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

HERC2 Gene

protein-coding   GIFtS: 60
GCID: GC15M028356

HECT and RLD domain containing E3 ubiquitin protein ligase...

(Previous name: hect domain and RLD 2 )
 Explore 11 diseases affiliated with
HERC2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for HERC2    

Aliases
for HERC2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase 21 2     SHEP12 5
D15F37S11 2     E3 Ubiquitin-Protein Ligase HERC22
Hect Domain And RLD 21 2     Probable E3 Ubiquitin-Protein Ligase HERC22
Jdf21     EC 6.3.2.-3
P5281     EC 6.3.28
HECT Domain And RCC1-Like Domain-Containing Protein 22 3     

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


Summaries
for HERC2 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NC_018926.1  NT_026446.14  
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

Proteins
for HERC2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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, 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

Post-translational modifications:

  • Phosphorylation at Thr-4827 is required for interaction with RNF81
  • Sumoylated with SUMO1 by PIAS4 in response to double-strand breaks (DSBs), promoting the interaction with RNF81
  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_004658.3  
    ENSEMBL proteins: 
     ENSP00000261609   ENSP00000457745   ENSP00000456237  
    Reactome Protein details: O95714
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    Uscn Proteins for HERC2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005743mitochondrial inner membrane IEA--
    GO:0005814centriole IEA--


    HERC2 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for HERC2

    Protein Domains /
    Families
    for HERC2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HERC2 for domains           About GeneDecksing

    5/11 InterPro domains/families (see all 11):
     IPR006624 Beta-propeller_rpt_TECPR
     IPR004939 APC_su10/DOC_dom
     IPR009091 Reg_csome_cond/b-lactamase_inh
     IPR000569 HECT
     IPR008979 Galactose-bd-like

    Graphical View of Domain Structure for InterPro Entry O95714

    ProtoNet protein and cluster: O95714

    4 Blocks protein families:
    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


    Function
    for HERC2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

         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

    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 plasmid: HERC2 3' UTR sequence
    Inhib. RNA
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    OriGene shRNA RFP: HERC2
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    Gene Editing
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    Clone
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    Cell Line
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    In Situ Assay
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    Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    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


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

    Animal Models:
         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


    Pathways & Interactions
    for HERC2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Antigen processing: Ubiquitination & Proteasome degradation
    		Antigen processing: Ubiquitination & Proteasome degradation1.00
    		Polyubiquitination of substrate0.75
    		Class I MHC mediated antigen processing & presentation0.83
    		Ubiquitin mediated proteolysis0.36
    2Immune System
    		Immune System1.00
    		Adaptive Immune System0.59

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    5        Reactome Pathways for HERC2
        Antigen processing: Ubiquitination & Proteasome degradation
    Polyubiquitination of substrate
    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)

    5/64 Interacting proteins for HERC2 (O957142, 3 ENSP000002616094) via UniProtKB, MINT, STRING, and/or I2D (see all 64)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM1P621583I2D: score=1 
    CALM2P621583I2D: score=1 
    CALM3P621583I2D: score=1 
    SIRT3Q9NTG73, ENSP000003721914I2D: score=2 STRING: ENSP00000372191
    USP16Q9Y5T53, ENSP000003348084I2D: score=2 STRING: ENSP00000334808
    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 IEA--
    GO:0016567protein ubiquitination IDA--


    HERC2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for HERC2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 

    Transcripts
    for HERC2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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


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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
    SwitchGear 3'UTR luciferase reporter plasmid: HERC2 3' UTR sequence
    Inhib. RNA
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    Clone
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    Primer
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    Additional cDNA 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):

    CA952478 BM914490 AA904013 AI689802 AI354690 F07060 AI934999 BQ059143 
    AA480885 BC015486 AI858548 AL135608 BM756644 AA309715 BM755768 AA494510 
    BM784918 BM905291 BC045544 AI570615 AI569730 AI424781 AA864350 CA454983 

    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

    Expression
    for HERC2 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TATATGCCTA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image
    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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    In Situ
    Assay Products:     
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    Orthologs
    for HERC2 gene

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

    Orthologs for HERC2 gene from 7/26 species (see all 26)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 91(a)
    		 1 ↔ 1
    		 3(111528380-111664897)
    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 glo-46
    		 X-linked retinitis pigmentosa GTPase regulator hom...
    		 10(a)
    		 possible ortholog
    		 V(9234601-9243141)
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT5G608706
    AT1G270606
    (see all 11)    		 regulator of chromosome condensation-like protein
    (see all 11)    		 25(a)
    25(a)
    (see all 11)    		 possible ortholog
    possible ortholog
    (see all 11)    		 5(24485655-24487824)
    1(9395023-9396673)
    rice
    (Oryza sativa)    		 Liliopsida --
    --
    (see all 11)    		 E3 ubiquitin-protein ligase HERC2, putative, expre...
    Regulator of chromosome condensation domain contai...
    (see all 11)    		 27(a)
    22(a)
    (see all 11)    		 possible ortholog
    possible ortholog
    (see all 11)    		 9(22268621-22272199)
    1(32927993-32931748)


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

    Paralogs
    for HERC2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for HERC2 gene
    HERC12  HECTD22  HECTD32  HERC32  RCCD12  HERC62  HERC42  UBE3A2  
    HERC52  
    8 SIMAP similar genes for HERC2 using alignment to 7 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


    Genomic Variants
    for HERC2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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


    10/3943 NCBI SNPs in HERC2 are shown (see all 3943)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 15 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    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
    rs4415521,2
    		C,A--6695525(-) tgtacC/Tgcaat 1 -- us2k11Minor allele frequency- T:0.50NA 2
    rs791042391,2
    		--28355723(+) AACATC/TGTGTC 1 -- ds50011Minor allele frequency- T:0.01NA 120
    rs1867567671,2
    		--28355779(+) ATCTGA/GTAGTC 1 -- ds50010--------
    rs1166333321,2
    		--28355887(+) CAAACC/TGTGTA 1 -- ds50011Minor allele frequency- T:0.01WA 118
    rs592254771,2
    		C,--28355970(+) GGGCT-/GGGGAG 1 -- ds50011Minor allele frequency- G:0.00NA 2
    rs47782421,2
    		C,F,A,H,--28355991(+) GAAACC/TCTGAA 1 -- ds500116Minor allele frequency- T:0.04NS EA NA WA CSA 787
    rs47782431,2
    		C,F,A,H,--28356130(+) CTGCTG/ATATCA 1 -- ds500133Minor allele frequency- A:0.14NA NS EA WA CSA 2916
    rs47782441,2
    		C,F,A,H,--28356349(+) GGGAGA/GGGGGA 1 -- ut31 ese3 trp322Minor allele frequency- G:0.26NS EA NA CSA WA 2349

    HapMap Linkage Disequilibrium report for HERC2 (28356186 - 28567298 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 21 variations for HERC2
         15/16 CNVs (see all 16): 87532 76864 3954 32000 32002 66753 87535 66752 37628 30682 87533 32001 76862 76860 30683
         5 Indels: 87534 102065 76863 76861 40075

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for HERC2 gene

    (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.)
    About This Section
    HERC2 for disorders           About GeneDecksing

    OMIM gene information: 605837   
    OMIM disorders: 227220  
    11 diseases for HERC2:    About MalaCards
    skin/hair/eye pigmentation 1, blond/brown hair    skin/hair/eye pigmentation 1, blue/nonblue eyes    ocular albinism    albinism
    ulcerative colitis    angelman syndrome    tremor    crohn's disease
    hepatocellular carcinoma    melanoma    carcinoma

    2 diseases from the University of Copenhagen DISEASES database for HERC2:
    Ocular albinism     Angelman syndrome
    Human Genome Epidemiology (HuGE) Navigator: HERC2 (22 documents)

    Export disorders for HERC2 gene to outside databases

    Publications
    for HERC2 gene

    (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 73):
    (articles sorted by number of sources associating them with HERC2)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. 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)
    2. 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)
    3. 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)
    4. HERC2 coordinates ubiquitin-dependent assembly of DNA repair factors on damaged chromosomes. (PubMed id 20023648)1, 2 Bekker-Jensen S....Mailand N. (2010)
    5. Human eye colour and HERC2, OCA2 and MATP. (PubMed id 20457063)1, 2 Mengel-From J....Morling N. (2010)
    6. 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)
    7. Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. (PubMed id 18252221)1, 2 Kayser M.... van Duijn C.M. (2008)
    8. A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color. (PubMed id 18252222)1, 2 Sturm R.A.... Montgomery G.W. (2008)
    9. Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression. (PubMed id 18172690)1, 2 Eiberg H.... Hansen L. (2008)
    10. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)

    External Searches for HERC2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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      Query String
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    Genome Databases showing HERC2 gene

    (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

    Other Databases showing HERC2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing HERC2 gene

    (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

    Intellectual Property
    for HERC2 gene

    (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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