Aliases for NOTCH2 Gene
Aliases for NOTCH2 Gene
External Ids for NOTCH2 Gene
- HGNC: 7882
- Entrez Gene: 4853
- Ensembl: ENSG00000134250
- OMIM: 600275
- UniProtKB: Q04721
Previous GeneCards Identifiers for NOTCH2 Gene
- GC01M120900
- GC01M119292
- GC01M119601
- GC01M119800
- GC01M120100
- GC01M120256
- GC01M120454
- GC01M118312
Summaries for NOTCH2 Gene
-
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]
GeneCards Summary for NOTCH2 Gene
NOTCH2 (Notch 2) is a Protein Coding gene. Diseases associated with NOTCH2 include Alagille Syndrome 2 and Hajdu-Cheney Syndrome. Among its related pathways are Notch signaling pathway (KEGG) and Pre-NOTCH Expression and Processing. GO annotations related to this gene include calcium ion binding and transcription factor activity, ligand-activated RNA polymerase II transcription factor binding. An important paralog of this gene is NOTCH1.
UniProtKB/Swiss-Prot for NOTCH2 Gene
-
Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs (By similarity). Involved in bone remodeling and homeostasis. In collaboration with RELA/p65 enhances NFATc1 promoter activity and positively regulates RANKL-induced osteoclast differentiation. Positively regulates self-renewal of liver cancer cells (PubMed:25985737).
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NOTCH2 Gene
Genomics for NOTCH2 Gene
Regulatory Elements for NOTCH2 Gene
Enhancers for NOTCH2 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH01G119985 | 1.5 | FANTOM5 Ensembl ENCODE dbSUPER | 12.6 | +82.4 | 82351 | 3.8 | JUN CEBPB ZNF394 RAD21 EP300 RFX5 ZNF664 JUND PRDM6 ZNF629 | NOTCH2 ADAM30 ZNF697 ENSG00000261662 GC01P119934 |
| GH01G120088 | 1.3 | FANTOM5 Ensembl ENCODE dbSUPER | 8.1 | -18.6 | -18592 | 0.6 | ZNF146 ZNF600 FOS | NOTCH2 ZNF697 FCGR1B LOC105378939 LOC101929178 |
| GH01G120141 | 1.4 | FANTOM5 Ensembl ENCODE dbSUPER | 7.3 | -74.0 | -73998 | 3.8 | MTA2 BHLHE40 DPF2 TBX21 ARID3A IKZF1 RELB MLLT1 IKZF2 SPI1 | ZNF697 NOTCH2 GC01P120130 SEC22B |
| GH01G120024 | 1.1 | Ensembl ENCODE dbSUPER | 7.3 | +44.9 | 44903 | 1.6 | MAFG BACH1 PRDM6 ZNF316 IKZF1 NFE2 MAFK EMSY SPI1 | NOTCH2 GC01P119934 |
| GH01G119946 | 0.9 | ENCODE dbSUPER | 8.6 | +122.3 | 122253 | 2.5 | HDGF CTCF ZNF654 TRIM22 SUPT20H ZNF2 RAD21 RFX5 TEAD3 JUND | NOTCH2 GC01P119934 |
- Elite enhancer and/or Elite enhancer-gene association
Download GeneHancer data dump
Enhancers around NOTCH2 on UCSC Golden Path with GeneCards custom track
- Transcription factor binding sites by QIAGEN in the NOTCH2 gene promoter:
Regulatory Element Products
Genomic Location for NOTCH2 Gene
- Chromosome:
- 1
- Start:
- 119,911,553 bp from pter
- End:
- 120,069,703 bp from pter
- Size:
- 158,151 bases
- Orientation:
- Minus strand
Genomic View for NOTCH2 Gene
Genes around NOTCH2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 1p12 by Ensembl
- 1p12 by Entrez Gene
- 1p12 by HGNC
NOTCH2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for NOTCH2 Gene
Proteins for NOTCH2 Gene
-
Protein details for NOTCH2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q04721-NOTC2_HUMAN
- Recommended name:
- Neurogenic locus notch homolog protein 2
- Protein Accession:
- Q04721
- Q5T3X7
- Q99734
- Q9H240
Protein attributes for NOTCH2 Gene
- Size:
- 2471 amino acids
- Molecular mass:
- 265405 Da
- Quaternary structure:
-
- Heterodimer of a C-terminal fragment N(TM) and an N-terminal fragment N(EC) which are probably linked by disulfide bonds (By similarity). Interacts with MAML1, MAML2 and MAML3 which act as transcriptional coactivators for NOTCH2. Interacts with RELA/p65 (By similarity). Interacts with HIF1AN. Interacts (via ANK repeats) with C8orf4, the interaction inhibits the nuclear translocation of NOTCH2 N2ICD (PubMed:25985737).
Protein Expression for NOTCH2 Gene
Post-translational modifications for NOTCH2 Gene
- Can be either O-glucosylated or O-xylosylated at Ser-613 by POGLUT1.
- Hydroxylated by HIF1AN.
- Synthesized in the endoplasmic reticulum as an inactive form which is proteolytically cleaved by a furin-like convertase in the trans-Golgi network before it reaches the plasma membrane to yield an active, ligand-accessible form. Cleavage results in a C-terminal fragment N(TM) and a N-terminal fragment N(EC). Following ligand binding, it is cleaved by TNF-alpha converting enzyme (TACE) to yield a membrane-associated intermediate fragment called notch extracellular truncation (NEXT). This fragment is then cleaved by presenilin dependent gamma-secretase to release a notch-derived peptide containing the intracellular domain (NICD) from the membrane (By similarity).
- Ubiquitination at posLast=17051705
- Glycosylation at posLast=4646, posLast=155155, posLast=613613, Asn733, Asn1102, and Asn1465
- Modification sites at PhosphoSitePlus
Other Protein References for NOTCH2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- EMD Millipore Complete listing of Mono and Polychlonal Antibodies for NOTCH2
- R&D Systems Antibodies for NOTCH2 (Notch-2)
- Cell Signaling Technology (CST) Antibodies for NOTCH2 (Notch 2)
-
Custom Antibody ServicesOriGene Antibodies for NOTCH2
- Novus Biologicals Antibodies for NOTCH2
-
Abcam antibodies for NOTCH2
-
Cloud-Clone Corp. Antibodies for NOTCH2
- Invitrogen Antibodies for NOTCH2
- antibodies-online Antibodies for NOTCH2: See all 182
- GeneTex NOTCH2 antibody for NOTCH2
Protein Products
- R&D Systems Proteins and Enzymes for NOTCH2 (Notch-2)
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for NOTCH2
- Origene Custom Protein Services for NOTCH2
- Novus Biologicals proteins for NOTCH2
- Sino Biological Recombinant Proteins for NOTCH2
- Browse Sino Biological Cell Lysates
-
Cloud-Clone Corp. Proteins for NOTCH2
- antibodies-online Proteins for NOTCH2: See all 7
- Search antibodies-online for peptides
- Search GeneTex for Proteins for NOTCH2
-
Abcam proteins for NOTCH2
No data available for DME Specific Peptides for NOTCH2 Gene
Domains & Families for NOTCH2 Gene
Gene Families for NOTCH2 Gene
Protein Domains for NOTCH2 Gene
- InterPro:
- Blocks:
- ProtoNet:
Suggested Antigen Peptide Sequences for NOTCH2 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q04721- Family:
-
- Belongs to the NOTCH family.
Function for NOTCH2 Gene
Molecular function for NOTCH2 Gene
- GENATLAS Biochemistry:
- Drosophila Notch homolog 2,mediating cell-cell interactions that specify cell fate during development,undergoing a first proteolytic cleavage by furin (PACE1) in the Golgi during trafficking of Notch to the cell surface,undergoing further cleavage by gamma secretase (see PSEN1) releasing an intracellular domain (NICD) which translocates to the nucleus and modulates transcription of target genes,putatively involved in neoplasia associated translocations
- UniProtKB/Swiss-Prot Function:
- Functions as a receptor for membrane-bound ligands Jagged1, Jagged2 and Delta1 to regulate cell-fate determination. Upon ligand activation through the released notch intracellular domain (NICD) it forms a transcriptional activator complex with RBPJ/RBPSUH and activates genes of the enhancer of split locus. Affects the implementation of differentiation, proliferation and apoptotic programs (By similarity). Involved in bone remodeling and homeostasis. In collaboration with RELA/p65 enhances NFATc1 promoter activity and positively regulates RANKL-induced osteoclast differentiation. Positively regulates self-renewal of liver cancer cells (PubMed:25985737).
LifeMap Function Summary for NOTCH2 Gene
During embryonic development, NOTCH2 as signaling molecule is secreted from the following cells
- Ovary
It affects the following cells:
- Kidney
- Ovary
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004872 | receptor activity | NAS | 9244302 |
| GO:0005509 | calcium ion binding | IEA | -- |
| GO:0005515 | protein binding | IPI | 10079256 |
| GO:0038049 | transcription factor activity, ligand-activated RNA polymerase II transcription factor binding | TAS | 9244302 |
Phenotypes for NOTCH2 Gene
- MGI mutant phenotypes for NOTCH2:
-
inferred from 17 alleles
- mortality/aging
- cellular phenotype
- normal phenotype
- growth/size/body region phenotype
- immune system phenotype
- muscle phenotype
- nervous system phenotype
- homeostasis/metabolism phenotype
- cardiovascular system phenotype
- respiratory system phenotype
- digestive/alimentary phenotype
- neoplasm
- reproductive system phenotype
- endocrine/exocrine gland phenotype
- vision/eye phenotype
- integument phenotype
- limbs/digits/tail phenotype
- skeleton phenotype
- embryo phenotype
- pigmentation phenotype
- hematopoietic system phenotype
- renal/urinary system phenotype
- liver/biliary system phenotype
- craniofacial phenotype
- no phenotypic analysis
- taste/olfaction phenotype
- GenomeRNAi human phenotypes for NOTCH2:
Animal Models for NOTCH2 Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for NOTCH2
- Cyagen custom Knockout/knockin (KOKI) mouse models for NOTCH2
-
-
ViGene Biosciences lentiviral particle packaged cDNA for NOTCH2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for NOTCH2 gene
- Search ViGene Biosciences for NOTCH2
CRISPR Products
-
OriGene CRISPR knockouts for NOTCH2
-
Santa Cruz Biotechnology (SCBT) CRISPR for NOTCH2
- GenScript: Design CRISPR guide RNA sequences for NOTCH2
miRNA for NOTCH2 Gene
- miRTarBase miRNAs that target NOTCH2
-
- hsa-mir-1-3p (MIRT001353)
- hsa-mir-16-5p (MIRT001437)
- hsa-mir-181c-5p (MIRT003209)
- hsa-mir-326 (MIRT004425)
- hsa-mir-34a-5p (MIRT005029)
- hsa-mir-107 (MIRT007156)
- hsa-mir-155-5p (MIRT020879)
- hsa-mir-183-5p (MIRT025026)
- hsa-mir-181a-5p (MIRT025208)
- hsa-mir-744-5p (MIRT037594)
- hsa-mir-130b-5p (MIRT038296)
- hsa-mir-27b-3p (MIRT046195)
- hsa-mir-196a-5p (MIRT048264)
- hsa-mir-106a-5p (MIRT048329)
- hsa-mir-92a-3p (MIRT049544)
- hsa-mir-25-3p (MIRT050287)
- hsa-mir-17-5p (MIRT050936)
- hsa-let-7c-5p (MIRT051850)
- hsa-mir-29b-3p (MIRT053748)
- hsa-mir-6868-3p (MIRT180168)
- hsa-mir-182-5p (MIRT180171)
- hsa-mir-3124-3p (MIRT180177)
- hsa-mir-515-5p (MIRT265787)
- hsa-mir-519e-5p (MIRT265788)
- hsa-mir-3942-3p (MIRT265807)
- hsa-mir-23b-3p (MIRT438322)
- hsa-mir-205-5p (MIRT440100)
- hsa-mir-96-5p (MIRT655805)
- hsa-mir-1271-5p (MIRT655806)
- hsa-mir-5695 (MIRT655807)
- hsa-mir-519d-5p (MIRT655808)
- hsa-mir-6838-5p (MIRT655809)
- hsa-mir-4274 (MIRT655810)
- hsa-mir-497-5p (MIRT655811)
- hsa-mir-424-5p (MIRT655812)
- hsa-mir-195-5p (MIRT655813)
- hsa-mir-15b-5p (MIRT655814)
- hsa-mir-15a-5p (MIRT655815)
- hsa-mir-29b-1-5p (MIRT655816)
- hsa-mir-543 (MIRT655817)
- hsa-mir-4753-3p (MIRT724572)
- hsa-mir-5100 (MIRT724573)
- hsa-mir-6794-3p (MIRT724574)
- hsa-mir-210-5p (MIRT724575)
- hsa-mir-4749-3p (MIRT724576)
- hsa-mir-1248 (MIRT724577)
- hsa-mir-1237-3p (MIRT724578)
- hsa-mir-6756-3p (MIRT724579)
- hsa-mir-3127-3p (MIRT724580)
- hsa-mir-10b-3p (MIRT724581)
- hsa-mir-4639-3p (MIRT724582)
miRNA Products
- Search ViGene Biosciences for NOTCH2
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for NOTCH2
- Browse OriGene Inhibitory RNA Products For NOTCH2
-
ViGene Biosciences ready-to-package AAV shRNAs for NOTCH2 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for NOTCH2
- VectorBuilder custom plasmid, inducible vectors for NOTCH2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for NOTCH2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Cell Line Products
-
Horizon Cell Lines for NOTCH2
-
ViGene Biosciences adenoviral particle packaged cDNA for NOTCH2 gene
-
ViGene Biosciences lentiviral particle packaged cDNA for NOTCH2 gene
-
ViGene Biosciences ready-to-package AAV shRNAs for NOTCH2 gene
Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA1-10943) for NOTCH2
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NOTCH2 Gene
Localization for NOTCH2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for NOTCH2 Gene
- Notch 2 extracellular truncation: Cell membrane; Single-pass type I membrane protein.
- Notch 2 intracellular domain: Nucleus. Cytoplasm. Note=Following proteolytical processing NICD is translocated to the nucleus. Retained at the cytoplasm by C8orf4 (PubMed:25985737). {ECO:0000269 PubMed:25985737}.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| nucleus | 5 |
| endoplasmic reticulum | 5 |
| golgi apparatus | 5 |
| cytoskeleton | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000139 | Golgi membrane | TAS | -- |
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005634 | nucleus | IDA,IEA | 1303260 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005737 | cytoplasm | IEA | -- |
Pathways & Interactions for NOTCH2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Notch signaling pathway (KEGG) |
.30
|
|
| 2 | Pre-NOTCH Expression and Processing | ||
| 3 | NOTCH2 Activation and Transmission of Signal to the Nucleus | ||
| 4 | Glioma |
.36
|
|
| 5 | Diseases of glycosylation | ||
Pathways by source for NOTCH2 Gene
1 Sino Biological pathway for NOTCH2 Gene
2 GeneTex pathways for NOTCH2 Gene
3 Cell Signaling Technology pathways for NOTCH2 Gene
5 BioSystems pathways for NOTCH2 Gene
16 Reactome pathways for NOTCH2 Gene
7 KEGG pathways for NOTCH2 Gene
4 R&D Systems pathways for NOTCH2 Gene
4 Qiagen pathways for NOTCH2 Gene
Interacting Proteins for NOTCH2 Gene
Selected Interacting proteins:
ENSP00000256646
Q04721-NOTC2_HUMAN
for NOTCH2 Gene via
STRING
MINT
IID
SIGNOR curated interactions for NOTCH2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001709 | cell fate determination | TAS | 9244302 |
| GO:0002315 | marginal zone B cell differentiation | ISS | -- |
| GO:0003184 | pulmonary valve morphogenesis | IMP | 16773578 |
| GO:0006351 | transcription, DNA-templated | IEA | -- |
| GO:0006355 | regulation of transcription, DNA-templated | TAS | 9244302 |
Drugs & Compounds for NOTCH2 Gene
(6) ApexBio Compounds for NOTCH2 Gene
| Compound | Action | Cas Number |
|---|---|---|
| BMS-983970 | 1584713-87-0 | |
| FLI-06 | 313967-18-9 | |
| LY3039478 | Notch inhibitor, novel and potent | 1421438-81-4 |
| LY-900009 | Potent Notch inhibitor | 209984-68-9 |
| PF-03084014 | γ-secretase inhibitor | 865773-15-5 |
| Z-Ile-Leu-aldehyde | 161710-10-7 |
Drug Products
- ApexBio compounds for NOTCH2
Transcripts for NOTCH2 Gene
mRNA/cDNA for NOTCH2 Gene
- (7) REFSEQ mRNAs :
- (9) Additional mRNA sequences :
- (379) Selected AceView cDNA sequences:
- (8) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for NOTCH2
-
Santa Cruz Biotechnology (SCBT) CRISPR for NOTCH2
- GenScript: Design CRISPR guide RNA sequences for NOTCH2
miRNA Products
- Search ViGene Biosciences for NOTCH2
Inhibitory RNA Products
- Origene RNAi, siRNA, and shRNA products in human, mouse, rat for NOTCH2
- Browse OriGene Inhibitory RNA Products For NOTCH2
-
ViGene Biosciences ready-to-package AAV shRNAs for NOTCH2 gene
Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- Addgene plasmids for NOTCH2
- VectorBuilder custom plasmid, inducible vectors for NOTCH2
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for NOTCH2
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Flow Cytometry Products
- eBioscience FlowRNA Probe Sets (VA1-10943) for NOTCH2
Expression for NOTCH2 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Epithelial Cells
- Anterior Lens Epithelial Cells Lens
- Fetal Inner Root Sheath Cells Inner Root Sheath
- Dental Placode Cells Dental Placode
- Inner Enamel Epithelial Cells Dental Enamel
- Outer Enamel Epithelial Cells Dental Enamel
-
Heart (Cardiovascular System)
- Neural Crest Outflow Tract Cells Outflow Tract
- Atrioventricular Canal Cells Atrioventricular Canal
- Cardiomyocytes Outflow Tract
- Vascular Smooth Muscle Cells Dorsal Aorta
- Cushion Mesenchymal Cells Endocardium
- Neural Tube (Nervous System)
-
Tooth (Integumentary System)
- Dental Placode Cells Dental Placode
- Dental Papilla Cells Dental Papilla
- Inner Enamel Epithelial Cells Dental Enamel
- Stellate Reticulum Cells Dental Core
- Outer Enamel Epithelial Cells Dental Enamel
-
Epidermis (Integumentary System)
- Surface Ectoderm Cells Surface Ectoderm
- Spinous Keratinocytes Stratified Epidermis
- Intermediate Keratinocytes Embryonic Epidermis
- Basal Keratinocytes Embryonic Epidermis
-
Hair (Integumentary System)
- Fetal Inner Root Sheath Cells Inner Root Sheath
- Primary Hair Placode Cells Hair Follicle
- Basal Keratinocytes Embryonic Epidermis
-
Kidney (Urinary System)
- S-shaped Body Distal Cells S-shaped Body Distal Segment
- S-shaped Body Proximal Cells S-shaped Body Proximal Segment
- S-shaped Body Medial Cells S-shaped Body Medial Segment
- Brain (Nervous System)
-
Head Mesenchyme (Muscoskeletal System)
- Cardiac Neural Crest Cells Branchial Arch 3,4,6
- Branchial Arch 1
-
Neural Crest (Gastrulation Derivatives)
- Cardiac Neural Crest Cells Branchial Arch 3,4,6
- Neural Crest Outflow Tract Cells Outflow Tract
-
Surface Ectoderm (Integumentary System)
- Surface Ectoderm Cells Surface Ectoderm
- Surface Ectoderm
-
Smooth Muscle (Muscoskeletal System)
- Vascular Smooth Muscle Cells Dorsal Aorta
- Vascular Smooth Muscle Cells Aortic Arch Arteries
- Eye (Sensory Organs)
-
Ectoderm (Gastrulation Derivatives)
- Surface Ectoderm Cells Surface Ectoderm
This gene is overexpressed in Adrenal (32.5) and Bone (8.7).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NOTCH2 Gene
NURSA nuclear receptor signaling pathways regulating expression of NOTCH2 Gene:
NOTCH2SOURCE GeneReport for Unigene cluster for NOTCH2 Gene:
Hs.487360mRNA Expression by UniProt/SwissProt for NOTCH2 Gene:
Q04721-NOTC2_HUMAN
Tissue specificity:
Expressed in the brain, heart, kidney, lung, skeletal muscle and liver. Ubiquitously expressed in the embryo.
Evidence on tissue expression from TISSUES for NOTCH2 Gene
- Nervous system(4.8)
- Blood(4.6)
- Lung(3.5)
- Skin(2.8)
- Liver(2.7)
- Intestine(2.3)
- Kidney(2.3)
- Spleen(2.3)
- Bone marrow(2.1)
- Heart(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for NOTCH2 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- immune
- integumentary
- nervous
- reproductive
- respiratory
- skeletal muscle
- skeleton
- urinary
Organs:
Head and neck:
- brain
- cerebellum
- cerebrospinal fluid
- cheek
- chin
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- lip
- mandible
- maxilla
- meninges
- middle ear
- mouth
- neck
- nose
- outer ear
- sinus
- skull
- tooth
Thorax:
- chest wall
- clavicle
- heart
- heart valve
- lung
- rib
- rib cage
- scapula
- sternum
Abdomen:
- abdominal wall
- biliary tract
- gallbladder
- intestine
- kidney
- liver
- pancreas
Pelvis:
- pelvis
- penis
- testicle
- ureter
- urethra
- urinary bladder
Limb:
- ankle
- arm
- digit
- elbow
- femur
- fibula
- finger
- foot
- forearm
- hand
- hip
- humerus
- knee
- lower limb
- nail
- radius
- shin
- shoulder
- thigh
- tibia
- toe
- ulna
- upper limb
- wrist
General:
- blood
- blood vessel
- hair
- skin
- spinal column
- spinal cord
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for NOTCH2
No data available for mRNA differential expression in normal tissues for NOTCH2 Gene
Orthologs for NOTCH2 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | NOTCH2 34 |
|
||
| dog (Canis familiaris) |
Mammalia | NOTCH2 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | NOTCH2 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Notch2 35 16 34 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | NOTCH2 35 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Notch2 34 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | NOTCH2 35 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | NOTCH2 34 35 |
|
||
| tropical clawed frog (Silurana tropicalis) |
Amphibia | LOC100486344 34 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | notch2 34 35 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | N 36 35 |
|
||
| CG15388 36 |
|
|
|||
| SP1070 36 |
|
|
|||
| worm (Caenorhabditis elegans) |
Secernentea | W02C12.1 36 |
|
|
|
| Y69H2.12 36 |
|
|
|||
| F55G1.13 36 |
|
|
|||
| Y69H2.11 36 |
|
|
|||
| Y69H2.2 36 |
|
|
|||
| F55H12.3 36 |
|
|
|||
| R05G6.9 36 |
|
|
|||
| lin-12 36 |
|
|
|||
| mup-4 36 |
|
|
|||
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | SWI6 37 |
|
|
|
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 35 |
|
OneToOne |
- Species where no ortholog for NOTCH2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- lizard (Anolis carolinensis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Paralogs for NOTCH2 Gene
Paralogs for NOTCH2 Gene
(15) SIMAP similar genes for NOTCH2 Gene using alignment to 4 proteins:
Pseudogenes.org Pseudogenes for NOTCH2 Gene
Variants for NOTCH2 Gene
| SNP ID | Clin | Chr 01 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs111033632 | Pathogenic, Alagille syndrome 2 (ALGS2) [MIM:610205] | 119,967,555(-) | TGAGT(A/G)TCTGA | reference, missense | |
| rs312262793 | Pathogenic | 119,968,224(-) | TCCTG(C/T)GTCAT | reference, missense | |
| rs312262794 | Pathogenic | 119,968,161(-) | CCAAC(C/T)CCCTA | reference, missense | |
| rs312262795 | Pathogenic | 119,968,194(-) | GCAAT(C/T)CTTGC | reference, missense | |
| rs312262796 | Pathogenic | 119,918,478(-) | CTGCC(C/T)GCCTG | reference, missense |
Residual Variation Intolerance Score:
1.87% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
4.41;
63.75% of all genes are more intolerant (likely to be disease-causing)
Relevant External Links for NOTCH2 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NOTCH2 Gene
Disorders for NOTCH2 Gene
(13) MalaCards diseases for NOTCH2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| alagille syndrome 2 |
|
|
| hajdu-cheney syndrome |
|
|
| notch2-related alagille syndrome |
|
|
| alagille syndrome |
|
|
| splenic marginal zone lymphoma |
|
|
Search NOTCH2 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
NOTC2_HUMAN- Alagille syndrome 2 (ALGS2) [MIM:610205]: A form of Alagille syndrome, an autosomal dominant multisystem disorder. It is clinically defined by hepatic bile duct paucity and cholestasis in association with cardiac, skeletal, and ophthalmologic manifestations. There are characteristic facial features and less frequent clinical involvement of the renal and vascular systems. {ECO:0000269 PubMed:16773578}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Hajdu-Cheney syndrome (HJCYS) [MIM:102500]: A rare skeletal disorder characterized by the association of facial anomalies, acro-osteolysis, general osteoporosis, insufficient ossification of the skull, and periodontal disease (premature loss of permanent teeth). Other features include cleft palate, congenital heart defects, polycystic kidneys, orthopedic problems and anomalies of the genitalia, intestines and eyes. {ECO:0000269 PubMed:21378985, ECO:0000269 PubMed:21378989}. Note=The disease is caused by mutations affecting the gene represented in this entry. NOTCH2 mutations associated with Hajdu-Cheney syndrome cluster to the last coding exon of the gene. This suggests that the mutant mRNA products may escape nonsense-mediated decay and the resulting truncated NOTCH2 proteins act in a gain-of-function manner.
Relevant External Links for NOTCH2
No data available for Genatlas for NOTCH2 Gene
Publications for NOTCH2 Gene
- Analysis of coding-polymorphisms in NOTCH-related genes reveals NUMBL poly-glutamine repeat to be associated with schizophrenia in Brazilian and Danish subjects. (PMID: 16899352) Passos Gregorio S. … Dias-Neto E. (Schizophr. Res. 2006) 3 22 46 64
- C8orf4 negatively regulates self-renewal of liver cancer stem cells via suppression of NOTCH2 signalling. (PMID: 25985737) Zhu P. … Fan Z. (Nat. Commun. 2015) 3 4 64
- Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss. (PMID: 21378985) Simpson M.A. … Trembath R.C. (Nat. Genet. 2011) 3 4 64
- Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis. (PMID: 21378989) Isidor B. … Le Caignec C. (Nat. Genet. 2011) 3 4 64
- Examination of all type 2 diabetes GWAS loci reveals HHEX-IDE as a locus influencing pediatric BMI. (PMID: 19933996) Zhao J. … Grant S.F. (Diabetes 2010) 3 46 64
Products for NOTCH2 Gene
- R&D Systems Antibodies for NOTCH2 (Notch-2)
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- Cyagen custom Knockout/knockin (KOKI) mouse models for NOTCH2
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- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for NOTCH2 Gene
- (1) GeneCards
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