1. Gene
  2. NRG3 - neuregulin 3 Gene

NRG3 - neuregulin 3 Gene

中文名称:神经调节蛋白 3

种属: Homo sapiens

同用名: HRG3; pro-NRG3

基因 ID: 10718 | 基因类型: protein coding

关于 NRG3

Cytogenetic location: 10q23.1 Genomic coordinates (GRCh38): 10:81,875,194-82,987,179 (from NCBI)

This gene has 9 transcripts (splice variants), 211 orthologues and 3 paralogues. Biased expression in brain (RPKM 3.4), gall bladder (RPKM 0.5) and 1 other tissue.

功能概要

该基因是神经调节蛋白基因家族的成员。该基因家族编码跨膜酪氨酸激酶受体 ERBB3 和 ERBB4 的配体 - 表皮生长因子受体家族的成员。配体结合可激活细胞内信号级联反应并诱导细胞反应,包括增殖、迁移、分化和存活或凋亡。该基因编码神经调节蛋白 3 (NRG3) 。 NRG3 已被证明可以激活其同源受体 ERBB4 的酪氨酸磷酸化,并且被认为通过 ERBB4 发出信号来影响成神经细胞的增殖、迁移和分化。 NRG3 还在胚胎发生过程中促进乳腺分化。连锁研究表明该基因是精神分裂症和分裂情感障碍的易感位点。可变剪接导致编码不同异构体的多个转录变体。已描述其他转录本变体,但尚未验证其生物学有效性。[RefSeq 提供,2009 年 9 月]

This gene is a member of the neuregulin gene family. This gene family encodes ligands for the transmembrane tyrosine kinase receptors ERBB3 and ERBB4 - members of the epidermal growth factor receptor family. Ligand binding activates intracellular signaling cascades and the induction of cellular responses including proliferation, migration, differentiation, and survival or Apoptosis. This gene encodes neuregulin 3 (NRG3). NRG3 has been shown to activate the tyrosine phosphorylation of its cognate receptor, ERBB4, and is thought to influence neuroblast proliferation, migration and differentiation by signalling through ERBB4. NRG3 also promotes mammary differentiation during embryogenesis. Linkage studies have implicated this gene as a susceptibility locus for schizophrenia and schizoaffective disorder. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described but their biological validity has not been verified.[provided by RefSeq, Sep 2009]

NRG3 基因产物(7)

mRNA Protein Name
NM_001010848.4 NP_001010848.2 pro-neuregulin-3, membrane-bound isoform isoform 1
NM_001165972.1 NP_001159444.1 pro-neuregulin-3, membrane-bound isoform isoform 2
NM_001165973.2 NP_001159445.1 pro-neuregulin-3, membrane-bound isoform isoform 3
NM_001370081.1 NP_001357010.1 pro-neuregulin-3, membrane-bound isoform isoform 4
NM_001370082.1 NP_001357011.1 pro-neuregulin-3, membrane-bound isoform isoform 5
NM_001370083.1 NP_001357012.1 pro-neuregulin-3, membrane-bound isoform isoform 6
NM_001370084.1 NP_001357013.1 pro-neuregulin-3, membrane-bound isoform isoform 7
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 receptor ligand activity IDA
IDA: 通过直接分析推断
12466964 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in ERBB4 signaling pathway IDA
IDA: 通过直接分析推断
12466964 GOA
involved in modulation of chemical synaptic transmission IDA
IDA: 通过直接分析推断
29114105 GOA
involved in modulation of chemical synaptic transmission IMP
IMP: 通过突变表型推断
29114105 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in extracellular space IDA
IDA: 通过直接分析推断
12466964 GOA
is active in glutamatergic synapse IDA
IDA: 通过直接分析推断
29114105 GOA
is active in glutamatergic synapse IMP
IMP: 通过突变表型推断
29114105 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
蛋白主名 其他名称

pro-neuregulin-3, membrane-bound isoform

neuregulin-3-like polypeptide

重组 NRG3 蛋白

目录号 产品名 蛋白编号 纯度
HY-P75943 Neuregulin-3/NRG3 Protein, Human (HEK293, Fc) B9EGV5 (E282-P342) ≥95%
HY-P75944 Neuregulin-3/NRG3 Protein, Human (61a.a, HEK293, His) B9EGV5 (E282-P342) ≥95%

关联疾病

疾病名称 别名
Hirschsprung Disease 1

Hirschsprung Disease

Aganglionic Megacolon

Hscr

Hirschsprung'S Disease

Congenital Megacolon

Congenital Intestinal Aganglionosis

Colonic Aganglionosis

Hirschsprung Disease, Susceptibility To, 1

Hirschsprung Disease, Protection Against

HSCR1

Mgc

Pelvirectal Achalasia

Total Intestinal Aganglionosis

Megacolon, Aganglionic

Macrocolon

Hscr 1

Hirschsprung Disease Type 1

Hirschsprung Disease, Type 1

Congenital Dilatation Of Colon

Aganglionosis

Congenital Aganglionic Megacolon

Aganglionosis Of Colon

Bowel Aganglionosis

Colon Aganglionosis

Hirschsprung Megacolon

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Schizoaffective Disorder

Schizo-Affective Psychosis

Schizo-Affective Type Schizophrenia

Schizoaffective Psychosis

Schizoaffective Schizophrenia

Schizophrenia, Schizo-Affective Type

Schizophreniform Psychosis, Affective Type

Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type

Methylcobalamin Deficiency, Cblg Type

HMAG

Methionine Synthase Deficiency

Methylcobalamin Deficiency Type Cblg

Homocystinuria-Megaloblastic Anemia Due To Defect In Cobalamin Metabolism, Cblg Complementation Type

Homocystinuria-Megaloblastic Anemia Cblg Type

Homocystinuria-Megaloblastic Anemia Due To Defect In Cobalamin Metabolism Cblg Complementation Type

Methylcobalamin Deficiency Cbl G Type

Homocystinuria Due To Defect In Methylation Cbl G

Cblg

Functional Methionine Synthase Deficiency Type Cblg

Methylcobalamin Deficiency Cblg Type

Arakawa Syndrome 2

Lissencephaly 2

Norman-Roberts Syndrome

Lissencephaly Syndrome, Norman-Roberts Type

LIS2

Lissencephaly With Cerebellar Hypoplasia

Lch

Lissencephaly Syndrome Norman-Roberts Type

Norman Roberts Lissencephaly Syndrome

Lissencephaly 3

Lis3

Microlissencephaly Type A

Norman-Roberts Lissencephaly Syndrome

Lissencephaly, Type 2

Cobblestone Lissencephaly

Bipolar Disorder

Bipolar Depression

Manic Disorder

Depression, Bipolar

Bipolar Disorder Manic Phase

Depressive-Manic Psych.

Manic Bipolar Affective Disorder

Manic Bipolar I Disorder

Manic Depression

Manic Depressive Disorder

Mixed Bipolar Disorder

Bipolar Affective Disorder

Bipolar Affective Psychosis

Bipolar Spectrum Disorder

Manic Depressive Illness

Depression Bipolar

Bipolar Disorder, Mixed

Major Affective Disorder

Major Affective Disorder 1

Major Affective Disorder 2

Williams-Beuren Syndrome

Williams Syndrome

WBS

Wms

Deletion 7q11.23

Monosomy 7q11.23

Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

Fanconi Schlesinger Syndrome

Beuren Syndrome

Elfin Facies Syndrome

Elfin Facies With Hypercalcemia

Hypercalcemia-Supravalvar Aortic Stenosis

Ws

Attention Deficit-Hyperactivity Disorder

Attention Deficit Hyperactivity Disorder

ADHD

Attention Deficit Disorder

Attention Deficit-Hyperactivity Disorder, Susceptibility To

Attention Deficit Disorder With Hyperactivity

Hyperkinetic Disorder

Hyperactivity Of Childhood

Attention-Deficit/Hyperactivity Disorder

Add

Addh

Attention Deficit

Attention Deficit Disorder Of Childhood With Hyperactivity

Attention Deficit Disorder With Hyperactivity Syndrome

Hyperkinetic Syndrome

Attention-Deficit Hyperactivity Disorder

Attention-Deficit/Hyperactivity Disorder, Predominantly Inattentive Type

Disturbance Of Activity And Attention

Disorder Of Activity And Attention

Adhd - [Attention Deficit Hyperactivity Disorder]

Hyperkinetic Disorders

Disorder Of Activity And Attention With Hyperkinesia

Attention Deficit Syndrome With Hyperactivity

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

直系同源

种属 基因名 来源 基因 ID
Mus musculus NRG3 MGD MGI:1097165
Macaca mulatta NRG3 VGNC VGNC:103840
Felis catus NRG3 VGNC VGNC:97536
Canis familiaris NRG3 VGNC VGNC:51907
Bos taurus NRG3 VGNC VGNC:58396
Rattus norvegicus NRG3 RGD RGD:1559678
Others NRG3 NCBI