HECW2 Chromosome 2
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2
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What This Gene Does
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 Info
Gene Group
"C2 domain containing|Nedd4 family E3 ubiquitin protein ligases"
Locus Type
gene with protein product
Location
2q32.3
Ensembl
ENSG00000138411
Associated Conditions (10)
Inborn genetic diseases
Neurodevelopmental disorder with hypotonia
seizures
and absent language
See cases
Abnormality of the nervous system
HECW2-related disorder
Neurodevelopmental disorder with progressive microcephaly
spasticity
and brain anomalies
Key Variants
RS142674505
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142736839
Conflicting classifications of pathogenicity
Inborn genetic diseases, Neurodevelopmental disorder with hypotonia, seizures
Health Risk
RS143511416
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with hypotonia, seizures, and absent language
Health Risk
RS144966097
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS145760297
Conflicting classifications of pathogenicity
Neurodevelopmental disorder with hypotonia, seizures, and absent language
Health Risk
RS1553496847
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1575409255
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS369287403
Conflicting classifications of pathogenicity
See cases, See cases
Health Risk
RS369637193
Conflicting classifications of pathogenicity
Inborn genetic diseases, Neurodevelopmental disorder with hypotonia, seizures
Health Risk
RS542693631
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS758824243
Conflicting classifications of pathogenicity
Health Risk
RS760300569
Conflicting classifications of pathogenicity
Inborn genetic diseases, Neurodevelopmental disorder with hypotonia, seizures
Health Risk
All Variants (46)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142674505 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS142736839 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Neurodevelopmental disorder with hypotonia, seizures |
| RS143511416 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with hypotonia, seizures, and absent language |
| RS144966097 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS145760297 | Health Risk | Conflicting classifications of pathogenicity | Neurodevelopmental disorder with hypotonia, seizures, and absent language |
| RS1553496847 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1575409255 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS369287403 | Health Risk | Conflicting classifications of pathogenicity | See cases, See cases |
| RS369637193 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Neurodevelopmental disorder with hypotonia, seizures |
| RS542693631 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS758824243 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS760300569 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Neurodevelopmental disorder with hypotonia, seizures |
| RS764436402 | Health Risk | Conflicting classifications of pathogenicity | See cases, Inborn genetic diseases, See cases |
| RS766688301 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS770779546 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS79185455 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS924461024 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1027776486 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia, seizures, and absent language |
| RS1057524302 | Health Risk | Likely pathogenic | — |
| RS1298082831 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia, seizures, and absent language |
| RS1553629086 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1553633403 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1553635778 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1575235801 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia, seizures, and absent language |
| RS1575240464 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia, seizures, and absent language |
| RS1575240506 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia, seizures, and absent language |
| RS1575255333 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia, seizures, and absent language |
| RS1575279293 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia, seizures, and absent language |
| RS1687461391 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia, seizures, and absent language |
| RS1687461840 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia, seizures, and absent language |
| RS1687614121 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia, seizures, and absent language |
| RS1687828601 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia, seizures, and absent language |
| RS1688481563 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia, seizures, and absent language |
| RS1691301206 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia, seizures, and absent language |
| RS1692479893 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia, seizures, and absent language |
| RS2470317158 | Health Risk | Likely pathogenic | Neurodevelopmental disorder with hypotonia, seizures, and absent language |
| RS1383783174 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia, seizures, and absent language |
| RS1687613797 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia, seizures, and absent language |
| RS1687613913 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia, seizures, and absent language |
| RS1688479620 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia, seizures, and absent language |
| RS878854416 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia, seizures, and absent language |
| RS878854417 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia, seizures, and absent language |
| RS878854422 | Health Risk | Pathogenic | Neurodevelopmental disorder with hypotonia, seizures, and absent language |
| RS1687461276 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1688479407 | Health Risk | Pathogenic/Likely pathogenic | Neurodevelopmental disorder with hypotonia, seizures, and absent language |
| RS774316240 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Neurodevelopmental disorder with hypotonia, seizures |