ABHD2 (abhydrolase domain containing 2, acylglycerol lipase)

2014-11-01  

Identity

HGNC
ABHD2
LOCATION
15q26.1
LOCUSID
11057
ALIAS
HS1-2,LABH2,PHPS1-2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 11057
MIM: 612196
HGNC: 18717
Ensembl: ENSG00000140526

Variants:

dbSNP: 11057
ClinVar: 11057
TCGA: ENSG00000140526
COSMIC: ABHD2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000140526ENST00000352732P08910
ENSG00000140526ENST00000352732A0A024RC89
ENSG00000140526ENST00000565066H3BMT2
ENSG00000140526ENST00000565973P08910
ENSG00000140526ENST00000565973A0A024RC89
ENSG00000140526ENST00000569411H3BUZ6
ENSG00000140526ENST00000569550H3BN19

Expression (GTEx)

0
10
20
30
40
50
60
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
bone marrow

References

Pubmed IDYearTitleCitations
269891992016Unconventional endocannabinoid signaling governs sperm activation via the sex hormone progesterone.41
200075912009Allele *1 of HS1.2 enhancer associates with selective IgA deficiency and IgM concentration.8
273234052016Suppression of ABHD2, identified through a functional genomics screen, causes anoikis resistance, chemoresistance and poor prognosis in ovarian cancer.8
179801562008Elevated mature macrophage expression of human ABHD2 gene in vulnerable plaque.7
272474282016Molecular characterization of human ABHD2 as TAG lipase and ester hydrolase.5
288135762017Joint Analysis of Nuclear and Mitochondrial Variants in Age-Related Macular Degeneration Identifies Novel Loci TRPM1 and ABHD2/RLBP1.3
258804962015Associations of ABHD2 genetic variations with risks for chronic obstructive pulmonary disease in a Chinese Han population.1

Citation

Dessen P

ABHD2 (abhydrolase domain containing 2, acylglycerol lipase)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60059/abhd2