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HERC2

HERC2, or HECT and RLD domain containing E3 ubiquitin protein ligase 2, is a giant E3 ubiquitin protein ligase, implicated in DNA repair regulation, pigmentation and neurological disorders. It is encoded by a gene of the same name belonging to the HERC family, which typically encodes large protein products with C-terminal HECT domains and one or more…

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Protein function

Iris colourSkinHairBlue eyesGenotype
22 related topics

History

PhenotypesAlleles
2 related topics

Gene locus

ExonsCpGPromoterSNPsIntrons
6 related topics

Clinical significance

Angelman syndromeOld Order AmishAutismUveal melanomaColorectal cancers
6 related topics

Key facts & relationships

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2.3.2.26
↗
Aliases
HERC2, p528, D15F37S1, MRT38, SHEP1, jdf2, HECT and RLD domain containing E3 ubiquitin protein ligase 2, LOC107987422
Available structures
Available structuresPDBOrtholog search: PDBe RCSB List of PDB id codes2KEO, 3KCI, 4L1M
Band
15q13.1 · 7 B5|7 33.42 cM
Bgee
sural nerve · right hemisphere of cerebellum · pituitary gland · corpus callosum · muscle layer of sigmoid colon
BioGPS
More reference expression data

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Overview

History

Gene locus

Protein function

Clinical significance

Interactions

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HERC2

Nodes54
Edges53
Triples153
Avg. degree1.96
Density0.037037
Components1

How this topic connects Entity context

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HERC2

Top relations

Gene ontology · 24
HERC2 → cellular response to DNA damage stimulus, centriole, cytoplasm, cytoskeleton, DNA repair, double-strand break repair via nonhomologous end joining, guanyl-nucleotide exchange factor activity, intracellular protein transport, membrane, metal ion binding, mitochondrial inner membrane, nucleoplasm, nucleus, proteasome-mediated ubiquitin-dependent protein catabolic process, protein binding, protein ubiquitination, regulation of molecular function, spermatogenesis, SUMO binding, transferase activity
Bgee · 19
HERC2 → anterior pituitary, cerebellar cortex, corpus callosum, dentate gyrus of hippocampal formation granule cell, medial dorsal nucleus, medial vestibular nucleus, muscle layer of sigmoid colon, muscle of thigh, neural layer of retina, pituitary gland, prefrontal cortex, primary visual cortex, right frontal lobe, right hemisphere of cerebellum, secondary oocyte, superior frontal gyrus, sural nerve, ventral tegmental area, zygote
RNA expression pattern · 19
HERC2 → anterior pituitary, cerebellar cortex, corpus callosum, dentate gyrus of hippocampal formation granule cell, medial dorsal nucleus, medial vestibular nucleus, muscle layer of sigmoid colon, muscle of thigh, neural layer of retina, pituitary gland, prefrontal cortex, primary visual cortex, right frontal lobe, right hemisphere of cerebellum, secondary oocyte, superior frontal gyrus, sural nerve, ventral tegmental area, zygote
related to Clinical significance · 14
HERC2 → Angelman, AS, E6AP, E6AP E3, HER2, In, In Old Order Amish, Its, OCA2, RLD, Similar, The, These, While
related to Pigmentation · 12
HERC2 → Americas, Europe, In, Near East, Nonetheless, North Africa, OCA2, Oceania, SNP, SNPs, The, This
related to Protein structure · 12
HERC2 → DNA, E3, HECT, HERC, In, It, N-terminal, RLD, SUMOylation, This, While, ZZ-type
related to DNA repair pathways · 8
HERC2 → Chk1, Chk1-directed DNA, DNA, It, Regulating DNA, This, Under, USP20
related to Gene locus · 6
HERC2 → At, CpG, OCA2, SNPs, The, This
related to Iron metabolism · 5
HERC2 → Depletion, F-box, FBXL5, IR2, Iron
related to Evolution · 3
HERC2 → Caucasus, Italy, The HERC2

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Important terminology

dna protein gene repair associated bp also human ligase 15 expression rld chr band chromosome cellular damage domain oca2 hect

Entity relationships Subject–Predicate–Object triples

SubjectPredicateObjectConfidenceSrc
HERC22.3.2.26↗1.00infobox
HERC2AliasesHERC2, p528, D15F37S1, MRT38, SHEP1, jdf2, HECT and RLD domain containing E3 ubiquitin protein ligase 2, LOC1079874221.00infobox
HERC2Available structuresAvailable structuresPDBOrtholog search: PDBe RCSB List of PDB id codes2KEO, 3KCI, 4L1M1.00infobox
HERC2Band15q13.11.00infobox
HERC2Band7 B5|7 33.42 cM1.00infobox
HERC2Bgeesural nerve1.00infobox
HERC2Bgeeright hemisphere of cerebellum1.00infobox
HERC2Bgeepituitary gland1.00infobox
HERC2Bgeecorpus callosum1.00infobox
HERC2Bgeemuscle layer of sigmoid colon1.00infobox
HERC2Bgeeanterior pituitary1.00infobox
HERC2Bgeesuperior frontal gyrus1.00infobox
HERC2Bgeeright frontal lobe1.00infobox
HERC2Bgeeprefrontal cortex1.00infobox
HERC2Bgeeprimary visual cortex1.00infobox
HERC2Bgeesecondary oocyte1.00infobox
HERC2Bgeedentate gyrus of hippocampal formation granule cell1.00infobox
HERC2Bgeeneural layer of retina1.00infobox
HERC2Bgeezygote1.00infobox
HERC2Bgeemedial dorsal nucleus1.00infobox
HERC2Bgeemuscle of thigh1.00infobox
HERC2Bgeeventral tegmental area1.00infobox
HERC2Bgeecerebellar cortex1.00infobox
HERC2Bgeemedial vestibular nucleus1.00infobox
HERC2BioGPSMore reference expression data1.00infobox
HERC2Chr.Chromosome 15 (human)1.00infobox
HERC2Chr.Chromosome 7 (mouse)1.00infobox
HERC2DatabasesNCBI: entry; OMA: entry1.00infobox
HERC2End28,322,179 bp1.00infobox
HERC2End55,881,548 bp1.00infobox

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