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

Gene ID: 26090, updated on 21-Mar-2023

Summary

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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; AllianceGenome:HGNC:15868
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

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See ABHD12 in Genome Data Viewer
Location:
20p11.21
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (25294743..25390835, complement)
RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (25359833..25455939, complement)
105.20220307 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 BRD4-independent group 4 enhancer GRCh37_chr20:25218064-25219263 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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective. Nguyen XT, et al. Genes (Basel), 2021 Sep 11. PMID 34573385, Free PMC Article
  2. ABHD12 Knockdown Suppresses Breast Cancer Cell Proliferation, Migration and Invasion. Jun S, et al. Anticancer Res, 2020 May. PMID 32366405
  3. A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review. Li T, et al. Gene, 2019 Jul 1. PMID 30974196
  4. A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature. Lerat J, et al. J Peripher Nerv Syst, 2017 Jun. PMID 28448692
  5. Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness. Yoshimura H, et al. Ann Otol Rhinol Laryngol, 2015 May. PMID 25743180

See all (58) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective.
    Title: The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective.
  2. Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome.
    Title: Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndrome.
  3. Mapping the Neuroanatomy of ABHD16A, ABHD12, and Lysophosphatidylserines Provides New Insights into the Pathophysiology of the Human Neurological Disorder PHARC.
    Title: Mapping the Neuroanatomy of ABHD16A, ABHD12, and Lysophosphatidylserines Provides New Insights into the Pathophysiology of the Human Neurological Disorder PHARC.
  4. ABHD12 plays a crucial role in cell proliferation, migration, and invasion of breast cancer cells.
    Title: ABHD12 Knockdown Suppresses Breast Cancer Cell Proliferation, Migration and Invasion.
  5. Findings in Usher Syndrome predicted the potential function of this gene in the development of hearing and vision loss, particularly with regard to impaired signal transmission, and identified a novel nonsense variant to expand the variant spectrum in ABHD12.
    Title: A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review.
  6. ABHD12 is enriched on the endoplasmic reticulum membrane, where most of the very-long-chain fatty acids are biosynthesized in cells.
    Title: Biochemical characterization of the PHARC-associated serine hydrolase ABHD12 reveals its preference for very-long-chain lipids.
  7. This study presented the various mutation of ABHD12 responsible for PHARC syndrome.
    Title: A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature.
  8. Study identified a new missense mutation, p.T253R, in ABHD12, which is functionally linked to the neurodegenerative disease PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and early-onset cataract), as demonstrated by its deactivation of monoacylglycerol lipase activity and inability to rescue zebrafish abhd12 knockdown phenotypes.
    Title: Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC.
  9. ABHD12 mutation in 2 PHARC (Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract)patients who suffered from deaf-blindness and dysfunctional central and peripheral nervous systems.
    Title: Novel ABHD12 mutations in PHARC patients: the differential diagnosis of deaf-blindness.
  10. Null mutations in the ABHD12 gene lead to PHARC syndrome, a neurodegenerative disease including polyneuropathy, hearing loss, cerebellar ataxia, RP, and early-onset cataract. Our study allowed us to report 5 new mutations in ABHD12.
    Title: Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.
Submit: New GeneRIF Correction See all GeneRIFs (15)

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

Associated conditions

Description Tests
PHARC syndrome
MedGen: C2675204 OMIM: 612674 GeneReviews: Not available
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EBI GWAS Catalog

Description
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

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

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 IEA
Inferred from Electronic Annotation
more info
  
enables phospholipase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in acylglycerol catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in adult walking behavior IEA
Inferred from Electronic Annotation
more info
  
involved_in arachidonic acid metabolic process TAS
Traceable Author Statement
more info
  
involved_in glycerophospholipid catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in monoacylglycerol catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in monoacylglycerol catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in phosphatidylserine catabolic process IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in phosphatidylserine catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in phospholipid catabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein depalmitoylation IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of inflammatory response IEA
Inferred from Electronic Annotation
more info
  
involved_in response to auditory stimulus IEA
Inferred from Electronic Annotation
more info
  
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 membrane ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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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_016883286.1
XP_047296043.1
XP_047296044.1
XP_047296045.1
XP_047296046.1
XP_047296047.1
XP_047296048.1
XP_047296049.1
XP_047296050.1
XP_054179303.1
XP_054179304.1
XP_054179305.1
XP_054179306.1
XP_054179307.1
XP_054179308.1
XP_054179309.1
XP_054179310.1
XP_054179311.1

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..95769
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001042472.3 → NP_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, Q9UFV6
    Related
    ENSP00000341408.5, ENST00000339157.10
    Conserved Domains (1) summary
    pfam12146
    Location:165 → 351
    Hydrolase_4; Serine aminopeptidase, S33

  2. NM_015600.5 → NP_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:165 → 351
    Hydrolase_4; Serine aminopeptidase, S33

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000020.11 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_047440090.1 → XP_047296046.1  lysophosphatidylserine lipase ABHD12 isoform X5

  2. XM_011529214.3 → XP_011527516.1  lysophosphatidylserine lipase ABHD12 isoform X2

    Conserved Domains (1) summary
    pfam12146
    Location:165 → 352
    Hydrolase_4; Serine aminopeptidase, S33

  3. XM_047440093.1 → XP_047296049.1  lysophosphatidylserine lipase ABHD12 isoform X7

    UniProtKB/TrEMBL
    A0A5F9ZH71
    Related
    ENSP00000500106.1, ENST00000672566.1

  4. XM_047440089.1 → XP_047296045.1  lysophosphatidylserine lipase ABHD12 isoform X4

  5. XM_047440087.1 → XP_047296043.1  lysophosphatidylserine lipase ABHD12 isoform X1

  6. XM_047440092.1 → XP_047296048.1  lysophosphatidylserine lipase ABHD12 isoform X6

  7. XM_047440094.1 → XP_047296050.1  lysophosphatidylserine lipase ABHD12 isoform X9

    Related
    ENSP00000459121.1, ENST00000576316.5

  8. XM_047440091.1 → XP_047296047.1  lysophosphatidylserine lipase ABHD12 isoform X6

  9. XM_047440088.1 → XP_047296044.1  lysophosphatidylserine lipase ABHD12 isoform X3

  10. XM_017027797.3 → XP_016883286.1  lysophosphatidylserine lipase ABHD12 isoform X8

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060944.1 Alternate T2T-CHM13v2.0

    Range
    25359833..25455939 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054323333.1 → XP_054179308.1  lysophosphatidylserine lipase ABHD12 isoform X5

  2. XM_054323329.1 → XP_054179304.1  lysophosphatidylserine lipase ABHD12 isoform X2

  3. XM_054323335.1 → XP_054179310.1  lysophosphatidylserine lipase ABHD12 isoform X7

  4. XM_054323332.1 → XP_054179307.1  lysophosphatidylserine lipase ABHD12 isoform X4

  5. XM_054323328.1 → XP_054179303.1  lysophosphatidylserine lipase ABHD12 isoform X10

  6. XM_054323331.1 → XP_054179306.1  lysophosphatidylserine lipase ABHD12 isoform X11

  7. XM_054323334.1 → XP_054179309.1  lysophosphatidylserine lipase ABHD12 isoform X12

  8. XM_054323330.1 → XP_054179305.1  lysophosphatidylserine lipase ABHD12 isoform X11

  9. XM_054323336.1 → XP_054179311.1  lysophosphatidylserine lipase ABHD12 isoform X8

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8N2K0.2 GenPept UniProtKB/Swiss-Prot:Q8N2K0

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