HERC2 (HECT and RLD domain containing E3 ubiquitin protein ligase 2)

2007-04-01  

Identity

HGNC
LOCATION
15q11.2
LOCUSID
ALIAS
D15F37S1,MRT38,SHEP1,jdf2,p528
FUSION GENES

Other Information

Locus ID:

NCBI: 8924
MIM: 605837
HGNC: 4868
Ensembl: ENSG00000128731

Variants:

dbSNP: 8924
ClinVar: 8924
TCGA: ENSG00000128731
COSMIC: HERC2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000128731ENST00000261609O95714
ENSG00000128731ENST00000564734H3BRG9
ENSG00000128731ENST00000569772H3BUQ1
ENSG00000128731ENST00000650509A0A3B3IRP6

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
Ubiquitin mediated proteolysisKEGGko04120
Ubiquitin mediated proteolysisKEGGhsa04120
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
SUMOylationREACTOMER-HSA-2990846
SUMO E3 ligases SUMOylate target proteinsREACTOMER-HSA-3108232
SUMOylation of DNA damage response and repair proteinsREACTOMER-HSA-3108214
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Class I MHC mediated antigen processing & presentationREACTOMER-HSA-983169
Antigen processing: Ubiquitination & Proteasome degradationREACTOMER-HSA-983168
Cell CycleREACTOMER-HSA-1640170
Cell Cycle CheckpointsREACTOMER-HSA-69620
G2/M CheckpointsREACTOMER-HSA-69481
G2/M DNA damage checkpointREACTOMER-HSA-69473
DNA RepairREACTOMER-HSA-73894
DNA Double-Strand Break RepairREACTOMER-HSA-5693532
DNA Double Strand Break ResponseREACTOMER-HSA-5693606
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaksREACTOMER-HSA-5693565
Homology Directed RepairREACTOMER-HSA-5693538
HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA)REACTOMER-HSA-5693567
Processing of DNA double-strand break endsREACTOMER-HSA-5693607
Nonhomologous End-Joining (NHEJ)REACTOMER-HSA-5693571

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
184835562008A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.168
205856272010Web-based, participant-driven studies yield novel genetic associations for common traits.155
184384052008Replication of signals from recent studies of Crohn's disease identifies previously unknown disease loci for ulcerative colitis.128
184384052008Replication of signals from recent studies of Crohn's disease identifies previously unknown disease loci for ulcerative colitis.128
182522222008A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.107
182522222008A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.107
181726902008Blue 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.89
222348902012HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter.89
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
203048032010Circadian control of XPA and excision repair of cisplatin-DNA damage by cryptochrome and HERC2 ubiquitin ligase.82

Citation

Dessen P

HERC2 (HECT and RLD domain containing E3 ubiquitin protein ligase 2)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46802/herc2