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

HECTD2 Gene

protein-coding   GIFtS: 49
GCID: GC10P093160

HECT Domain Containing E3 Ubiquitin Protein Ligase 2

(Previous name: HECT domain containing 2)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

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

Aliases
HECT Domain Containing E3 Ubiquitin Protein Ligase 21 2
HECT Domain Containing 21 2
HECT Domain-Containing Protein 22 3
Probable E3 Ubiquitin-Protein Ligase HECTD22
EC 6.3.2.-3

External Ids:    HGNC: 267361   Entrez Gene: 1432792   Ensembl: ENSG000001653387   UniProtKB: Q5U5R93   

Export aliases for HECTD2 gene to outside databases

Previous GC identifers: GC10P092835 GC10P086798


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

GeneCards Summary for HECTD2 Gene: 
HECTD2 (HECT domain containing E3 ubiquitin protein ligase 2) is a protein-coding gene. Diseases associated with HECTD2 include creutzfeldt-jakob syndrome, and bovine spongiform encephalopathy. GO annotations related to this gene include ubiquitin-protein ligase activity. An important paralog of this gene is HERC3.

UniProtKB/Swiss-Prot: HECD2_HUMAN, Q5U5R9
Function: Probable E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in
the form of a thioester and then directly transfers the ubiquitin to targeted substrates (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000010.10  NT_030059.13  NC_018921.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HECTD2 gene promoter:
         HOXA9   HOXA9B   Gfi-1   Evi-1   POU2F1   POU2F1a   Meis-1a   Meis-1   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidHECTD2 promoter sequence
   Search SABiosciences Chromatin IP Primers for HECTD2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HECTD2


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

Entrez Gene cytogenetic band: 10q23.32   Ensembl cytogenetic band:  10q23.32   HGNC cytogenetic band: 10q23.32

HECTD2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HECTD2 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10P093160:  view genomic region     (about GC identifiers)

Start:
93,170,096 bp from pter      End:
93,274,586 bp from pter
Size:
104,491 bases      Orientation:
plus 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: HECD2_HUMAN, Q5U5R9 (See protein sequence)
Recommended Name: Probable E3 ubiquitin-protein ligase HECTD2  
Size: 776 amino acids; 88122 Da
Secondary accessions: Q5VZ97 Q5VZ98 Q5VZ99 Q8N1X7 Q8TCP5
Alternative splicing: 2 isoforms:  Q5U5R9-1   Q5U5R9-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HECTD2: NX_Q5U5R9

Explore proteomics data for HECTD2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5U5R9

  • HECTD2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HECTD2 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001271203.1  NP_775768.3  NP_877497.3  

    ENSEMBL proteins: 
     ENSP00000360746   ENSP00000298068   ENSP00000360731   ENSP00000401023   ENSP00000439687  

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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for HECTD2 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IBA--
    GO:0005737cytoplasm IBA--

    HECTD2 for ontologies           About GeneDecksing



    HECTD2 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR000569 HECT

    Graphical View of Domain Structure for InterPro Entry Q5U5R9

    ProtoNet protein and cluster: Q5U5R9

    1 Blocks protein domain: IPB000569 HECT domain (Ubiquitin-protein ligase)

    UniProtKB/Swiss-Prot: HECD2_HUMAN, Q5U5R9
    Similarity: Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain


    HECTD2 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: HECD2_HUMAN, Q5U5R9
    Function: Probable E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in
    the form of a thioester and then directly transfers the ubiquitin to targeted substrates (By similarity)

         Enzyme Number (IUBMB): EC 6.3.2.-1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842ubiquitin-protein ligase activity IBA--
         
    HECTD2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for HECTD2:
     Increased cell death HMECs cel  Increased cilium length after  

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for HECTD2 
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    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidHECTD2 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HECTD2


    (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



    UniProtKB/Swiss-Prot: HECD2_HUMAN, Q5U5R9
    Pathway: Protein modification; protein ubiquitination

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for HECTD2

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    5/16 Interacting proteins for HECTD2 (Q5U5R93 ENSP000002980684) via UniProtKB, MINT, STRING, and/or I2D (see all 16)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCP0CG483, ENSP000003448184I2D: score=1 STRING: ENSP00000344818
    PAPD5Q8NDF83I2D: score=2 
    ABCG2Q9UNQ03I2D: score=1 
    CHIAQ9BZP63I2D: score=1 
    FA2HQ7L5A83I2D: score=1 
    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:0042787protein ubiquitination involved in ubiquitin-dependent protein catabolic process IBA--

    HECTD2 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 HECTD2 (HECD2)

    Search CenterWatch for drugs/clinical trials and news about HECTD2 / HECD2

    (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 HECTD2 gene (3 alternative transcripts): 
    NM_001284274.1  NM_173497.3  NM_182765.4  

    Unigene Cluster for HECTD2:

    HECT domain containing E3 ubiquitin protein ligase 2
    Hs.596096  [show with all ESTs]
    Unigene Representative Sequence: NM_182765
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000371681(uc001khk.2) ENST00000298068(uc009xty.1) ENST00000487511
    ENST00000498446 ENST00000371667(uc001khn.1) ENST00000446394(uc001khl.2 uc010qnm.1 uc001khm.2)
    ENST00000536715

    miRNA
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    8/26 QIAGEN miScript miRNA Assays for microRNAs that regulate HECTD2 (see all 26):
    hsa-miR-448 hsa-miR-202 hsa-miR-106a hsa-miR-548v hsa-miR-218 hsa-miR-221 hsa-miR-548a-3p hsa-miR-124
    SwitchGear 3'UTR luciferase reporter plasmidHECTD2 3' UTR sequence
    Inhib. RNA
    Products:
         
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    Clone
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat HECTD2
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    Additional mRNA sequence: 

    AF131793.1 AK094625.1 AK122629.1 AK295723.1 AL713675.1 BC040187.1 BX537856.1 

    8 DOTS entries:

    DT.95159826  DT.75100678  DT.40306043  DT.99955649  DT.410693  DT.100671974  DT.91948400  DT.92035613 

    24/80 AceView cDNA sequences (see all 80):

    AL713675 AK122629 Z45654 AI973069 AI640842 AF131793 Z42993 AA405558 
    AI217197 AA744571 BX097208 Z41325 AI682502 AA405548 AW771211 AA447223 
    AI635346 AL832073 BC036487 AA633619 AI370615 AW015349 AI654112 AK094625 

    GeneLoc Exon Structure


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

    HECTD2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    HECTD2 Expression
    About this image


    See HECTD2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HECTD2

    SOURCE GeneReport for Unigene cluster: Hs.596096
        SABiosciences Custom PCR Arrays for HECTD2
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HECTD2

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

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for HECTD2 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Hectd21 , 5 HECT domain containing 21, 5 89.1(n)1
    89.53(a)1
      19 (31.77 cM)5
    2260981  NM_172637.31  NP_766225.21 
     365546395 
    chicken
    (Gallus gallus)
    Aves HECTD21 HECT domain containing 2 81.24(n)
    83.97(a)
      427031  XM_424632.3  XP_424632.3 
    lizard
    (Anolis carolinensis)
    Reptilia HECTD26
    HECT domain containing E3 ubiquitin protein ligase...
    73(a)
    1 ↔ 1
    GL343219.1(906792-960595)
    zebrafish
    (Danio rerio)
    Actinopterygii hectd21 HECT domain containing 2 72.3(n)
    78.6(a)
      562999  XM_686363.4  XP_691455.4 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HUL4(YJR036C)4 Protein with similarity to hect domain E3 ubiquitin-protein more   --   10(503391-500713) 853494  NP_012570.1 


    ENSEMBL Gene Tree for HECTD2 (if available)
    TreeFam Gene Tree for HECTD2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HECTD2 gene
    HERC32  HERC62  RCCD12  HERC42  UBE3A2  HERC52  
    13 SIMAP similar genes for HECTD2 using alignment to 4 protein entries:     HECD2_HUMAN (see all proteins):
    DKFZp313O1018    UBE3A    DKFZp564G092    HERC3    HERC5    HUWE1
    NEDD4    HERC4    NEDD4L    DKFZp564H223    HECW1    SMURF2
    HECTD1

    HECTD2 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

    1 SNPs in HECTD2 are shown    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0268364
    ----see VAR_0268362 P A mis40--------

    HapMap Linkage Disequilibrium report for HECTD2 (93170096 - 93274586 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/11 variations for HECTD2 (see all 11):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2189509CNV Deletion18987734
    esv2421381CNV Duplication20811451
    nsv7488CNV Insertion18451855
    nsv895891CNV Loss21882294
    dgv801n71CNV Loss21882294
    esv33149CNV Loss17666407
    nsv433413CNV Gain18776910
    esv1767604OTHER Inversion17803354
    nsv436654OTHER Inversion17901297
    esv1003018OTHER Inversion20482838

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    4 diseases for HECTD2:    About MalaCards
    creutzfeldt-jakob syndrome    bovine spongiform encephalopathy    prion disease    alzheimer's disease

    1 disease from the University of Copenhagen DISEASES database for HECTD2:
    Prion disease

    HECTD2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): HECTD2
    Human Genome Epidemiology (HuGE) Navigator: HECTD2 (2 documents)

    Export disorders for HECTD2 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 HECTD2 gene, integrated from 9 sources (see all 17):
    (articles sorted by number of sources associating them with HECTD2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (2006)
    2. 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)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
    5. Large-scale concatenation cDNA sequencing. (PubMed id 9110174)1, 3 Yu W.... Gibbs R.A. (1997)
    6. A "double adaptor" method for improved shotgun library construction. (PubMed id 8619474)1, 3 Andersson B.... Gibbs R.A. (1996)
    7. 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)
    8. Absence of association between two HECTD2 polymorphis ms and sporadic Creutzfeldt-Jakob disease. (PubMed id 21335971)1 Jeong B.H....Kim Y.S. (2011)
    9. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)
    10. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 143279 HGNC: 26736 AceView: HECTD2 Ensembl:ENSG00000165338 euGenes: HUgn143279
    ECgene: HECTD2 H-InvDB: HECTD2

    (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 HECTD2 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 HECTD2 gene:
    Search GeneIP for patents involving HECTD2

    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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