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

Gene ID: 8924, updated on 22-Nov-2020

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

Genomic context

See HERC2 in Genome Data Viewer
Location:
15q13.1
Exon count:
98
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 15 NC_000015.10 (28111040..28322179, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (28356183..28567313, 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 hect domain and RLD 2 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
SUMO binding IDA
Inferred from Direct Assay
more info
PubMed 
guanyl-nucleotide exchange factor activity NAS
Non-traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
ubiquitin protein ligase activity IDA
Inferred from Direct Assay
more info
PubMed 
ubiquitin protein ligase binding IPI
Inferred from Physical Interaction
more info
PubMed 
zinc ion binding IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cellular response to DNA damage stimulus IDA
Inferred from Direct Assay
more info
PubMed 
double-strand break repair via nonhomologous end joining TAS
Traceable Author Statement
more info
 
intracellular protein transport NAS
Non-traceable Author Statement
more info
PubMed 
proteasome-mediated ubiquitin-dependent protein catabolic process IEA
Inferred from Electronic Annotation
more info
 
protein ubiquitination IDA
Inferred from Direct Assay
more info
PubMed 
protein ubiquitination IEA
Inferred from Electronic Annotation
more info
 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
centriole IEA
Inferred from Electronic Annotation
more info
 
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol IDA
Inferred from Direct Assay
more info
 
membrane HDA PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
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)

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
    ENSP00000261609.7, ENST00000261609.12
    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 109.20200815

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)
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