ACYP2 (acylphosphatase 2)

2007-04-01  

Identity

HGNC
ACYP2
LOCATION
2p16.2
LOCUSID
98
ALIAS
ACYM,ACYP
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 98
MIM: 102595
HGNC: 180
Ensembl: ENSG00000170634

Variants:

dbSNP: 98
ClinVar: 98
TCGA: ENSG00000170634
COSMIC: ACYP2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000170634ENST00000303536F8WA34
ENSG00000170634ENST00000394666P14621
ENSG00000170634ENST00000394666A0A140VJD7
ENSG00000170634ENST00000406041E9PF46
ENSG00000170634ENST00000422521U3KQ94
ENSG00000170634ENST00000494922U3KPX1
ENSG00000170634ENST00000606082U3KQ09
ENSG00000170634ENST00000606865U3KPX8
ENSG00000170634ENST00000607452U3KQL2

Expression (GTEx)

0
5
10
15
20
25
30
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
Pyruvate metabolismKEGGko00620
Pyruvate metabolismKEGGhsa00620

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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA162263534OtotoxicityDiseaseClinicalAnnotationassociatedPD26928270, 31666714
PA443557Brain NeoplasmsDiseaseClinicalAnnotationassociatedPD26928270, 31666714
PA443840DeafnessDiseaseClinicalAnnotationassociatedPD26928270, 31666714
PA449014cisplatinChemicalClinicalAnnotationassociatedPD26928270, 31666714

References

Pubmed IDYearTitleCitations
117993982002Kinetic partitioning of protein folding and aggregation.90
105420901999Mutational analysis of acylphosphatase suggests the importance of topology and contact order in protein folding.62
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
256650072015Common variants in ACYP2 influence susceptibility to cisplatin-induced hearing loss.27
156706082005Reversal of protein aggregation provides evidence for multiple aggregated States.21
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
160843862005Glycine residues appear to be evolutionarily conserved for their ability to inhibit aggregation.16
269282702016Replication of a genetic variant in ACYP2 associated with cisplatin-induced hearing loss in patients with osteosarcoma.12
275527092016Telomere length-related gene ACYP2 polymorphism is associated with the risk of HAPE in Chinese Han population.12
201983152010Association of genetic variants with hemorrhagic stroke in Japanese individuals.11

Citation

Dessen P

ACYP2 (acylphosphatase 2)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47264/acyp2