Gene id |
11057 |
Gene Summary Protein Summary Gene ontology Diseases PubMed |
Gene Summary
|
Gene Symbol |
ABHD2 Gene UCSC Ensembl |
Aliases |
HS1-2, LABH2, PHPS1-2 |
Gene name |
abhydrolase domain containing 2, acylglycerol lipase |
Alternate names |
monoacylglycerol lipase ABHD2, 2-arachidonoylglycerol hydrolase, abhydrolase domain containing 2, abhydrolase domain-containing protein 2, acetylesterase, alpha/beta hydrolase domain containing protein 2, lung alpha/beta hydrolase 2, progesterone-sensitive lipas, |
Gene location |
15q26.1 (89088421: 89202354) Exons: 17 NC_000015.10
|
Gene summary(Entrez) |
This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a wide range of enzymes. The encoded protein is an acylglycerol lipase that catalyzes the hydrolysis of endocannabinoid arachidonoylglycerol from the
|
OMIM |
612196 |
Protein Summary
|
Protein general information
| P08910
Name: Monoacylglycerol lipase ABHD2 (EC 3.1.1.23) (2 arachidonoylglycerol hydrolase) (Abhydrolase domain containing protein 2) (Acetylesterase) (EC 3.1.1.6) (Lung alpha/beta hydrolase 2) (Progesterone sensitive lipase) (EC 3.1.1.79) (Protein PHPS1 2)
Length: 425 Mass: 48315
Tissue specificity: Present in sperm (at protein level). {ECO
|
Sequence |
MNAMLETPELPAVFDGVKLAAVAAVLYVIVRCLNLKSPTAPPDLYFQDSGLSRFLLKSCPLLTKEYIPPLIWGKS GHIQTALYGKMGRVRSPHPYGHRKFITMSDGATSTFDLFEPLAEHCVGDDITMVICPGIANHSEKQYIRTFVDYA QKNGYRCAVLNHLGALPNIELTSPRMFTYGCTWEFGAMVNYIKKTYPLTQLVVVGFSLGGNIVCKYLGETQANQE KVLCCVSVCQGYSALRAQETFMQWDQCRRFYNFLMADNMKKIILSHRQALFGDHVKKPQSLEDTDLSRLYTATSL MQIDDNVMRKFHGYNSLKEYYEEESCMRYLHRIYVPLMLVNAADDPLVHESLLTIPKSLSEKRENVMFVLPLHGG HLGFFEGSVLFPEPLTWMDKLVVEYANAICQWERNKLQCSDTEQVEADLE
|
Structural information |
|
Other Databases |
GeneCards: ABHD2 Malacards: ABHD2 |
|
GO accession | Term name | Evidence code | Go category |
---|
GO:0097524 |
sperm plasma membrane
|
IBA |
cellular component |
GO:0046464 |
acylglycerol catabolic pr ocess
|
IBA |
biological process |
GO:0043401 |
steroid hormone mediated signaling pathway
|
IBA |
biological process |
GO:0048240 |
sperm capacitation
|
IBA |
biological process |
GO:0047372 |
acylglycerol lipase activ ity
|
IBA |
molecular function |
GO:0044255 |
cellular lipid metabolic process
|
IBA |
biological process |
GO:0036126 |
sperm flagellum
|
IBA |
cellular component |
GO:0034338 |
short-chain carboxylester ase activity
|
IBA |
molecular function |
GO:0008126 |
acetylesterase activity
|
IBA |
molecular function |
GO:0097524 |
sperm plasma membrane
|
IDA |
cellular component |
GO:0046464 |
acylglycerol catabolic pr ocess
|
IDA |
biological process |
GO:0032570 |
response to progesterone
|
IDA |
biological process |
GO:0003707 |
steroid hormone receptor activity
|
IDA |
molecular function |
GO:0043401 |
steroid hormone mediated signaling pathway
|
IDA |
biological process |
GO:0036126 |
sperm flagellum
|
IDA |
cellular component |
GO:0048240 |
sperm capacitation
|
IDA |
biological process |
GO:0047372 |
acylglycerol lipase activ ity
|
IDA |
molecular function |
GO:0042562 |
hormone binding
|
IDA |
molecular function |
GO:0033878 |
hormone-sensitive lipase activity
|
IDA |
molecular function |
GO:0008126 |
acetylesterase activity
|
IDA |
molecular function |
GO:0042995 |
cell projection
|
IEA |
cellular component |
GO:0016787 |
hydrolase activity
|
IEA |
molecular function |
GO:0005886 |
plasma membrane
|
IEA |
cellular component |
GO:0016042 |
lipid catabolic process
|
IEA |
biological process |
GO:0005929 |
cilium
|
IEA |
cellular component |
GO:0006629 |
lipid metabolic process
|
IEA |
biological process |
GO:0052689 |
carboxylic ester hydrolas e activity
|
IEA |
molecular function |
GO:0016021 |
integral component of mem brane
|
IEA |
cellular component |
GO:0031514 |
motile cilium
|
IEA |
cellular component |
GO:0016020 |
membrane
|
IEA |
cellular component |
GO:0033878 |
hormone-sensitive lipase activity
|
IEA |
molecular function |
GO:0008126 |
acetylesterase activity
|
IEA |
molecular function |
GO:0047372 |
acylglycerol lipase activ ity
|
IEA |
molecular function |
GO:0009611 |
response to wounding
|
IEA |
biological process |
GO:0030336 |
negative regulation of ce ll migration
|
IEA |
biological process |
GO:0001669 |
acrosomal vesicle
|
IEA |
cellular component |
GO:0007340 |
acrosome reaction
|
IEA |
biological process |
GO:0005886 |
plasma membrane
|
IEA |
cellular component |
|
|
Associated diseases |
References |
Aberrant CpGs in Low Motility Sperm | MIK: 21674046 |
Cryptorchidism | MIK: 28606200 |
Spermatogenic defects | MIK: 31037746 |
Teratozoospermia | MIK: 17327269 |
|
|
PMID |
Condition |
Mutation |
Ethnicity |
Population details |
Infertility_type |
Associated_genes |
Abstract |
17327269 |
Teratozoos permia
|
|
|
19 (6 controls , 13 cases)
|
Male infertility |
GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
|
Show abstract |
21674046 |
Aberrant C pGs in Low Motility Sperm
|
|
|
18
|
Male infertility |
GSE26881
|
Show abstract |
28606200 |
Cryptorchi dism
|
|
|
Monozgotic twin s (1 control, I cwith cryptorc hidism)
|
Male infertility |
MeDIP-Seq
|
Show abstract |
31037746 |
Spermatoge nic defect s
|
|
|
16 (1 control, 15 cases)
|
Male infertility |
GSE6023 analyzed using GEO2R
|
Show abstract |
|