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

Gene ID: 26090, updated on 3-Apr-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
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Genomic context

See ABHD12 in Genome Data Viewer
Location:
20p11.21
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 20 NC_000020.11 (25294743..25390835, complement)
RS_2023_10 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 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
  • 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 acylglycerol lipase activity IBA
Inferred from Biological aspect of Ancestor
more info
 
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
 
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 
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)

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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_001042472.3NP_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_2023_10

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