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Aliases for ABHD2 Gene

Aliases for ABHD2 Gene

  • Abhydrolase Domain Containing 2 2 3 5
  • Abhydrolase Domain-Containing Protein 2 3 4
  • 2-Arachidonoylglycerol Hydrolase 3 4
  • Lung Alpha/Beta Hydrolase 2 3 4
  • Protein PHPS1-2 3 4
  • LABH2 3 4
  • Alpha/Beta Hydrolase Domain Containing Protein 2 3
  • Testicular Tissue Protein Li 6 3
  • Monoacylglycerol Lipase ABHD2 3
  • EC 3.1.1.23 4
  • PHPS1-2 3
  • HS1-2 3

External Ids for ABHD2 Gene

Previous GeneCards Identifiers for ABHD2 Gene

  • GC15P085970
  • GC15P082997
  • GC15P087218
  • GC15P087361
  • GC15P087432
  • GC15P089631
  • GC15P065743

Summaries for ABHD2 Gene

Entrez Gene Summary for ABHD2 Gene

  • 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 cell membrane. This leads to activation of the sperm calcium channel CatSper, which results in sperm activation. Alternative splicing of this gene results in two transcript variants encoding the same protein. [provided by RefSeq, Jan 2017]

GeneCards Summary for ABHD2 Gene

ABHD2 (Abhydrolase Domain Containing 2) is a Protein Coding gene. Gene Ontology (GO) annotations related to this gene include carboxylic ester hydrolase activity. An important paralog of this gene is ABHD3.

UniProtKB/Swiss-Prot for ABHD2 Gene

  • Progesterone-dependent acylglycerol lipase that catalyzes hydrolysis of endocannabinoid arachidonoylglycerol (AG) from cell membrane (PubMed:26989199). Acts as a progesterone receptor: progesterone-binding activates the acylglycerol lipase activity, mediating degradation of 1-arachidonoylglycerol (1AG) and 2-arachidonoylglycerol (2AG) to glycerol and arachidonic acid (AA) (PubMed:26989199). Plays a key role in sperm capacitation in response to progesterone by mediating degradation of 2AG, an inhibitor of the sperm calcium channel CatSper, leading to calcium influx via CatSper and sperm activation (PubMed:26989199). May also play a role in smooth muscle cells migration (By similarity).

Gene Wiki entry for ABHD2 Gene

Additional gene information for ABHD2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABHD2 Gene

Genomics for ABHD2 Gene

GeneHancer (GH) Regulatory Elements for ABHD2 Gene

Promoters and enhancers for ABHD2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J089086 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 661.5 +3.7 3727 9 CLOCK FEZF1 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC MEF2D ABHD2 LOC102724566 POLG RNU7-195P ENSG00000261407 LOC100631255 FANCI TICRR HAPLN3 ISG20
GH15J089040 Promoter/Enhancer 1.2 EPDnew Ensembl 661.8 -46.3 -46309 0.6 USF1 NFIB ZNF133 INSM2 GLI4 ZNF335 ZNF664 POLR2A ZNF143 PRDM10 ABHD2 LOC102724566 HAPLN3 RLBP1 FANCI GC15M089074
GH15J089084 Enhancer 0.8 ENCODE dbSUPER 650.7 -1.9 -1948 1 TEAD1 MZF1 CEBPG ETV5 TEAD3 KDM1A RCOR1 CHD2 ZBTB17 ABHD2 GC15P089079
GH15J089124 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 37.7 +45.6 45619 16.2 HDGF FOXA2 ZFP64 ARID4B FEZF1 DMAP1 ZNF2 YY1 ZNF143 FOS ABHD2 LOC102724566 DET1 ISG20 HMGB1P8 GC15M089136 RNU7-195P
GH15J089110 Enhancer 1.4 Ensembl ENCODE dbSUPER 11.8 +29.8 29794 13.5 PKNOX1 CLOCK FOXA2 ARID4B NEUROD1 SIN3A DMAP1 IRF4 YY1 FOS POLG LOC100631255 ABHD2 LOC102724566 RNU7-195P GC15M089095
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ABHD2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ABHD2 gene promoter:
  • MEF-2A
  • aMEF-2
  • C/EBPalpha
  • GATA-3
  • RFX1
  • HNF-3beta
  • FOXL1
  • Nkx2-5
  • Pax-2a
  • Pax-2

Genomic Locations for ABHD2 Gene

Genomic Locations for ABHD2 Gene
chr15:89,087,459-89,202,360
(GRCh38/hg38)
Size:
114,902 bases
Orientation:
Plus strand
chr15:89,630,690-89,745,591
(GRCh37/hg19)
Size:
114,902 bases
Orientation:
Plus strand

Genomic View for ABHD2 Gene

Genes around ABHD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABHD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABHD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABHD2 Gene

Proteins for ABHD2 Gene

  • Protein details for ABHD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P08910-ABHD2_HUMAN
    Recommended name:
    Monoacylglycerol lipase ABHD2
    Protein Accession:
    P08910
    Secondary Accessions:
    • Q53G48
    • Q53GU0
    • Q5FVD9
    • Q8TC79

    Protein attributes for ABHD2 Gene

    Size:
    425 amino acids
    Molecular mass:
    48315 Da
    Quaternary structure:
    No Data Available

neXtProt entry for ABHD2 Gene

Post-translational modifications for ABHD2 Gene

  • Ubiquitination at Lys152, Lys57, and Lys36
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ABHD2 Gene

Domains & Families for ABHD2 Gene

Gene Families for ABHD2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted membrane proteins

Protein Domains for ABHD2 Gene

Suggested Antigen Peptide Sequences for ABHD2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P08910

UniProtKB/Swiss-Prot:

ABHD2_HUMAN :
  • Belongs to the AB hydrolase superfamily. AB hydrolase 4 family.
Family:
  • Belongs to the AB hydrolase superfamily. AB hydrolase 4 family.
genes like me logo Genes that share domains with ABHD2: view

Function for ABHD2 Gene

Molecular function for ABHD2 Gene

UniProtKB/Swiss-Prot Function:
Progesterone-dependent acylglycerol lipase that catalyzes hydrolysis of endocannabinoid arachidonoylglycerol (AG) from cell membrane (PubMed:26989199). Acts as a progesterone receptor: progesterone-binding activates the acylglycerol lipase activity, mediating degradation of 1-arachidonoylglycerol (1AG) and 2-arachidonoylglycerol (2AG) to glycerol and arachidonic acid (AA) (PubMed:26989199). Plays a key role in sperm capacitation in response to progesterone by mediating degradation of 2AG, an inhibitor of the sperm calcium channel CatSper, leading to calcium influx via CatSper and sperm activation (PubMed:26989199). May also play a role in smooth muscle cells migration (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Hydrolyzes glycerol monoesters of long-chain fatty acids.
UniProtKB/Swiss-Prot EnzymeRegulation:
Acylglycerol lipase activity is activated upon binding to progesterone.

Enzyme Numbers (IUBMB) for ABHD2 Gene

Phenotypes From GWAS Catalog for ABHD2 Gene

Gene Ontology (GO) - Molecular Function for ABHD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003707 steroid hormone receptor activity IDA 26989199
GO:0016298 lipase activity IBA --
GO:0016787 hydrolase activity IEA --
GO:0016788 hydrolase activity, acting on ester bonds IBA --
GO:0034338 short-chain carboxylesterase activity IBA --
genes like me logo Genes that share ontologies with ABHD2: view
genes like me logo Genes that share phenotypes with ABHD2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for ABHD2

CRISPR Products

miRNA for ABHD2 Gene

miRTarBase miRNAs that target ABHD2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABHD2

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ABHD2 Gene

Localization for ABHD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABHD2 Gene

Cell projection, cilium, flagellum membrane; Single-pass type II membrane protein. Cell membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ABHD2 gene
Compartment Confidence
plasma membrane 5
extracellular 3
nucleus 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ABHD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001669 acrosomal vesicle IEA --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0036126 sperm flagellum IDA 26989199
genes like me logo Genes that share ontologies with ABHD2: view

Pathways & Interactions for ABHD2 Gene

SuperPathways for ABHD2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for ABHD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0007340 acrosome reaction IEA --
GO:0009611 response to wounding IEA --
GO:0016042 lipid catabolic process IEA --
GO:0030336 negative regulation of cell migration IEA --
genes like me logo Genes that share ontologies with ABHD2: view

No data available for Pathways by source and SIGNOR curated interactions for ABHD2 Gene

Drugs & Compounds for ABHD2 Gene

No Compound Related Data Available

Transcripts for ABHD2 Gene

Unigene Clusters for ABHD2 Gene

Abhydrolase domain containing 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABHD2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ABHD2 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9 ^ 10a · 10b · 10c ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16a · 16b ^
SP1: - - -
SP2: - - - - - - -
SP3: - - -
SP4: - - -
SP5:
SP6:
SP7: - - - - - - - - -
SP8: - - - - - -
SP9: - - - - - - - -
SP10: - - - -
SP11: - - - -

ExUns: 17
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

Relevant External Links for ABHD2 Gene

GeneLoc Exon Structure for
ABHD2
ECgene alternative splicing isoforms for
ABHD2

Expression for ABHD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ABHD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ABHD2 Gene

This gene is overexpressed in Liver (x4.1).

Protein differential expression in normal tissues from HIPED for ABHD2 Gene

This gene is overexpressed in Heart (41.4) and Liver (24.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ABHD2 Gene



Protein tissue co-expression partners for ABHD2 Gene

NURSA nuclear receptor signaling pathways regulating expression of ABHD2 Gene:

ABHD2

SOURCE GeneReport for Unigene cluster for ABHD2 Gene:

Hs.122337

mRNA Expression by UniProt/SwissProt for ABHD2 Gene:

P08910-ABHD2_HUMAN
Tissue specificity: Present in sperm (at protein level).

Evidence on tissue expression from TISSUES for ABHD2 Gene

  • Liver(4.5)
  • Nervous system(3.9)
  • Intestine(2.9)
  • Lung(2.6)
genes like me logo Genes that share expression patterns with ABHD2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for ABHD2 Gene

Orthologs for ABHD2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ABHD2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ABHD2 34 33
  • 99.53 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ABHD2 34
  • 95 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 93 (a)
OneToMany
-- 34
  • 90 (a)
OneToMany
dog
(Canis familiaris)
Mammalia ABHD2 34 33
  • 92.16 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ABHD2 34 33
  • 92 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Abhd2 16 34 33
  • 91.53 (n)
rat
(Rattus norvegicus)
Mammalia Abhd2 33
  • 91.06 (n)
chicken
(Gallus gallus)
Aves ABHD2 34 33
  • 80.47 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABHD2 34
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abhd2 33
  • 73.84 (n)
zebrafish
(Danio rerio)
Actinopterygii abhd2b 34
  • 76 (a)
OneToMany
abhd2a 34
  • 75 (a)
OneToMany
zgc55722 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5024 33
fruit fly
(Drosophila melanogaster)
Insecta Hydr2 34 33
  • 53.54 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008542 33
  • 50.36 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes -- 34
  • 18 (a)
ManyToMany
EHT1 34
  • 17 (a)
ManyToMany
EEB1 34
  • 17 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9408 34
  • 42 (a)
OneToOne
Species where no ortholog for ABHD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ABHD2 Gene

ENSEMBL:
Gene Tree for ABHD2 (if available)
TreeFam:
Gene Tree for ABHD2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ABHD2: view image

Paralogs for ABHD2 Gene

Paralogs for ABHD2 Gene

genes like me logo Genes that share paralogs with ABHD2: view

Variants for ABHD2 Gene

Sequence variations from dbSNP and Humsavar for ABHD2 Gene

SNP ID Clin Chr 15 pos Variation AA Info Type
rs1000048597 -- 89,104,073(+) A/G genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000079589 -- 89,097,913(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000080088 -- 89,145,262(+) G/A intron_variant
rs1000148780 -- 89,099,330(+) G/A genic_upstream_transcript_variant, intron_variant
rs1000157687 -- 89,149,317(+) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ABHD2 Gene

Variant ID Type Subtype PubMed ID
nsv977755 CNV duplication 23825009
nsv523275 CNV loss 19592680
nsv507795 OTHER sequence alteration 20534489
nsv473088 CNV novel sequence insertion 20440878
nsv1050740 CNV loss 25217958
nsv1038140 CNV gain 25217958
esv3637182 CNV loss 21293372
dgv459e214 CNV gain 21293372

Variation tolerance for ABHD2 Gene

Residual Variation Intolerance Score: 23.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.24; 24.85% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ABHD2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABHD2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABHD2 Gene

Disorders for ABHD2 Gene

Additional Disease Information for ABHD2

No disorders were found for ABHD2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ABHD2 Gene

Publications for ABHD2 Gene

  1. Unconventional endocannabinoid signaling governs sperm activation via the sex hormone progesterone. (PMID: 26989199) Miller MR … Lishko PV (Science (New York, N.Y.) 2016) 3 4 58
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  3. Primary structure of a human protein which bears structural similarities to members of the rhodopsin/beta-adrenergic receptor family. (PMID: 2843827) Rapiejko PJ … Malbon CC (Nucleic acids research 1988) 3 4 58
  4. Joint Analysis of Nuclear and Mitochondrial Variants in Age-Related Macular Degeneration Identifies Novel Loci TRPM1 and ABHD2/RLBP1. (PMID: 28813576) Persad PJ … International Age-Related Macular Degeneration Genomics Consortium (IAMDGC) (Investigative ophthalmology & visual science 2017) 3 58
  5. Suppression of ABHD2, identified through a functional genomics screen, causes anoikis resistance, chemoresistance and poor prognosis in ovarian cancer. (PMID: 27323405) Yamanoi K … Mandai M (Oncotarget 2016) 3 58

Products for ABHD2 Gene

Sources for ABHD2 Gene

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