1. Gene
  2. NOTCH4 - notch receptor 4 Gene

NOTCH4 - notch receptor 4 Gene

中文名称:缺口受体 4

种属: Homo sapiens

同用名: INT3

基因 ID: 4855 | 基因类型: protein coding

关于 NOTCH4

Cytogenetic location: 6p21.32 Genomic coordinates (GRCh38): 6:32,194,843-32,224,067 (from NCBI)

This gene has 5 transcripts (splice variants), 1 gene allele, 576 orthologues and 5 paralogues. Broad expression in fat (RPKM 20.5), lung (RPKM 16.6) and 21 other tissues.

功能概要

该基因编码 Notch 蛋白质家族的成员。这种 I 型跨膜蛋白家族的成员具有共同的结构特征,包括由多个表皮生长因子样 (EGF) 重复序列组成的胞外结构域,以及由多个不同结构域类型组成的胞内结构域。 Notch 信号通路是一种进化上保守的细胞间信号通路,它通过 Notch 家族受体与其同源配体的结合来调节物理相邻细胞之间的相互作用。编码的前原蛋白在反式高尔基体网络中进行蛋白水解处理,生成两条多肽链,这些多肽链异二聚化形成成熟的细胞表面受体。该受体可能在血管、肾脏和肝脏发育中发挥作用。该基因的突变可能与精神分裂症有关。可变剪接导致多个转录本变体,其中至少一个编码一种经过蛋白水解处理的亚型。[RefSeq 提供,2016 年 1 月]

This gene encodes a member of the Notch family of proteins. Members of this Type I transmembrane protein family share structural characteristics including an extracellular domain consisting of multiple epidermal growth factor-like (EGF) repeats, and an intracellular domain consisting of multiple different domain types. Notch signaling is an evolutionarily conserved intercellular signaling pathway that regulates interactions between physically adjacent cells through binding of Notch family receptors to their cognate ligands. The encoded preproprotein is proteolytically processed in the trans-Golgi network to generate two polypeptide chains that heterodimerize to form the mature cell-surface receptor. This receptor may play a role in vascular, renal and hepatic development. Mutations in this gene may be associated with schizophrenia. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]

NOTCH4 基因产物(1)

mRNA Protein Name
NM_004557.4 NP_004548.3 neurogenic locus notch homolog protein 4 preproprotein

NOTCH4 蛋白结构

hEGF

hEGF: Human growth factor-like EGF (103 - 114)

hEGF

hEGF: Human growth factor-like EGF (142 - 154)

EGF_CA

EGF_CA: Calcium-binding EGF domain (194 - 227)

EGF

EGF: EGF-like domain (238 - 271)

EGF

EGF: EGF-like domain (280 - 308)

EGF_CA

EGF_CA: Calcium-binding EGF domain (314 - 350)

hEGF

hEGF: Human growth factor-like EGF (418 - 429)

EGF_CA

EGF_CA: Calcium-binding EGF domain (432 - 468)

EGF

EGF: EGF-like domain (517 - 546)

EGF_CA

EGF_CA: Calcium-binding EGF domain (551 - 584)

EGF

EGF: EGF-like domain (593 - 622)

EGF

EGF: EGF-like domain (771 - 801)

EGF

EGF: EGF-like domain (810 - 838)

hEGF

hEGF: Human growth factor-like EGF (868 - 879)

EGF

EGF: EGF-like domain (901 - 925)

EGF

EGF: EGF-like domain (934 - 964)

EGF

EGF: EGF-like domain (972 - 1001)

Notch

Notch: LNR domain (1166 - 1204)

Notch

Notch: LNR domain (1210 - 1246)

Notch

Notch: LNR domain (1249 - 1285)

NODP

NODP: NOTCH protein (1378 - 1440)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (1619 - 1689)

Ank_2

Ank_2: Ankyrin repeats (3 copies) (1696 - 1764)

Ank

Ank: Ankyrin repeat (1768 - 1796)

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  • 2003 a.a.
蛋白主名 其他名称

neurogenic locus notch homolog protein 4

Notch homolog 4

重组 NOTCH4 蛋白

目录号 产品名 蛋白编号 纯度
HY-P74683 NOTCH4 Protein, Human (sf9, His) Q99466 (M1-F637) ≥95%

关联疾病

疾病名称 别名
Schizoaffective Disorder

Schizo-Affective Psychosis

Schizo-Affective Type Schizophrenia

Schizoaffective Psychosis

Schizoaffective Schizophrenia

Schizophrenia, Schizo-Affective Type

Schizophreniform Psychosis, Affective Type

Schizophrenia

SCZD

Schizophrenia With Or Without An Affective Disorder

Schizophrenia 12

Schizophrenia, Susceptibility To

Schizophrenia-1

Dementia Praecox

Schizophrenia 1

Hemangioma

Hemangiomas

Lateral Meningocele Syndrome

Lehman Syndrome

Lms

LMNS

Meningocele, Lateral Syndrome

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

Tetralogy Of Fallot

TOF

Fallot Tetralogy

Ventricular Septal Defect With Pulmonary Stenosis Or Atresia, Dextraposition Of Aorta, And Hypertrophy Of Right Ventricle

Tetrad Of Fallot

Fallot Tetrad

Fallot Disease

Fallot Complex

Subpulmonic Stenosis, Ventricular Septal Defect, Overriding Aorta, And Right Ventricular Hypertrophy

Interventricular Septal Defect With Dextroposition Of Aorta, Pulmonary Stenosis And Hypertrophy Of Right Ventricle

Interventricular Septal Defect, In Tetralogy Of Fallot

Ventricular Septal Defect With Obstructed Right Ventricular Outflow

Tof - [Tetralogy Of Fallot]

Pulmonary Atresia With Ventricular Septal Defect [Fallot Type]

Pulmonary Atresia, Ventricular Septal Defect And Mapcas

Pulmonary Atresia With Ventricular Septal Defect And Systemic-To-Pulmonary Collateral Arteries [Fallot Type]

Alagille Syndrome 1

Alagille Syndrome

Arteriohepatic Dysplasia

Alagille-Watson Syndrome

Cholestasis With Peripheral Pulmonary Stenosis

Hepatic Ductular Hypoplasia

Alagille Syndrome Due To A Jag1 Point Mutation

ALGS1

Algs

Aws

Syndromic Bile Duct Paucity

Cardiovertebral Syndrome

Hepatofacioneurocardiovertebral Syndrome

Paucity Of Interlobular Bile Ducts

Watson-Miller Syndrome

Alagille Syndrome Due To 20p12 Microdeletion

Ahd

Hepatic Ductular Hypoplasia, Syndromatic

Watson Alagille Syndrome

Alagille'S Syndrome

Alagille Syndrome Due To Del(20)(P12)

Alagille Syndrome Due To Monosomy 20p12

Alagille-Watson Syndrome Due To Monosomy 20p12

Arteriohepatic Dysplasia Due To Monosomy 20p12

Syndromic Bile Duct Paucity Due To Monosomy 20p12

Alagille-Watson Syndrome Due To A Jag1 Point Mutation

Arteriohepatic Dysplasia Due To A Jag1 Point Mutation

Syndromic Bile Duct Paucity Due To A Jag1 Point Mutation

Alagille Syndrome, Type 1

Hajdu-Cheney Syndrome

Acroosteolysis With Osteoporosis And Changes In Skull And Mandible

Cheney Syndrome

Arthrodentoosteodysplasia

HJCYS

Serpentine Fibula-Polycystic Kidney Syndrome

Sfpks

Acroosteolysis Dominant Type

Serpentine Fibula-Polycystic Kidneys Syndrome

Arthro-Dento-Osteo Dysplasia

Cranioskeletal Dysplasia With Acro-Osteolysis

Familial Osteodysplasia

Hereditary Osteodysplasia With Acro-Osteolysis

Hcs

Serpentine Fibula Syndrome

Acro-Osteolysis

Serpentine Fibula Polycystic Kidney Syndrome

Arteriovenous Malformation

Arteriovenous Malformations

Arteriovenous Hemangioma

Cirsoid Aneurysm

Racemose Aneurysm

Racemose Angioma

Racemose Hemangioma

Congenital Arteriovenous Malformation

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Adams-Oliver Syndrome

Adams Oliver Syndrome

Aos

Congenital Scalp Defects With Distal Limb Reduction Anomalies

Aplasia Cutis Congenita With Terminal Transverse Limb Defects

Congenital Scalp Defects With Distal Limb Anomalies

Limb, Scalp And Skull Defects

Limb Scalp And Skull Defects

Absence Defect Of Limbs, Scalp, And Skull

Aortic Valve Disease 1

Aortic Valve Disease

Bicuspid Aortic Valve

Aortic Valve Disorder

AOVD1

Bav

Bicuspid Aortic Valve Disease

Familial Bicuspid Aortic Valve

Aortic Valve Calcification

Aovd

Aortic Valve, Bicuspid

Aortic Valve, Calcification Of

Aortic Stenosis, Calcific

Familial Bav

Calcific Aortic Stenosis

Calcification Of Aortic Valve

Abnormality Of The Aortic Valve

Aortic Valve Disease, Type 1

Aortic Valve Disease 2

Bicommissural Aortic Valve

Psychotic Disorder

Psychotic Disorders

Mental Or Behavioural Disorder

Psychotic

Mental Disorders

Colon Leiomyoma

Colonic Leiomyoma

Ovarian Cancer

Ovarian Carcinoma

Ovarian Neoplasm

Malignant Tumour Of Ovary

Cancer Of The Ovary

Epithelial Ovarian Cancer

Neoplasm Of Ovary

Ovarian Neoplasms

Ovarian Cancers

Malignant Neoplasm Of Ovary

Primary Malignant Neoplasm Of Ovary

Ovarian Cancer, Somatic

Malignant Ovarian Tumor

Ovary Neoplasm

Primary Ovarian Cancer

Tumor Of The Ovary

Malignant Neoplasm Of The Ovary

Malignant Tumor Of The Ovary

Ovarian Malignant Tumor

OC

Ovarian Carcinomas

Cancer, Ovarian

Cancer Of Ovary

Ovary Cancer

Ca Ovary

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 NOTCH4 MGD MGI:107471
Macaca mulatta NOTCH4 VGNC VGNC:75372
Canis familiaris NOTCH4 VGNC VGNC:43900
Bos taurus NOTCH4 VGNC VGNC:32179
Rattus norvegicus NOTCH4 RGD RGD:1303282
Others NOTCH4 NCBI