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Aliases for ABHD12 Gene

Aliases for ABHD12 Gene

  • Abhydrolase Domain Containing 12 2 3 5
  • Abhydrolase Domain-Containing Protein 12 3 4
  • 2-Arachidonoylglycerol Hydrolase 3 4
  • EC 3.1.1.23 4 61
  • C20orf22 3 4
  • Chromosome 20 Open Reading Frame 22 2
  • Monoacylglycerol Lipase ABHD12 3
  • DJ965G21.2 3
  • ABHD12A 3
  • BEM46L2 3
  • 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) is a Protein Coding gene. Diseases associated with ABHD12 include Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract and Polyneuropathy. Among its related pathways are Effects of PIP2 hydrolysis and RET signaling. GO annotations related to this gene include hydrolase activity and acylglycerol lipase activity. An important paralog of this gene is ABHD12B.

UniProtKB/Swiss-Prot for ABHD12 Gene

  • Lysophosphatidylserine (LPS) lipase that plays a key role in the central nervous system. Represents a major LPS lipase in the brain (By similarity). May also have a 2-arachidonoylglycerol (2-AG) hydrolase activity and act as a regulator of endocannabinoid signaling pathways.

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ABHD12 Gene

Genomics for ABHD12 Gene

Regulatory Elements for ABHD12 Gene

Enhancers for ABHD12 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH20G025317 1.7 FANTOM5 Ensembl ENCODE dbSUPER 51.2 +72.4 72405 3.0 TBP PKNOX1 GLIS2 RELB IKZF2 CREM EGR2 CBFB USF2 GATAD2B ABHD12 ACSS1 ZNF337 NANP GC20P025297 GC20P025348
GH20G025232 2 FANTOM5 Ensembl ENCODE dbSUPER 37.5 +154.5 154463 7.8 PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF766 ZNF207 ABHD12 PYGB ENTPD6 FAM182B FAM182A LOC100134868 NINL LOC105372579 ENSG00000277938
GH20G025245 1.7 FANTOM5 ENCODE dbSUPER 37.1 +142.3 142305 6.0 HDGF HNRNPUL1 PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A DMAP1 FEZF1 PYGB ABHD12 ENTPD6 ZNF337 FAM182A FAM182B ENSG00000274507
GH20G025307 1.6 Ensembl ENCODE dbSUPER 38 +80.8 80763 4.5 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 YBX1 ZNF2 ABHD12 PYGB ENTPD6 ZNF337 FAM182B ACSS1 NANP ZNF337-AS1 GC20P025297 GC20P025348
GH20G025293 1.5 Ensembl ENCODE dbSUPER 39.2 +95.2 95178 4.7 PKNOX1 ARID4B SIN3A YBX1 DMAP1 ZNF48 GLIS2 ZNF143 PAF1 SP5 ABHD12 PYGB ZNF337 NINL ZNF337-AS1 PIR34275 PIR48093
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ABHD12 on UCSC Golden Path with GeneCards custom track

Promoters for ABHD12 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000135842 383 2401 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 ZNF143 ZNF263 SP3 SP5

Genomic Location for ABHD12 Gene

Chromosome:
20
Start:
25,294,743 bp from pter
End:
25,390,983 bp from pter
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:
    Monoacylglycerol 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

Domains & Families for ABHD12 Gene

Gene Families for ABHD12 Gene

Protein Domains for ABHD12 Gene

Suggested Antigen Peptide Sequences for ABHD12 Gene

GenScript: Design optimal peptide antigens:

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 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 CatalyticActivity:
Hydrolyzes glycerol monoesters of long-chain fatty acids.
UniProtKB/Swiss-Prot Function:
Lysophosphatidylserine (LPS) lipase that plays a key role in the central nervous system. Represents a major LPS lipase in the brain (By similarity). May also have a 2-arachidonoylglycerol (2-AG) hydrolase activity and act as a regulator of endocannabinoid signaling pathways.

Enzyme Numbers (IUBMB) for ABHD12 Gene

Gene Ontology (GO) - Molecular Function for ABHD12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004622 lysophospholipase activity IDA 25290914
GO:0016787 hydrolase activity IEA --
GO:0047372 acylglycerol lipase activity TAS,IEA --
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 Model Products

  • Taconic Biosciences Mouse Models for ABHD12

CRISPR Products

Inhibitory RNA Products

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

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
mitochondrion 1
cytosol 1

Gene Ontology (GO) - Cellular Components for ABHD12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane ISS,IEA --
GO:0032281 AMPA glutamate receptor complex IEA --
genes like me logo Genes that share ontologies with ABHD12: view

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:0006660 phosphatidylserine catabolic process IEA --
GO:0007628 adult walking behavior IEA --
GO:0010996 response to auditory stimulus IEA --
GO:0046464 acylglycerol catabolic process IDA 22969151
GO:0046475 glycerophospholipid catabolic process IDA 25290914
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, Experimental Pharma 238
Water Approved Pharma 0
genes like me logo Genes that share compounds with ABHD12: view

Transcripts for ABHD12 Gene

Unigene Clusters for ABHD12 Gene

Abhydrolase domain containing 12:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

No ASD Table

Relevant External Links for ABHD12 Gene

GeneLoc Exon Structure for
ABHD12
ECgene alternative splicing isoforms for
ABHD12

Expression for ABHD12 Gene

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

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

NURSA nuclear receptor signaling pathways regulating expression of ABHD12 Gene:

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(4.4)
  • Kidney(4.3)
  • Eye(2.4)

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

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • immune
  • nervous
  • skeletal muscle
  • skeleton
Organs:
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

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , 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 34 35
  • 99.83 (n)
dog
(Canis familiaris)
Mammalia ABHD12 34 35
  • 91.21 (n)
cow
(Bos Taurus)
Mammalia ABHD12 34 35
  • 89.2 (n)
mouse
(Mus musculus)
Mammalia Abhd12 34 16 35
  • 88.69 (n)
rat
(Rattus norvegicus)
Mammalia Abhd12 34
  • 88.36 (n)
oppossum
(Monodelphis domestica)
Mammalia ABHD12 35
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABHD12 35
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABHD12 34 35
  • 78.92 (n)
lizard
(Anolis carolinensis)
Reptilia ABHD12 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abhd12 34
  • 72.57 (n)
Str.13622 34
zebrafish
(Danio rerio)
Actinopterygii abhd12 34 35
  • 67.5 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012189 34
  • 51.86 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG15111 34 35
  • 50.05 (n)
worm
(Caenorhabditis elegans)
Secernentea Y97E10AL.2 34 35
  • 48.67 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 39 (a)
OneToMany
Species where no ortholog for ABHD12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for ABHD12 Gene

Paralogs for ABHD12 Gene

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

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

Variants for ABHD12 Gene

Sequence variations from dbSNP and Humsavar for ABHD12 Gene

SNP ID Clin Chr 20 pos Sequence Context AA Info Type
rs267606624 Pathogenic 25,302,322(-) CAGCT(C/T)GAAGC reference, stop-gained
rs387906217 Pathogenic 25,323,409(-) TCATT(-/GA/TTT)TTTGA reference, frameshift-variant, utr-variant-5-prime
rs397704714 Pathogenic 25,307,980(-) AGAGC(-/TAAGAGC)CATCC reference, frameshift-variant
rs587777602 Pathogenic 25,302,260(+) TATTT(C/G)TGCCT reference, missense
rs587777603 Pathogenic 25,320,264(+) TCATA(C/T)CACAT intron-variant, reference, stop-gained

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)

Relevant External Links for ABHD12 Gene

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

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

Disorders for ABHD12 Gene

MalaCards: The human disease database

(8) MalaCards diseases for ABHD12 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
  • pharc syndrome
polyneuropathy
  • polyneuropathies
sjogren-larsson syndrome
  • sjogren larsson syndrome
sengers syndrome
  • mitochondrial dna depletion syndrome 10
cataract
- 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}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ABHD12

Genetic Association Database (GAD)
ABHD12
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 and pharmacological characterization of human I+/I^-hydrolase domain containing 6 (ABHD6) and 12 (ABHD12). (PMID: 22969151) Navia-Paldanius D. … Laitinen J.T. (J. Lipid Res. 2012) 2 3 4 64
  2. Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects. (PMID: 24027063) Chen D.H. … Bird T.D. (Hum. Mutat. 2013) 3 4 64
  3. 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 H.J. (Orphanet J Rare Dis 2012) 3 4 64
  4. Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. (PMID: 22001757) Chambers J.C. … Kooner J.S. (Nat. Genet. 2011) 3 46 64
  5. Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism. (PMID: 20797687) Fiskerstrand T. … Knappskog P.M. (Am. J. Hum. Genet. 2010) 3 4 64

Products for ABHD12 Gene

Sources for ABHD12 Gene

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