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

USP46 Gene

protein-coding   GIFtS: 56
GCID: GC04M053376

Ubiquitin Specific Peptidase 46

(Previous name: ubiquitin specific protease 46)
  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
Ubiquitin Specific Peptidase 461 2     Ubiquitin Carboxyl-Terminal Hydrolase 462
Ubiquitin Specific Protease 461 2     Ubiquitin Thiolesterase 462
Deubiquitinating Enzyme 462 3     EC 3.4.19.123
Ubiquitin Thioesterase 462 3     EC 3.1.2.158
Ubiquitin-Specific-Processing Protease 462 3     

External Ids:    HGNC: 200751   Entrez Gene: 648542   Ensembl: ENSG000001091897   OMIM: 6128495   UniProtKB: P620683   

Export aliases for USP46 gene to outside databases

Previous GC identifers: GC04M053311 GC04M053302 GC04M053155 GC04M049398


(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 USP46 Gene:
Modification of cellular proteins by ubiquitin is an essential regulatory mechanism controlled by the coordinated
action of multiple ubiquitin-conjugating and deubiquitinating enzymes. USP46 belongs to a large family of
cysteine proteases that function as deubiquitinating enzymes (Quesada et al., 2004 (PubMed 14715245)).(supplied
by OMIM, Jun 2009)

GeneCards Summary for USP46 Gene: 
USP46 (ubiquitin specific peptidase 46) is a protein-coding gene. Diseases associated with USP46 include major depressive disorder, and bipolar disorder. GO annotations related to this gene include ubiquitin-specific protease activity and ubiquitin thiolesterase activity. An important paralog of this gene is USP35.

UniProtKB/Swiss-Prot: UBP46_HUMAN, P62068
Function: Deubiquitinating enzyme that plays a role in behavior, possibly by regulating GABA action. May act by
mediating the deubiquitination of GAD1/GAD67. Has almost no deubiquitinating activity by itself and requires the
interaction with WDR48 to have a high activity. Not involved in deubiquitination of monoubiquitinated FANCD2




(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_000004.11  NT_022853.15  NC_018915.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the USP46 gene promoter:
         S8   AML1a   Nkx2-2   Cdc5   POU3F2   YY1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUSP46 promoter sequence
   Search SABiosciences Chromatin IP Primers for USP46

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat USP46


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

Entrez Gene cytogenetic band: 4q12   Ensembl cytogenetic band:  4q12   HGNC cytogenetic band: 4q12

USP46 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
USP46 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M053376:  view genomic region     (about GC identifiers)

Start:
53,457,126 bp from pter      End:
53,525,502 bp from pter
Size:
68,377 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: UBP46_HUMAN, P62068 (See protein sequence)
Recommended Name: Ubiquitin carboxyl-terminal hydrolase 46  
Size: 366 amino acids; 42442 Da
Subunit: Interacts with WDR48
Secondary accessions: B7Z3Y7 B7Z675 B7Z7S3 G8ACC7 Q80V95 Q9H7U4 Q9H9T8
Alternative splicing: 4 isoforms:  P62068-1   P62068-2   P62068-3   P62068-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for USP46: NX_P62068

Explore proteomics data for USP46 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P62068

  • 4/17 DME Specific Peptides for USP46 (P62068) (see all 17)
     QEAQKRM  KQEKQNG  TCLADLF  IGPEQFP 

    USP46 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    USP46 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001127695.1  NP_073743.2  

    ENSEMBL proteins: 
     ENSP00000407818   ENSP00000390102   ENSP00000422018   ENSP00000426970   ENSP00000423244  
     ENSP00000425806  

    Human Recombinant Protein Products for USP46: 
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    OriGene Protein Over-expression Lysate for USP46
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    Novus Biologicals USP46 Proteins
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    Sino Biological Recombinant Protein for USP46
    Sino Biological Cell Lysate for USP46 
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    Cloud-Clone Corp. Proteins for USP46 


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    Assay Products for USP46: 
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    Cloud-Clone Corp. ELISAs for USP46 
    Cloud-Clone Corp. CLIAs for USP46


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    USP: Ubiquitin-specific peptidases

    2 InterPro protein domains:
     IPR001394 Peptidase_C19
     IPR018200 Pept_C19ubi-hydrolase_C_CS

    Graphical View of Domain Structure for InterPro Entry P62068

    ProtoNet protein and cluster: P62068

    1 Blocks protein domain: IPB001394 Ubiquitin thiolesterase

    UniProtKB/Swiss-Prot: UBP46_HUMAN, P62068
    Similarity: Belongs to the peptidase C19 family. USP12/USP46 subfamily


    USP46 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: UBP46_HUMAN, P62068
    Function: Deubiquitinating enzyme that plays a role in behavior, possibly by regulating GABA action. May act by
    mediating the deubiquitination of GAD1/GAD67. Has almost no deubiquitinating activity by itself and requires the
    interaction with WDR48 to have a high activity. Not involved in deubiquitination of monoubiquitinated FANCD2
    Catalytic activity: Thiol-dependent hydrolysis of ester, thioester, amide, peptide and isopeptide bonds formed by
    the C-terminal Gly of ubiquitin (a 76-residue protein attached to proteins as an intracellular targeting signal)

         Enzyme Numbers (IUBMB): EC 3.1.2.152 EC 3.4.19.121

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004221ubiquitin thiolesterase activity IDA19075014
    GO:0004843ubiquitin-specific protease activity IDA19075014
    GO:0005515protein binding IPI19075014
         
    USP46 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 2 alleles(MGI details for Usp46):
     behavior/neurological 

    USP46 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for USP46 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for USP46

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for USP46 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for USP46 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat USP46
    8/171 QIAGEN miScript miRNA Assays for microRNAs that regulate USP46 (see all 171):
    hsa-miR-520f hsa-miR-106a hsa-miR-128 hsa-miR-877* hsa-miR-409-5p hsa-miR-200b hsa-miR-130b hsa-miR-761
    SwitchGear 3'UTR luciferase reporter plasmidUSP46 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): USP46 (NM_001134223)
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for USP46
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                         Customized lentivirus expression plasmids for stable overexpression of USP46 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for USP46


    (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 USP46 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Ubiquitin-Proteasome Dependent Proteolysis
    Ubiquitin-Proteasome Dependent Proteolysis

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for USP46
        Ubiquitin-Proteasome Dependent Proteolysis



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for USP46

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    5/46 Interacting proteins for USP46 (P620683 ENSP000004078184) via UniProtKB, MINT, STRING, and/or I2D (see all 46)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    WDR48Q8TAF33, ENSP000003074914I2D: score=6 STRING: ENSP00000307491
    ALDH9A1P491893, ENSP000003468274I2D: score=2 STRING: ENSP00000346827
    DMWDQ090193, ENSP000002702234I2D: score=2 STRING: ENSP00000270223
    EIF2AK4Q9P2K83, ENSP000002637914I2D: score=2 STRING: ENSP00000263791
    PHLPP2Q6ZVD83, ENSP000003486114I2D: score=2 STRING: ENSP00000348611
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001662behavioral fear response IEA--
    GO:0006511ubiquitin-dependent protein catabolic process IEA--
    GO:0007610behavior ISS--
    GO:0016579protein deubiquitination IDA19075014
    GO:0032228regulation of synaptic transmission, GABAergic ISS--

    USP46 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 USP46 (UBP46)

    1 HMDB Compound for USP46    About this table
    CompoundSynonyms CAS #PubMed Ids
    WaterDihydrogen oxide (see all 2)7732-18-5--

    Search CenterWatch for drugs/clinical trials and news about USP46 / UBP46

    (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 USP46 gene (2 alternative transcripts): 
    NM_001134223.1  NM_022832.3  

    Unigene Cluster for USP46:

    Ubiquitin specific peptidase 46
    Hs.7966  [show with all ESTs]
    Unigene Representative Sequence: NM_001134223
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000441222(uc003gzm.4 uc003gzn.3 uc011bzr.2 uc011bzs.2)
    ENST00000451218 ENST00000503060 ENST00000514536 ENST00000508499 ENST00000502443
    ENST00000506707 ENST00000512656 ENST00000504078
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat USP46
    8/171 QIAGEN miScript miRNA Assays for microRNAs that regulate USP46 (see all 171):
    hsa-miR-520f hsa-miR-106a hsa-miR-128 hsa-miR-877* hsa-miR-409-5p hsa-miR-200b hsa-miR-130b hsa-miR-761
    SwitchGear 3'UTR luciferase reporter plasmidUSP46 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for USP46
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat USP46
    Clone
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    OriGene clones in human, mouse for USP46 (see all 12)
    OriGene ORF clones in mouse, rat for USP46
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): USP46 (NM_001134223)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for USP46
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat USP46
    Sirion Biotech Customized lentivirus for stable overexpression of USP46 
                         Customized lentivirus expression plasmids for stable overexpression of USP46 
    Primer
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    OriGene qPCR primer pairs and template standards for USP46
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat USP46
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat USP46

    Additional mRNA sequence: 

    AF070557.1 AK021861.1 AK022614.1 AK024318.1 AK024345.1 AK096712.1 AK296493.1 AK299883.1 
    AK302438.1 BC037574.1 GU455414.1 

    8 DOTS entries:

    DT.216106  DT.306763  DT.95158698  DT.100009942  DT.121232700  DT.95158700  DT.95215287  DT.87024747 

    24/144 AceView cDNA sequences (see all 144):

    AI092629 AI269069 AK024318 BE644658 AU118910 Z43068 BF593826 CN483539 
    AI242282 AI094592 BU190587 AW268426 AW511434 BF511991 AU119611 BC037574 
    AI087312 AI094585 CB243090 AF070557 CB216241 CB054693 AU148675 BM722473 

    GeneLoc Exon Structure

    5/8 Alternative Splicing Database (ASD) splice patterns (SP) for USP46 (see all 8)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c · 7d ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14a · 14b
    SP1:                                                                                                                                      -               
    SP2:                                                                                                                                                      
    SP3:        -     -     -     -     -     -                 -     -                                                                                       
    SP4:                                                                                                                                                      
    SP5:                          -     -     -                 -     -                                                                                       


    ECgene alternative splicing isoforms for USP46

    (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

    USP46 expression in normal human tissues (normalized intensities)      USP46 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGTCAGGGAA
    USP46 Expression
    About this image


    USP46 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Proerythroblasts Hematopoietic Bone Marrow
             bone marrow cd34+   

    See USP46 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for USP46

    SOURCE GeneReport for Unigene cluster: Hs.7966

    UniProtKB/Swiss-Prot: UBP46_HUMAN, P62068
    Tissue specificity: Broadly expressed

        SABiosciences Custom PCR Arrays for USP46
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat USP46
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for USP46

    (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 eukaryotes.

    Orthologs for USP46 gene from 10/19 species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Usp461 , 5 ubiquitin specific peptidase 461, 5 93.08(n)1
    100(a)1
      5 (39.33 cM)5
    697271  NM_177561.31  NP_808229.11 
     739984635 
    chicken
    (Gallus gallus)
    Aves USP461 ubiquitin specific peptidase 46 87.61(n)
    98.63(a)
      422758  XM_420711.3  XP_420711.1 
    lizard
    (Anolis carolinensis)
    Reptilia USP466
    ubiquitin specific peptidase 46
    97(a)
    1 ↔ 1
    GL343293.1(1385827-1423849)
    African clawed frog
    (Xenopus laevis)
    Amphibia BC044045.12   -- 79.78(n)    BC044045.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CD604688.12   -- 85.91(n)    CD604688.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG70236
    --
    63(a)
    1 → many
    3R(18576614-18602096)
    worm
    (Caenorhabditis elegans)
    Secernentea usp-461 Protein USP-46 66.57(n)
    71.39(a)
      176381  NM_066761.3  NP_499162.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes UBP96
    UBP136
    Ubiquitin carboxyl-terminal hydrolase, ubiquitin-s...
    Putative ubiquitin carboxyl-terminal hydrolase, ub...
    18(a)
    17(a)
    many ↔ many
    many ↔ many
    V(355466-357730)
    II(93639-95882)
    soybean
    (Glycine max)
    eudicotyledons Gma.24602 Transcribed sequence with strong similarity to protein more 73.36(n)  
    rice
    (Oryza sativa)
    Liliopsida Os03g01908001 hypothetical protein 61.6(n)
    62.46(a)
      4331901  NM_001055763.1  NP_001049228.1 


    ENSEMBL Gene Tree for USP46 (if available)
    TreeFam Gene Tree for USP46 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for USP46 gene
    USP352  USP122  USP382  USP12  
    1 SIMAP similar gene for USP46 using alignment to 5 protein entries:     UBP46_HUMAN (see all proteins):
    USP12

    USP46 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

    10/1089 SNPs in USP46 are shown (see all 1089)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1452750391,2
    --53456676(+) TTCTTA/CCCCTA 2 -- int10--------
    rs1505997191,2
    --53456735(+) ATAATC/TGACTG 2 -- int10--------
    rs412803551,2
    C,F--53456736(+) TAATCG/AACTGT 2 -- int13Minor allele frequency- A:0.14WA NA EA 358
    rs1822902601,2
    --53456873(+) TTCCCC/TTTTAA 2 -- int10--------
    rs1866241351,2
    --53456882(+) AAATAC/TTGAAG 2 -- int10--------
    rs1126926331,2
    C,F--53457140(+) AAAGAG/ATTTTC 2 -- ut311Minor allele frequency- A:0.50CSA 2
    rs1923695611,2
    --53457399(+) GAGACC/TGAAAT 2 -- ut310--------
    rs1171646131,2
    C--53457417(+) TGGCTG/ACATTG 2 -- ut311Minor allele frequency- A:0.01EA 120
    rs22708271,2
    C,F,O,A,H--53457420(-) ATCCAA/GTGCAG 2 -- ut3121Minor allele frequency- G:0.16NS EA NA CSA WA 2482
    rs76908121,2
    C,F--53457594(+) TGAACT/CCCTTT 2 -- ut319Minor allele frequency- C:0.17NA CSA WA EA 503

    HapMap Linkage Disequilibrium report for USP46 (53457126 - 53525502 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for USP46:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2105142CNV Deletion18987734
    esv2727602CNV Deletion23290073
    nsv524494CNV Loss19592680


    Human Gene Mutation Database (HGMD): USP46
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing USP46
    DNA2.0 Custom Variant and Variant Library Synthesis for USP46

    (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: 612849    OMIM disorders: --

    4 diseases for USP46:    About MalaCards
    major depressive disorder    bipolar disorder    schizophrenia    colon cancer


    USP46 for disorders           About GeneDecksing

    Genetic Association Database (GAD): USP46
    Human Genome Epidemiology (HuGE) Navigator: USP46 (2 documents)

    Export disorders for USP46 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 USP46 gene, integrated from 9 sources (see all 19):
    (articles sorted by number of sources associating them with USP46)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Lysine 92 amino acid residue of USP46, a gene associated with 'behavioral despair' in mice, influences the deubiquitinating enzyme activity. (PubMed id 22043315)1, 2 Zhang W....Wang M.W. (2011)
    2. Association study of ubiquitin-specific peptidase 46 (USP46) with bipolar disorder and schizophrenia in a Japanese population. (PubMed id 20111060)1, 4 Kushima I....Ozaki N. (2010)
    3. Genome-wide association study of biochemical traits in Korcula Island, Croatia. (PubMed id 19260141)1, 4 Zemunik T....Rudan I. (2009)
    4. UAF1 is a subunit of multiple deubiquitinating enzyme complexes. (PubMed id 19075014)1, 2 Cohn M.A.... D'Andrea A.D. (2009)
    5. 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)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. Cloning and enzymatic analysis of 22 novel human ubiquitin-specific proteases. (PubMed id 14715245)1, 2 Quesada V.... Lopez-Otin C. (2004)
    8. Human and mouse proteases: a comparative genomic approach. (PubMed id 12838346)1, 3 Puente X.S.... Lopez-Otin C. (2003)
    9. The deubiquitination enzyme USP46 functions as a tumor suppressor by controlling PHLPP-dependent attenuation of Akt signaling in colon cancer. (PubMed id 22391563)1 Li X....Gao T. (2013)
    10. Possible association between ubiquitin-specific pepti dase 46 gene and major depressive disorders in the Japanese population. (PubMed id 21663972)1 Fukuo Y....Iwata N. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 64854 HGNC: 20075 AceView: USP46 Ensembl:ENSG00000109189 euGenes: HUgn64854
    ECgene: USP46 H-InvDB: USP46

    (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 USP46 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 USP46 gene:
    Search GeneIP for patents involving USP46

    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: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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