HECW2 - HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 Gene

Homo sapiens

Also known as NEDL2; NDHSAL

Gene ID: 57520 | Gene type: protein coding

About HECW2

Cytogenetic location: 2q32.3 Genomic coordinates (GRCh38): 2:196,194,072-196,593,554 (from NCBI)

This gene has 17 transcripts (splice variants), 225 orthologues, 24 paralogues and is associated with 2 phenotypes. Broad expression in spleen (RPKM 4.0), placenta (RPKM 3.5) and 19 other tissues.

Summary

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]

HECW2 Products(3)

mRNA	Protein	Name
NM_001304840.3	NP_001291769.1	E3 ubiquitin-protein ligase HECW2 isoform 2
NM_001348768.2	NP_001335697.1	E3 ubiquitin-protein ligase HECW2 isoform 1
NM_020760.4	NP_065811.1	E3 ubiquitin-protein ligase HECW2 isoform 1

HECW2 Protein Structure

HECT

0
300
600
900
1200
1572 a.a.

Protein Preferred Names

Protein Names

E3 ubiquitin-protein ligase HECW2

HECT-type E3 ubiquitin transferase HECW2

Related Diseases

Diseases

Alias

Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language

NDHSAL

Neurodevelopmental Disorder With Hypotonia, Seizures, Absent Language

Hypotonia

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Epilepsy

Epilepsy Syndrome	Epileptic Syndrome
Epilepsies	Symptomatic Epilepsies
Post Traumatic Epilepsy	Traumatic Epilepsy
Traumatic Epileptic	Epilepsy Due To Hippocampal Sclerosis
Epilepsy With Ammon'S Horn Sclerosis	Epilepsy Due To Cortical Dysplasia
Epilepsy Due To Neuronal Migration Disorders

Nervous System Disease

Abnormality Of The Nervous System	Nervous System Diseases
Nervous System Disorder

Schizophrenia

SCZD	Schizophrenia With Or Without An Affective Disorder
Schizophrenia 12	Schizophrenia, Susceptibility To
Schizophrenia-1	Dementia Praecox
Schizophrenia 1

Acromelic Frontonasal Dysostosis

AFND	Acromelic Frontonasal Dysplasia
Frontonasal Dysplasia Acromelic	Toriello Syndrome
Dysostosis, Acromelic Frontonasal	Sweet Syndrome

Glass Syndrome

Chromosome 2q32-Q33 Deletion Syndrome	Satb2-Associated Syndrome
2q33.1 Microdeletion Syndrome	Sas
2q32-Q33 Microdeletion Syndrome	2q32q33 Microdeletion Syndrome
Monosomy 2q32	Monosomy 2q32-Q33
Monosomy 2q32q33	2q32 Deletion Syndrome
Del(2)(Q32)	Del(2)(Q32q33)
GLASS	2q32q33 Microdeletion Syndromes
Satb2 Syndrome	Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Del(2)(Q33.1)	Monosomy 2q33.1
Satb2-Associated Syndrome Due To A Pathogenic Variant	Satb2-Associated Syndrome Due To A Point Mutation
Satb2 Associated Disorder

Large Congenital Melanocytic Nevus

Giant Pigmented Hairy Nevus	Giant Congenital Melanocytic Nevus
Gmn	Congenital Pigmented Nevus
Lcmn	Gphn
Giant Congenital Nevus	Bathing Trunk Nevus
Congenital Giant Pigmented Nevus	Congenital Hairy Nevus
Giant Hairy Nevus	Giant Pigmented Nevus
Congenital Giant Pigmented Nevus Of Skin	Congenital Melanocytic Nevus Syndrome
Giant Congenital Melanocytic Nevi	Giant Congenital Pigmented Nevus
Melanocytic Nevus Syndrome, Congenital

Dystonia

Dystonic Disease	Dystonic Disorder
Dystonia Disorders	Neuroleptic Dyskinesia

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06112	HECW2 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	HECW2	VGNC	VGNC:41646
Bos taurus	HECW2	VGNC	VGNC:56116
Felis catus	HECW2	VGNC	VGNC:62787
Rattus norvegicus	HECW2	RGD	RGD:1593244
Mus musculus	HECW2	MGD	MGI:2685817
Macaca mulatta	HECW2	VGNC	VGNC:73257

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