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ABHD12 abhydrolase domain containing 12, lysophospholipase [ Homo sapiens (human) ]

Gene ID: 26090, updated on 23-Nov-2021

Summary

Official Symbol
ABHD12provided by HGNC
Official Full Name
abhydrolase domain containing 12, lysophospholipaseprovided by HGNC
Primary source
HGNC:HGNC:15868
See related
Ensembl:ENSG00000100997 MIM:613599
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
PHARC; ABHD12A; BEM46L2; hABHD12; C20orf22; dJ965G21.2
Summary
This gene encodes an enzyme that catalyzes the hydrolysis of 2-arachidonoyl glycerol (2-AG), the main endocannabinoid lipid transmitter that acts on cannabinoid receptors, CB1 and CB2. The endocannabinoid system is involved in a wide range of physiological processes, including neurotransmission, mood, appetite, pain appreciation, addiction behavior, and inflammation. Mutations in this gene are associated with the neurodegenerative disease, PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract), resulting from an inborn error of endocannabinoid metabolism. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.[provided by RefSeq, Jan 2011]
Expression
Ubiquitous expression in thyroid (RPKM 21.6), brain (RPKM 16.2) and 25 other tissues See more
Orthologs
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Genomic context

See ABHD12 in Genome Data Viewer
Location:
20p11.21
Exon count:
16
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 20 NC_000020.11 (25294743..25390835, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (25275379..25371471, complement)

Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101926889 Neighboring gene ectonucleoside triphosphate diphosphohydrolase 6 Neighboring gene uncharacterized LOC105372579 Neighboring gene Sharpr-MPRA regulatory region 4288 Neighboring gene glycogen phosphorylase B Neighboring gene uncharacterized LOC105372581 Neighboring gene peptidylprolyl isomerase A pseudogene 2 Neighboring gene GINS complex subunit 1 Neighboring gene ninein like Neighboring gene Sharpr-MPRA regulatory region 10548

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 Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
GeneReviews: Not available
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
MedGen: C2675204 OMIM: 612674 GeneReviews: Not available
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Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • DKFZp434P106

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables acylglycerol lipase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables acylglycerol lipase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables acylglycerol lipase activity TAS
Traceable Author Statement
more info
 
enables lysophospholipase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables lysophospholipase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables palmitoyl-(protein) hydrolase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables phospholipase activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
part_of AMPA glutamate receptor complex IEA
Inferred from Electronic Annotation
more info
 
located_in dendrite cytoplasm IEA
Inferred from Electronic Annotation
more info
 
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in integral component of membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
lysophosphatidylserine lipase ABHD12
Names
2-arachidonoylglycerol hydrolase ABHD12
abhydrolase domain-containing protein 12
monoacylglycerol lipase ABHD12
oxidized phosphatidylserine lipase ABHD12
NP_001035937.1
NP_056415.1
XP_011527516.1
XP_016883285.1
XP_016883286.1

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.

Genomic

  1. NG_028119.1 RefSeqGene

    Range
    5148..101240
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001042472.3NP_001035937.1  lysophosphatidylserine lipase ABHD12 isoform a

    See identical proteins and their annotated locations for NP_001035937.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript and encodes the shorter isoform (a).
    Source sequence(s)
    AK075023, BQ672998, BQ961739
    Consensus CDS
    CCDS42857.1
    UniProtKB/Swiss-Prot
    Q8N2K0
    Related
    ENSP00000341408.5, ENST00000339157.10
    Conserved Domains (1) summary
    pfam12146
    Location:165351
    Hydrolase_4; Serine aminopeptidase, S33
  2. NM_015600.5NP_056415.1  lysophosphatidylserine lipase ABHD12 isoform b

    See identical proteins and their annotated locations for NP_056415.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate 3' terminal exon compared to variant 1, resulting in a longer isoform (b) with a distinct C-terminus compared to isoform a.
    Source sequence(s)
    AK293495, BC014049, BQ961739
    Consensus CDS
    CCDS13172.1
    UniProtKB/Swiss-Prot
    Q8N2K0
    Related
    ENSP00000365725.3, ENST00000376542.8
    Conserved Domains (1) summary
    pfam12146
    Location:165351
    Hydrolase_4; Serine aminopeptidase, S33

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p13 Primary Assembly

    Range
    25294743..25390835 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011529214.2XP_011527516.1  lysophosphatidylserine lipase ABHD12 isoform X1

    Conserved Domains (1) summary
    pfam12146
    Location:165352
    Hydrolase_4; Serine aminopeptidase, S33
  2. XM_017027796.1XP_016883285.1  lysophosphatidylserine lipase ABHD12 isoform X2

    Related
    ENSP00000500106.1, ENST00000672566.1
    Conserved Domains (1) summary
    pfam12146
    Location:8195
    Hydrolase_4; Serine aminopeptidase, S33
  3. XM_017027797.2XP_016883286.1  lysophosphatidylserine lipase ABHD12 isoform X3

RNA

  1. XR_002958465.1 RNA Sequence

  2. XR_002958466.1 RNA Sequence

  3. XR_002958467.1 RNA Sequence

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