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

    Gene ID: 26090, updated on 28-Oct-2024

    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; 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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See ABHD12 in Genome Data Viewer
    Location:
    20p11.21
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (25294743..25390835, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 20 NC_060944.1 (25359833..25455939, complement)
    RS_2024_09 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 ATAC-STARR-seq lymphoblastoid silent region 12741 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17661 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17662 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17663 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:25194425-25194926 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:25202205-25202966 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:25202967-25203726 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:25203727-25204488 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:25204539-25204720 Neighboring gene ectonucleoside triphosphate diphosphohydrolase 6 Neighboring gene uncharacterized LOC105372579 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17664 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12742 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr20:25218064-25219263 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:25222455-25223072 Neighboring gene ReSE screen-validated silencer GRCh37_chr20:25227753-25228006 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12743 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12744 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12745 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17665 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12746 Neighboring gene glycogen phosphorylase B Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:25274716-25275238 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:25276284-25276805 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:25280703-25281254 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:25281255-25281805 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr20:25289826-25291025 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:25297613-25298222 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17668 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17667 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12747 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr20:25310906-25311427 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:25337131-25337731 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:25337732-25338331 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12748 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12749 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12750 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12751 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12752 Neighboring gene uncharacterized LOC105372581 Neighboring gene MPRA-validated peak4176 silencer Neighboring gene peptidylprolyl isomerase A pseudogene 2 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr20:25388698-25389455 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17669 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:25418017-25418688 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:25418689-25419360 Neighboring gene GINS complex subunit 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17670 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:25457461-25457961 Neighboring gene ninein like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:25483989-25484500 Neighboring gene Sharpr-MPRA regulatory region 10548 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:25506669-25507224 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:25507225-25507779 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:25513199-25514199 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:25529495-25530318 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr20:25541385-25541914 Neighboring gene H3K27ac hESC enhancer GRCh37_chr20:25545021-25545520 Neighboring gene Sharpr-MPRA regulatory region 10614 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12753

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    PHARC syndrome
    MedGen: C2675204 OMIM: 612674 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • DKFZp434P106

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables lysophospholipase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables lysophospholipase activity 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 monoacylglycerol lipase activity TAS
    Traceable Author Statement
    more info
     
    enables palmitoyl-(protein) hydrolase activity IEA
    Inferred from Electronic Annotation
    more info
     
    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
     
    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

    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)

    NEW Try the new Transcript table

    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_001042472.3NP_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
      A6NED4, A6NJ90, A8K450, B4DE71, Q5T710, Q5T711, Q8N2K0, Q96CR1, Q9BX05, Q9NPX7, Q9UFV6
      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: 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_000020.11 Reference GRCh38.p14 Primary Assembly

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

    mRNA and Protein(s)

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

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

      Conserved Domains (1) summary
      pfam12146
      Location:165352
      Hydrolase_4; Serine aminopeptidase, S33
    3. XM_047440093.1XP_047296049.1  lysophosphatidylserine lipase ABHD12 isoform X7

      UniProtKB/TrEMBL
      A0A5F9ZH71
      Related
      ENSP00000500106.1, ENST00000672566.1
    4. XM_047440089.1XP_047296045.1  lysophosphatidylserine lipase ABHD12 isoform X4

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

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

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

      Related
      ENSP00000459121.1, ENST00000576316.5
    8. XM_047440091.1XP_047296047.1  lysophosphatidylserine lipase ABHD12 isoform X6

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

    10. XM_017027797.3XP_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_054323333.1XP_054179308.1  lysophosphatidylserine lipase ABHD12 isoform X5

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

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

      UniProtKB/TrEMBL
      A0A5F9ZH71
    4. XM_054323332.1XP_054179307.1  lysophosphatidylserine lipase ABHD12 isoform X4

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

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

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

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

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