HERC2

LOC107987422
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2KEO, 3KCI, 4L1M
Identifiers
Aliases	LOC107987422, D15F37S1, MRT38, SHEP1, jdf2, p528, HERC2, HECT and RLD domain containing E3 ubiquitin protein ligase 2
External IDs	MGI: 103234 GeneCards: LOC107987422
Gene ontology Molecular function • guanyl-nucleotide exchange factor activity • zinc ion binding • metal ion binding • SUMO binding • ubiquitin-protein transferase activity • protein binding • ubiquitin protein ligase binding • transferase activity Cellular component • cytoplasm • membrane • nucleoplasm • mitochondrial inner membrane • centriole • cytoskeleton • nucleus Biological process • cellular response to DNA damage stimulus • protein ubiquitination • spermatogenesis • intracellular protein transport • double-strand break repair via nonhomologous end joining • positive regulation of GTPase activity • DNA repair Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	107987422	15204
Ensembl	n/a	ENSMUSG00000030451
UniProt	O95714	Q4U2R1
RefSeq (mRNA)	n/a	NM_010418
RefSeq (protein)	NP_004658	NP_034548.2 NP_034548
Location (UCSC)	n/a	Chr 7: 56.05 – 56.23 Mb
PubMed search

2KEO, 3KCI, 4L1M

107987422

15204

n/a

ENSMUSG00000030451

O95714

Q4U2R1

n/a

NM_010418

NP_004658

NP_034548.2
NP_034548

Probable E3 ubiquitin-protein ligase HERC2 is an enzyme that in humans is encoded by the HERC2 gene.

A mutation in the HERC2 gene adjacent to OCA2, affecting OCA2's expression in the human iris, is found common to nearly all people with blue eyes. It has been hypothesized that all blue eyed humans share a single common ancestor with whom the mutation originated.

The HERC2 gene's derived rs916977 allele is most common in Europe; particularly in the north and east, where it nears fixation. The variant is also found at high frequencies in North Africa, the Near East, Oceania and the Americas.

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Wikipedia