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Gene : HERC2 Homo sapiens

Name  ? HECT and RLD domain containing E3 ubiquitin protein ligase 2 Cytological Location  15q13.1
Brief Description  HECT and RLD domain containing E3 ubiquitin protein ligase 2
Description  This gene belongs to the HERC gene family that encodes a group of unusually large proteins, which contain multiple structural domains. All members have at least 1 copy of an N-terminal region showing homology to the cell cycle regulator RCC1 and a C-terminal HECT (homologous to E6-AP C terminus) domain found in a number of E3 ubiquitin protein ligases. Genetic variations in this gene are associated with skin/hair/eye pigmentation variability. Multiple pseudogenes of this gene are located on chromosomes 15 and 16. [provided by RefSeq, Mar 2012]
  • synonyms:
  • OTTHUMG00000129251,
  • jdf2,
  • AF071172,
  • jdf2,
  • NM_004667,
  • HGNC:4868,
  • hect domain and RLD 2,
  • HERC2,
  • uc001zbj.5,
  • MRT38,
  • D15F37S1,
  • D15F37S1,
  • SHEP1,
  • p528,
  • p528
  • identifiers:
  • 8924,
  • ENSG00000128731,
  • HERC2

Genome feature

Region: gene ? Length: 211140  
Location: 15:28111040-28322179 reverse strand Cyto location: 15q13.1


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

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Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

3 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

Gene(s) --> Significant SNPs (GTex data)

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Other

375 SN Ps

5 Cross References

19 Data Sets

4 Homologues

0 Located Features

97 Rna Seq Results