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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
Protein Domains
(128..38-)
(/note="AB-hydrolase-1)
(/evidence="ECO:0000255"-)
Interpro:  IPR029058  IPR000073  IPR000952  IPR012020  
Prosite:   PS01133
STRING:   ENSP00000268129
Other Databases GeneCards:  ABHD2  Malacards:  ABHD2

Gene ontology

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GO accessionTerm nameEvidence codeGo 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

PubMed references

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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