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UBE2H Gene

protein-coding   GIFtS: 68
GCID: GC07M129470

Ubiquitin-Conjugating Enzyme E2H

(Previous names: ubiquitin-conjugating enzyme E2H (homologous to yeast UBC8),...)
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(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-Conjugating Enzyme E2H1 2     GID Complex Subunit 31
Ubiquitin-Conjugating Enzyme E2H (Homologous To Yeast UBC8)1 2     UBC8 Homolog (S. Cerevisiae)1
Ubiquitin-Conjugating Enzyme E2H (UBC8 Homolog, Yeast)1 2     E2-20K2
Ubiquitin Carrier Protein H2 3     GID32
Ubiquitin-Conjugating Enzyme E2-20K2 3     UBCH2
Ubiquitin-Protein Ligase H2 3     GID Complex Subunit 3, UBC8 Homolog2
EC 6.3.2.193 8     Ubiquitin-Conjugating Enzyme E2 H2
UBC82 5     UbcH23
UBCH22 5     

External Ids:    HGNC: 124841   Entrez Gene: 73282   Ensembl: ENSG000001865917   OMIM: 6010825   UniProtKB: P622563   

Export aliases for UBE2H gene to outside databases

Previous GC identifers: GC07M127950 GC07M129009 GC07M129026 GC07M129064 GC07M129257 GC07M123834


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for UBE2H Gene:
The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or
short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes:
ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or
E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. The encoded protein sequence is
100% identical to the mouse homolog and 98% identical to the frog and zebrafish homologs. Three alternatively
spliced transcript variants have been found for this gene and they encode distinct isoforms. (provided by RefSeq,
Feb 2011)

GeneCards Summary for UBE2H Gene:
UBE2H (ubiquitin-conjugating enzyme E2H) is a protein-coding gene. GO annotations related to this gene include ubiquitin-protein ligase activity.

UniProtKB/Swiss-Prot: UBE2H_HUMAN, P62256
Function: Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro
catalyzes 'Lys-11'- and 'Lys-48'-linked polyubiquitination. Capable, in vitro, to ubiquitinate histone H2A

Gene Wiki entry for UBE2H Gene


(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_000007.13  NC_018918.2  NT_007933.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the UBE2H gene promoter:
         ER-alpha   C/EBPbeta   GATA-3   PPAR-alpha   FAC1   SRY   GATA-6   FOXO1a   c-Myb   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): UBE2H promoter sequence
   Search Chromatin IP Primers for UBE2H

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat UBE2H


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

Entrez Gene cytogenetic band: 7q32   Ensembl cytogenetic band:  7q32.2   HGNC cytogenetic band: 7q32

UBE2H Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
UBE2H gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M129470:  view genomic region     (about GC identifiers)

Start:
129,470,572 bp from pter      End:
129,592,800 bp from pter
Size:
122,229 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 128,855,224-128,977,435     

(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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: UBE2H_HUMAN, P62256 (See protein sequence)
Recommended Name: Ubiquitin-conjugating enzyme E2 H  
Size: 183 amino acids; 20655 Da
1 PDB 3D structure from and Proteopedia for UBE2H:
2Z5D (3D)    
Secondary accessions: A4D1L6 C9JY93 P37286 Q7Z6F4
Alternative splicing: 2 isoforms:  P62256-1   P62256-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for UBE2H: NX_P62256

Explore proteomics data for UBE2H at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys60, Lys64, Lys147
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for UBE2H (P62256)
     KSPSIGF  VCLDVINQTW 


    See UBE2H Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001189427.1  NP_003335.1  NP_874356.1  

    ENSEMBL proteins: 
     ENSP00000347836   ENSP00000419097   ENSP00000417681   ENSP00000419689   ENSP00000417709  
     ENSP00000419750  
    Reactome Protein details: P62256

    UBE2H Human Recombinant Protein Products:

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    Sino Biological Recombinant Protein for UBE2H
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    Cloud-Clone Corp. Proteins for UBE2H

     
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    antibodies-online peptides for UBE2H

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    antibodies-online antibodies for UBE2H (36 products) 

    UBE2H Assay Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    UBE2: Ubiquitin-conjugating enzymes E2

    3 InterPro protein domains:
     IPR023313 UBQ-conjugating_AS
     IPR000608 UBQ-conjugat_E2
     IPR016135 UBQ-conjugating_enzyme/RWD

    Graphical View of Domain Structure for InterPro Entry P62256

    ProtoNet protein and cluster: P62256

    1 Blocks protein domain: IPB000608 Ubiquitin-conjugating enzymes

    UniProtKB/Swiss-Prot: UBE2H_HUMAN, P62256
    Similarity: Belongs to the ubiquitin-conjugating enzyme family


    Find genes that share domains with UBE2H           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: UBE2H_HUMAN, P62256
    Function: Accepts ubiquitin from the E1 complex and catalyzes its covalent attachment to other proteins. In vitro
    catalyzes 'Lys-11'- and 'Lys-48'-linked polyubiquitination. Capable, in vitro, to ubiquitinate histone H2A
    Catalytic activity: ATP + ubiquitin + protein lysine = AMP + diphosphate + protein N-ubiquityllysine

         Genatlas biochemistry entry for UBE2H:
    ubiquitin conjugating enzyme H2A,homolog to yeast UBC8

         Enzyme Number (IUBMB): EC 6.3.2.191 2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842ubiquitin-protein ligase activity IDA--
    GO:0005515protein binding IPI--
    GO:0005524ATP binding IEA--
    GO:0016881acid-amino acid ligase activity ----
         
    Find genes that share ontologies with UBE2H           About GenesLikeMe


    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for UBE2H

    miRNA
    Products:
        
    miRTarBase miRNAs that target UBE2H:
    hsa-let-7e-5p (MIRT051591), hsa-mir-1915-5p (MIRT035770), hsa-mir-451a (MIRT016629), hsa-mir-92a-3p (MIRT049032), hsa-mir-501-3p (MIRT037987), hsa-mir-30a-5p (MIRT028404), hsa-mir-155-5p (MIRT020674)

    Block miRNA regulation of human, mouse, rat UBE2H using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate UBE2H (see all 93):
    hsa-miR-607 hsa-miR-361-5p hsa-miR-300 hsa-miR-3146 hsa-miR-199a-3p hsa-miR-1258 hsa-miR-219-5p hsa-miR-374a
    SwitchGear 3'UTR luciferase reporter plasmidUBE2H 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat UBE2H

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    Addgene plasmids for UBE2H 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UBE2H


    (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
    cytosol3
    cytoskeleton2
    endoplasmic reticulum2
    nucleus2
    mitochondrion1
    peroxisome1

    (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 UBE2H About    
    See pathways by source

    SuperPathContained pathways About
    1Class I MHC mediated antigen processing and presentation
    Class I MHC mediated antigen processing and presentation0.84
    Adaptive Immune System0.41
    Antigen processing- Ubiquitination and Proteasome degradation0.84
    Ubiquitin mediated proteolysis0.35
    2Inactivation of APC/C via direct inhibition of the APC/C complex
    Common schema of ubiquitination0.33
    3Ubiquitin-Proteasome Dependent Proteolysis
    Ubiquitin-Proteasome Dependent Proteolysis
    4Remodeling of Adherens Junctions
    Remodeling of Adherens Junctions


    Find genes that share SuperPaths with UBE2H           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for UBE2H
        Ubiquitin-Proteasome Dependent Proteolysis
    Remodeling of Adherens Junctions


    1 Reactome Pathway for UBE2H
        Antigen processing: Ubiquitination & Proteasome degradation


    1 Kegg Pathway  (Kegg details for UBE2H):
        Ubiquitin mediated proteolysis

    UniProtKB/Swiss-Prot: UBE2H_HUMAN, P62256
    Pathway: Protein modification; protein ubiquitination

        Pathway & Disease-focused RT2 Profiler PCR Array including UBE2H: 

              Ubiquitination (Ubiquitylation) Pathway in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for UBE2H

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

    Selected Interacting proteins for UBE2H (P622561, 3 ENSP000003478364) via UniProtKB, MINT, STRING, and/or I2D (see all 158)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000237071P143733, ENSP000004052294I2D: score=2 STRING: ENSP00000405229
    ENSG00000215641P143733I2D: score=2 
    ENSG00000229006P143733I2D: score=2 
    ENSG00000234495P143733I2D: score=2 
    TRIM27P143733I2D: score=2 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006511ubiquitin-dependent protein catabolic process TAS8132613
    GO:0070936protein K48-linked ubiquitination IDA--
    GO:0070979protein K11-linked ubiquitination IDA--

    Find genes that share ontologies with UBE2H           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
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    Browse Tocris compounds for UBE2H

    4 HMDB Compounds for UBE2H    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine monophosphate5'-AMP (see all 28)61-19-8--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--



    (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 UBE2H gene (3 alternative transcripts): 
    NM_001202498.1  NM_003344.3  NM_182697.2  

    Unigene Cluster for UBE2H:

    Ubiquitin-conjugating enzyme E2H
    Hs.643548  [show with all ESTs]
    Unigene Representative Sequence: NM_003344
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000355621(uc022aln.1 uc003vpf.2 uc003vpg.2) ENST00000473814
    ENST00000496698 ENST00000483368 ENST00000472396 ENST00000480245 ENST00000486283
    ENST00000463272 ENST00000490974
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate UBE2H (see all 93):
    hsa-miR-607 hsa-miR-361-5p hsa-miR-300 hsa-miR-3146 hsa-miR-199a-3p hsa-miR-1258 hsa-miR-219-5p hsa-miR-374a
    SwitchGear 3'UTR luciferase reporter plasmidUBE2H 3' UTR sequence
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      QuantiTect SYBR Green Assays in human, mouse, rat UBE2H
      QuantiFast Probe-based Assays in human, mouse, rat UBE2H

    Additional mRNA sequence: 

    AB451490.1 AK024519.1 AK026094.1 AK316590.1 AY302138.1 BC006277.2 BT006756.1 Z29328.1 
    Z29330.1 Z29331.1 

    Selected DOTS entries (see all 25):

    DT.87017898  DT.87017436  DT.95243234  DT.99980512  DT.91994447  DT.91647119  DT.40300964  DT.121119802 
    DT.100845527  DT.95243162  DT.100845532  DT.92008696  DT.100729584  DT.100845530  DT.121119701  DT.121119747 
    DT.121119759  DT.91761141  DT.91886072  DT.99989542  DT.40235291  DT.91761162  DT.92406927  DT.95243164 

    Selected AceView cDNA sequences (see all 938):

    AI066637 BQ009264 AI935490 AA010909 AI149013 BQ005443 AI362235 W03620 
    AA099275 AA873696 AA887973 CA427096 AA026035 AI291574 BE220446 BM129756 
    BU069056 BM311558 AA857137 BM763947 W84557 CA447405 BF941826 AI753305 

    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™, 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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    UBE2H expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGAAGCAGAC
    UBE2H Expression
    About this image


    UBE2H expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Blood (Hematopoietic System)    fully expand to see all 3 entries
             Erythroblasts Hematopoietic Bone Marrow
             Peripheral blood-derived hematopoietic stem cells (family)
     
     Epithelial Cells
             Presumptive Podocytes Podocyte Layer
     
     Kidney (Urinary System)
             Presumptive Podocytes Podocyte Layer
    UBE2H Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    UBE2H Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.643548
        Pathway & Disease-focused RT2 Profiler PCR Array including UBE2H: 
              Ubiquitination (Ubiquitylation) Pathway in human mouse rat

    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat UBE2H
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for UBE2H

    (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 UBE2H gene from Selected species (see all 28)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ube2h1 , 5 ubiquitin-conjugating enzyme E2H1, 5 93.81(n)1
    100(a)1
      6 (12.52 cM)5
    222141  NM_009459.31  NP_033485.11 
     302112895 
    chicken
    (Gallus gallus)
    Aves UBE2H1 ubiquitin-conjugating enzyme E2H 89.25(n)
    100(a)
      416678  NM_001030647.1  NP_001025818.1 
    lizard
    (Anolis carolinensis)
    Reptilia UBE2H6
    ubiquitin-conjugating enzyme E2H
    88(a)
    1 ↔ 1
    GL343708.1(12272-105003)
    African clawed frog
    (Xenopus laevis)
    Amphibia ube2h-prov2 ubiquitin-conjugating enzyme E2H 90.47(n)    BC044038.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc07a052 Danio rerio mRNA similar to ubiquitin-conjugating enzyme more 82.23(n)    BC049139.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ubc-E2H1 , 3 ubiquitin conjugating enzyme3
    Ubc-E2H1
    78(a)
    (best of 2)3
    65.76(n)1
    78.69(a)1
      317281  NM_167146.11  NP_727234.11 
    worm
    (Caenorhabditis elegans)
    Secernentea ubc-81 , 3 ubc-81 56(a)3
    62.58(n)1
    67.74(a)1
      IV(2704696-2707234)3
    1908021  NM_067844.21  NP_500245.21 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes UBC8(YEL012W)4
    UBC81
    Ubiquitin-conjugating enzyme that negatively regulates more4
    UBC81
    58.99(n)1
    59.21(a)1
      5(131772-132551)4
    8567041, 4  NP_010904.21, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons UBC41 UBC4 63.5(n)
    59.49(a)
      834136  NM_123499.4  NP_568589.1 
    rice
    (Oryza sativa)
    Liliopsida AK066993.12   -- 75(n)    AK066993.1 


    ENSEMBL Gene Tree for UBE2H (if available)
    TreeFam Gene Tree for UBE2H (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for UBE2H gene
    Selected SIMAP similar genes for UBE2H using alignment to 7 protein entries:     UBE2H_HUMAN (see all proteins) (see all similar genes):
    HR6A    UBE2N    UBE2D3    UBE2D4    UBE2D2    UBE2D1
    UBE2B    UBE2A    UBE2S    UBE2L6    UBE2E2    UBE2C
    UBE2K    UBE2L3    UBE2E1    UBE2T    UBE2NL    UBE2I

    Find genes that share paralogs with UBE2H           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for UBE2H
    PGOHUM00000249724


    (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 UBE2H (see all 2371)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs8736641,2
    C,F,O,H--129470167(-) CTGATC/TTGCCT 3 -- ds500125Minor allele frequency- T:0.07MN NS EA NA WA 3066
    rs765225941,2
    C,F--129470282(+) ACCTTC/TGGGCT 3 -- ds50012Minor allele frequency- T:0.07NA EA 240
    rs1901171111,2
    C--129470445(+) GCATTC/GTAAGA 3 -- ds50010--------
    rs731596961,2
    --129470575(+) CATTTA/GCCAAG 3 -- ut310--------
    rs1818146951,2
    --129470588(+) ATATAC/TACGTT 3 -- ut310--------
    rs1870730641,2
    --129470634(+) CTATTA/GAGAGG 3 -- ut310--------
    rs38324591,2
    C--129470656(+) GAGGC-/ATATGTG 3 -- ut310--------
    rs718144661,2
    C--129470657(+) AGGCA-/ATTGTGT 3 -- ut310--------
    rs1140135181,2
    C,F--129470708(+) GAGAAA/CGGTGG 3 -- ut311Minor allele frequency- C:0.01WA 118
    rs37349261,2
    C,F,H--129470709(+) AGAAAG/AGTGGA 3 -- ut31 trp39Minor allele frequency- A:0.02EA NS NA 2264

    HapMap Linkage Disequilibrium report for UBE2H (129470572 - 129592800 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for UBE2H:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2735150CNV Deletion23290073
    nsv366414CNV Loss16902084
    nsv831129CNV Loss17160897
    nsv510968CNV Complex20534489

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing UBE2H
    DNA2.0 Custom Variant and Variant Library Synthesis for UBE2H

    (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: 601082    OMIM disorders: --

    1 disease from the University of Copenhagen DISEASES database for UBE2H:
    Muscular atrophy

    Find genes that share disorders with UBE2H           About GenesLikeMe

    Genetic Association Database (GAD): UBE2H
    Human Genome Epidemiology (HuGE) Navigator: UBE2H (3 documents)

    Export disorders for UBE2H 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 UBE2H gene, integrated from 10 sources (see all 44):
    (articles sorted by number of sources associating them with UBE2H)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A human ubiquitin-conjugating enzyme homologous to yeast UBC8. (PubMed id 8132613)1, 2, 3, 9 Kaiser P.... Schneider R. (J. Biol. Chem. 1994)
    2. Association study of the ubiquitin conjugating enzyme gene UBE2H in sporadic ALS. (PubMed id 19922136)1, 4 Martin I....Corcia P. (Amyotroph Lateral Scler 2009)
    3. A common variant in DRD3 receptor is associated with autism spectrum disorder. (PubMed id 19058789)1, 4 de Krom M....van Ree J.M. (Biol. Psychiatry 2009)
    4. 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)
    5. Human chromosome 7: DNA sequence and biology. (PubMed id 12690205)1, 2 Scherer S.W.... Tsui L.-C. (Science 2003)
    6. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (Nature 2003)
    7. Mutation screening and association study of the UBE2H gene on chromosome 7q32 in autistic disorder. (PubMed id 14639049)1, 9 Vourc'h P....Andres C. (Psychiatr. Genet. 2003)
    8. Induction of ubiquitin-conjugating enzymes during terminal erythroid differentiation. (PubMed id 7761435)1, 9 Wefes I....Finley D. (Proc. Natl. Acad. Sci. U.S.A. 1995)
    9. MG53-induced IRS-1 ubiquitination negatively regulates skeletal myogenesis and insulin signalling. (PubMed id 23965929)1 Yi J.S....Ko Y.G. (Nat Commun 2013)
    10. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 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: 7328 HGNC: 12484 AceView: UBE2H Ensembl:ENSG00000186591 euGenes: HUgn7328
    ECgene: UBE2H Kegg: 7328 H-InvDB: UBE2H

    (According to HUGE)
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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 UBE2H 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 UBE2H gene:
    Search GeneIP for patents involving UBE2H

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



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