Format

Send to:

Choose Destination
    • Showing Current items.

    HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2 [ Homo sapiens (human) ]

    Gene ID: 8924, updated on 8-Jul-2021

    Summary

    Official Symbol
    HERC2provided by HGNC
    Official Full Name
    HECT and RLD domain containing E3 ubiquitin protein ligase 2provided by HGNC
    Primary source
    HGNC:HGNC:4868
    See related
    Ensembl:ENSG00000128731 MIM:605837
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    jdf2; p528; MRT38; SHEP1; D15F37S1
    Summary
    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]
    Expression
    Ubiquitous expression in brain (RPKM 8.9), ovary (RPKM 8.1) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See HERC2 in Genome Data Viewer
    Location:
    15q13.1
    Exon count:
    98
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (28111040..28322179, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (28356186..28567325, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene gamma-aminobutyric acid type A receptor subunit gamma3 Neighboring gene Sharpr-MPRA regulatory region 4259 Neighboring gene OCA2 melanosomal transmembrane protein Neighboring gene ribosomal protein L5 pseudogene 32 Neighboring gene pectinesterase inhibitor 10-like Neighboring gene ribosomal protein L41 pseudogene 2 Neighboring gene HERC2 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.
    GeneReviews: Not available
    Digital quantification of human eye color highlights genetic association of three new loci.
    GeneReviews: Not available
    Genetic determinants of hair, eye and skin pigmentation in Europeans.
    GeneReviews: Not available
    Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.
    GeneReviews: Not available
    Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans.
    GeneReviews: Not available
    Genome-wide association studies of quantitatively measured skin, hair, and eye pigmentation in four European populations.
    GeneReviews: Not available
    Mental retardation, autosomal recessive 38
    MedGen: C3809753 OMIM: 615516 GeneReviews: Not available
    Compare labs
    Prader-Willi syndrome
    MedGen: C0032897 OMIM: 176270 GeneReviews: Prader-Willi Syndrome
    Compare labs
    Skin/hair/eye pigmentation, variation in, 1
    MedGen: C1856895 OMIM: 227220 GeneReviews: Not available
    Compare labs
    The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.
    GeneReviews: Not available
    Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.
    GeneReviews: Not available
    Web-based, participant-driven studies yield novel genetic associations for common traits.
    GeneReviews: Not available

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    retropepsin gag-pol HIV-1 PR is identified to have a physical interaction with hect domain and RLD 2 (HERC2) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • KIAA0393, DKFZp547P028

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SUMO binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables guanyl-nucleotide exchange factor activity NAS
    Non-traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables ubiquitin protein ligase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables ubiquitin protein ligase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables zinc ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in DNA repair IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cellular response to DNA damage stimulus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in intracellular protein transport NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in protein ubiquitination IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of catalytic activity IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    located_in centriole IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
     
    located_in membrane HDA PubMed 
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    E3 ubiquitin-protein ligase HERC2
    Names
    HECT-type E3 ubiquitin transferase HERC2
    hect domain and RCC1-like domain-containing protein 2
    hect domain and RLD 2
    probable E3 ubiquitin-protein ligase HERC2
    NP_004658.3
    XP_005268333.1
    XP_006720789.1
    XP_006720790.1
    XP_016878184.1
    XP_016878185.1
    XP_016878186.1
    XP_016878187.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_016355.1 RefSeqGene

      Range
      4998..216113
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_004667.6NP_004658.3  E3 ubiquitin-protein ligase HERC2

      See identical proteins and their annotated locations for NP_004658.3

      Status: REVIEWED

      Source sequence(s)
      AC091304, AC126332, AC135329, AF071172, AI820017, AK122977, AU100235, AW897649, BC148318, BX440995, CF135750, CX784863, DA868501
      Consensus CDS
      CCDS10021.1
      UniProtKB/Swiss-Prot
      O95714
      UniProtKB/TrEMBL
      A8KAQ8
      Related
      ENSP00000261609.8, ENST00000261609.13
      Conserved Domains (10) summary
      cd08664
      Location:27652910
      APC10-HERC2; APC10-like DOC1 domain present in HERC2 (HECT domain and RLD2)
      smart00119
      Location:44644790
      HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
      cd00078
      Location:44214792
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      cd02344
      Location:27062750
      ZZ_HERC2; Zinc finger, ZZ type. Zinc finger present in HERC2 and related proteins. HERC2 is a potential E3 ubiquitin protein ligase and/or guanine nucleotide exchange factor. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or ...
      cd14402
      Location:24602507
      UBA_HERC2; UBA domain found in probable E3 ubiquitin-protein ligase HERC2 and similar proteins
      pfam00173
      Location:12091282
      Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain
      pfam00415
      Location:675724
      RCC1; Regulator of chromosome condensation (RCC1) repeat
      pfam06701
      Location:18701929
      MIB_HERC2; Mib_herc2
      pfam11515
      Location:25542631
      Cul7; Mouse development and cellular proliferation protein Cullin-7
      pfam13540
      Location:40394069
      RCC1_2; Regulator of chromosome condensation (RCC1) repeat

    RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p13 Primary Assembly

      Range
      28111040..28322179 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006720727.3XP_006720790.1  E3 ubiquitin-protein ligase HERC2 isoform X3

      See identical proteins and their annotated locations for XP_006720790.1

      Conserved Domains (10) summary
      cd08664
      Location:26792824
      APC10-HERC2; APC10-like DOC1 domain present in HERC2 (HECT domain and RLD2)
      smart00119
      Location:43784704
      HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
      cd00078
      Location:43354706
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      cd02344
      Location:26202664
      ZZ_HERC2; Zinc finger, ZZ type. Zinc finger present in HERC2 and related proteins. HERC2 is a potential E3 ubiquitin protein ligase and/or guanine nucleotide exchange factor. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or ...
      cd14402
      Location:23742421
      UBA_HERC2; UBA domain found in probable E3 ubiquitin-protein ligase HERC2 and similar proteins
      pfam00173
      Location:11231196
      Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain
      pfam00415
      Location:589638
      RCC1; Regulator of chromosome condensation (RCC1) repeat
      pfam06701
      Location:17841843
      MIB_HERC2; Mib_herc2
      pfam11515
      Location:24682545
      Cul7; Mouse development and cellular proliferation protein Cullin-7
      pfam13540
      Location:39533983
      RCC1_2; Regulator of chromosome condensation (RCC1) repeat
    2. XM_006720726.3XP_006720789.1  E3 ubiquitin-protein ligase HERC2 isoform X1

      See identical proteins and their annotated locations for XP_006720789.1

      Conserved Domains (10) summary
      cd08664
      Location:27602905
      APC10-HERC2; APC10-like DOC1 domain present in HERC2 (HECT domain and RLD2)
      smart00119
      Location:44594785
      HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
      cd00078
      Location:44164787
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      cd02344
      Location:27012745
      ZZ_HERC2; Zinc finger, ZZ type. Zinc finger present in HERC2 and related proteins. HERC2 is a potential E3 ubiquitin protein ligase and/or guanine nucleotide exchange factor. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or ...
      cd14402
      Location:24552502
      UBA_HERC2; UBA domain found in probable E3 ubiquitin-protein ligase HERC2 and similar proteins
      pfam00173
      Location:12041277
      Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain
      pfam00415
      Location:675724
      RCC1; Regulator of chromosome condensation (RCC1) repeat
      pfam06701
      Location:18651924
      MIB_HERC2; Mib_herc2
      pfam11515
      Location:25492626
      Cul7; Mouse development and cellular proliferation protein Cullin-7
      pfam13540
      Location:40344064
      RCC1_2; Regulator of chromosome condensation (RCC1) repeat
    3. XM_005268276.5XP_005268333.1  E3 ubiquitin-protein ligase HERC2 isoform X2

      See identical proteins and their annotated locations for XP_005268333.1

      Conserved Domains (10) summary
      cd08664
      Location:27272872
      APC10-HERC2; APC10-like DOC1 domain present in HERC2 (HECT domain and RLD2)
      smart00119
      Location:44264752
      HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
      cd00078
      Location:43834754
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      cd02344
      Location:26682712
      ZZ_HERC2; Zinc finger, ZZ type. Zinc finger present in HERC2 and related proteins. HERC2 is a potential E3 ubiquitin protein ligase and/or guanine nucleotide exchange factor. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or ...
      cd14402
      Location:24222469
      UBA_HERC2; UBA domain found in probable E3 ubiquitin-protein ligase HERC2 and similar proteins
      pfam00173
      Location:11711244
      Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain
      pfam00415
      Location:637686
      RCC1; Regulator of chromosome condensation (RCC1) repeat
      pfam06701
      Location:18321891
      MIB_HERC2; Mib_herc2
      pfam11515
      Location:25162593
      Cul7; Mouse development and cellular proliferation protein Cullin-7
      pfam13540
      Location:40014031
      RCC1_2; Regulator of chromosome condensation (RCC1) repeat
    4. XM_017022695.1XP_016878184.1  E3 ubiquitin-protein ligase HERC2 isoform X2

      Conserved Domains (10) summary
      cd08664
      Location:27272872
      APC10-HERC2; APC10-like DOC1 domain present in HERC2 (HECT domain and RLD2)
      smart00119
      Location:44264752
      HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
      cd00078
      Location:43834754
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      cd02344
      Location:26682712
      ZZ_HERC2; Zinc finger, ZZ type. Zinc finger present in HERC2 and related proteins. HERC2 is a potential E3 ubiquitin protein ligase and/or guanine nucleotide exchange factor. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or ...
      cd14402
      Location:24222469
      UBA_HERC2; UBA domain found in probable E3 ubiquitin-protein ligase HERC2 and similar proteins
      pfam00173
      Location:11711244
      Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain
      pfam00415
      Location:637686
      RCC1; Regulator of chromosome condensation (RCC1) repeat
      pfam06701
      Location:18321891
      MIB_HERC2; Mib_herc2
      pfam11515
      Location:25162593
      Cul7; Mouse development and cellular proliferation protein Cullin-7
      pfam13540
      Location:40014031
      RCC1_2; Regulator of chromosome condensation (RCC1) repeat
    5. XM_017022696.1XP_016878185.1  E3 ubiquitin-protein ligase HERC2 isoform X2

      Conserved Domains (10) summary
      cd08664
      Location:27272872
      APC10-HERC2; APC10-like DOC1 domain present in HERC2 (HECT domain and RLD2)
      smart00119
      Location:44264752
      HECTc; Domain Homologous to E6-AP Carboxyl Terminus with
      cd00078
      Location:43834754
      HECTc; HECT domain; C-terminal catalytic domain of a subclass of Ubiquitin-protein ligase (E3). It binds specific ubiquitin-conjugating enzymes (E2), accepts ubiquitin from E2, transfers ubiquitin to substrate lysine side chains, and transfers additional ...
      cd02344
      Location:26682712
      ZZ_HERC2; Zinc finger, ZZ type. Zinc finger present in HERC2 and related proteins. HERC2 is a potential E3 ubiquitin protein ligase and/or guanine nucleotide exchange factor. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or ...
      cd14402
      Location:24222469
      UBA_HERC2; UBA domain found in probable E3 ubiquitin-protein ligase HERC2 and similar proteins
      pfam00173
      Location:11711244
      Cyt-b5; Cytochrome b5-like Heme/Steroid binding domain
      pfam00415
      Location:637686
      RCC1; Regulator of chromosome condensation (RCC1) repeat
      pfam06701
      Location:18321891
      MIB_HERC2; Mib_herc2
      pfam11515
      Location:25162593
      Cul7; Mouse development and cellular proliferation protein Cullin-7
      pfam13540
      Location:40014031
      RCC1_2; Regulator of chromosome condensation (RCC1) repeat
    6. XM_017022697.1XP_016878186.1  E3 ubiquitin-protein ligase HERC2 isoform X4

    7. XM_017022698.1XP_016878187.1  E3 ubiquitin-protein ligase HERC2 isoform X4

    RNA

    1. XR_931930.2 RNA Sequence

    2. XR_001751410.1 RNA Sequence

    Reference GRCh38.p13 PATCHES

    Genomic

    1. NW_011332701.1 Reference GRCh38.p13 PATCHES

      Range
      244504..455617 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p13 ALT_REF_LOCI_2

    Genomic

    1. NT_187660.1 Reference GRCh38.p13 ALT_REF_LOCI_2

      Range
      244504..569403 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Support Center