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    ABHD2 abhydrolase domain containing 2, acylglycerol lipase [ Homo sapiens (human) ]

    Gene ID: 11057, updated on 28-Oct-2024

    Summary

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    Official Symbol
    ABHD2provided by HGNC
    Official Full Name
    abhydrolase domain containing 2, acylglycerol lipaseprovided by HGNC
    Primary source
    HGNC:HGNC:18717
    See related
    Ensembl:ENSG00000140526 MIM:612196; AllianceGenome:HGNC:18717
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    HS1-2; LABH2; PHPS1-2
    Summary
    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]
    Expression
    Ubiquitous expression in liver (RPKM 19.2), stomach (RPKM 14.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ABHD2 in Genome Data Viewer
    Location:
    15q26.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (89040998..89202355)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (86795895..86957178)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (89584229..89745586)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak2417 silencer Neighboring gene MPRA-validated peak2418 silencer Neighboring gene keratin 18 pseudogene 47 Neighboring gene CRISPRi-validated cis-regulatory element chr15.3128 Neighboring gene CRISPRi-validated cis-regulatory element chr15.3129 Neighboring gene capping actin protein of muscle Z-line subunit alpha 2 pseudogene Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:89536398-89537299 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr15:89542092-89542895 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:89545400-89546011 Neighboring gene Sharpr-MPRA regulatory region 4646 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:89547127-89547627 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:89574853-89575354 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:89592211-89592762 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:89602566-89603066 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10040 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10039 Neighboring gene coronary artery disease region linked MFGE8 regulatory lncRNA Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:89630450-89631095 Neighboring gene uncharacterized LOC124903573 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:89631827-89632346 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr15:89644900-89646099 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:89654480-89655018 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10042 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr15:89658786-89659361 Neighboring gene RNA, U7 small nuclear 195 pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:89682791-89683292 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:89683293-89683792 Neighboring gene high mobility group box 1 pseudogene 8 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr15:89710497-89711696 Neighboring gene Sharpr-MPRA regulatory region 3557 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:89738102-89738602 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:89738603-89739103 Neighboring gene Sharpr-MPRA regulatory region 8523 Neighboring gene vesicle-associated membrane protein-associated protein A-like Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10044 Neighboring gene retinaldehyde binding protein 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10045 Neighboring gene FA complementation group I Neighboring gene uncharacterized LOC124903548 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:89848389-89848616

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Membrane Cholesterol Inhibits Progesterone-Mediated Sperm Function through the Possible Involvement of ABHD2. De Toni L, et al. Int J Mol Sci, 2023 May 25. PMID 37298205, Free PMC Article
    2. Primary structure of a human protein which bears structural similarities to members of the rhodopsin/beta-adrenergic receptor family. Rapiejko PJ, et al. Nucleic Acids Res, 1988 Sep 12. PMID 2843827, Free PMC Article
    3. Elevated mature macrophage expression of human ABHD2 gene in vulnerable plaque. Miyata K, et al. Biochem Biophys Res Commun, 2008 Jan 11. PMID 17980156
    4. Associations of ABHD2 genetic variations with risks for chronic obstructive pulmonary disease in a Chinese Han population. Liu L, et al. PLoS One, 2015. PMID 25880496, Free PMC Article
    5. Suppression of ABHD2, identified through a functional genomics screen, causes anoikis resistance, chemoresistance and poor prognosis in ovarian cancer. Yamanoi K, et al. Oncotarget, 2016 Jul 26. PMID 27323405, Free PMC Article

    See all (25) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Abhd2, a Candidate Gene Regulating Airway Remodeling in COPD via TGF-beta.
      Title: Abhd2, a Candidate Gene Regulating Airway Remodeling in COPD via TGF-β.
    2. Membrane Cholesterol Inhibits Progesterone-Mediated Sperm Function through the Possible Involvement of ABHD2.
      Title: Membrane Cholesterol Inhibits Progesterone-Mediated Sperm Function through the Possible Involvement of ABHD2.
    3. Circular RNA circ_0079593 enhances malignant melanoma progression by the regulation of the miR-573/ABHD2 axis.
      Title: Circular RNA circ_0079593 enhances malignant melanoma progression by the regulation of the miR-573/ABHD2 axis.
    4. Suppression of ABHD2 in OVCA420 cells increased phosphorylated p38 and ERK, platinum resistance, and side population cells (p<0.01, respectively). Conversely, overexpression of ABHD2 decreased resistance to anoikis (p<0.05) and the amount of phosphorylated p38 and ERK in OVCA420 and SKOV3 cells.
      Title: Suppression of ABHD2, identified through a functional genomics screen, causes anoikis resistance, chemoresistance and poor prognosis in ovarian cancer.
    5. A mutant ABHD2 developed with alanine in place of Ser(207).
      Title: Molecular characterization of human ABHD2 as TAG lipase and ester hydrolase.
    6. These results show that joint tests of main effects and gene-gene interaction reveal associations at some novel loci that were missed when considering main effects alone.
      Title: Joint Analysis of Nuclear and Mitochondrial Variants in Age-Related Macular Degeneration Identifies Novel Loci TRPM1 and ABHD2/RLBP1.
    7. ABHD2 gene single nucleotide polymorphisms, such as rs12442260 contribute to chronic obstructive pulmonary disease susceptibility in the Chinese Han population.
      Title: Associations of ABHD2 genetic variations with risks for chronic obstructive pulmonary disease in a Chinese Han population.
    8. ABHD2 is highly expressed in spermatozoa, binds progesterone, and acts as a progesterone-dependent lipid hydrolase by depleting the endocannabinoid 2-arachidonoylglycerol (2AG) from plasma membrane.
      Title: Unconventional endocannabinoid signaling governs sperm activation via the sex hormone progesterone.
    9. Patients with selective immunoglobulin (Ig)A deficiency have a highly significant increase of homozygousity of HS1.2 allele *1, with an increase of 2.6-fold; the HS1.2 polymorphism influences Ig seric production, but not IgG switch.
      Title: Allele *1 of HS1.2 enhancer associates with selective IgA deficiency and IgM concentration.
    10. Our results showed that the ABHD2 was expressed in atherosclerotic lesions, and that the ABHD2 expression was significantly higher in the patients with UA than with SA.
      Title: Elevated mature macrophage expression of human ABHD2 gene in vulnerable plaque.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See Variation Viewer (GRCh37.p13)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Potential readthrough

    Included gene: CARMAL

    Homology

    Clone Names

    • MGC26249, MGC111112

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables acetylesterase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables acetylesterase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables diacylglycerol lipase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables diacylglycerol lipase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables hormone binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables monoacylglycerol lipase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables monoacylglycerol lipase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables nuclear steroid receptor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables triacylglycerol lipase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in acrosome reaction IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in acylglycerol catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in acylglycerol catabolic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in medium-chain fatty acid biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in medium-chain fatty acid catabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of smooth muscle cell migration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in response to progesterone IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in response to wounding IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in smooth muscle cell migration IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in sperm capacitation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in sperm capacitation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in steroid hormone receptor signaling pathway IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in steroid hormone receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in acrosomal vesicle IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in sperm flagellum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in sperm flagellum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in sperm plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in sperm plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    monoacylglycerol lipase ABHD2
    Names
    2-arachidonoylglycerol hydrolase
    abhydrolase domain-containing protein 2
    acetylesterase
    alpha/beta hydrolase domain containing protein 2
    lung alpha/beta hydrolase 2
    progesterone-sensitive lipase
    protein PHPS1-2
    testicular tissue protein Li 6
    NP_001403341.1
    NP_001403342.1
    NP_001403343.1
    NP_001403344.1
    NP_001403345.1
    NP_001403346.1
    NP_001403347.1
    NP_001403348.1
    NP_001403349.1
    NP_001403350.1
    NP_001403351.1
    NP_001403352.1
    NP_001403353.1
    NP_008942.3
    NP_690888.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001416412.1 → NP_001403341.1  monoacylglycerol lipase ABHD2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC013565, AC124068
      UniProtKB/Swiss-Prot
      P08910, Q53G48, Q53GU0, Q5FVD9, Q8TC79
      UniProtKB/TrEMBL
      A0A024RC89

    2. NM_001416413.1 → NP_001403342.1  monoacylglycerol lipase ABHD2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC013565, AC124068
      UniProtKB/Swiss-Prot
      P08910, Q53G48, Q53GU0, Q5FVD9, Q8TC79
      UniProtKB/TrEMBL
      A0A024RC89

    3. NM_001416414.1 → NP_001403343.1  monoacylglycerol lipase ABHD2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC013565, AC124068
      UniProtKB/Swiss-Prot
      P08910, Q53G48, Q53GU0, Q5FVD9, Q8TC79
      UniProtKB/TrEMBL
      A0A024RC89

    4. NM_001416415.1 → NP_001403344.1  monoacylglycerol lipase ABHD2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC013565, AC124068
      UniProtKB/Swiss-Prot
      P08910, Q53G48, Q53GU0, Q5FVD9, Q8TC79
      UniProtKB/TrEMBL
      A0A024RC89

    5. NM_001416416.1 → NP_001403345.1  monoacylglycerol lipase ABHD2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC013565, AC124068
      UniProtKB/Swiss-Prot
      P08910, Q53G48, Q53GU0, Q5FVD9, Q8TC79
      UniProtKB/TrEMBL
      A0A024RC89

    6. NM_001416417.1 → NP_001403346.1  monoacylglycerol lipase ABHD2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC013565, AC124068
      UniProtKB/Swiss-Prot
      P08910, Q53G48, Q53GU0, Q5FVD9, Q8TC79
      UniProtKB/TrEMBL
      A0A024RC89

    7. NM_001416418.1 → NP_001403347.1  monoacylglycerol lipase ABHD2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC013565, AC124068
      UniProtKB/Swiss-Prot
      P08910, Q53G48, Q53GU0, Q5FVD9, Q8TC79
      UniProtKB/TrEMBL
      A0A024RC89

    8. NM_001416419.1 → NP_001403348.1  monoacylglycerol lipase ABHD2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC013565, AC124068
      UniProtKB/Swiss-Prot
      P08910, Q53G48, Q53GU0, Q5FVD9, Q8TC79
      UniProtKB/TrEMBL
      A0A024RC89

    9. NM_001416420.1 → NP_001403349.1  monoacylglycerol lipase ABHD2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC013565, AC124068

    10. NM_001416421.1 → NP_001403350.1  monoacylglycerol lipase ABHD2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC013565, AC124068

    11. NM_001416422.1 → NP_001403351.1  monoacylglycerol lipase ABHD2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC013565, AC124068
      UniProtKB/Swiss-Prot
      P08910, Q53G48, Q53GU0, Q5FVD9, Q8TC79
      UniProtKB/TrEMBL
      A0A024RC89

    12. NM_001416423.1 → NP_001403352.1  monoacylglycerol lipase ABHD2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC013565, AC124068
      UniProtKB/Swiss-Prot
      P08910, Q53G48, Q53GU0, Q5FVD9, Q8TC79
      UniProtKB/TrEMBL
      A0A024RC89

    13. NM_001416424.1 → NP_001403353.1  monoacylglycerol lipase ABHD2 isoform 1

      Status: REVIEWED

      Source sequence(s)
      AC013565, AC124068
      UniProtKB/Swiss-Prot
      P08910, Q53G48, Q53GU0, Q5FVD9, Q8TC79
      UniProtKB/TrEMBL
      A0A024RC89

    14. NM_007011.8 → NP_008942.3  monoacylglycerol lipase ABHD2 isoform 1

      See identical proteins and their annotated locations for NP_008942.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) has a longer 5' UTR, as compared to variant 2.
      Source sequence(s)
      AC124068, AI918734, BC019248, BC090052
      Consensus CDS
      CCDS10348.1
      UniProtKB/Swiss-Prot
      P08910, Q53G48, Q53GU0, Q5FVD9, Q8TC79
      UniProtKB/TrEMBL
      A0A024RC89, A8K2S5
      Related
      ENSP00000455639.1, ENST00000565973.5
      Conserved Domains (1) summary
      cl21494
      Location:65 → 400
      Abhydrolase; alpha/beta hydrolases

    15. NM_152924.5 → NP_690888.1  monoacylglycerol lipase ABHD2 isoform 1

      See identical proteins and their annotated locations for NP_690888.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks four consecutive exons within the 5' UTR, as compared to variant 1. Both variants encode the same protein.
      Source sequence(s)
      AC124068, AI916724, BC090052
      Consensus CDS
      CCDS10348.1
      UniProtKB/Swiss-Prot
      P08910, Q53G48, Q53GU0, Q5FVD9, Q8TC79
      UniProtKB/TrEMBL
      A0A024RC89, A8K2S5
      Related
      ENSP00000268129.5, ENST00000352732.10
      Conserved Domains (1) summary
      cl21494
      Location:65 → 400
      Abhydrolase; alpha/beta hydrolases

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      89040998..89202355
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      86795895..86957178
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P08910.1 GenPept UniProtKB/Swiss-Prot:P08910

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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