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

HERC2 Gene

protein-coding   GIFtS: 61
GCID: GC15M028356

HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase...

(Previous name: hect domain and RLD 2)
  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 And RLD Domain Containing E3 Ubiquitin Protein Ligase 21 2     jdf22
Hect Domain And RLD 21 2     p5282
HECT Domain And RCC1-Like Domain-Containing Protein 22 3     Probable E3 Ubiquitin-Protein Ligase HERC22
SHEP12 5     EC 6.3.2.-3
D15F37S12     EC 6.3.28
E3 Ubiquitin-Protein Ligase HERC22     

External Ids:    HGNC: 48681   Entrez Gene: 89242   Ensembl: ENSG000001287317   OMIM: 6058375   UniProtKB: O957143   

Export aliases for HERC2 gene to outside databases

Previous GC identifers: GC15M024428 GC15M021248 GC15M025823 GC15M025958 GC15M026029 GC15M006482


(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 HERC2 Gene:
This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple
structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle
regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin
protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability.
Multiple pseudogenes of this gene are located on chromosomes 15 and 16. (provided by RefSeq, Mar 2012)

GeneCards Summary for HERC2 Gene: 
HERC2 (HECT and RLD domain containing E3 ubiquitin protein ligase 2) is a protein-coding gene. Diseases associated with HERC2 include developmental delay with autism spectrum disorder and gait instability, and ocular albinism, and among its related super-pathways are Antigen processing: Ubiquitination & Proteasome degradation and Immune System. GO annotations related to this gene include ubiquitin-protein ligase activity and heme binding. An important paralog of this gene is HERC1.

UniProtKB/Swiss-Prot: HERC2_HUMAN, O95714
Function: E3 ubiquitin-protein ligase that regulates ubiquitin-dependent retention of repair proteins on damaged
chromosomes. Recruited to sites of DNA damage in response to ionizing radiation (IR) and facilitates the assembly
of UBE2N and RNF8 promoting DNA damage-induced formation of 'Lys-63'-linked ubiquitin chains. Acts as a mediator
of binding specificity between UBE2N and RNF8. Involved in the maintenance of RNF168 levels. E3 ubiquitin-protein
ligase that promotes the ubiquitination and proteasomal degradation of XPA which influences the circadian
oscillation of DNA excision repair activity

Gene Wiki entry for HERC2 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NT_026446.14  NC_018926.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the HERC2 gene promoter:
         NF-1   NF-1/L   AP-1   Pbx1a   p53   POU3F1   Bach2   HSF1 (long)   CUTL1   HSF1short   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for HERC2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HERC2


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

Entrez Gene cytogenetic band: 15q13   Ensembl cytogenetic band:  15q13.1   HGNC cytogenetic band: 15q13

HERC2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HERC2 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M028356:  view genomic region     (about GC identifiers)

Start:
28,356,186 bp from pter      End:
28,567,298 bp from pter
Size:
211,113 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: HERC2_HUMAN, O95714 (See protein sequence)
Recommended Name: E3 ubiquitin-protein ligase HERC2  
Size: 4834 amino acids; 527228 Da
Subunit: Interacts (when phosphorylated at Thr-4827 and sumoylated) with RNF8 (via FHA domain); this interaction
increases after ionizing radiation (IR) treatment. Interacts with XPA. Interacts with NEURL4. Via its interaction
with NEURL4, may indirectly interact with CCP110 and CEP97
Subcellular location: Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriole.
Nucleus. Note=Recruited to sites of DNA damage in response to ionizing radiation (IR) via its interaction with
RNF8. May loose association with centrosomes during mitosis
Miscellaneous: A regulatory element withinin an intron of the HERC2 gene inhibits OCA2 promoter. There are several
single nucleotide polymorphisms within the OCA2 gene and within the HERC2 gene that have a statistical
association with human eye color
2 PDB 3D structures from and Proteopedia for HERC2:
2KEO (3D)        3KCI (3D)    
Secondary accessions: Q86SV7 Q86SV8 Q86SV9 Q86YY3 Q86YY4 Q86YY5 Q86YY6 Q86YY7 Q86YY8 Q86YY9
Q86YZ0 Q86YZ1

Explore the universe of human proteins at neXtProt for HERC2: NX_O95714

Explore proteomics data for HERC2 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylation at Thr-4827 is required for interaction with RNF8
  • UniProtKB: Sumoylated with SUMO1 by PIAS4 in response to double-strand breaks (DSBs), promoting the interaction with RNF8
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O95714

  • 4/6 DME Specific Peptides for HERC2 (O95714) (see all 6)
     GELYTWG  ACGSSHS  GQVYAWG  GKLGRGGS 

    HERC2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    HERC2 Protein Expression
    REFSEQ proteins: NP_004658.3  
    ENSEMBL proteins: 
     ENSP00000261609   ENSP00000457745   ENSP00000456237  
    Reactome Protein details: O95714
    Human Recombinant Protein Products for HERC2: 
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    Cloud-Clone Corp. Proteins for HERC2 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005743mitochondrial inner membrane ----
    GO:0005814centriole IEA--

    HERC2 for ontologies           About GeneDecksing



    HERC2 Antibody Products: 
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    Cloud-Clone Corp. ELISAs for HERC2 
    Cloud-Clone Corp. CLIAs for HERC2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5/11 InterPro protein domains (see all 11):
     IPR006624 Beta-propeller_rpt_TECPR
     IPR004939 APC_su10/DOC_dom
     IPR009091 RCC1/BLIP-II
     IPR000569 HECT
     IPR008979 Galactose-bd-like

    Graphical View of Domain Structure for InterPro Entry O95714

    ProtoNet protein and cluster: O95714

    4 Blocks protein domains:
    IPB000433 Zn-finger
    IPB000569 HECT domain (Ubiquitin-protein ligase)
    IPB001199 Cytochrome b5
    IPB010606 Mib_herc2


    UniProtKB/Swiss-Prot: HERC2_HUMAN, O95714
    Domain: The ZZ-type zinc finger mediates binding to SUMO1, and at lowe level SUMO2
    Similarity: Contains 1 cytochrome b5 heme-binding domain
    Similarity: Contains 1 DOC domain
    Similarity: Contains 1 HECT (E6AP-type E3 ubiquitin-protein ligase) domain
    Similarity: Contains 1 MIB/HERC2 domain
    Similarity: Contains 19 RCC1 repeats
    Similarity: Contains 6 WD repeats
    Similarity: Contains 1 ZZ-type zinc finger


    HERC2 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: HERC2_HUMAN, O95714
    Function: E3 ubiquitin-protein ligase that regulates ubiquitin-dependent retention of repair proteins on damaged
    chromosomes. Recruited to sites of DNA damage in response to ionizing radiation (IR) and facilitates the assembly
    of UBE2N and RNF8 promoting DNA damage-induced formation of 'Lys-63'-linked ubiquitin chains. Acts as a mediator
    of binding specificity between UBE2N and RNF8. Involved in the maintenance of RNF168 levels. E3 ubiquitin-protein
    ligase that promotes the ubiquitination and proteasomal degradation of XPA which influences the circadian
    oscillation of DNA excision repair activity

         Genatlas biochemistry entry for HERC2:
    HECT domain and RLD2,ancestral gene of a superfamily of low-copy repeat sequences in the PWCR/ANCR breakpoint
    cluster region

         Enzyme Numbers (IUBMB): EC 6.3.2.-1 EC 6.3.22

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842ubiquitin-protein ligase activity IDA--
    GO:0005085guanyl-nucleotide exchange factor activity NAS9949213
    GO:0005515protein binding IPI--
    GO:0008270zinc ion binding IEA--
    GO:0020037heme binding IEA--
         
    HERC2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for HERC2:
     Decreased cilium length  Decreased cilium length after  

         5 MGI mutant phenotypes (inferred from 11 alleles(MGI details for Herc2):
     behavior/neurological  endocrine/exocrine gland  growth/size  mortality/aging  reproductive system 

    HERC2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for HERC2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for HERC2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for HERC2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for HERC2 

    miRNA
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    hsa-miR-30c hsa-miR-4307 hsa-miR-300 hsa-miR-323b-3p hsa-miR-25 hsa-miR-374a hsa-miR-30d hsa-miR-103a
    SwitchGear 3'UTR luciferase reporter plasmidHERC2 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    (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 HERC2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Antigen processing: Ubiquitination & Proteasome degradation
    Antigen processing: Ubiquitination & Proteasome degradation0.83
    Ubiquitin mediated proteolysis0.36
    Class I MHC mediated antigen processing & presentation0.83
    2Immune System
    Immune System0.56
    Adaptive Immune System0.56

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4        Reactome Pathways for HERC2
        Antigen processing: Ubiquitination & Proteasome degradation
    Adaptive Immune System
    Class I MHC mediated antigen processing & presentation
    Immune System


    1         Kegg Pathway  (Kegg details for HERC2):
        Ubiquitin mediated proteolysis

    UniProtKB/Swiss-Prot: HERC2_HUMAN, O95714
    Pathway: Protein modification; protein ubiquitination


    HERC2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for HERC2

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

    5/70 Interacting proteins for HERC2 (O957142, 3 ENSP000002616094) via UniProtKB, MINT, STRING, and/or I2D (see all 70)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000206481Q146763, ENSP000003730604I2D: score=1 STRING: ENSP00000373060
    ENSG00000224587Q146763I2D: score=1 
    ENSG00000225589Q146763I2D: score=1 
    ENSG00000228575Q146763I2D: score=1 
    ENSG00000231135Q146763I2D: score=1 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006281DNA repair IDA--
    GO:0006886intracellular protein transport NAS9949213
    GO:0006974response to DNA damage stimulus IDA--
    GO:0007283spermatogenesis ----
    GO:0016567protein ubiquitination IDA--

    HERC2 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 HERC2

    5 HMDB Compounds for HERC2    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--
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--

    Search CenterWatch for drugs/clinical trials and news about HERC2

    (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 HERC2 gene: 
    NM_004667.5  

    Unigene Clusters for HERC2:

    HECT and RLD domain containing E3 ubiquitin protein ligase 2
    Hs.434890  [show with all ESTs], Hs.741019
    Unigene Representative Sequences: NM_004667, BC015486
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000261609(uc001zbj.3 uc001zbl.1) ENST00000566635(uc001zbi.3)
    ENST00000562136 ENST00000568206 ENST00000564519 ENST00000569772 ENST00000567869(uc001zbk.1)
    ENST00000569335 ENST00000564734 ENST00000563670 ENST00000564383 ENST00000563945

    miRNA
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    8/26 QIAGEN miScript miRNA Assays for microRNAs that regulate HERC2 (see all 26):
    hsa-miR-30c hsa-miR-4307 hsa-miR-300 hsa-miR-323b-3p hsa-miR-25 hsa-miR-374a hsa-miR-30d hsa-miR-103a
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HERC2

    Additional mRNA sequence: BC015486.1 

    24/31 DOTS entries (see all 31):

    DT.116046  DT.99931551  DT.95302840  DT.100774073  DT.100824636  DT.102845477  DT.121014310  DT.91947725 
    DT.101960363  DT.405239  DT.95155987  DT.121014289  DT.121014472  DT.121014530  DT.121039516  DT.40125941 
    DT.427573  DT.91756145  DT.100748084  DT.100913568  DT.102840141  DT.121014287  DT.121014410  DT.121060938 

    24/215 AceView cDNA sequences (see all 215):

    AI858548 AI934999 CD671427 BM873387 BQ059143 AA480943 BC045544 BX116183 
    BM561251 CA952531 AA904013 AI570615 AI354690 AA864350 H06015 CA454983 
    AI569730 AA480885 CA952478 BM784918 AA309715 AL135608 BC015486 AI424781 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for HERC2    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7
    SP1:                          -                           
    SP2:                                                      


    ECgene alternative splicing isoforms for HERC2

    (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

    HERC2 expression in normal human tissues (normalized intensities)      HERC2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATATGCCTA
    HERC2 Expression
    About this image


    HERC2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             retinal progenitor cell e12.5   
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Myoblasts Mandibular Arch Muscles
     
     Gonad (Reproductive System)
             Primordial Germ Cells Primitive Gonad
     
     Blood (Hematopoietic System)
             pre Conventional Dendritic Cells Peripheral Blood
     
     Lymph (Hematopoietic System)
             lymph node   

    See HERC2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for HERC2

    SOURCE GeneReport for Unigene clusters: Hs.434890 Hs.741019
        SABiosciences Expression via Pathway-Focused PCR Array including HERC2: 
              Ubiquitin Ligases in human mouse rat

    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat HERC2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HERC2

    (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.

    Orthologs for HERC2 gene from 6/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Herc21 , 5 hect (homologous to the E6-AP (UBE3A) carboxyl terminus) more1, 5 87.34(n)1
    95.64(a)1
      7 (33.42 cM)5
    152041  NM_010418.21  NP_034548.21 
     560501555 
    chicken
    (Gallus gallus)
    Aves HERC21 hect domain and RLD 2 78.92(n)
    91.62(a)
      418682  NM_001252376.1  NP_001239305.1 
    lizard
    (Anolis carolinensis)
    Reptilia HERC26
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)
    91(a)
    28(a)
    (see all 3)
    1 ↔ 1
    possible ortholog
    (see all 3)
    3(111524805-111671066)
    AAWZ02039590(3786-8203)
    zebrafish
    (Danio rerio)
    Actinopterygii herc21 hect domain and RLD 2 74.43(n)
    85.26(a)
      558479  XM_681697.5  XP_686789.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta HERC21 , 3 guanyl-nucleotide exchange factor3
    CG11734-PC1
    68(a)3
    52.37(n)1
    48.03(a)1
      330351  NM_134544.21  NP_608388.21 
    worm
    (Caenorhabditis elegans)
    Secernentea K11D2.16
    Protein K11D2.1
    21(a)
    possible ortholog
    I(12497460-12504938)


    ENSEMBL Gene Tree for HERC2 (if available)
    TreeFam Gene Tree for HERC2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HERC2 gene
    HERC12  NEDD4L2  HECW22  HECTD32  WWP22  HECW12  SMURF22  SMURF12  
    HUWE12  NEDD42  WWP12  ITCH2  
    8 SIMAP similar genes for HERC2 using alignment to 6 protein entries:     HERC2_HUMAN (see all proteins):
    DKFZp547P028    DKFZp781N1423    HERC2P3    DKFZp564H223    HERC3    SMURF2
    HUWE1    WUGSC

    HERC2 for paralogs           About GeneDecksing


    5/14 Pseudogenes.org Pseudogenes for HERC2 (see all 14)
    PGOHUM00000246617 PGOHUM00000246665 PGOHUM00000246695 PGOHUM00000246697 PGOHUM00000246959


    (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

    UniProtKB/Swiss-Prot: HERC2_HUMAN, O95714
    Polymorphism: Genetic variants in HERC2 define the skin/hair/eye pigmentation variation locus 1 (SHEP1)
    [MIM:227220]; also known as skin/hair/eye pigmentation type 1, blue/nonblue eyes or skin/hair/eye pigmentation
    type 1, blue/brown eyes or skin/hair/eye pigmentation type 1, blond/brown hair or eye color, brown/blue or eye
    color, blue/nonblue or eye color type 3 (EYCL3) or brown eye color type 2 (BEY2) or hair color type 3 (HCL3).
    Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad
    normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to
    have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in
    human eye and hair color is found among individuals of European ancestry, with most other human populations fixed
    for brown eyes and black hair


    10/4988 SNPs in HERC2 are shown (see all 4988)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0692824
    ----see VAR_0692822 P L mis40--------
    rs1405601751,2
    --6694552(+) GGTCTC/TACTTT 1 -- us2k10--------
    rs1869938661,2
    --6694591(+) ATCTTG/TGCTCA 1 -- us2k10--------
    rs1931797741,2
    --6694599(+) TCATTG/TTAACC 1 -- us2k10--------
    rs790428651,2
    F--6695178(+) TTATTG/AAAATC 1 -- us2k11Minor allele frequency- A:0.50NA 4
    rs10588321,2
    F--6695259(+) GTCACC/TACACC 1 -- us2k11Minor allele frequency- T:0.04MN 184
    rs752512031,2
    C--6695513(+) TAATAG/TTAACT 1 -- us2k10--------
    rs4415521,2
    C,A--6695525(-) tgtacC/Tgcaat 1 -- us2k11Minor allele frequency- T:0.50NA 2
    rs791042391,2
    C,F--8349194(+) AACATC/TGTGTC 1 -- ds50011Minor allele frequency- T:0.01NA 120
    rs1867567671,2
    --8349250(+) ATCTGA/GTAGTC 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for HERC2 (28356186 - 28567298 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/21 variations for HERC2 (see all 21):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2749505CNV Deletion23290073
    esv2674813CNV Deletion23128226
    esv2749504CNV Deletion23290073
    esv2475219CNV Insertion19546169
    dgv2287n71CNV Loss21882294
    nsv9206CNV Loss18304495
    nsv428299CNV Loss18775914
    nsv469883CNV Gain16826518
    nsv9207CNV Gain18304495
    nsv903743CNV Gain21882294


    Human Gene Mutation Database (HGMD): HERC2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing HERC2
    DNA2.0 Custom Variant and Variant Library Synthesis for HERC2

    (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: 605837   
    OMIM disorders: 227220  
    UniProtKB/Swiss-Prot: HERC2_HUMAN, O95714
  • Note=Defects in HERC2 may be responsible for an autism spectrum disorder (ASD), characterized by
    cognitive delay, autistic behavior and gait instability

  • 14 diseases for HERC2:    About MalaCards
    developmental delay with autism spectrum disorder and gait instability    ocular albinism    albinism    tremor
    vitiligo    angelman syndrome    retinitis pigmentosa    prader-willi syndrome
    crohn's disease    ulcerative colitis    type 1 diabetes    retinitis
    hepatocellular carcinoma    melanoma

    1 disease from the University of Copenhagen DISEASES database for HERC2:
    Angelman syndrome

    HERC2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): HERC2
    Human Genome Epidemiology (HuGE) Navigator: HERC2 (22 documents)

    Export disorders for HERC2 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 HERC2 gene, integrated from 9 sources (see all 82):
    (articles sorted by number of sources associating them with HERC2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. (PubMed id 18252221)1, 2, 4 Kayser M.... van Duijn C.M. (2008)
    2. The ancestral gene for transcribed, low-copy repeats in the Prader- Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities. (PubMed id 9949213)1, 2, 3 Ji Y.... Nicholls R.D. (1999)
    3. DNA damage-inducible SUMOylation of HERC2 promotes RNF 8 binding via a novel SUMO-binding Zinc finger. (PubMed id 22508508)1, 2 Danielsen J.R....Mailand N. (2012)
    4. Interaction proteomics identify NEURL4 and the HECT E3 ligase HERC2 as novel modulators of centrosome architecture. (PubMed id 22261722)1, 2 Al-Hakim A.K....Pelletier L. (2012)
    5. A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder. (PubMed id 23065719)1, 2 Puffenberger E.G.... Strauss K.A. (2012)
    6. HERC2 coordinates ubiquitin-dependent assembly of DNA repair factors on damaged chromosomes. (PubMed id 20023648)1, 2 Bekker-Jensen S....Mailand N. (2010)
    7. Genetic analysis of three important genes in pigmenta tion and melanoma susceptibility: CDKN2A, MC1R and HERC2/OCA2. (PubMed id 20629734)1, 4 Ibarrola-Villava M....Ribas G. (2010)
    8. Human eye colour and HERC2, OCA2 and MATP. (PubMed id 20457063)1, 2 Mengel-From J....Morling N. (2010)
    9. Circadian control of XPA and excision repair of cisplatin-DNA damage by cryptochrome and HERC2 ubiquitin ligase. (PubMed id 20304803)1, 2 Kang T.H.... Sancar A. (2010)
    10. Web-based, participant-driven studies yield novel gen etic associations for common traits. (PubMed id 20585627)1, 4 Eriksson N....Mountain J. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 8924 HGNC: 4868 AceView: HERC2 Ensembl:ENSG00000128731 euGenes: HUgn8924
    ECgene: HERC2 Kegg: 8924 H-InvDB: HERC2

    (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 HERC2 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 HERC2 gene:
    Search GeneIP for patents involving HERC2

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



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    About This Section

     
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