HECW2

Protein-coding gene in the species Homo sapiens
HECW2
Available structures
PDBOrtholog search: PDBe RCSB
List of PDB id codes

2LFE

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
Gene location (Human)
Chromosome 2 (human)
Chr.Chromosome 2 (human)[1]
Chromosome 2 (human)
Genomic location for HECW2
Genomic location for HECW2
Band2q32.3Start196,189,099 bp[1]
End196,593,684 bp[1]
Gene location (Mouse)
Chromosome 1 (mouse)
Chr.Chromosome 1 (mouse)[2]
Chromosome 1 (mouse)
Genomic location for HECW2
Genomic location for HECW2
Band1|1 C1.1Start53,846,035 bp[2]
End54,234,327 bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • myocardium of left ventricle

  • Brodmann area 23

  • middle temporal gyrus

  • visceral pleura

  • testicle

  • upper lobe of lung

  • upper lobe of left lung

  • right lung

  • primary visual cortex

  • Brodmann area 46
Top expressed in
  • epithelium of stomach

  • lumbar subsegment of spinal cord

  • substantia nigra

  • medial geniculate nucleus

  • lateral geniculate nucleus

  • primary motor cortex

  • habenula

  • medial dorsal nucleus

  • prefrontal cortex

  • lobe of cerebellum
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
  • transferase activity
  • ubiquitin-protein transferase activity
  • protein binding
  • ubiquitin protein ligase activity
Cellular component
  • mitotic spindle
  • spindle
  • cytoskeleton
  • cytoplasm
Biological process
  • protein ubiquitination
  • regulation of mitotic metaphase/anaphase transition
  • proteasome-mediated ubiquitin-dependent protein catabolic process
  • protein polyubiquitination
  • ubiquitin-dependent protein catabolic process
  • positive regulation of protein catabolic process
  • regulation of dendrite morphogenesis
  • negative regulation of sodium ion transmembrane transporter activity
Sources:Amigo / QuickGO
Orthologs
SpeciesHumanMouse
Entrez

57520

329152

Ensembl

ENSG00000138411

ENSMUSG00000042807

UniProt

Q9P2P5

Q6I6G8

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
View/Edit HumanView/Edit Mouse

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

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

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000138411 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000042807 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2". Retrieved 2014-10-24.
  6. ^ Halvardson J, Zhao JJ, Zaghlool A, Wentzel C, Georgii-Hemming P, Månsson E, Ederth Sävmarker H, Brandberg G, Soussi Zander C, Thuresson AC, Feuk L (2016). "Mutations in HECW2 are associated with intellectual disability and epilepsy". Journal of Medical Genetics. 53 (10): 697–704. doi:10.1136/jmedgenet-2016-103814. PMC 5099177. PMID 27334371.

Further reading

  • Miyazaki K, Ozaki T, Kato C, Hanamoto T, Fujita T, Irino S, Watanabe K, Nakagawa T, Nakagawara A (Aug 2003). "A novel HECT-type E3 ubiquitin ligase, NEDL2, stabilizes p73 and enhances its transcriptional activity". Biochemical and Biophysical Research Communications. 308 (1): 106–13. doi:10.1016/s0006-291x(03)01347-0. PMID 12890487.
  • Cui Y, He S, Xing C, Lu K, Wang J, Xing G, Meng A, Jia S, He F, Zhang L (Jul 2011). "SCFFBXL¹⁵ regulates BMP signalling by directing the degradation of HECT-type ubiquitin ligase Smurf1". The EMBO Journal. 30 (13): 2675–89. doi:10.1038/emboj.2011.155. PMC 3155294. PMID 21572392.


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