|Institutional Source||Beutler Lab|
|Gene Name||HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2|
|Synonyms||A730039N16Rik, Nedl2, D030049F17Rik|
|Is this an essential gene?||Possibly non essential (E-score: 0.253)|
|Stock #||R7501 (G1)|
|Chromosomal Location||53806876-54195168 bp(-) (GRCm38)|
|Type of Mutation||critical splice acceptor site|
|DNA Base Change (assembly)||T to C at 53913872 bp (GRCm38)|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000084942 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000087659] [ENSMUST00000120904]|
|Coding Region Coverage||
|Validation Efficiency||100% (61/61)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hecw2||
(F):5'- AGAGCAGCTCATGTCTTAGAAATC -3'
(R):5'- TTTCTTTGCTTAAGGGACACAGTTG -3'
(F):5'- GCTCATGTCTTAGAAATCTTGGTTC -3'
(R):5'- TGTTGACAGGAAAATTAAAAATGGTG -3'