NOTCH2 - notch receptor 2 Gene

Also Known as hN2; AGS2; HJCYS

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4853

About NOTCH2

Cytogenetic location: 1p12 Genomic coordinates (GRCh38): 1:119,911,553-120,069,662 (from NCBI)

This gene has 11 transcripts (splice variants), 211 orthologues, 7 paralogues and is associated with 153 phenotypes. Ubiquitous expression in testis (RPKM 12.9), ovary (RPKM 12.0) and 25 other tissues.

Summary

This gene encodes a member of the Notch family. Members of this Type 1 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 family members play a role in a variety of developmental processes by controlling cell fate decisions. The Notch signaling network is an evolutionarily conserved intercellular signaling pathway which regulates interactions between physically adjacent cells. In Drosophilia, Notch interaction with its cell-bound ligands (delta, serrate) establishes an intercellular signaling pathway that plays a key role in development. Homologues of the notch-ligands have also been identified in human, but precise interactions between these ligands and the human Notch homologues remain to be determined. This protein is cleaved in the trans-Golgi network, and presented on the cell surface as a heterodimer. This protein functions as a receptor for membrane bound ligands, and may play a role in vascular, renal and hepatic development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]

NOTCH2 Products (2)

mRNA	Protein	Name
NM_001200001.2	NP_001186930.1	neurogenic locus notch homolog protein 2 isoform 2 precursor
NM_024408.4	NP_077719.2	neurogenic locus notch homolog protein 2 isoform 1 preproprotein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Références	Source
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	18239137	GOA
enables cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	18239137	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10079256	GOA

Biological Process GO Annotation	Evidence	Références	Source
involved in Notch signaling pathway	IDA IDA: Inferred from direct assay	11306509	GOA
involved in Notch signaling pathway	IMP IMP: Inferred from mutant phenotype	16773578	GOA
involved in animal organ morphogenesis	IEP IEP: Inferred from expression pattern	12531696	GOA
involved in atrial septum morphogenesis	IMP IMP: Inferred from mutant phenotype	16773578	GOA
involved in bone remodeling	IMP IMP: Inferred from mutant phenotype	21378985	GOA
involved in cellular response to tumor cell	IDA IDA: Inferred from direct assay	11306509	GOA
involved in intracellular signal transduction	IDA IDA: Inferred from direct assay	18469519	GOA
involved in negative regulation of gene expression	IDA IDA: Inferred from direct assay	11306509	GOA
involved in positive regulation of ERK1 and ERK2 cascade	IDA IDA: Inferred from direct assay	11306509	GOA
involved in positive regulation of Ras protein signal transduction	IDA IDA: Inferred from direct assay	11306509	GOA
involved in positive regulation of keratinocyte proliferation	IDA IDA: Inferred from direct assay	18469519	GOA
involved in positive regulation of miRNA transcription	IMP IMP: Inferred from mutant phenotype	25323858	GOA
involved in positive regulation of smooth muscle cell differentiation	IDA IDA: Inferred from direct assay	18239137	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	18239137	GOA
involved in pulmonary valve morphogenesis	IMP IMP: Inferred from mutant phenotype	16773578	GOA
involved in regulation of osteoclast development	IMP IMP: Inferred from mutant phenotype	29149593	GOA

Cellular Component GO Annotation	Evidence	Références	Source
located in cell surface	IDA IDA: Inferred from direct assay	9244302	GOA
located in nucleus	IDA IDA: Inferred from direct assay	1303260	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	9244302	GOA
part of receptor complex	IDA IDA: Inferred from direct assay	23382219	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

NOTCH2 Protein Structure

EGF

EGF_CA

EGF

EGF_CA

EGF

EGF_CA

EGF

EGF_CA

EGF

EGF_CA

EGF

Notch

NOD

NODP

Ank_2

Ank

DUF3454

0
400
800
1200
1600
2000
2471 a.a.

Protein Preferred Names	Protein Names
neurogenic locus notch homolog protein 2	Notch homolog 2

Recombinant NOTCH2 Proteins

Cat. No.	Nom du produit	Accession	Pureté
HY-P71167	NOTCH2 Protein, Human (HEK293, His)	Q04721 (L26-Q530)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P76519	NOTCH2 Protein, Human (sf9, His)	Q04721 (L26-Q530)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P78185	NOTCH2 Protein, Human (Biotinylated, HEK293, His-Avi)	Q04721 (L26-Q530)	≥ 95%, as determined by Bis-Tris PAGE.

NOTCH2 Anticorps

Cat. No.	Nom du produit	Application	Reactivity
HY-P84481	Notch 2 Antibody (YA4178)	IHC-P, ICC/IF, FC, ELISA	Human
HY-P84481A	Notch 2 Antibody (YA4178)(PBS only)	IHC-P, ICC/IF, FC, ELISA	Human
HY-P86442	Notch 2 Antibody (YA6134)	WB, IHC-P, ICC/IF, IP, ELISA	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Alagille Syndrome 2	Alagille Syndrome Due To A Notch2 Point Mutation ALGS2 Alagille-Watson Syndrome Due To A Notch2 Point Mutation Arteriohepatic Dysplasia Due To A Notch2 Point Mutation Syndromic Bile Duct Paucity Due To A Notch2 Point Mutation Alagille-Watson Syndrome Algs Aws Cholestasis With Peripheral Pulmonary Stenosis Alagille Syndrome, Type 2
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
Keratoacanthoma	Ka - [Keratoacanthoma] Well-Differentiated Squamous Cell Carcinoma
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
Premature Menopause	Primary Ovarian Insufficiency Premature Ovarian Failure Hypergonadotropic Hypogonadism Premature Ovarian Insufficiency Menopause - Premature Menopause Praecox Menopause Premature Menopause, Premature Female Hypergonadotropic Hypogonadism Hypergonadotrophic Ovarian Failure Primary Female Hypogonadism Pof - [Premature Ovarian Failure] Ovarian Failure Ovarian Secretion Suppression Ovary Hyposecretion Ovary Secretion Deficiency Premature Menopause Nos
Neuronal Intranuclear Inclusion Disease	NIID Neuronal Intranuclear Hyaline Inclusion Disease
Biliary Atresia	Congenital Biliary Atresia Isolated Biliary Atresia Isolated Atresia Of Bile Ducts Non-Syndromic Biliary Atresia Atresia Of Bile Duct Biliary Atresia, Congenital Atresia Of Bile Ducts Bile Duct Atresia Congenital Bile Duct Atresia Ba - [Biliary Atresia] Impervious Bile Duct Atresia Of Common Duct Biliary Duct Atresia Bile Ductal Atresia Cystic Duct Atresia
Cholestasis	Obstruction Of Bile Duct Bile Duct Obstruction Bile Occlusion Extrahepatic Biliary Obstruction Extrahepatic Bile Duct Obstruction Bile Stasis Biliary Stasis Obstructive Hyperbilirubinemia Obstructed Jaundice Bile Duct Obstructed Bile Ductal Obstruction Biliary Duct Obstruction Obstructed Bile Ductal Obstructed Biliary Duct Obstructed Biliary Ductal Jaundice Regurgitation Obstructive Jaundice Cholestatic Jaundice Cholestatic Jaundice Syndrome
Spleen Cancer	Spleen Neoplasm Splenic Neoplasm Splenic Neoplasms Malignant Splenic Tumor Malignant Tumour Of Spleen Tumor Of Spleen Malignant Neoplasm Of Spleen
Lateral Meningocele Syndrome	Lehman Syndrome Lms LMNS Meningocele, Lateral Syndrome
Splenic Marginal Zone Lymphoma	Smzl Splenic Marginal Zone B-Cell Lymphoma
Osteoporosis	Postmenopausal Osteoporosis Osteoporosis, Postmenopausal Bone Mineral Density Quantitative Trait Locus Bmnd Osteoporosis, Involutional Osteoporosis, Susceptibility To Osteoporosis, Postmenopausal, Susceptibility Bone Mineral Density Variation Qtl, Osteoporosis OSTEOP Involutional Osteoporosis Senile Osteoporosis Osteoporosis Postmenopausal Bone Mineral Density, Quantitative Trait Locus Osteoporosis, Senile Idiopathic Osteoporosis Bone Rarefaction Nos Type 1 Osteoporosis
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
Mouth Disease	Mouth Diseases Mouth Disorders
Bn2 Diffuse Large B-Cell Lymphoma	Bn2 Dlbcl Doid:0081064
Squamous Cell Carcinoma	Epidermoid Carcinoma Squamous Cell Cancer Carcinoma, Squamous Cell Squamous Cell Skin Cancer Malignant Squamous Cell Tumor Squamous Carcinoma Squamous Cell Epithelioma Carcinoma Squamous Cell Neoplasms, Squamous Cell Squamous Cell Carcinoma - Category Malignant Squamous Cell Neoplasm Squamous Cell Carcinoma Of Skin
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
Spondylocostal Dysostosis	Jarcho-Levin Syndrome Costovertebral Dysplasia Spondylothoracic Dysostosis Spondylothoracic Dysplasia Scdo Dysostosis, Spondylocostal
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
High-Grade B-Cell Lymphoma Double-Hit/Triple-Hit	Hgbl-Dh/Th High Grade B-Cell Lymphoma With Myc And Bcl2 Or Bcl6 Rearrangements High Grade B-Cell Lymphoma With Myc And/ Or Bcl2 And/Or Bcl6 Rearrangement
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
Dowling-Degos Disease	Reticular Pigment Anomaly Of Flexures Dark Dot Disease Reticulate Acropigmentation Of Kitamura Dowling-Degos Kitamura Disease Kitamura Reticulate Acropigmentation Ddd Dowling-Degos-Kitamura Disease Reticular Pigmented Anomaly Of Flexures
Medulloblastoma	MDB Cpnet Localized Primitive Neuroectodermal Tumor Classic Medulloblastoma Medulloblastoma Predisposition Syndrome Medulloblastoma, Somatic Brain Medulloblastoma Cns Pnet Infratentorial Primitive Neuroectodermal Tumor Neuroectodermal Tumors, Primitive Medulloblastomas Desmoplastic Medulloblastoma Medulloblastoma, With Extensive Nodularity Medulloblastoma Of Unspecified Site Medullomyoblastoma Of Unspecified Site
Marginal Zone B-Cell Lymphoma	Marginal Zone Lymphoma Mzl Mucosa-Associated Lymphoid Tissue Lymphoma
Spondylocostal Dysostosis 3, Autosomal Recessive	SCDO3 Spondylocostal Dysostosis, Autosomal Recessive 3 Spondylocostal Dysostosis 3 Autosomal Recessive Spondylocostal Dysostosis 3 Doid:0112361 Dysostosis, Spondylocostal, Autosomal Recessive, Type 3 Jarcho-Levin Syndrome
Patent Ductus Arteriosus 1	Patent Ductus Arteriosus PDA1 Pda Ductus Arteriosus, Patent Patent Ductus Arteriosus, Susceptibility To Patent Ductus Botalli Patency Of The Ductus Arteriosus Patent Ductus Arteriosus Familial Ductus Arteriosus Patent Patent Ductus Arteriosus - Persisting Type
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Mental Retardation, X-Linked 3 Methylmalonic Acidemia With Homocystinuria, Type Cblx MAHCX Intellectual Developmental Disorder, X-Linked 3 Xlid3 Mrx3 Methylmalonic Acidemia And Homocysteinemia Cblx Type Combined Defect In Adenosylcobalamin And Methylcobalamin Synthesis, Type Cblx Methylmalonic Aciduria With Homocystinuria, Type Cblx Methylmalonic Acidemia And Homocysteinemia, Cblx Type Methylmalonic Aciduria And Homocysteinemia, Cblx Type Methylmalonic Aciduria And Homocysteinemia , Cblx Type Mental Retardation, X-Linked, Type 3
Type 2 Diabetes Mellitus	Insulin Resistance NIDDM Type 2 Diabetes Diabetes Mellitus, Non-Insulin-Dependent T2D Noninsulin-Dependent Diabetes Mellitus Diabetes Mellitus, Type Ii Maturity-Onset Diabetes Insulin Resistance, Severe, Digenic Diabetes Mellitus, Type 2 Diabetes Mellitus, Noninsulin-Dependent Diabetes Mellitus, Noninsulin-Dependent, Association With Diabetes Mellitus, Noninsulin-Dependent, Late Onset Hypertension, Insulin Resistance-Related, Susceptibility To Insulin Resistance, Susceptibility To Non-Insulin-Dependent Diabetes Mellitus Type Ii Diabetes Mellitus Adult-Onset Diabetes Mellitus Maturity-Onset Diabetes Mellitus Diabetes Mellitus Type 2 Type Ii Diabetes Type 2 Diabetes Mellitus, Susceptibility To Diabetes, Type 2 Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To Diabetes Mellitus, Type 2, Susceptibility To Diabetes Mellitus, Noninsulin-Dependent, 2 Diabetes Mellitus, Type Ii, Susceptibility To Hypertension, Insulin Resistance-Related Adult-Onset Diabetes Aodm Diabetes Mellitus, Adult-Onset Diabetes Mellitus Type Ii Diabetes Mellitus Type 2, Susceptibility To Diabetes, Type Ii, Susceptibility To Diabetes Type 2 Diabetes Mellitus Adult Onset Diabetes Maturity Onset Diabetes Nonketotic Diabetes Non-Insulin Dependent Diabetes Mellitus T2dm - [Type 2 Diabetes Mellitus] Niddm - [Non Insulin Dependent Diabetes Mellitus] Dm2 Dm Type Ii Diabetic Type 2 Insulin Requiring Type 2 Diabetes Noninsulin Dependent Diabetes Non-Insulin-Dependent Diabetes Mellitus Without Complications Diabetes Due To Insulin Secretory Defect Diabetes Mellitus Due To Insulin Secretory Defect Non-Insulin-Dependent Diabetes Of The Young Senile Diabetes Nonketotic Hyperglycaemia Stable Diabetes
Diabetes Mellitus	Diabetes
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]
Rasopathy	Ras/Mitogen-Activated Protein Kinase Syndrome
Leukemia, Chronic Lymphocytic	Chronic Lymphocytic Leukemia B-Cell Chronic Lymphocytic Leukemia CLL B-Cell Chronic Lymphoid Leukemia Chronic Lymphatic Leukemia Chronic Lymphocytic Leukaemia Lymphoplasmacytic Leukemia Small Lymphocytic Lymphoma Leukemia, Chronic Lymphatic B-Cell Chronic Lymphocytic Leukaemia Chronic Lymphatic Leukaemia Lymphoplasmacytic Leukaemia B Cell Chronic Lymphocytic Leukemia Chronic B-Cell Lymphocytic Leukemia Leukemia, Lymphocytic, Chronic B-Cll Chronic Lymphoid Leukemia Leukemia Lymphocytic Chronic Lymphoma Small Lymphocytic Leukemia, Lymphocytic, Chronic, B-Cell

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

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Nom du produit	Effect	Pureté	Phase
HY-15670	BMS-906024	Inhibitor	99.91%	Phase 1

Inhibitory Antibodies (1)

Cat. No.	Nom du produit	Effect	Pureté	Phase
HY-P99320	Tarextumab	Inhibitor	99.83%	Phase 2

Pre-clinical Phase

Bioactive Molecules (6)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-N6727	Gliotoxin		99.51%	Unkown
HY-RS09448	NOTCH2 Human Pre-designed siRNA Set A		/	Unkown
HY-RS09450	NOTCH2NLC Human Pre-designed siRNA Set A		/	Unkown
HY-RS19796	Notch2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS09449	NOTCH2NLA Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS26292	Notch2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Inhibitory Antibodies (2)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-P990206	Anti-Mouse Jagged 2 Antibody (HMJ2-1)	Inhibitor	/	Unkown
HY-P992278	Anti-Notch2 Antibody		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	NOTCH2	MGD	MGI:97364
Rattus norvegicus	NOTCH2	RGD	RGD:3188
Others	NOTCH2	NCBI