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 ... See more...

Aliases for ABHD12 Gene

Aliases for ABHD12 Gene

  • Abhydrolase Domain Containing 12, Lysophospholipase 2 3 5
  • Oxidized Phosphatidylserine Lipase ABHD12 3 4
  • Abhydrolase Domain-Containing Protein 12 3 4
  • 2-Arachidonoylglycerol Hydrolase ABHD12 3 4
  • Lysophosphatidylserine Lipase ABHD12 3 4
  • Monoacylglycerol Lipase ABHD12 3 4
  • EC 3.1.1.23 4 50
  • DJ965G21.2 2 3
  • C20orf22 3 4
  • ABHD12A 2 3
  • BEM46L2 2 3
  • HABHD12 3 4
  • Chromosome 20 Open Reading Frame 22 2
  • Abhydrolase Domain Containing 12 2
  • DKFZP434P106 2
  • EC 3.1.-.- 4
  • ABHD12 5
  • PHARC 3

External Ids for ABHD12 Gene

Previous HGNC Symbols for ABHD12 Gene

  • C20orf22

Previous GeneCards Identifiers for ABHD12 Gene

  • GC20M025224
  • GC20M025275

Summaries for ABHD12 Gene

Entrez Gene Summary for ABHD12 Gene

  • 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]

GeneCards Summary for ABHD12 Gene

ABHD12 (Abhydrolase Domain Containing 12, Lysophospholipase) is a Protein Coding gene. Diseases associated with ABHD12 include Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract and Cone Dystrophy. Among its related pathways are Signaling by GPCR and Effects of PIP2 hydrolysis. Gene Ontology (GO) annotations related to this gene include hydrolase activity and acylglycerol lipase activity. An important paralog of this gene is ABHD12B.

UniProtKB/Swiss-Prot Summary for ABHD12 Gene

  • Lysophosphatidylserine (LPS) lipase that mediates the hydrolysis of lysophosphatidylserine, a class of signaling lipids that regulates immunological and neurological processes (PubMed:25290914, PubMed:30237167, PubMed:30420694, PubMed:30720278, PubMed:30643283). Represents a major lysophosphatidylserine lipase in the brain, thereby playing a key role in the central nervous system (By similarity). Also able to hydrolyze oxidized phosphatidylserine; oxidized phosphatidylserine is produced in response to severe inflammatory stress and constitutes a proapoptotic 'eat me' signal (PubMed:30643283). Also has monoacylglycerol (MAG) lipase activity: hydrolyzes 2-arachidonoylglycerol (2-AG), thereby acting as a regulator of endocannabinoid signaling pathways (PubMed:22969151, PubMed:24027063). Has a strong preference for very-long-chain lipid substrates; substrate specificity is likely due to improved catalysis and not improved substrate binding (PubMed:30237167).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ABHD12 Gene

Genomics for ABHD12 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ABHD12 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ABHD12 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ABHD12

Top Transcription factor binding sites by QIAGEN in the ABHD12 gene promoter:
  • CREB
  • deltaCREB
  • Egr-1
  • Egr-3
  • p53
  • Pax-4a
  • Pax-5
  • SRF
  • SRF (504 AA)
  • ZID

Genomic Locations for ABHD12 Gene

Latest Assembly
chr20:25,294,742-25,390,835
(GRCh38/hg38)
Size:
96,094 bases
Orientation:
Minus strand

Previous Assembly
chr20:25,275,379-25,371,471
(GRCh37/hg19 by Entrez Gene)
Size:
96,093 bases
Orientation:
Minus strand

chr20:25,275,379-25,371,619
(GRCh37/hg19 by Ensembl)
Size:
96,241 bases
Orientation:
Minus strand

Genomic View for ABHD12 Gene

Genes around ABHD12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABHD12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABHD12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABHD12 Gene

Proteins for ABHD12 Gene

  • Protein details for ABHD12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N2K0-ABD12_HUMAN
    Recommended name:
    Lysophosphatidylserine lipase ABHD12
    Protein Accession:
    Q8N2K0
    Secondary Accessions:
    • A6NED4
    • A6NJ90
    • A8K450
    • B4DE71
    • Q5T710
    • Q5T711
    • Q96CR1
    • Q9BX05
    • Q9NPX7
    • Q9UFV6

    Protein attributes for ABHD12 Gene

    Size:
    398 amino acids
    Molecular mass:
    45097 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ABHD12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ABHD12 Gene

Selected DME Specific Peptides for ABHD12 Gene

Q8N2K0:
  • YLQPEEDV
  • DAGMKRALGRRK
  • PGFDWFFLD
  • LYKVLSSLGYHVVTFDYRGWGDS
  • ILYLHGNAGTRGGDHRV
  • PSERGMT
  • RSFRDFKVQF
  • SGIKFAND
  • YIWGHSLGTGVATNLVRRLC
  • SPELPRILREFLG
  • PYFIDLK
  • VWWKNAQGKDQMWYEDAL
  • TPPDALILESPFTNIREEAKSHPFS
  • LILHAEDD
  • DLGYRHKYIY
  • DQGLNHTCN

Post-translational modifications for ABHD12 Gene

  • Glycosylated; glycosylation is required for optimal activity.
  • Glycosylation at Asn123
  • Ubiquitination at Lys232 and Lys358
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • ABD12_HUMAN (1517)

Domains & Families for ABHD12 Gene

Gene Families for ABHD12 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ABHD12 Gene

Suggested Antigen Peptide Sequences for ABHD12 Gene

GenScript: Design optimal peptide antigens:
  • Abhydrolase domain-containing protein 12 (ABD12_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N2K0

UniProtKB/Swiss-Prot:

ABD12_HUMAN :
  • Belongs to the serine esterase family.
Family:
  • Belongs to the serine esterase family.
genes like me logo Genes that share domains with ABHD12: view

Function for ABHD12 Gene

Molecular function for ABHD12 Gene

UniProtKB/Swiss-Prot Function:
Lysophosphatidylserine (LPS) lipase that mediates the hydrolysis of lysophosphatidylserine, a class of signaling lipids that regulates immunological and neurological processes (PubMed:25290914, PubMed:30237167, PubMed:30420694, PubMed:30720278, PubMed:30643283). Represents a major lysophosphatidylserine lipase in the brain, thereby playing a key role in the central nervous system (By similarity). Also able to hydrolyze oxidized phosphatidylserine; oxidized phosphatidylserine is produced in response to severe inflammatory stress and constitutes a proapoptotic 'eat me' signal (PubMed:30643283). Also has monoacylglycerol (MAG) lipase activity: hydrolyzes 2-arachidonoylglycerol (2-AG), thereby acting as a regulator of endocannabinoid signaling pathways (PubMed:22969151, PubMed:24027063). Has a strong preference for very-long-chain lipid substrates; substrate specificity is likely due to improved catalysis and not improved substrate binding (PubMed:30237167).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-(9Z-octadecenoyl)-sn-glycero-3-phospho-L-serine + H2O = (9Z)-octadecenoate + H(+) + sn-glycero-3-phospho-L-serine; Xref=Rhea:RHEA:40499, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:64765, ChEBI:CHEBI:74617; Evidence={ECO:0000269|PubMed:25290914, ECO:0000269|PubMed:30237167};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-(9Z-octadecenoyl)-sn-glycero-3-phospho-(1'-sn-glycerol) + H2O = (9Z)-octadecenoate + H(+) + sn-glycero-3-phospho-(1'-sn-glycerol); Xref=Rhea:RHEA:44584, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:64717, ChEBI:CHEBI:72828; Evidence={ECO:0000250|UniProtKB:Q99LR1};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-(9Z-octadecenoyl)-sn-glycero-3-phospho-(1D-myo-inositol) + H2O = (9Z)-octadecenoate + H(+) + sn-glycero-3-phospho-1D-myo-inositol; Xref=Rhea:RHEA:44588, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:58444, ChEBI:CHEBI:78762; Evidence={ECO:0000250|UniProtKB:Q99LR1};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-(9Z-octadecenoyl)-sn-glycero-3-phosphoethanolamine + H2O = (9Z)-octadecenoate + H(+) + sn-glycero-3-phosphoethanolamine; Xref=Rhea:RHEA:40895, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30823, ChEBI:CHEBI:74971, ChEBI:CHEBI:143890; Evidence={ECO:0000250|UniProtKB:Q99LR1};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1-(9Z-octadecenoyl)-sn-glycero-3-phosphocholine + H2O = 1-(9Z-octadecenoyl)-sn-glycerol + H(+) + phosphocholine; Xref=Rhea:RHEA:41091, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:28610, ChEBI:CHEBI:75757, ChEBI:CHEBI:295975; Evidence={ECO:0000250|UniProtKB:Q99LR1};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-(9Z-octadecenoyl)-glycerol + H2O = (9Z)-octadecenoate + glycerol + H(+); Xref=Rhea:RHEA:38491, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:30823, ChEBI:CHEBI:73990; Evidence={ECO:0000269|PubMed:22969151, ECO:0000269|PubMed:30237167};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-hexadecanoyl-sn-glycero-3-phospho-L-serine + H2O = H(+) + hexadecanoate + sn-glycero-3-phospho-L-serine; Xref=Rhea:RHEA:44552, ChEBI:CHEBI:7896, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:64765, ChEBI:CHEBI:75020; Evidence={ECO:0000269|PubMed:30237167};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-glycerol + H2O = (5Z,8Z,11Z,14Z)-eicosatetraenoate + glycerol + H(+); Xref=Rhea:RHEA:26132, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:32395, ChEBI:CHEBI:52392; Evidence={ECO:0000269|PubMed:22969151, ECO:0000269|PubMed:30237167};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=Hydrolyzes glycerol monoesters of long-chain fatty acids.; EC=3.1.1.23; Evidence={ECO:0000269|PubMed:22969151, ECO:0000269|PubMed:30237167};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-decanoylglycerol + H2O = decanoate + glycerol + H(+); Xref=Rhea:RHEA:44320, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:27689, ChEBI:CHEBI:75547; Evidence={ECO:0000269|PubMed:22969151};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-dodecanoylglycerol + H2O = dodecanoate + glycerol + H(+); Xref=Rhea:RHEA:44316, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:18262, ChEBI:CHEBI:75539; Evidence={ECO:0000269|PubMed:22969151};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-tetradecanoylglycerol + H2O = glycerol + H(+) + tetradecanoate; Xref=Rhea:RHEA:44312, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:30807, ChEBI:CHEBI:75562; Evidence={ECO:0000269|PubMed:22969151};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-hexadecanoylglycerol + H2O = glycerol + H(+) + hexadecanoate; Xref=Rhea:RHEA:39963, ChEBI:CHEBI:7896, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:75455; Evidence={ECO:0000269|PubMed:22969151, ECO:0000269|PubMed:30237167};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-(9Z-octadecenoyl)-glycerol + H2O = (9Z)-octadecenoate + glycerol + H(+); Xref=Rhea:RHEA:38487, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:30823, ChEBI:CHEBI:75342; Evidence={ECO:0000269|PubMed:22969151, ECO:0000269|PubMed:30237167};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2-(9Z,12Z-octadecadienoyl)-glycerol + H2O = (9Z,12Z)-octadecadienoate + glycerol + H(+); Xref=Rhea:RHEA:44732, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:30245, ChEBI:CHEBI:75457; Evidence={ECO:0000269|PubMed:22969151};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-(5Z,8Z,11Z,14Z-eicosatetraenoyl)-glycerol + H2O = (5Z,8Z,11Z,14Z)-eicosatetraenoate + glycerol + H(+); Xref=Rhea:RHEA:44728, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:32395, ChEBI:CHEBI:75612; Evidence={ECO:0000269|PubMed:22969151, ECO:0000269|PubMed:25290914, ECO:0000269|PubMed:30237167};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-(9Z,12Z-octadecadienoyl)-glycerol + H2O = (9Z,12Z)-octadecadienoate + glycerol + H(+); Xref=Rhea:RHEA:48428, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:30245, ChEBI:CHEBI:75568; Evidence={ECO:0000269|PubMed:22969151, ECO:0000269|PubMed:25290914};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-hexadecanoylglycerol + H2O = glycerol + H(+) + hexadecanoate; Xref=Rhea:RHEA:39959, ChEBI:CHEBI:7896, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:69081; Evidence={ECO:0000269|PubMed:30237167};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-octadecanoylglycerol + H2O = glycerol + H(+) + octadecanoate; Xref=Rhea:RHEA:38363, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:17754, ChEBI:CHEBI:25629, ChEBI:CHEBI:75555; Evidence={ECO:0000269|PubMed:30237167};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-octadecanoyl-2-(9,10-epoxyoctadecanoyl)-sn-glycero-3-phospho-L-serine + H2O = 1-octadecanoyl-sn-glycero-3-phosphoserine + 9,10-epoxyoctadecanoate + H(+); Xref=Rhea:RHEA:59364, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:84467, ChEBI:CHEBI:85195, ChEBI:CHEBI:143087; Evidence={ECO:0000269|PubMed:30643283};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-octadecanoyl-2-(10-hydroxyoctadecanoyl)-sn-glycero-3-phospho-L-serine + H2O = 1-octadecanoyl-sn-glycero-3-phosphoserine + 10-hydroxyoctadecanoate + H(+); Xref=Rhea:RHEA:59368, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:84467, ChEBI:CHEBI:143088, ChEBI:CHEBI:143089; Evidence={ECO:0000269|PubMed:30643283};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-hexadecanoyl-2-(10-hydroxyoctadecanoyl)-sn-glycero-3-phospho-L-serine + H2O = 1-hexadecanoyl-sn-glycero-3-phospho-L-serine + 10-hydroxyoctadecanoate + H(+); Xref=Rhea:RHEA:59372, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:75020, ChEBI:CHEBI:143089, ChEBI:CHEBI:143094; Evidence={ECO:0000269|PubMed:30643283};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=117 uM for 2-arachidonoyglycerol {ECO:0000269|PubMed:22969151}; Vmax=42 nmol/min/mg enzyme toward 2-arachidonoyglycerol {ECO:0000269|PubMed:22969151}; pH dependence: Optimum pH is 7.2-9 with 2-arachidonoyglycerol as substrate. {ECO:0000269|PubMed:22969151};
UniProtKB/Swiss-Prot EnzymeRegulation:
Selectively inhibited by DO264 (N-3-pyridyl-N'-(1-[3-chloro-4-{2-chloro-4-(trifluoromethoxy)phenoxy}pyridine-2-yl]piperidin-4-yl)thiourea) (PubMed:30420694, PubMed:30720278). Reversibly inhibited by triterpenoids, but with rather low potency (PubMed:24879289).

Enzyme Numbers (IUBMB) for ABHD12 Gene

Phenotypes From GWAS Catalog for ABHD12 Gene

Gene Ontology (GO) - Molecular Function for ABHD12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004620 phospholipase activity IDA 30643283
GO:0004622 lysophospholipase activity IEA,IDA 25290914
GO:0008474 palmitoyl-(protein) hydrolase activity IBA 21873635
GO:0016787 hydrolase activity IEA --
GO:0047372 acylglycerol lipase activity IEA,IDA 22969151
genes like me logo Genes that share ontologies with ABHD12: view
genes like me logo Genes that share phenotypes with ABHD12: view

Human Phenotype Ontology for ABHD12 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ABHD12 Gene

MGI Knock Outs for ABHD12:

Animal Models for research

  • Taconic Biosciences Mouse Models for ABHD12

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABHD12

No data available for Transcription Factor Targets and HOMER Transcription for ABHD12 Gene

Localization for ABHD12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABHD12 Gene

Endoplasmic reticulum membrane. Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ABHD12 gene
Compartment Confidence
plasma membrane 5
peroxisome 2
cytosol 2
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for ABHD12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA,IDA 30237167
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA,IBA 21873635
genes like me logo Genes that share ontologies with ABHD12: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ABHD12 Gene

Pathways & Interactions for ABHD12 Gene

genes like me logo Genes that share pathways with ABHD12: view

Gene Ontology (GO) - Biological Process for ABHD12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002084 protein depalmitoylation IEA --
GO:0006629 lipid metabolic process IEA --
GO:0006660 phosphatidylserine catabolic process IBA,IDA 30643283
GO:0007628 adult walking behavior IEA --
GO:0009395 phospholipid catabolic process IDA 30237167
genes like me logo Genes that share ontologies with ABHD12: view

No data available for SIGNOR curated interactions for ABHD12 Gene

Drugs & Compounds for ABHD12 Gene

(2) Drugs for ABHD12 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Glycerol Approved, Investigational Pharma 207
Water Approved Pharma 0
genes like me logo Genes that share compounds with ABHD12: view

Transcripts for ABHD12 Gene

mRNA/cDNA for ABHD12 Gene

2 REFSEQ mRNAs :
8 NCBI additional mRNA sequence :
24 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABHD12

Alternative Splicing Database (ASD) splice patterns (SP) for ABHD12 Gene

No ASD Table

Relevant External Links for ABHD12 Gene

GeneLoc Exon Structure for
ABHD12

Expression for ABHD12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ABHD12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ABHD12 Gene

This gene is overexpressed in Nasal epithelium (35.6) and Bone (9.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ABHD12 Gene



Protein tissue co-expression partners for ABHD12 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ABHD12

SOURCE GeneReport for Unigene cluster for ABHD12 Gene:

Hs.441550

Evidence on tissue expression from TISSUES for ABHD12 Gene

  • Nervous system(4.9)
  • Pancreas(4.5)
  • Kidney(4.4)
  • Eye(3)
  • Thyroid gland(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ABHD12 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • immune
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • head
Limb:
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with ABHD12: view

Primer products for research

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ABHD12 Gene

Orthologs for ABHD12 Gene

This gene was present in the common ancestor of animals.

Orthologs for ABHD12 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ABHD12 29 30
  • 99.83 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ABHD12 29 30
  • 91.21 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ABHD12 29 30
  • 89.2 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Abhd12 29 16 30
  • 88.69 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Abhd12 29
  • 88.36 (n)
Oppossum
(Monodelphis domestica)
Mammalia ABHD12 30
  • 84 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ABHD12 30
  • 81 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ABHD12 29 30
  • 78.92 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ABHD12 30
  • 83 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia abhd12 29
  • 72.57 (n)
Str.13622 29
Zebrafish
(Danio rerio)
Actinopterygii abhd12 29 30
  • 67.5 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012189 29
  • 51.86 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG15111 29 30
  • 50.05 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea Y97E10AL.2 29 30
  • 48.67 (n)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 39 (a)
OneToMany
Species where no ortholog for ABHD12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ABHD12 Gene

ENSEMBL:
Gene Tree for ABHD12 (if available)
TreeFam:
Gene Tree for ABHD12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ABHD12: view image
Alliance of Genome Resources:
Additional Orthologs for ABHD12

Paralogs for ABHD12 Gene

Paralogs for ABHD12 Gene

(1) SIMAP similar genes for ABHD12 Gene using alignment to 7 proteins:

  • ABD12_HUMAN
  • I3L1V0_HUMAN
  • I3L206_HUMAN
  • I3L294_HUMAN
  • I3L380_HUMAN
  • I3L440_HUMAN
  • Q5T712_HUMAN
genes like me logo Genes that share paralogs with ABHD12: view

Variants for ABHD12 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ABHD12 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
1001548 Uncertain Significance: not provided 25,323,344(-) C/T
NM_001042472.3(ABHD12):c.403G>A (p.Asp135Asn)
MISSENSE
1001728 Uncertain Significance: not provided 25,390,570(-) G/C
NM_001042472.3(ABHD12):c.134C>G (p.Pro45Arg)
MISSENSE
1003378 Uncertain Significance: not provided 25,307,989(-) C/T
NM_001042472.3(ABHD12):c.844G>A (p.Ala282Thr)
MISSENSE
1008779 Uncertain Significance: not provided 25,302,301(-) C/T
NM_001042472.3(ABHD12):c.1075G>A (p.Val359Ile)
MISSENSE
1008795 Uncertain Significance: not provided 25,317,070(-) T/A
NM_001042472.3(ABHD12):c.551A>T (p.Asp184Val)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ABHD12 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ABHD12 Gene

Variant ID Type Subtype PubMed ID
dgv4290n100 CNV gain 25217958
dgv779e214 CNV gain 21293372
esv2722327 CNV deletion 23290073
esv3645582 CNV loss 21293372
esv3645583 CNV gain 21293372
esv3645584 CNV gain 21293372
esv3645585 CNV loss 21293372
nsv1067379 CNV gain 25217958
nsv1133502 CNV deletion 24896259
nsv522873 CNV gain 19592680
nsv585746 CNV gain 21841781
nsv833948 CNV loss 17160897
nsv962567 CNV duplication 23825009

Variation tolerance for ABHD12 Gene

Residual Variation Intolerance Score: 58.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.13; 51.32% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ABHD12 Gene

Human Gene Mutation Database (HGMD)
ABHD12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABHD12
Leiden Open Variation Database (LOVD)
ABHD12

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ABHD12 Gene

Disorders for ABHD12 Gene

MalaCards: The human disease database

(16) MalaCards diseases for ABHD12 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
  • pharc
cone dystrophy
  • retinal cone dystrophy
fundus dystrophy
  • retinal dystrophy
polyneuropathy
  • polyneuropathies
retinitis
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

ABD12_HUMAN
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) [MIM:612674]: A slowly progressive neurologic disorder with a variable phenotype resembling Refsum disease. Clinical features include sensorineural hearing loss, visual problems related to cataracts, retinitis pigmentosa, pes cavus, ataxic and/or spastic gait disturbances with a progressive sensorimotor peripheral neuropathy. Other features include hyporeflexia, hyperreflexia, extensor plantar responses. {ECO:0000269 PubMed:20797687, ECO:0000269 PubMed:22938382, ECO:0000269 PubMed:24027063, ECO:0000269 PubMed:24697911, ECO:0000269 PubMed:25743180, ECO:0000269 PubMed:27890673, ECO:0000269 PubMed:29571850}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for ABHD12

genes like me logo Genes that share disorders with ABHD12: view

No data available for Genatlas for ABHD12 Gene

Publications for ABHD12 Gene

  1. Biochemical characterization of the PHARC-associated serine hydrolase ABHD12 reveals its preference for very-long-chain lipids. (PMID: 30237167) Joshi A … Kamat SS (The Journal of biological chemistry 2018) 2 3 4
  2. Discovery of triterpenoids as reversible inhibitors of α/β-hydrolase domain containing 12 (ABHD12). (PMID: 24879289) Parkkari T … Laitinen JT (PloS one 2014) 2 3 4
  3. Biochemical and pharmacological characterization of the human lymphocyte antigen B-associated transcript 5 (BAT5/ABHD16A). (PMID: 25290914) Savinainen JR … Laitinen JT (PloS one 2014) 2 3 4
  4. Biochemical and pharmacological characterization of human α/β-hydrolase domain containing 6 (ABHD6) and 12 (ABHD12). (PMID: 22969151) Navia-Paldanius D … Laitinen JT (Journal of lipid research 2012) 2 3 4
  5. Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3. (PMID: 22938382) Eisenberger T … Bolz HJ (Orphanet journal of rare diseases 2012) 3 4 72

Products for ABHD12 Gene

Sources for ABHD12 Gene