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Aliases for ABHD12 Gene

Aliases for ABHD12 Gene

  • Abhydrolase Domain Containing 12 2 3
  • Abhydrolase Domain-Containing Protein 12 3 4
  • 2-Arachidonoylglycerol Hydrolase 3 4
  • EC 3.1.1.23 4 63
  • C20orf22 3 4
  • PHARC 3 6
  • Chromosome 20 Open Reading Frame 22 2
  • Monoacylglycerol Lipase ABHD12 3
  • DJ965G21.2 3
  • ABHD12A 3
  • BEM46L2 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 triacylglycerol degradation. GO annotations related to this gene include 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 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

Genomic Location for ABHD12 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for ABHD12 Gene at MOPED

Post-translational modifications for ABHD12 Gene

Domains for ABHD12 Gene

Gene Families for ABHD12 Gene

HGNC:
  • ABHD :Abhydrolase domain containing

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 :
  • Q8N2K0
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:0016787 hydrolase activity --
GO:0047372 acylglycerol lipase activity IDA 22969151
genes like me logo Genes that share ontologies with ABHD12: view
genes like me logo Genes that share phenotypes with ABHD12: view

Animal Models for ABHD12 Gene

MGI Knock Outs for ABHD12:

miRNA for ABHD12 Gene

miRTarBase miRNAs that target ABHD12

No data available for Transcription Factor Targeting 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
Jensen Localization Image for ABHD12 Gene COMPARTMENTS Subcellular localization image for ABHD12 gene
Compartment Confidence
plasma membrane 3
peroxisome 2
cytosol 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ABHD12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016021 integral component of membrane ISS --
GO:0032281 alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex IEA --
genes like me logo Genes that share ontologies with ABHD12: view

Pathways for ABHD12 Gene

SuperPathways for ABHD12 Gene

Superpath Contained pathways
1 triacylglycerol degradation
genes like me logo Genes that share pathways with ABHD12: view

Pathways by source for ABHD12 Gene

1 BioSystems pathway for ABHD12 Gene

Interacting Proteins for ABHD12 Gene

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:0008152 metabolic process --
GO:0010996 response to auditory stimulus IEA --
GO:0046464 acylglycerol catabolic process IDA 22969151
genes like me logo Genes that share ontologies with ABHD12: view

Transcripts for ABHD12 Gene

Unigene Clusters for ABHD12 Gene

Abhydrolase domain containing 12:
Representative Sequences:

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 for ABHD12 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ABHD12 Gene

SOURCE GeneReport for Unigene cluster for ABHD12 Gene Hs.441550

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

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 35
  • 99.83 (n)
  • 100 (a)
ABHD12 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ABHD12 35
  • 89.2 (n)
  • 93.47 (a)
ABHD12 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ABHD12 35
  • 91.21 (n)
  • 94.22 (a)
ABHD12 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Abhd12 35
  • 88.69 (n)
  • 93.22 (a)
Abhd12 16
Abhd12 36
  • 91 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ABHD12 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABHD12 36
  • 81 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Abhd12 35
  • 88.36 (n)
  • 93.47 (a)
chicken
(Gallus gallus)
Aves ABHD12 35
  • 78.92 (n)
  • 85.3 (a)
ABHD12 36
  • 81 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ABHD12 36
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abhd12 35
  • 72.57 (n)
  • 78.65 (a)
Str.13622 35
zebrafish
(Danio rerio)
Actinopterygii abhd12 35
  • 67.5 (n)
  • 70.91 (a)
abhd12 36
  • 67 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012189 35
  • 51.86 (n)
  • 43.77 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG15111 35
  • 50.05 (n)
  • 42.86 (a)
CG15111 36
  • 31 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea Y97E10AL.2 35
  • 48.67 (n)
  • 41.21 (a)
Y97E10AL.2 36
  • 37 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 39 (a)
OneToMany
Species with no ortholog for ABHD12:
  • 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

Selected 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 MAF
rs9739 -- 25,300,591(+) AACAA(A/G)ATCTC utr-variant-3-prime, intron-variant
rs10966 Likely benign 25,302,308(+) TTGAA(A/G)TCTCG synonymous-codon, reference, intron-variant
rs11100 -- 25,300,548(-) GCCTG(C/G)TTGAT utr-variant-3-prime, intron-variant
rs736358 -- 25,302,814(-) GCCAC(A/G)CAGGG intron-variant, downstream-variant-500B
rs746748 Likely benign, - 25,302,331(+) TGGTG(C/T)GGCGA missense, reference, intron-variant

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

Variant ID Type Subtype PubMed ID
nsv522873 CNV Gain 19592680
nsv833948 CNV Loss 17160897
nsv912827 CNV Loss 21882294
esv2722327 CNV Deletion 23290073

Relevant External Links for ABHD12 Gene

HapMap Linkage Disequilibrium report
ABHD12
Human Gene Mutation Database (HGMD)
ABHD12

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

Disorders for ABHD12 Gene

(1) OMIM Diseases for ABHD12 Gene (613599)

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

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
  2. 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 48
  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
  4. 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
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for ABHD12 Gene

Sources for ABHD12 Gene

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