HECW2

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

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
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

Model organisms

Model organisms have been used in the study of HECW2 function. A conditional knockout mouse line called Hecw2tm1a(EUCOMM)Wtsi was generated at the Wellcome Trust Sanger Institute.[6] Male and female animals underwent a standardized phenotypic screen[7] to determine the effects of deletion.[8][9][10][11] Additional screens performed: - In-depth immunological phenotyping[12]

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.[13]

References
  1. GRCh38: Ensembl release 89: ENSG00000138411 - Ensembl, May 2017
  2. 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. Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x. S2CID 85911512.
  7. "International Mouse Phenotyping Consortium".
  8. Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
  9. Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  10. Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. S2CID 18872015.
  11. White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP (Jul 2013). "Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes". Cell. 154 (2): 452–64. doi:10.1016/j.cell.2013.06.022. PMC 3717207. PMID 23870131.
  12. "Infection and Immunity Immunophenotyping (3i) Consortium".
  13. 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


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.