitis.10
263199892015Sequencing of candidate genes in Dominican families implicates both rare exonic and common non-exonic variants for carotid intima-media thickness at bifurcation.5
263199892015Sequencing of candidate genes in Dominican families implicates both rare exonic and common non-exonic variants for carotid intima-media thickness at bifurcation.5
227239752012Polymorphisms in RYBP and AOAH genes are associated with chronic rhinosinusitis in a Chinese population: a replication study.24
227239752012Polymorphisms in RYBP and AOAH genes are associated with chronic rhinosinusitis in a Chinese population: a replication study.24
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.37
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
202374962010New genetic associations detected in a host response study to hepatitis B vaccine.37
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
168151402006Polymorphisms in the novel gene acyloxyacyl hydroxylase (AOAH) are associated with asthma and associated phenotypes.0
168151402006Polymorphisms in the novel gene acyloxyacyl hydroxylase (AOAH) are associated with asthma and associated phenotypes.0

Citation

Dessen P

AOAH (acyloxyacyl hydrolase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60390/teaching-explorer/gene-explorer/humanGenome