full name
HECT and RLD domain containing E3 ubiquitin protein ligase 2

synonyms
D15F37S1, jdf2, p528, SHEP1, HERC2, ENSG00000128731

HGNC
HGNC:4868

Entrez Gene
Gene:8924

ENSEMBL
ENSG00000128731
ENSG00000263162

location
chr: 15
start: 28356183
stop: 28567313
strand: -

OMIM
OMIM:605837: HERC2 (Autosomal recessive inheritance)
OMIM:615516: Mental retardation, autosomal recessive 38
OMIM:227220: [Skin/hair/eye pigmentation 1, blond/brown hair]
OMIM:227220: [Skin/hair/eye pigmentation 1, blue/nonblue eyes]

transcripts
NM_004667.5

pathways
Adaptive Immune System [NCBI:1269171] [REACTOME:R-HSA-1280218] [PUBMED:16551257] [PUBMED:21682741] [PUBMED:11861602]
Antigen processing: Ubiquitination & Proteasome degradation [NCBI:1269193] [REACTOME:R-HSA-983168] [PUBMED:12648452] [PUBMED:11917093] [PUBMED:19489725] [PUBMED:14734113] [PUBMED:20351195] [PUBMED:17145306]
Cell Cycle [NCBI:1269741] [REACTOME:R-HSA-1640170]
Cell Cycle Checkpoints [NCBI:1269742] [REACTOME:R-HSA-69620]
Class I MHC mediated antigen processing & presentation [NCBI:1269192] [REACTOME:R-HSA-983169] [PUBMED:8717519] [PUBMED:17145306] [PUBMED:18926908] [PUBMED:17055423] [PUBMED:12495737] [PUBMED:18641646] [PUBMED:18243674]
DNA Double Strand Break Response [NCBI:1309096] [REACTOME:R-HSA-5693606] [PUBMED:20965415]
DNA Double-Strand Break Repair [NCBI:1309095] [REACTOME:R-HSA-5693532] [PUBMED:12897142] [PUBMED:20965415]
DNA Repair [NCBI:1270350] [REACTOME:R-HSA-73894] [PUBMED:10583946] [PUBMED:23175119]
G2/M Checkpoints [NCBI:1269753] [REACTOME:R-HSA-69481]
G2/M DNA damage checkpoint [NCBI:1269754] [REACTOME:R-HSA-69473]
HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA) [NCBI:1309100] [REACTOME:R-HSA-5693567] [PUBMED:20965415]
Homology Directed Repair [NCBI:1309099] [REACTOME:R-HSA-5693538] [PUBMED:11242102] [PUBMED:20965415] [PUBMED:11376695] [PUBMED:12427531]
Immune System [NCBI:1269170] [REACTOME:R-HSA-168256]
Metabolism of proteins [NCBI:1268677] [REACTOME:R-HSA-392499]
Nonhomologous End-Joining (NHEJ) [NCBI:1309110] [REACTOME:R-HSA-5693571] [PUBMED:10802669] [PUBMED:21293379] [PUBMED:16914548] [PUBMED:12509254] [PUBMED:12607005] [PUBMED:17470781] [PUBMED:12364621] [PUBMED:11493912] [PUBMED:23333306] [PUBMED:22179609] [PUBMED:25512557] [PUBMED:22529269] [PUBMED:23505375] [PUBMED:15574327] [PUBMED:12077346] [PUBMED:11030616] [PUBMED:14561766] [PUBMED:8422676] [PUBMED:23727112] [PUBMED:17525340] [PUBMED:23306437] [PUBMED:10757784] [PUBMED:16439205] [PUBMED:10959836] [PUBMED:15790808] [PUBMED:16377563] [PUBMED:11955432] [PUBMED:22373579] [PUBMED:19001859] [PUBMED:12023295] [PUBMED:15451442] [PUBMED:16093244] [PUBMED:10572166]
Post-translational protein modification [NCBI:1268701] [REACTOME:R-HSA-597592]
Processing of DNA double-strand break ends [NCBI:1309101] [REACTOME:R-HSA-5693607] [PUBMED:25122754] [PUBMED:18171670] [PUBMED:20965415] [PUBMED:22231403] [PUBMED:25558984] [PUBMED:19357644] [PUBMED:21325134] [PUBMED:21240188] [PUBMED:21659603] [PUBMED:23468639] [PUBMED:25659039]
Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks [NCBI:1309098] [REACTOME:R-HSA-5693565] [PUBMED:18483401] [PUBMED:21293379] [PUBMED:10866324] [PUBMED:9488723] [PUBMED:18001825] [PUBMED:18006705] [PUBMED:11571274] [PUBMED:12364621] [PUBMED:22234877] [PUBMED:10802669] [PUBMED:17553757] [PUBMED:10550055] [PUBMED:23333306] [PUBMED:20023648] [PUBMED:18077395] [PUBMED:19203578] [PUBMED:22373579] [PUBMED:19203579] [PUBMED:19234442] [PUBMED:16377563] [PUBMED:15201865] [PUBMED:19092802] [PUBMED:17525340] [PUBMED:22589545] [PUBMED:11025670] [PUBMED:16651405] [PUBMED:19001859] [PUBMED:18001824]
SUMO E3 ligases SUMOylate target proteins [NCBI:1268743] [REACTOME:R-HSA-3108232] [PUBMED:20674646] [PUBMED:17763827] [PUBMED:19471022] [PUBMED:23746258] [PUBMED:24016193] [PUBMED:23503365] [PUBMED:21252943] [PUBMED:17000644] [PUBMED:24273646] [PUBMED:22811915] [PUBMED:21693764] [PUBMED:23277067] [PUBMED:21102611]
SUMOylation [NCBI:1268738] [REACTOME:R-HSA-2990846] [PUBMED:21102611] [PUBMED:20674646] [PUBMED:23514139] [PUBMED:19923268] [PUBMED:20462400] [PUBMED:17768054]
SUMOylation of DNA damage response and repair proteins [NCBI:1268744] [REACTOME:R-HSA-3108214] [PUBMED:22018829] [PUBMED:24926426] [PUBMED:23122649] [PUBMED:23781231] [PUBMED:23416108] [PUBMED:21486569] [PUBMED:23746258] [PUBMED:21896653] [PUBMED:22357966] [PUBMED:21664912]
Ubiquitin mediated proteolysis [NCBI:83056] [KEGG:hsa04120] [PUBMED:16405856] [PUBMED:12944364] [PUBMED:16922408] [PUBMED:17588513] [PUBMED:16922367] [PUBMED:16922370] [PUBMED:16816840]