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Gene: HERC2 (HECT and RLD domain containing E3 ubiquitin protein ligase 2) Homo sapiens
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Symbol: HERC2
Name: HECT and RLD domain containing E3 ubiquitin protein ligase 2
RGD ID: 1317498
Description: Exhibits SUMO binding activity; ubiquitin protein ligase activity; and ubiquitin protein ligase binding activity. Involved in cellular response to DNA damage stimulus and protein ubiquitination. Localizes to cytosol; nucleus; and plasma membrane. Implicated in autosomal recessive non-syndromic intellectual disability and pigmentation disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: D15F37S1; DKFZp547P028; E3 ubiquitin-protein ligase HERC2; hect domain and RCC1-like domain-containing protein 2; hect domain and RLD 2; HECT-type E3 ubiquitin transferase HERC2; jdf2; KIAA0393; MRT38; p528; probable E3 ubiquitin-protein ligase HERC2; SHEP1
Orthologs:
Related Pseudogenes: AC055876.2   HERC2P1   HERC2P10   HERC2P11   HERC2P2   HERC2P3   HERC2P4   HERC2P5   HERC2P6   HERC2P7   HERC2P8   HERC2P9   LOC100419579   LOC102723534   LOC102723753  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1528,111,040 - 28,322,172 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1528,111,040 - 28,322,179 (-)EnsemblGRCh38hg38GRCh38
GRCh381528,111,040 - 28,322,179 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371528,356,183 - 28,567,313 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361526,029,781 - 26,240,890 (-)NCBINCBI36hg18NCBI36
Build 341526,029,782 - 26,240,845NCBI
Celera156,513,422 - 6,701,708 (-)NCBI
Cytogenetic Map15q13.1NCBI
HuRef156,482,549 - 6,693,549 (-)NCBIHuRef
CHM1_11528,305,169 - 28,516,258 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
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Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Expression

RNA-SEQ Expression

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on HERC2
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1317498
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2020-09-23
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.