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USP12 Gene

protein-coding   GIFtS: 55
GCID: GC13M027640

Ubiquitin Specific Peptidase 12

(Previous names: ubiquitin specific protease 12 like 1, ubiquitin specific...)
(Previous symbol: USP12L1)
  Search for USP12
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Ubiquitin Specific Peptidase 121 2     Ubiquitin-Specific-Processing Protease 122 3
USP12L11 2 3     Ubiquitin Specific Protease 121
UBH12 3 5     Ubiquitin Carboxyl-Terminal Hydrolase 122
Ubiquitin Specific Protease 12 Like 11 2     Ubiquitin Thiolesterase 122
Deubiquitinating Enzyme 122 3     EC 3.4.19.123
Ubiquitin Thioesterase 122 3     EC 3.1.2.158
Ubiquitin-Hydrolyzing Enzyme 12 3     

External Ids:    HGNC: 204851   Entrez Gene: 2193332   Ensembl: ENSG000001524847   OMIM: 6030915   UniProtKB: O753173   

Export aliases for USP12 gene to outside databases

Previous GC identifers: GC05U990084 GC13M026570 GC13M025440 GC13M025438 GC13M026540 GC13M008462


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for USP12 Gene:
USP12 (ubiquitin specific peptidase 12) is a protein-coding gene. 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: UBP12_HUMAN, O75317
Function: Deubiquitinating enzyme. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000013.10  NT_024524.15  NC_018924.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the USP12 gene promoter:
         Bach1   FOXF2   Nkx2-2   FOXD3   IRF-2   POU2F1   POU2F1a   FOXJ2 (long isoform)   FOXJ2   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidUSP12 promoter sequence
   Search Chromatin IP Primers for USP12

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat USP12


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

Entrez Gene cytogenetic band: 13q12.13   Ensembl cytogenetic band:  13q12.13   HGNC cytogenetic band: 13q12.13

USP12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
USP12 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13M027640:  view genomic region     (about GC identifiers)

Start:
27,640,287 bp from pter      End:
27,746,033 bp from pter
Size:
105,747 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: UBP12_HUMAN, O75317 (See protein sequence)
Recommended Name: Ubiquitin carboxyl-terminal hydrolase 12  
Size: 370 amino acids; 42858 Da
Subunit: Interacts with WDR48
Sequence caution: Sequence=AAC23551.1; Type=Erroneous initiation;
Secondary accessions: A8K0X0 Q5VZV3 Q8TC49

Explore the universe of human proteins at neXtProt for USP12: NX_O75317

Explore proteomics data for USP12 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for USP12 (O75317) (see all 16)
     PNRGHYI  IGPEQFP  FQGTLTN  KQEKQNG 


    See USP12 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_872294.2  
    ENSEMBL proteins: 
     ENSP00000282344  

    USP12 Human Recombinant Protein Products:

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    Novus Biologicals USP12 Proteins
    Novus Biologicals USP12 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for USP12

     
    Search eBioscience for Proteins for USP12 

    USP12 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Cloud-Clone Corp. ELISAs for USP12
    Cloud-Clone Corp. CLIAs for USP12
    Search eBioscience for ELISAs for USP12 


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

    3 InterPro protein domains:
     IPR001394 Peptidase_C19_UCH
     IPR018200 Pept_C19ubi-hydrolase_C_CS
     IPR028889 UCH/PAN2

    Graphical View of Domain Structure for InterPro Entry O75317

    ProtoNet protein and cluster: O75317

    1 Blocks protein domain: IPB001394 Ubiquitin thiolesterase

    UniProtKB/Swiss-Prot: UBP12_HUMAN, O75317
    Similarity: Belongs to the peptidase C19 family. USP12/USP46 subfamily
    Similarity: Contains 1 USP domain


    Find genes that share domains with USP12           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: UBP12_HUMAN, O75317
    Function: Deubiquitinating enzyme. 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)

         Genatlas biochemistry entry for USP12:
    ubiquitin specific protease 12,mainly expressed in retina,olfactory epithelium,peripheral neuronal ganglia and
    distinct areas of the gut,involved in deubiquitina,deubiquitin enzyme family

         Enzyme Numbers (IUBMB): EC 3.1.2.152 EC 3.4.19.121

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004197cysteine-type endopeptidase activity IMP19075014
    GO:0004221ubiquitin thiolesterase activity TAS9615226
    GO:0004843ubiquitin-specific protease activity IDA19075014
    GO:0005515protein binding IPI19075014
         
    Find genes that share ontologies with USP12           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for USP12:
     Decreased viability with cispl  Increased homologous recombina 

         1 MGI phenotypic allele for Usp12 (no phenotypes)

    Find genes that share phenotypes with USP12           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for USP12
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for USP12

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for USP12
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for USP12

    miRNA
    Products:
        
    miRTarBase miRNAs that target USP12:
    hsa-mir-192-5p (MIRT026621), hsa-mir-1260b (MIRT052688), hsa-mir-215-5p (MIRT024309), hsa-mir-744-5p (MIRT037403), hsa-mir-373-3p (MIRT002534)

    Block miRNA regulation of human, mouse, rat USP12 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate USP12 (see all 87):
    hsa-miR-100* hsa-miR-520f hsa-miR-300 hsa-miR-15a hsa-miR-3921 hsa-miR-629* hsa-miR-29a* hsa-miR-4326
    SwitchGear 3'UTR luciferase reporter plasmidUSP12 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for USP12
    Predesigned siRNA for gene silencing in human, mouse, rat USP12

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for USP12 (see all 8)
    OriGene ORF clones in mouse, rat for USP12
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript Custom all cDNA clones Services for USP12
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for USP12
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat USP12

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for USP12 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for USP12


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol2
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--

    Find genes that share ontologies with USP12           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for USP12 About    
    See pathways by source

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

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for USP12
        Ubiquitin-Proteasome Dependent Proteolysis


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for USP12
    Interactions:

        Search GeneGlobe Interaction Network for USP12

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for USP12 (O753173 ENSP000002823444) via UniProtKB, MINT, STRING, and/or I2D (see all 44)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MMP2P082533, ENSP000002190704I2D: score=2 STRING: ENSP00000219070
    PAIP1Q9H0743, ENSP000003027684I2D: score=2 STRING: ENSP00000302768
    PHLPP2Q6ZVD83, ENSP000003486114I2D: score=2 STRING: ENSP00000348611
    WDR20Q8TBZ33, ENSP000003354344I2D: score=2 STRING: ENSP00000335434
    HIST2H2ACQ167773, ENSP000003321944I2D: score=1 STRING: ENSP00000332194
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006464cellular protein modification process ----
    GO:0006511ubiquitin-dependent protein catabolic process IEA--
    GO:0016579protein deubiquitination IDA19075014

    Find genes that share ontologies with USP12           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for USP12 (UBP12)



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for USP12 gene: 
    NM_182488.3  

    Unigene Cluster for USP12:

    Ubiquitin specific peptidase 12
    Hs.42400  [show with all ESTs]
    Unigene Representative Sequence: NM_182488
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000282344(uc001uqy.3)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat USP12 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate USP12 (see all 87):
    hsa-miR-100* hsa-miR-520f hsa-miR-300 hsa-miR-15a hsa-miR-3921 hsa-miR-629* hsa-miR-29a* hsa-miR-4326
    SwitchGear 3'UTR luciferase reporter plasmidUSP12 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for USP12
    Predesigned siRNA for gene silencing in human, mouse, rat USP12
    Clone
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    OriGene clones in human, mouse for USP12 (see all 8)
    OriGene ORF clones in mouse, rat for USP12
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript Custom all cDNA clones Services for USP12
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for USP12
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat USP12
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for USP12
    OriGene qSTAR qPCR primer pairs in human, mouse for USP12
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat USP12
      QuantiTect SYBR Green Assays in human, mouse, rat USP12
      QuantiFast Probe-based Assays in human, mouse, rat USP12

    Additional mRNA sequence: 

    AF022789.1 AK289685.1 AL049221.1 BC026072.1 

    12 DOTS entries:

    DT.75187513  DT.409156  DT.101967297  DT.75127843  DT.97770033  DT.100660226  DT.120652128  DT.91913091 
    DT.95231244  DT.91740469  DT.99935569  DT.99995190 

    Selected AceView cDNA sequences (see all 188):

    AW501808 CB217149 CA309356 AI346242 CD516704 BE504549 BM021355 AF022793 
    BF002096 AA405037 F03956 AI478322 W38373 AA418174 BM803688 BX099332 
    BU676227 AA832295 AA459676 AA412513 BM930847 AA453343 AA459664 AA459786 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for USP12    About this scheme

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


    ECgene alternative splicing isoforms for USP12

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    USP12 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCCTGGCTCT
    USP12 Expression
    About this image

    USP12 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    USP12 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.42400
        Custom PCR Arrays for USP12
    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat USP12
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for USP12

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for USP12 gene from Selected species (see all 21)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Usp121 , 5 ubiquitin specific peptidase 121, 5 90.18(n)1
    98.38(a)1
      5 (86.00 cM)5
    222171  NM_011669.31  NP_035799.11 
     1467348095 
    chicken
    (Gallus gallus)
    Aves USP121 ubiquitin specific peptidase 12 89.08(n)
    98.87(a)
      428078  XM_004938776.1  XP_004938833.1 
    lizard
    (Anolis carolinensis)
    Reptilia USP126
    ubiquitin specific peptidase 12
    98(a)
    1 ↔ 1
    GL343306.1(1001348-1034087)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1004945171 ubiquitin carboxyl-terminal hydrolase 12-B-like 85.14(n)
    98.92(a)
      100494517  XM_002941538.2  XP_002941584.2 
    zebrafish
    (Danio rerio)
    Actinopterygii usp12a1 ubiquitin specific peptidase 12a 76.94(n)
    93.51(a)
      565736  NM_001083556.1  NP_001077025.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG70236
    --
    62(a)
    1 → many
    3R(18576614-18602096)
    worm
    (Caenorhabditis elegans)
    Secernentea usp-466
    Protein USP-46, isoform b (usp-46) mRNA, complete ...
    58(a)
    1 → many
    III(9776532-9778849) WBGene00011216
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes UBP96
    UBP136
    Ubiquitin carboxyl-terminal hydrolase, ubiquitin-s...
    Putative ubiquitin carboxyl-terminal hydrolase, ub...
    19(a)
    18(a)
    many ↔ many
    many ↔ many
    V(355466-357730) YER098W
    II(93639-95882) YBL067C
    Alicante grape
    (Vitis vinifera)
    eudicotyledons Vvi.48182 Vitis vinifera transcribed sequence with moderate similarity more 73.71(n)    CB981167.1 
    rice
    (Oryza sativa)
    Liliopsida AK069100.12   -- 71.44(n)    AK069100.1 


    ENSEMBL Gene Tree for USP12 (if available)
    TreeFam Gene Tree for USP12 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for USP12 gene
    USP352  USP382  USP462  USP12  
    1 SIMAP similar gene for USP12 using alignment to 1 protein entry:     UBP12_HUMAN:
    USP46

    Find genes that share paralogs with USP12           About GenesLikeMe


    Selected Pseudogenes.org Pseudogenes for USP12 (see all 8)
    PGOHUM00000240379 PGOHUM00000235832 PGOHUM00000236042 PGOHUM00000236049 PGOHUM00000236057


    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for USP12 (see all 2201)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1825792141,2
    --27639874(+) AGTTAC/TTCAAT 1 -- ds50010--------
    rs1471420481,2
    C--27639943(+) TTTACA/GGGAGC 1 -- ds50010--------
    rs1877516621,2
    --27640033(+) CTATGA/GCTCTC 1 -- ds50010--------
    rs95513531,2
    C,F,A,H--27640150(+) ACACAC/TGCAAT 1 -- ds500126Minor allele frequency- T:0.11NS EA NA WA CSA 2162
    rs1931372251,2
    --27640151(+) CACATA/GCAATT 1 -- ds50010--------
    rs1403364061,2
    --27640260(+) TTAGGA/CAAAAA 1 -- ds50010--------
    rs560430821,2
    C--27640349(+) CTTCAA/GGAACC 1 -- ut310--------
    rs1441967971,2
    C--27640354(+) AGAACC/TTTAAA 1 -- ut310--------
    rs1839766051,2
    --27640448(+) TGAAGC/TACAGA 1 -- ut310--------
    rs1507521051,2
    --27640485(+) CACAGC/TTAAAT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for USP12 (27640287 - 27746033 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for USP12:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv972CNV Insertion18451855

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing USP12
    DNA2.0 Custom Variant and Variant Library Synthesis for USP12

    (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.)
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    OMIM gene information: 603091    OMIM disorders: --

    1 disease from the University of Copenhagen DISEASES database for USP12:
    Fanconi's anemia

    Find genes that share disorders with USP12           About GenesLikeMe

    Genetic Association Database (GAD): USP12

    Export disorders for USP12 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)
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    PubMed articles for USP12 gene, integrated from 10 sources (see all 18):
    (articles sorted by number of sources associating them with USP12)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. An evolutionarily conserved gene on human chromosome 5q33-q34, UBH1, encodes a novel deubiquitinating enzyme. (PubMed id 9615226)1, 2, 9 Hansen-Hagge T.E....Bartram C.R. (Genomics 1998)
    2. A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population. (PubMed id 19915573)1, 4 Asano K....Kubo M. (Nat. Genet. 2009)
    3. UAF1 is a subunit of multiple deubiquitinating enzyme complexes. (PubMed id 19075014)1, 2 Cohn M.A.... D'Andrea A.D. (J. Biol. Chem. 2009)
    4. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)1, 2 Dunham A.... Ross M.T. (Nature 2004)
    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. (Genome Res. 2004)
    6. Human and mouse proteases: a comparative genomic approach. (PubMed id 12838346)1, 3 Puente X.S.... Lopez-Otin C. (Nat. Rev. Genet. 2003)
    7. WD repeat protein WDR48 in complex with deubiquitinase USP12 suppresses Akt-dependent cell survival signaling by stabilizing PH domain leucine-rich repeat protein phosphatase 1 (PHLPP1). (PubMed id 24145035)1 Gangula N.R. and Maddika S. (J. Biol. Chem. 2013)
    8. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    9. Deubiquitinating enzyme Usp12 is a novel co-activator of the androgen receptor. (PubMed id 24056413)1 Burska U.L....Robson C.N. (J. Biol. Chem. 2013)
    10. The ubiquitin-specific protease 12 (USP12) is a negative regulator of notch signaling acting on notch receptor trafficking toward degradation. (PubMed id 22778262)1 Moretti J....Brou C. (J. Biol. Chem. 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 219333 HGNC: 20485 AceView: USP12 Ensembl:ENSG00000152484 euGenes: HUgn219333
    ECgene: USP12 H-InvDB: USP12

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for USP12 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for USP12 gene:
    Search GeneIP for patents involving USP12

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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