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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ABHD12 Gene

protein-coding   GIFtS: 49
GCID: GC20M025275

Abhydrolase Domain Containing 12

(Previous name: chromosome 20 open reading frame 22)
(Previous symbol: C20orf22)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Abhydrolase Domain Containing 121 2     Chromosome 20 Open Reading Frame 221
C20orf221 2 3     ABHD12A2
Abhydrolase Domain-Containing Protein 122 3     BEM46L22
2-Arachidonoylglycerol Hydrolase2 3     dJ965G21.22
EC 3.1.1.233 8     Monoacylglycerol Lipase ABHD122
PHARC2 5     

External Ids:    HGNC: 158681   Entrez Gene: 260902   Ensembl: ENSG000001009977   OMIM: 6135995   UniProtKB: Q8N2K03   

Export aliases for ABHD12 gene to outside databases

Previous GC identifer: GC20M025224


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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. GO annotations related to this gene include acylglycerol lipase activity. An important paralog of this gene is ABHD12B.

UniProtKB/Swiss-Prot: ABD12_HUMAN, Q8N2K0
Function: Has 2-arachidonoylglycerol hydrolase activity (By similarity). May be a regulator of endocannabinoid
signaling pathways (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000020.10  NT_011387.8  NC_018931.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ABHD12 gene promoter:
         SRF   Egr-3   p53   Pax-5   SRF (504 AA)   Egr-1   CREB   deltaCREB   ZID   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidABHD12 promoter sequence
   Search SABiosciences Chromatin IP Primers for ABHD12

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ABHD12


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 20p11.21   Ensembl cytogenetic band:  20p11.21   HGNC cytogenetic band: 20p11.21

ABHD12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABHD12 gene location

GeneLoc information about chromosome 20         GeneLoc Exon Structure

GeneLoc location for GC20M025275:  view genomic region     (about GC identifiers)

Start:
25,275,379 bp from pter      End:
25,371,619 bp from pter
Size:
96,241 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ABD12_HUMAN, Q8N2K0 (See protein sequence)
Recommended Name: Monoacylglycerol lipase ABHD12  
Size: 398 amino acids; 45097 Da
Subcellular location: Membrane; Single-pass membrane protein (By similarity)
Secondary accessions: A6NED4 A6NJ90 A8K450 B4DE71 Q5T710 Q5T711 Q96CR1 Q9BX05 Q9NPX7 Q9UFV6
Alternative splicing: 3 isoforms:  Q8N2K0-1   Q8N2K0-2   Q8N2K0-3   

Explore the universe of human proteins at neXtProt for ABHD12: NX_Q8N2K0

Explore proteomics data for ABHD12 at MOPED 

Post-translational modifications:

  • UniProtKB: Glycosylated (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8N2K0

  • 4/16 DME Specific Peptides for ABHD12 (Q8N2K0) (see all 16)
     PSERGMT  PYFIDLK  YLQPEEDV  SGIKFAND 

    ABHD12 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ABHD12 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001035937.1  NP_056415.1  

    ENSEMBL proteins: 
     ENSP00000459278   ENSP00000365725   ENSP00000341408   ENSP00000459121   ENSP00000459495  
     ENSP00000460950   ENSP00000413311   ENSP00000460249  

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    Cloud-Clone Corp. Proteins for ABHD12 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane ----
    GO:0032281alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex IEA--

    ABHD12 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ABHD: Abhydrolase domain containing

    1 InterPro protein domain:
     IPR026605 ABHD12

    Graphical View of Domain Structure for InterPro Entry Q8N2K0

    ProtoNet protein and cluster: Q8N2K0

    UniProtKB/Swiss-Prot: ABD12_HUMAN, Q8N2K0
    Similarity: Belongs to the serine esterase family


    ABHD12 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ABD12_HUMAN, Q8N2K0
    Function: Has 2-arachidonoylglycerol hydrolase activity (By similarity). May be a regulator of endocannabinoid
    signaling pathways (By similarity)
    Catalytic activity: Hydrolyzes glycerol monoesters of long-chain fatty acids

         Enzyme Number (IUBMB): EC 3.1.1.231 2

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016787hydrolase activity ----
    GO:0047372acylglycerol lipase activity IEA--
         
    ABHD12 for ontologies           About GeneDecksing


    Phenotypes:
         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Abhd12):
     behavior/neurological  hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  immune system 
     muscle  nervous system  vision/eye 

    ABHD12 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Abhd12tm1Crv for ABHD12

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ABHD12 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ABHD12

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ABHD12 
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    miRNA
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    8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate ABHD12 (see all 9):
    hsa-miR-4264 hsa-miR-4324 hsa-miR-622 hsa-miR-516b* hsa-miR-548b-3p hsa-miR-3133 hsa-miR-544b hsa-miR-516a-3p
    SwitchGear 3'UTR luciferase reporter plasmidABHD12 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABHD12


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ABHD12 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1triacylglycerol degradation
    triacylglycerol degradation


    1 BioSystems Pathway for ABHD12
        triacylglycerol degradation


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ABHD12

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008152metabolic process ----

    ABHD12 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ABHD12 (ABD12)

    Search CenterWatch for drugs/clinical trials and news about ABHD12 / ABD12

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ABHD12 gene (2 alternative transcripts): 
    NM_001042472.2  NM_015600.4  

    Unigene Cluster for ABHD12:

    Abhydrolase domain containing 12
    Hs.441550  [show with all ESTs]
    Unigene Representative Sequence: NM_001042472
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000465694 ENST00000376542(uc002wuq.3) ENST00000339157(uc002wus.2)
    ENST00000576316 ENST00000481556 ENST00000491682 ENST00000471287 ENST00000450393
    ENST00000461204

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ABHD12
    8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate ABHD12 (see all 9):
    hsa-miR-4264 hsa-miR-4324 hsa-miR-622 hsa-miR-516b* hsa-miR-548b-3p hsa-miR-3133 hsa-miR-544b hsa-miR-516a-3p
    SwitchGear 3'UTR luciferase reporter plasmidABHD12 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ABHD12
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABHD12
    Sirion Biotech Customized lentivirus for stable overexpression of ABHD12 
                         Customized lentivirus expression plasmids for stable overexpression of ABHD12 
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ABHD12
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ABHD12

    Additional mRNA sequence: 

    AK075023.1 AK290815.1 AK293495.1 AL117442.1 BC014049.2 

    24/26 DOTS entries (see all 26):

    DT.100861819  DT.446010  DT.100059377  DT.100810079  DT.120832262  DT.100651896  DT.100651899  DT.92442437 
    DT.92442436  DT.100651895  DT.92442440  DT.100857755  DT.120832378  DT.100043897  DT.100667610  DT.100804020 
    DT.91663502  DT.92442439  DT.92442441  DT.95226911  DT.95228496  DT.95258608  DT.97825861  DT.100053528 

    24/357 AceView cDNA sequences (see all 357):

    BQ961645 CR612220 BX499380 CA489228 BM712011 CR617070 AA419213 CR604672 
    CR614685 BF590722 BU855292 BI820089 BQ948464 BQ881656 BM706106 BU558038 
    CR624082 AA479131 BQ672998 BU196124 CR600960 BG830232 BP346847 BM763510 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ABHD12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGAATGACT
    ABHD12 Expression
    About this image


    See ABHD12 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ABHD12

    SOURCE GeneReport for Unigene cluster: Hs.441550
        SABiosciences Custom PCR Arrays for ABHD12
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABHD12

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ABHD12 gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Abhd121 , 5 abhydrolase domain containing 121, 5 88.69(n)1
    93.22(a)1
      2 (74.74 cM)5
    761921  NM_024465.31  NP_077785.21 
     1508324935 
    chicken
    (Gallus gallus)
    Aves ABHD121 abhydrolase domain containing 12 79.09(n)
    85.56(a)
      421249  NM_001012871.1  NP_001012889.1 
    lizard
    (Anolis carolinensis)
    Reptilia ABHD126
    Uncharacterized protein
    82(a)
    1 ↔ 1
    1(254297985-254323490)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.136222 Transcribed sequence with moderate similarity to protein more 74.55(n)    BX734477.1 
    zebrafish
    (Danio rerio)
    Actinopterygii abhd121 abhydrolase domain containing 12 69.18(n)
    74.92(a)
      767657  NM_001076597.1  NP_001070065.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG151111 CG15111 50.26(n)
    43.65(a)
      37200  NM_137553.2  NP_611397.1 
    worm
    (Caenorhabditis elegans)
    Secernentea Y97E10AL.21 Protein Y97E10AL.2 48.46(n)
    41.21(a)
      179172  NM_072653.2  NP_505054.1 


    ENSEMBL Gene Tree for ABHD12 (if available)
    TreeFam Gene Tree for ABHD12 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ABHD12 gene
    ABHD12B2  
    1 SIMAP similar gene for ABHD12 using alignment to 7 protein entries:     ABD12_HUMAN (see all proteins):
    ABHD12B

    ABHD12 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2394 SNPs in ABHD12 are shown (see all 2394)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 20 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2009219701,2
    C--25225551(+) GGACCA/GACTTC 1 -- ds50010--------
    rs2001634721,2
    --25225564(+) GGTTG-/AGGTGG 1 -- ds50010--------
    rs130423371,2
    C,F--25225565(+) GGTTGG/AGTGGC 1 -- ds50012Minor allele frequency- A:0.31NA EU 1178
    rs130431831,2
    C,F--25225567(+) TTGGGT/GGGCTG 1 -- ds50013Minor allele frequency- G:0.32NA EU 1275
    rs2010860141,2
    --25225567(+) TTGGG-/TGGCTG 1 -- ds50010--------
    rs412823341,2
    C--25225585(+) GGGAGA/GGAGGG 1 -- ds50010--------
    rs25004281,2
    C,F--25225670(+) ACTGTG/CCCCAT 1 -- ds50014Minor allele frequency- C:0.24NA WA CSA 124
    rs733430811,2
    C,F--25225685(+) CCTTAC/GTGGGC 1 -- ds50012Minor allele frequency- G:0.06WA 120
    rs1153010161,2
    C,F--25225719(+) GTTTGC/TGATGG 1 -- ds50011Minor allele frequency- T:0.04WA 118
    rs22586711,2
    C,F--25225844(+) CCCAGG/AGGCAG 1 -- ds50013Minor allele frequency- A:0.10WA NA 122

    HapMap Linkage Disequilibrium report for ABHD12 (25275379 - 25371619 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for ABHD12:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2722327CNV Deletion23290073
    nsv912827CNV Loss21882294
    nsv833948CNV Loss17160897
    nsv522873CNV Gain19592680


    Human Gene Mutation Database (HGMD): ABHD12
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 613599   
    OMIM disorders: 612674  
    UniProtKB/Swiss-Prot: ABD12_HUMAN, Q8N2K0
  • 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. Note=The disease is caused by mutations affecting the
    gene represented in this entry

  • 11 diseases for ABHD12:    About MalaCards
    polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract    polyneuropathy    refsum disease    cataract
    retinitis pigmentosa    ataxia    retinitis    peripheral neuropathy
    sensorineural hearing loss    spasticity    neuropathy


    ABHD12 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): ABHD12

    Export disorders for ABHD12 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ABHD12 gene, integrated from 9 sources (see all 14):
    (articles sorted by number of sources associating them with ABHD12)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genome-wide association study identifies loci influenc ing concentrations of liver enzymes in plasma. (PubMed id 22001757)1, 4 Chambers J.C....Kooner J.S. (2011)
    2. Mutations in ABHD12 cause the neurodegenerative disea se PHARC: An inborn error of endocannabinoid metabolism. (PubMed id 20797687)1, 2 Fiskerstrand T....Knappskog P.M. (2010)
    3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. The DNA sequence and comparative analysis of human chromosome 20. (PubMed id 11780052)1, 2 Deloukas P....Rogers J. (2001)
    6. Polyneuropathy, hearing loss, ataxia, retinitis pigmen tosa and cataracts (PHARC) screening in an Italian population. (PubMed id 23490117)1 Criscuolo C....Filla A. (2013)
    7. Biochemical and pharmacological characterization of hu man a/b-hydrolase domain containing 6 (ABHD6) and 12 (ABHD12). (PubMed id 22969151)1 Navia-Paldanius D....Laitinen J.T. (2012)
    8. Targeted next-generation sequencing identifies a homoz ygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinic ally diagnosed with Usher syndrome type 3. (PubMed id 22938382)1 Eisenberger T....Bolz H.J. (2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    10. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 26090 HGNC: 15868 AceView: C20orf22 Ensembl:ENSG00000100997 euGenes: HUgn26090
    ECgene: ABHD12 H-InvDB: ABHD12

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ABHD12 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ABHD12 gene:
    Search GeneIP for patents involving ABHD12

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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