HECW2
Sign in to saveAlso known as NEDL2, HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2, NDHSAL
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 is a protein that in humans is encoded by the HECW2 gene.
In the Vinony graph
Within Vinony's link graph, HECW2 is referenced by 7 other articles, and connects out to PubMed, human chromosome 2 and Ensembl genome database project.
It is catalogued under the topic Genes on human chromosome 2.
Its subject is documented across 5 Wikipedia language editions.
Gene data
HECW2- Name
- HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2
- Type
- protein-coding
- Position
- 196,189,099–196,593,684 (−)
- Aliases
- NDHSAL, NEDL2
- Ensembl
- ENSG00000138411
- RefSeq RNA
- NM_001304840.3, NM_001348768.2, NM_020760.4, XM_006712646.4, XM_006712648.5
- RefSeq protein
- NP_001291769.1, NP_001335697.1, NP_065811.1, XP_006712709.1, XP_006712711.1
This gene encodes a member of a family of E3 ubiquitin ligases which plays an important role in the proliferation, migration and differentiation of neural crest cells as a regulator of glial cell line-derived neurotrophic factor (GDNF)/Ret signaling. This gene also plays an important role in angiogenesis through stabilization of endothelial cell-to-cell junctions as a regulator of angiomotin-like 1 stability. The encoded protein contains an N-terminal calcium/lipid-binding (C2) domain involved in membrane targeting, two-four WW domains responsible for cellular localization and substrate recognition, and a C-terminal homologous with E6-associated protein C-terminus (HECT) catalytic domain. Naturally occurring mutations in this gene are associated with neurodevelopmental delay, hypotonia, and epilepsy. The decreased expression of this gene in the aganglionic colon is associated with Hirschsprung's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017].
Gene Ontology
Biological process
Molecular function
Cellular component
Pathways
via MyGene.info
Gene · Ensembl
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2
- Symbol
- HECW2
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 2:196,189,099-196,593,684
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Instance of
- gene
Show 8 more facts
- HomoloGene ID
- 66192
- found in taxon
- Homo sapiens
- exact match
- identifiers.org/ncbigene/57520
- genomic end
- 196593684
- genomic start
- 196189099
- chromosome
- human chromosome 2
- cytogenetic location
- 2q32.3
- expressed in
- Brodmann area 46
via Wikidata · CC0
~1 min read
Encyclopedic overview
3 sectionsContents
- Clinical significance
- References
- Further reading
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 is a protein that in humans is encoded by the HECW2 gene.
== 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.
Excerpted from Wikipedia’s “HECW2” article, available under the CC BY-SA 4.0 licence.