HECW2

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 is a protein that in humans is encoded by the HECW2 gene.[5]

PDBOrtholog search: PDBe RCSB
AliasesHECW2, NEDL2, HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2, NDHSAL
Quick facts Available structures, PDB ...
HECW2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesHECW2, NEDL2, HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2, NDHSAL
External IDsOMIM: 617245; MGI: 2685817; HomoloGene: 66192; GeneCards: HECW2; OMA:HECW2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001304840
NM_020760
NM_001348768

NM_001001883
NM_172655

RefSeq (protein)

NP_001291769
NP_065811
NP_001335697

NP_001001883
NP_766243

Location (UCSC)Chr 2: 196.19 – 196.59 MbChr 1: 53.85 – 54.23 Mb
PubMed search[3][4]
Wikidata
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Clinical significance

Mutations in the HECW2 gene have been associated to epilepsy and intellectual disability. These mutations affect one copy of the HECW2 gene and are believed to change the function of the HECW2 protein.[6]

References

Further reading

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