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

中文名称：含 HECT、C2 和 WW 结构域的 E3 泛素蛋白连接酶 2

种属: Homo sapiens

同用名: NEDL2; NDHSAL

基因 ID: 57520 | 基因类型: protein coding

关于 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.

功能概要

该基因编码 E3 泛素连接酶家族的一个成员，该连接酶作为神经胶质细胞系衍生的神经营养因子 (GDNF) /RET 信号的调节剂，在神经嵴细胞的增殖、迁移和分化中起重要作用。该基因还通过稳定内皮细胞间连接作为血管动蛋白样 1 稳定性的调节剂在血管生成中发挥重要作用。编码的蛋白质包含一个参与膜靶向的 N 末端钙/脂质结合 (C2) 结构域、负责细胞定位和底物识别的两到四个 WW 结构域，以及一个与 E6 相关蛋白 C 末端同源的 C 末端 ( HECT) 催化结构域。该基因中自然发生的突变与神经发育迟缓、肌张力减退和癫痫有关。该基因在无神经节结肠中的表达减少与先天性巨结肠有关。可变剪接导致多个转录本变体。[RefSeq 提供，2017 年 2 月]

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 基因产物(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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	24163370	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in regulation of mitotic metaphase/anaphase transition	IMP IMP: 通过突变表型推断	24163370	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in mitotic spindle	IDA IDA: 通过直接分析推断	24163370	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

HECW2 蛋白结构

HECT

0
300
600
900
1200
1572 a.a.

蛋白主名

其他名称

E3 ubiquitin-protein ligase HECW2

HECT-type E3 ubiquitin transferase HECW2

HECW2 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	HECW2	Q9P2P5	ENTREP1	Homo sapiens	Q15884	Y2H	34927784

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS06112	HECW2 Human Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 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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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

粤ICP备2021105330号-3

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

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

关于 HECW2

功能概要

HECW2 基因产物(3)

HECW2 蛋白结构

HECW2 蛋白互作信息

关联疾病

直系同源

热门区域

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

关于 HECW2

功能概要

HECW2 基因产物(3)

HECW2 蛋白结构

HECW2 蛋白互作信息

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z