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

Gene ID: 11057, updated on 17-Jun-2019

Summary

Official Symbol
ABHD2provided by HGNC
Official Full Name
abhydrolase domain containing 2provided by HGNC
Primary source
HGNC:HGNC:18717
See related
Ensembl:ENSG00000140526 MIM:612196
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

Genomic context

See ABHD2 in Genome Data Viewer
Location:
15q26.1
Exon count:
17
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (89088422..89202355)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (89631381..89745591)

Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene capping actin protein of muscle Z-line subunit alpha 2 pseudogene Neighboring gene uncharacterized LOC102724566 Neighboring gene RNA, U7 small nuclear 195 pseudogene Neighboring gene high mobility group box 1 pseudogene 8 Neighboring gene vesicle-associated membrane protein-associated protein A pseudogene Neighboring gene retinaldehyde binding protein 1 Neighboring gene FA complementation group I Neighboring gene DNA polymerase gamma, catalytic subunit

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC26249, MGC111112

Gene Ontology Provided by GOA

Function Evidence Code Pubs
acetylesterase activity IEA
Inferred from Electronic Annotation
more info
 
acylglycerol lipase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acylglycerol lipase activity IDA
Inferred from Direct Assay
more info
PubMed 
hormone binding IDA
Inferred from Direct Assay
more info
PubMed 
hormone-sensitive lipase activity IEA
Inferred from Electronic Annotation
more info
 
lipase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
short-chain carboxylesterase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
steroid hormone receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
acrosome reaction IEA
Inferred from Electronic Annotation
more info
 
acylglycerol catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
acylglycerol catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
cellular lipid metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
medium-chain fatty acid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
medium-chain fatty acid catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of cell migration IEA
Inferred from Electronic Annotation
more info
 
response to progesterone IDA
Inferred from Direct Assay
more info
PubMed 
response to wounding IEA
Inferred from Electronic Annotation
more info
 
sperm capacitation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sperm capacitation IDA
Inferred from Direct Assay
more info
PubMed 
steroid hormone mediated signaling pathway IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
steroid hormone mediated signaling pathway IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
acrosomal vesicle IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
sperm flagellum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sperm flagellum IDA
Inferred from Direct Assay
more info
PubMed 
sperm plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sperm plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
monoacylglycerol lipase ABHD2
Names
2-arachidonoylglycerol hydrolase
abhydrolase domain-containing protein 2
alpha/beta hydrolase domain containing protein 2
lung alpha/beta hydrolase 2
protein PHPS1-2
testicular tissue protein Li 6
NP_008942.3
NP_690888.1
XP_005254889.1
XP_005254890.1
XP_011519467.1
XP_024305597.1
XP_024305598.1
XP_024305599.1
XP_024305600.1
XP_024305602.1

NCBI Reference Sequences (RefSeq)

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_007011.8NP_008942.3  monoacylglycerol lipase ABHD2

    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
    UniProtKB/TrEMBL
    A0A024RC89
    Conserved Domains (1) summary
    cl21494
    Location:65400
    Abhydrolase; alpha/beta hydrolases
  2. NM_152924.5NP_690888.1  monoacylglycerol lipase ABHD2

    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
    UniProtKB/TrEMBL
    A0A024RC89
    Related
    ENSP00000268129.5, ENST00000352732.10
    Conserved Domains (1) summary
    cl21494
    Location:65400
    Abhydrolase; alpha/beta hydrolases

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

    Range
    89088422..89202355
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005254832.2XP_005254889.1  monoacylglycerol lipase ABHD2 isoform X1

    See identical proteins and their annotated locations for XP_005254889.1

    UniProtKB/Swiss-Prot
    P08910
    UniProtKB/TrEMBL
    A0A024RC89
    Related
    ENSP00000455639.1, ENST00000565973.5
    Conserved Domains (1) summary
    cl21494
    Location:65400
    Abhydrolase; alpha/beta hydrolases
  2. XM_024449829.1XP_024305597.1  monoacylglycerol lipase ABHD2 isoform X1

    Conserved Domains (1) summary
    cl21494
    Location:65400
    Abhydrolase; alpha/beta hydrolases
  3. XM_011521165.2XP_011519467.1  monoacylglycerol lipase ABHD2 isoform X1

    See identical proteins and their annotated locations for XP_011519467.1

    UniProtKB/Swiss-Prot
    P08910
    UniProtKB/TrEMBL
    A0A024RC89
    Conserved Domains (1) summary
    cl21494
    Location:65400
    Abhydrolase; alpha/beta hydrolases
  4. XM_024449830.1XP_024305598.1  monoacylglycerol lipase ABHD2 isoform X1

    Conserved Domains (1) summary
    cl21494
    Location:65400
    Abhydrolase; alpha/beta hydrolases
  5. XM_024449832.1XP_024305600.1  monoacylglycerol lipase ABHD2 isoform X1

    Conserved Domains (1) summary
    cl21494
    Location:65400
    Abhydrolase; alpha/beta hydrolases
  6. XM_024449834.1XP_024305602.1  monoacylglycerol lipase ABHD2 isoform X1

    Conserved Domains (1) summary
    cl21494
    Location:65400
    Abhydrolase; alpha/beta hydrolases
  7. XM_005254833.2XP_005254890.1  monoacylglycerol lipase ABHD2 isoform X1

    See identical proteins and their annotated locations for XP_005254890.1

    UniProtKB/Swiss-Prot
    P08910
    UniProtKB/TrEMBL
    A0A024RC89
    Conserved Domains (1) summary
    cl21494
    Location:65400
    Abhydrolase; alpha/beta hydrolases
  8. XM_024449831.1XP_024305599.1  monoacylglycerol lipase ABHD2 isoform X1

    Conserved Domains (1) summary
    cl21494
    Location:65400
    Abhydrolase; alpha/beta hydrolases
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