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

ABHD3 Gene

protein-coding   GIFtS: 47
GCID: GC18M019230

abhydrolase domain containing 3

  Search for ABHD3
in our new
 Human Malady Compendium 
Biological research products
for ABHD3
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Abhydrolase Domain Containing 31 2     Alpha/Beta Hydrolase Domain Containing Protein 32
LABH31 2 3 5     EC 3.1.1.-3
Lung Alpha/Beta Hydrolase 32 3     EC 3.1.18
Abhydrolase Domain-Containing Protein 32     

External Ids:    HGNC: 187181   Entrez Gene: 1715862   Ensembl: ENSG000001582017   OMIM: 6121975   UniProtKB: Q8WU673   

Export aliases for ABHD3 gene to outside databases

Previous GC identifers: GC18M019106 GC18M018961 GC18M017482 GC18M017484 GC18M016077


(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 ABHD3:
This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a very wide
range of enzymes. The function of this protein has not been determined. (provided by RefSeq, Jul 2008)




(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NC_018929.1  NT_010966.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ABHD3 gene promoter:
         RFX1   FOXF2   AML1a   Lmo2   c-Ets-1   E47   STAT3   FOXO1a   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidABHD3 promoter sequence
   Search SABiosciences Chromatin IP Primers for ABHD3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ABHD3


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

Entrez Gene cytogenetic band: 18q11.2   Ensembl cytogenetic band:  18q11.2   HGNC cytogenetic band: 18q11.1

ABHD3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABHD3 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M019230:  view genomic region     (about GC identifiers)

Start:
19,230,858 bp from pter      End:
19,284,766 bp from pter
Size:
53,909 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ABHD3_HUMAN, Q8WU67 (See protein sequence)
Recommended Name: Abhydrolase domain-containing protein 3  
Size: 409 amino acids; 46009 Da
Subcellular location: Membrane; Single-pass type II membrane protein (Potential)
Sequence caution: Sequence=AAC19155.1; Type=Erroneous initiation;
Secondary accessions: B0YIV0 O43411

Explore the universe of human proteins at neXtProt for ABHD3: NX_Q8WU67

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q8WU67

  • 4 DME Specific Peptides for ABHD3 (Q8WU67)
     LLPGLTG  VVFNNRG  NTEDLETV  GGHIGFLEG 

    ABHD3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_612213.2  
    ENSEMBL proteins: 
     ENSP00000289119   ENSP00000462935   ENSP00000462578   ENSP00000463996   ENSP00000463365  
     ENSP00000463848  

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    Uscn Proteins for ABHD3

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0016021integral to membrane IEA--


    ABHD3 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ABHD3 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR000952 UPF0017_hydro-like_CS
     IPR012020 AB-Hydro_YheT

    Graphical View of Domain Structure for InterPro Entry Q8WU67

    ProtoNet protein and cluster: Q8WU67

    1 Blocks protein family: IPB000952 Protein of unknown function UPF0017

    UniProtKB/Swiss-Prot: ABHD3_HUMAN, Q8WU67
    Similarity: Belongs to the AB hydrolase superfamily. AB hydrolase 4 family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Enzyme Numbers (IUBMB): EC 3.1.12 EC 3.1.1.-1

    miRNA
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    hsa-miR-3910 hsa-miR-125a-5p hsa-miR-520e hsa-miR-302d hsa-miR-302e hsa-miR-301a hsa-miR-519a hsa-miR-520a-3p
    SwitchGear 3'UTR luciferase reporter plasmidABHD3 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ABHD3 (see all 7)
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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABHD3

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0004091carboxylesterase activity IEA--


    ABHD3 for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ABHD3

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for ABHD3 (ENSP000002891194) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--


    ABHD3 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 ABHD3
    Search CenterWatch for drugs/clinical trials and news about ABHD3 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ABHD3 gene: 
    NM_138340.4  

    Unigene Cluster for ABHD3:

    Abhydrolase domain containing 3
    Hs.397978  [show with all ESTs]
    Unigene Representative Sequence: CR627346
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000289119(uc002ktl.2) ENST00000580981 ENST00000578270(uc002ktk.2)
    ENST00000577564(uc002ktn.2) ENST00000580477 ENST00000577891(uc010xao.1)
    ENST00000579875 ENST00000584464 ENST00000577928 ENST00000579982

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ABHD3
    8/31 QIAGEN miScript miRNA Assays for microRNAs that regulate ABHD3 (see all 31):
    hsa-miR-3910 hsa-miR-125a-5p hsa-miR-520e hsa-miR-302d hsa-miR-302e hsa-miR-301a hsa-miR-519a hsa-miR-520a-3p
    SwitchGear 3'UTR luciferase reporter plasmidABHD3 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ABHD3 (see all 7)
    OriGene shRNA RFP: ABHD3
    OriGene siRNA: ABHD3
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ABHD3
    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ABHD3
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    Additional cDNA sequence: 

    AF007152.1 AK024880.1 AK024992.1 AK298728.1 BC021196.2 CR627346.1 

    14 DOTS entries:

    DT.453358  DT.40298855  DT.100651265  DT.95179321  DT.100856122  DT.100862936  DT.40214102  DT.40293362 
    DT.65287271  DT.92428257  DT.95179317  DT.100651266  DT.121102891  DT.92051954 

    24/173 AceView cDNA sequences (see all 173):

    BM831450 BM821534 BX106354 AI638132 AA235139 AW444800 AW512092 N63502 
    BQ953911 BI518464 BX415936 NM_138340 CB154907 CR605248 CD365978 BG547174 
    BM791795 CA430829 BM791740 BQ942974 AI376360 AI627632 BM923134 CA407842 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for ABHD3 (see all 7)    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c
    SP1:                          -           -           -     -                                             
    SP2:                          -           -     -                                                         
    SP3:                          -     -     -     -     -     -                                             
    SP4:                          -           -                                                               
    SP5:                                                  -     -                                             


    ECgene alternative splicing isoforms for ABHD3

    (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

    ABHD3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CTTATTTTTA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    ABHD3 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    3 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeInner Nuclear LayerType1 Off Cone Bipolar CellsBipolar, Retina
    BrainChoroid PlexusBrain
    Neural TubeMetencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ABHD3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ABHD3

    SOURCE GeneReport for Unigene cluster: Hs.397978
        SABiosciences Custom PCR Arrays for ABHD3
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABHD3

    (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 last universal common ancestor (LUCA).

    Orthologs for ABHD3 gene from 9/28 species (see all 28)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves ABHD31 abhydrolase domain containing 3 78.58(n)
    81.14(a)
      421068  XM_419156.3  XP_419156.2 
    lizard
    (Anolis carolinensis)
    Reptilia ABHD36
    --
    71(a)
    1 ↔ 1
    4(38903910-38928855)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.114892 Xenopus laevis transcribed sequence with weak similarity more 76.07(n)    AW637354.1 
    zebrafish
    (Danio rerio)
    Actinopterygii abhd31 abhydrolase domain containing 3 65.61(n)
    66.75(a)
      447830  NM_001004569.1  NP_001004569.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Hydr11 alpha/beta hydrolase 1 48.13(n)
    42.19(a)
      35930  NM_165653.2  NP_724757.2 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_Y60A3A.71 Protein Y60A3A.7 45.45(n)
    33.72(a)
      180309  NM_075462.4  NP_507863.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G507901 esterase/lipase/thioesterase family protein 46.38(n)
    35.2(a)
      824243  NM_114939.2  NP_190648.1 
    rice
    (Oryza sativa)
    Liliopsida Os02g06494001 hypothetical protein 46.62(n)
    36.36(a)
      4330156  NM_001054118.2  NP_001047583.2 
    E. coli
    (Escherichia coli)
    Gamma proteobacteria yheT6
    predicted hydrolase
    22(a)
    possible ortholog
    Chromosome(3481224-3482246)


    ENSEMBL Gene Tree for ABHD3 (if available)
    TreeFam Gene Tree for ABHD3 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ABHD3 gene
    ABHD12  ABHD152  ABHD22  
    1 SIMAP similar gene for ABHD3 using alignment to 6 protein entries:     ABHD3_HUMAN (see all proteins):
    ABHD1

    ABHD3 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/857 NCBI SNPs in ABHD3 are shown (see all 857    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1499526891,2
    C,--19230402(+) ATGGA-/TTTGTAA 1 -- int10--------
    rs734277721,2
    C,--19230521(+) AGCCAT/CCCTGT 1 -- int13Minor allele frequency- C:0.16WA NA 240
    rs1506370731,2
    --19230683(+) TTAGGG/TTTCCT 1 -- int10--------
    rs1867415411,2
    --19230819(+) GATTAC/GTTTCT 1 -- int10--------
    rs1386186091,2
    C,--19230960(+) ACATA-/AGTT  
            
    AGTCC
    1 -- ut310--------
    rs1391689521,2
    --19231065(+) TAGCAC/TGTTGT 1 -- ut310--------
    rs766819151,2
    F,--19231128(+) AATGTA/GCCACC 1 -- ut311Minor allele frequency- G:0.03EA 120
    rs1440961051,2
    --19231281(+) TAAGTG/TCAATT 1 -- ut310--------
    rs1907393441,2
    --19231463(+) TATTTG/TCTTTA 1 -- ut310--------
    rs1461997751,2
    C--19231613(+) GATCCA/GTGTAA 2 T M mis11Minor allele frequency- G:0.00NA 4550

    HapMap Linkage Disequilibrium report for ABHD3 (19230858 - 19284766 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for ABHD3
         1 CNV: 23320

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for ABHD3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ABHD3 for disorders           About MalaCards

    ABHD3 for disorders           About GeneDecksing

    OMIM gene information: 612197    OMIM disorders: --


    Export disorders for ABHD3 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 ABHD3 gene, integrated from 9 sources (see all 11):
    (articles sorted by number of sources associating them with ABHD3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. Genome-wide association study identifies novel loci as sociated with circulating phospho- and sphingolipid concentrations. (PubMed id 22359512)1 Demirkan A....Schmitz G. (2012)
    3. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    4. 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)
    5. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PubMed id 17207965)1 Lamesch P.... Vidal M. (2007)
    6. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    8. Cloning and tissue distribution of three murine alpha/beta hydrolase fold protein cDNAs. (PubMed id 11922611)1 Edgar A.J. and Polak J.M. (2002)
    9. Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )2 Aoki H.... Hino O. (2000)
    10. Large-scale concatenation cDNA sequencing. (PubMed id 9110174)1 Yu W.... Gibbs R.A. (1997)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 171586 HGNC: 18718 AceView: ABHD3 Ensembl:ENSG00000158201 euGenes: HUgn171586
    ECgene: ABHD3 H-InvDB: ABHD3

    (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 ABHD3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ABHD3 gene:
    Search GeneIP for patents involving ABHD3

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