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

Also Known as NEDL2; NDHSAL

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 57520

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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	24163370	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in regulation of mitotic metaphase/anaphase transition	IMP IMP: Inferred from mutant phenotype	24163370	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in mitotic spindle	IDA IDA: Inferred from direct assay	24163370	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

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

HECW2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	HECW2	Q9P2P5	ENTREP1	Homo sapiens	Q15884	Y2H	34927784

Cross: Cross-species interaction Intra: Intraspecies interaction

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

Pre-clinical Phase

Bioactive Molecules (1)

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