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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 56
  • 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 Fundus Dystrophy. Among its related pathways are triacylglycerol degradation and Response to elevated platelet cytosolic Ca2+. 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 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.

Additional gene information for ABHD12 Gene

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

GeneHancer (GH) Regulatory Elements for ABHD12 Gene

Promoters and enhancers for ABHD12 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20I025389 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 587.2 +0.5 466 2.6 FOXA2 MLX ARID4B SIN3A DMAP1 YY1 POLR2B ZNF143 SP3 SP5 ABHD12 PPIAP2
GH20I025245 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 37.1 +142.3 142304 6 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 PYGB LOC105372580 ABHD12 ENTPD6 ZNF337 FAM182A FAM182B ENSG00000274507
GH20I025317 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 51.2 +72.4 72405 3 PKNOX1 EBF1 IRF4 RELA POLR2A ATF7 ZSCAN29 BCLAF1 IKZF2 RUNX3 ABHD12 ACSS1 ZNF337 NANP GC20P025297 GC20P025348
GH20I025406 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 32.4 -17.2 -17230 2.5 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B YY1 SLC30A9 POLR2B PIR61298 LOC105372581 GINS1 ABHD12 NANP PYGB ZNF337 FAM182B ZNF337-AS1
GH20I025232 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 37.5 +154.5 154463 7.8 PKNOX1 FOXA2 ARNT ARID4B NEUROD1 SIN3A FEZF1 ZNF2 YY1 ZNF766 LOC105372579 ABHD12 ZNF337 ZNF337-AS1 NANP PYGB NINL ENTPD6 FAM182B FAM182A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ABHD12 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ABHD12 gene promoter:

Genomic Locations for ABHD12 Gene

Genomic Locations for ABHD12 Gene
chr20:25,294,743-25,390,983
(GRCh38/hg38)
Size:
96,241 bases
Orientation:
Minus strand
chr20:25,275,379-25,371,619
(GRCh37/hg19)

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

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:

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

Phenotypes From GWAS Catalog 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:0008474 palmitoyl-(protein) hydrolase activity IEA --
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

Clone 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:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,ISS --
GO:0032281 AMPA glutamate receptor complex IEA --
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: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
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 175
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:

Clone 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

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 33 34
  • 99.83 (n)
dog
(Canis familiaris)
Mammalia ABHD12 33 34
  • 91.21 (n)
cow
(Bos Taurus)
Mammalia ABHD12 33 34
  • 89.2 (n)
mouse
(Mus musculus)
Mammalia Abhd12 16 34 33
  • 88.69 (n)
rat
(Rattus norvegicus)
Mammalia Abhd12 33
  • 88.36 (n)
oppossum
(Monodelphis domestica)
Mammalia ABHD12 34
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ABHD12 34
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves ABHD12 33 34
  • 78.92 (n)
lizard
(Anolis carolinensis)
Reptilia ABHD12 34
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia abhd12 33
  • 72.57 (n)
Str.13622 33
zebrafish
(Danio rerio)
Actinopterygii abhd12 33 34
  • 67.5 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP012189 33
  • 51.86 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG15111 33 34
  • 50.05 (n)
worm
(Caenorhabditis elegans)
Secernentea Y97E10AL.2 33 34
  • 48.67 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 Variation AA Info Type
rs1046073 benign, Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC) 25,300,697(-) G/A 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant
rs10966 conflicting-interpretations-of-pathogenicity, benign, not specified, Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC) 25,302,308(-) A/G coding_sequence_variant, genic_downstream_transcript_variant, synonymous_variant
rs11100 benign, Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC) 25,300,548(-) G/C 3_prime_UTR_variant, genic_downstream_transcript_variant, intron_variant
rs11904930 uncertain-significance, Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC) 25,339,341(-) C/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs140967031 uncertain-significance, Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC) 25,339,340(-) A/G 5_prime_UTR_variant, coding_sequence_variant, missense_variant

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

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: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
  • pharc
fundus dystrophy
  • retinal dystrophy
polyneuropathy
  • polyneuropathies
sjogren-larsson syndrome
  • sls
sengers syndrome
  • mitochondrial dna depletion syndrome 10 ; mtdps10
- 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.

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 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 58
  2. Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effects. (PMID: 24027063) Chen DH … Bird TD (Human mutation 2013) 3 4 58
  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 HJ (Orphanet journal of rare diseases 2012) 3 4 58
  4. Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. (PMID: 22001757) Chambers JC … Kooner JS (Nature genetics 2011) 3 44 58
  5. Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism. (PMID: 20797687) Fiskerstrand T … Knappskog PM (American journal of human genetics 2010) 3 4 58

Products for ABHD12 Gene

Sources for ABHD12 Gene

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