Details for: NOTCH2

Gene ID: 4853

Symbol: NOTCH2

Ensembl ID: ENSG00000134250

Description: notch receptor 2

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 242.2447
    Cell Significance Index: -37.6800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 143.8240
    Cell Significance Index: -36.4800
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 93.2400
    Cell Significance Index: -38.4100
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 81.7372
    Cell Significance Index: -38.5900
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 78.7063
    Cell Significance Index: -31.9800
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 70.9779
    Cell Significance Index: -36.5100
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 33.5169
    Cell Significance Index: -32.0000
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 30.8689
    Cell Significance Index: -38.0600
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 13.8118
    Cell Significance Index: -37.0000
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 12.5469
    Cell Significance Index: -27.4600
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 10.2394
    Cell Significance Index: -31.4500
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 9.7034
    Cell Significance Index: -38.2900
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 3.4484
    Cell Significance Index: 73.7100
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 2.6910
    Cell Significance Index: 52.5200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 2.2517
    Cell Significance Index: 428.5100
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 2.0802
    Cell Significance Index: 26.6400
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 2.0568
    Cell Significance Index: 28.0600
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 2.0241
    Cell Significance Index: 37.4100
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 2.0091
    Cell Significance Index: 30.1100
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 1.7100
    Cell Significance Index: 10.5500
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 1.6013
    Cell Significance Index: 22.4600
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 1.3200
    Cell Significance Index: 37.8400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.9326
    Cell Significance Index: 119.5600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.9236
    Cell Significance Index: 51.8300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.8617
    Cell Significance Index: 100.4200
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.8024
    Cell Significance Index: 21.1000
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.7411
    Cell Significance Index: 80.6100
  • Cell Name: hippocampal astrocyte (CL0002604)
    Fold Change: 0.6944
    Cell Significance Index: 9.7100
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 0.6782
    Cell Significance Index: 6.0200
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.6717
    Cell Significance Index: 11.3200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.6640
    Cell Significance Index: 599.5200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.6224
    Cell Significance Index: 16.9400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.6040
    Cell Significance Index: 16.8800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.5876
    Cell Significance Index: 12.7300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.4125
    Cell Significance Index: 225.2800
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.3865
    Cell Significance Index: 8.9300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.3737
    Cell Significance Index: 703.5900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.3688
    Cell Significance Index: 17.3400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.3261
    Cell Significance Index: 64.7200
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3093
    Cell Significance Index: 21.3900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.2983
    Cell Significance Index: 40.9600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.2898
    Cell Significance Index: 13.5100
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.2709
    Cell Significance Index: 5.6700
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.2660
    Cell Significance Index: 3.8200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.2492
    Cell Significance Index: 19.1300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2408
    Cell Significance Index: 43.4000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.2306
    Cell Significance Index: 28.3500
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.2131
    Cell Significance Index: 94.2000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.2061
    Cell Significance Index: 130.9200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1808
    Cell Significance Index: 8.2000
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.1644
    Cell Significance Index: 253.0500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.1611
    Cell Significance Index: 73.1100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.1347
    Cell Significance Index: 248.4900
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.1144
    Cell Significance Index: 3.0700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.1048
    Cell Significance Index: 6.4400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0995
    Cell Significance Index: 5.1700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0892
    Cell Significance Index: 61.6700
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0600
    Cell Significance Index: 1.5000
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0560
    Cell Significance Index: 5.5400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0469
    Cell Significance Index: 1.3500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0375
    Cell Significance Index: 7.5200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0279
    Cell Significance Index: 2.0800
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: 0.0139
    Cell Significance Index: 8.7000
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0121
    Cell Significance Index: 16.3900
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0090
    Cell Significance Index: 0.1500
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0020
    Cell Significance Index: 0.0700
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0076
    Cell Significance Index: -1.3000
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0188
    Cell Significance Index: -13.9100
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.0337
    Cell Significance Index: -1.1700
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0343
    Cell Significance Index: -25.1200
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0409
    Cell Significance Index: -30.9900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0493
    Cell Significance Index: -27.8100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0603
    Cell Significance Index: -6.2800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0714
    Cell Significance Index: -25.6000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0929
    Cell Significance Index: -12.0000
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0931
    Cell Significance Index: -13.5300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0962
    Cell Significance Index: -11.0200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1139
    Cell Significance Index: -32.7800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1165
    Cell Significance Index: -11.9000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1198
    Cell Significance Index: -25.2300
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.1490
    Cell Significance Index: -1.1900
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.1825
    Cell Significance Index: -4.6900
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1892
    Cell Significance Index: -4.0300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1979
    Cell Significance Index: -23.3400
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.2021
    Cell Significance Index: -10.2100
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.2047
    Cell Significance Index: -3.5400
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: -0.2202
    Cell Significance Index: -1.3600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.2556
    Cell Significance Index: -18.0800
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.2671
    Cell Significance Index: -5.5400
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.2785
    Cell Significance Index: -4.1100
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2965
    Cell Significance Index: -33.8400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.3079
    Cell Significance Index: -20.7000
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.3228
    Cell Significance Index: -9.4800
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: -0.3515
    Cell Significance Index: -3.6700
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.3740
    Cell Significance Index: -23.5700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.3960
    Cell Significance Index: -24.2800
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.4232
    Cell Significance Index: -27.3000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.4423
    Cell Significance Index: -35.0300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.4780
    Cell Significance Index: -15.3100
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: -0.5106
    Cell Significance Index: -6.4300

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** NOTCH2 is a type II transmembrane receptor that belongs to the Notch family of receptors. It consists of an extracellular domain, a transmembrane domain, and a cytoplasmic domain. The extracellular domain of NOTCH2 contains a disulfide-bonded ectodomain that is cleaved to release the Notch intracellular domain (NICD). The transmembrane domain anchors the receptor to the cell membrane, while the cytoplasmic domain interacts with transcription factors and other signaling molecules to regulate gene expression. **Pathways and Functions** NOTCH2 is involved in various signaling pathways that regulate cell fate determination, differentiation, and proliferation. Some of the key pathways and functions of NOTCH2 include: * **Notch signaling pathway**: NOTCH2 is a key component of the Notch signaling pathway, which is a complex network of molecular interactions that control cell-cell communication and development. * **Apoptosis regulation**: NOTCH2 regulates apoptosis by interacting with transcription factors and other signaling molecules to modulate gene expression. * **Cell fate determination**: NOTCH2 plays a crucial role in regulating cell fate determination by controlling the expression of genes that determine cell identity and function. * **Differentiation and proliferation**: NOTCH2 regulates differentiation and proliferation by controlling the expression of genes that determine cell fate and function. * **Immune response**: NOTCH2 is involved in the regulation of the immune response by controlling the expression of genes that regulate immune cell function. **Clinical Significance** Dysregulation of NOTCH2 has been implicated in several diseases, including: * **Cancer**: NOTCH2 is often overexpressed in various types of cancer, including leukemia, lymphoma, and breast cancer. * **Developmental disorders**: NOTCH2 mutations have been implicated in developmental disorders, such as Down syndrome and congenital heart defects. * **Neurological disorders**: NOTCH2 is involved in the regulation of neurogenesis and neuronal differentiation, and dysregulation of NOTCH2 has been implicated in neurological disorders, such as Alzheimer's disease and Parkinson's disease. * **Immune disorders**: NOTCH2 is involved in the regulation of immune cell function, and dysregulation of NOTCH2 has been implicated in immune disorders, such as autoimmune diseases and immunodeficiency disorders. In conclusion, NOTCH2 is a critical regulator of cell fate determination, differentiation, and proliferation, and its dysregulation has been implicated in several diseases. Further research is needed to fully understand the role of NOTCH2 in human disease and to develop novel therapeutic strategies to target this gene.

Genular Protein ID: 3968865849

Symbol: NOTC2_HUMAN

Name: Notch 2 extracellular truncation

UniProtKB Accession Codes:

Q04721 Q5T3X7 Q99734 Q9H240

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 2 CORUM 1 CTD 1 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 ELM 1 EMBL 12 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 63 Gene3D 4 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 IDEAL 1 InParanoid 1 IntAct 1 InterPro 17 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 2 PIRSF 1 PRINTS 4 PRO 1 PROSITE 8 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 8 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 8 RefSeq 2 SIGNOR 1 SMART 7 SMR 1 STRING 1 SUPFAM 4 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 1303260

Title: Human homologs of a Drosophila enhancer of split gene product define a novel family of nuclear proteins.

PubMed ID: 1303260

DOI: 10.1038/ng1092-119

PubMed ID: 9244302

Title: Intracellular cleavage of Notch leads to a heterodimeric receptor on the plasma membrane.

PubMed ID: 9244302

DOI: 10.1016/s0092-8674(00)80336-0

PubMed ID: 10079256

Title: Human ligands of the Notch receptor.

PubMed ID: 10079256

DOI: 10.1016/s0002-9440(10)65325-4

PubMed ID: 11101851

Title: MAML1, a human homologue of Drosophila mastermind, is a transcriptional co-activator for NOTCH receptors.

PubMed ID: 11101851

DOI: 10.1038/82644

PubMed ID: 12370315

Title: Identification of a family of mastermind-like transcriptional coactivators for mammalian notch receptors.

PubMed ID: 12370315

DOI: 10.1128/mcb.22.21.7688-7700.2002

PubMed ID: 17081983

Title: Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.

PubMed ID: 17081983

DOI: 10.1016/j.cell.2006.09.026

PubMed ID: 17573339

Title: Asparaginyl hydroxylation of the Notch ankyrin repeat domain by factor inhibiting hypoxia-inducible factor.

PubMed ID: 17573339

DOI: 10.1074/jbc.m704102200

PubMed ID: 18469519

Title: Midkine induces epithelial-mesenchymal transition through Notch2/Jak2-Stat3 signaling in human keratinocytes.

PubMed ID: 18469519

DOI: 10.4161/cc.7.11.5952

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 18299578

Title: Interaction with factor inhibiting HIF-1 defines an additional mode of cross-coupling between the Notch and hypoxia signaling pathways.

PubMed ID: 18299578

DOI: 10.1073/pnas.0711591105

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21681853

Title: Mutations in NOTCH2 in families with Hajdu-Cheney syndrome.

PubMed ID: 21681853

DOI: 10.1002/humu.21546

PubMed ID: 21378989

Title: Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis.

PubMed ID: 21378989

DOI: 10.1038/ng.778

PubMed ID: 21378985

Title: Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss.

PubMed ID: 21378985

DOI: 10.1038/ng.779

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 25985737

Title: C8orf4 negatively regulates self-renewal of liver cancer stem cells via suppression of NOTCH2 signalling.

PubMed ID: 25985737

DOI: 10.1038/ncomms8122

PubMed ID: 29149593

Title: NOTCH2 Hajdu-Cheney mutations escape SCFFBW7-dependent proteolysis to promote osteoporosis.

PubMed ID: 29149593

DOI: 10.1016/j.molcel.2017.10.018

PubMed ID: 29856954

Title: Human-specific NOTCH2NL genes affect Notch signaling and cortical neurogenesis.

PubMed ID: 29856954

DOI: 10.1016/j.cell.2018.03.051

PubMed ID: 29329397

Title: MINAR1 is a Notch2-binding protein that inhibits angiogenesis and breast cancer growth.

PubMed ID: 29329397

DOI: 10.1093/jmcb/mjy002

PubMed ID: 32954300

Title: Loss of MINAR2 impairs motor function and causes Parkinson's disease-like symptoms in mice.

PubMed ID: 32954300

DOI: 10.1093/braincomms/fcaa047

PubMed ID: 17401372

Title: Structural basis for autoinhibition of Notch.

PubMed ID: 17401372

DOI: 10.1038/nsmb1227

PubMed ID: 16773578

Title: NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway.

PubMed ID: 16773578

DOI: 10.1086/505332

PubMed ID: 21793104

Title: Serpentine fibula-polycystic kidney syndrome caused by truncating mutations in NOTCH2.

PubMed ID: 21793104

DOI: 10.1002/humu.21563

PubMed ID: 21712856

Title: Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu-Cheney syndrome.

PubMed ID: 21712856

DOI: 10.1038/ejhg.2011.125

PubMed ID: 23389697

Title: Mutations in NOTCH2 in patients with Hajdu-Cheney syndrome.

PubMed ID: 23389697

DOI: 10.1007/s00198-013-2298-5

Sequence Information:

  • Length: 2471
  • Mass: 265405
  • Checksum: 605B1B963C812BE1
  • Sequence:
    • MPALRPALLW ALLALWLCCA APAHALQCRD GYEPCVNEGM CVTYHNGTGY CKCPEGFLGE 
YCQHRDPCEK NRCQNGGTCV AQAMLGKATC RCASGFTGED CQYSTSHPCF VSRPCLNGGT 
CHMLSRDTYE CTCQVGFTGK ECQWTDACLS HPCANGSTCT TVANQFSCKC LTGFTGQKCE 
TDVNECDIPG HCQHGGTCLN LPGSYQCQCP QGFTGQYCDS LYVPCAPSPC VNGGTCRQTG 
DFTFECNCLP GFEGSTCERN IDDCPNHRCQ NGGVCVDGVN TYNCRCPPQW TGQFCTEDVD 
ECLLQPNACQ NGGTCANRNG GYGCVCVNGW SGDDCSENID DCAFASCTPG STCIDRVASF 
SCMCPEGKAG LLCHLDDACI SNPCHKGALC DTNPLNGQYI CTCPQGYKGA DCTEDVDECA 
MANSNPCEHA GKCVNTDGAF HCECLKGYAG PRCEMDINEC HSDPCQNDAT CLDKIGGFTC 
LCMPGFKGVH CELEINECQS NPCVNNGQCV DKVNRFQCLC PPGFTGPVCQ IDIDDCSSTP 
CLNGAKCIDH PNGYECQCAT GFTGVLCEEN IDNCDPDPCH HGQCQDGIDS YTCICNPGYM 
GAICSDQIDE CYSSPCLNDG RCIDLVNGYQ CNCQPGTSGV NCEINFDDCA SNPCIHGICM 
DGINRYSCVC SPGFTGQRCN IDIDECASNP CRKGATCING VNGFRCICPE GPHHPSCYSQ 
VNECLSNPCI HGNCTGGLSG YKCLCDAGWV GINCEVDKNE CLSNPCQNGG TCDNLVNGYR 
CTCKKGFKGY NCQVNIDECA SNPCLNQGTC FDDISGYTCH CVLPYTGKNC QTVLAPCSPN 
PCENAAVCKE SPNFESYTCL CAPGWQGQRC TIDIDECISK PCMNHGLCHN TQGSYMCECP 
PGFSGMDCEE DIDDCLANPC QNGGSCMDGV NTFSCLCLPG FTGDKCQTDM NECLSEPCKN 
GGTCSDYVNS YTCKCQAGFD GVHCENNINE CTESSCFNGG TCVDGINSFS CLCPVGFTGS 
FCLHEINECS SHPCLNEGTC VDGLGTYRCS CPLGYTGKNC QTLVNLCSRS PCKNKGTCVQ 
KKAESQCLCP SGWAGAYCDV PNVSCDIAAS RRGVLVEHLC QHSGVCINAG NTHYCQCPLG 
YTGSYCEEQL DECASNPCQH GATCSDFIGG YRCECVPGYQ GVNCEYEVDE CQNQPCQNGG 
TCIDLVNHFK CSCPPGTRGL LCEENIDDCA RGPHCLNGGQ CMDRIGGYSC RCLPGFAGER 
CEGDINECLS NPCSSEGSLD CIQLTNDYLC VCRSAFTGRH CETFVDVCPQ MPCLNGGTCA 
VASNMPDGFI CRCPPGFSGA RCQSSCGQVK CRKGEQCVHT ASGPRCFCPS PRDCESGCAS 
SPCQHGGSCH PQRQPPYYSC QCAPPFSGSR CELYTAPPST PPATCLSQYC ADKARDGVCD 
EACNSHACQW DGGDCSLTME NPWANCSSPL PCWDYINNQC DELCNTVECL FDNFECQGNS 
KTCKYDKYCA DHFKDNHCDQ GCNSEECGWD GLDCAADQPE NLAEGTLVIV VLMPPEQLLQ 
DARSFLRALG TLLHTNLRIK RDSQGELMVY PYYGEKSAAM KKQRMTRRSL PGEQEQEVAG 
SKVFLEIDNR QCVQDSDHCF KNTDAAAALL ASHAIQGTLS YPLVSVVSES LTPERTQLLY 
LLAVAVVIIL FIILLGVIMA KRKRKHGSLW LPEGFTLRRD ASNHKRREPV GQDAVGLKNL 
SVQVSEANLI GTGTSEHWVD DEGPQPKKVK AEDEALLSEE DDPIDRRPWT QQHLEAADIR 
RTPSLALTPP QAEQEVDVLD VNVRGPDGCT PLMLASLRGG SSDLSDEDED AEDSSANIIT 
DLVYQGASLQ AQTDRTGEMA LHLAARYSRA DAAKRLLDAG ADANAQDNMG RCPLHAAVAA 
DAQGVFQILI RNRVTDLDAR MNDGTTPLIL AARLAVEGMV AELINCQADV NAVDDHGKSA 
LHWAAAVNNV EATLLLLKNG ANRDMQDNKE ETPLFLAARE GSYEAAKILL DHFANRDITD 
HMDRLPRDVA RDRMHHDIVR LLDEYNVTPS PPGTVLTSAL SPVICGPNRS FLSLKHTPMG 
KKSRRPSAKS TMPTSLPNLA KEAKDAKGSR RKKSLSEKVQ LSESSVTLSP VDSLESPHTY 
VSDTTSSPMI TSPGILQASP NPMLATAAPP APVHAQHALS FSNLHEMQPL AHGASTVLPS 
VSQLLSHHHI VSPGSGSAGS LSRLHPVPVP ADWMNRMEVN ETQYNEMFGM VLAPAEGTHP 
GIAPQSRPPE GKHITTPREP LPPIVTFQLI PKGSIAQPAG APQPQSTCPP AVAGPLPTMY 
QIPEMARLPS VAFPTAMMPQ QDGQVAQTIL PAYHPFPASV GKYPTPPSQH SYASSNAAER 
TPSHSGHLQG EHPYLTPSPE SPDQWSSSSP HSASDWSDVT TSPTPGGAGG GQRGPGTHMS 
EPPHNNMQVY A

Genular Protein ID: 2310829679

Symbol: Q6IQ50_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q6IQ50

Database IDs:

ARBA 6 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 GO 2 Gene3D 1 InterPro 8 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 2 PROSITE 6 PROSITE-ProRule 1 PeptideAtlas 1 Pfam 3 RefSeq 2 SAM 1 SMART 2 SUPFAM 2

Citations:

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

Sequence Information:

  • Length: 1235
  • Mass: 132112
  • Checksum: 2ADBD704B1552B61
  • Sequence:
    • MPALRPALLW ALLALWLCCA APAHALQCRD GYEPCVNEGM CVTYHNGTGY CKCPEGFLGE 
YCQHRDPCEK NRCQNGGTCV AQAMLGKATC RCASGFTGED CQYSTSHPCF VSRPCLNGGT 
CHMLSRDTYE CTCQVGFTGK ECQWTDACLS HPCANGSTCT TVANQFSCKC LTGFTGQKCE 
TDVNECDIPG HCQHGGTCLN LPGSYQCQCP QGFTGQYCDS LYVPCAPSPC VNGGTCRQTG 
DFTFECNCLP GFEGSTCERN IDDCPNHRCQ NGGVCVDGVN TYNCRCPPQW TGQFCTEDVD 
ECLLQPNACQ NGGTCANRNG GYGCVCVNGW SGDDCSENID DCAFASCTPG STCIDRVASF 
SCMCPEGKAG LLCHLDDACI SNPCHKGALC DTNPLNGQYI CTCPQGYKGA DCTEDVDECA 
MANSNPCEHA GKCVNTDGAF HCECLKGYAG PRCEMDINEC HSDPCQNDAT CLDKIGGFTC 
LCMPGFKGVH CELEINECQS NPCVNNGQCV DKVNRFQCLC PPGFTGPVCQ IDIDDCSSTP 
CLNGAKCIDH PNGYECQCAT GFTGVLCEEN IDNCDPDPCH HGQCQDGIDS YTCICNPGYM 
GAICSDQIDE CYSSPCLNDG RCIDLVNGYQ CNCQPGTSGV NCEINFDDCA SNPCIHGICM 
DGINRYSCVC SPGFTGQRCN IDIDECASNP CRKGATCING VNGFRCICPE GPHHPSCYSQ 
VNECLSNPCI HGNCTGGLSG YKCLCDAGWV GINCEVDKNE CLSNPCQNGG TCDNLVNGYR 
CTCKKGFKGY NCQVNIDECA SNPCLNQGTC FDDISGYTCH CVLPYTGKNC QTVLAPCSPN 
PCENAAVCKE SPNFESYTCL CAPGWQGQRC TIDIDECISK PCMNHGLCHN TQGSYMCECP 
PGFSGMDCEE DIDDCLANPC QNGGSCMDGV NTFSCLCLPG FTGDKYQTDM NECLSEPCKN 
GGTCSDYVNS YTCKCQAGFD GVHCENNINE CTESSCFNGG TCVDGINSFS CLCPVGFTGS 
FCLHEINECS SHPCLNEGTC VDGLGTYRCS CPLGYTGKNC QTLVNLCSRS PCKNKGTCVQ 
KKAESQCLCP SGWAGAYCDV PNVSCDIAAS RRGVLVEHLC QHSGVCINAG NTHYCQCPLG 
YTGSYCEEQL DECASNPCQH GATCSDFIGG YRCECVPGYQ GVNCEYEVDE CQNQPCQNGG 
TCIDLVNHFK CSCPPGTRGM KSSLSIFHPG HCLKL

Genular Protein ID: 2122008261

Symbol: Q9UFD5_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q9UFD5

Database IDs:

AlphaFoldDB 1 BioGRID-ORCS 1 CTD 1 DNASU 1 DisGeNET 1 EMBL 2 GO 6 Gene3D 1 InterPro 4 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PIR 2 PRINTS 1 PROSITE 2 PROSITE-ProRule 1 PeptideAtlas 1 Pfam 1 RefSeq 1 SAM 1 SMART 2 SUPFAM 1

Sequence Information:

  • Length: 462
  • Mass: 49309
  • Checksum: CB86B0969BA26678
  • Sequence:
    • EETPLFLAAR EGSYEAAKIL LDHFANRDIT DHMDRLPRDV ARDRMHHDIV RLLDEYNVTP 
SPPGTVLTSA LSPVICGPNR SFLSLKHTPM GKKSRRPSAK STMPTSLPNL AKEAKDAKGS 
RRKKSLSEKV QLSESSVTLS PVDSLESPHT YVSDTTSSPM ITSPGILQAS PNPMLATAAP 
PAPVHAQHAL SFSNLHEMQP LAHGASTVLP SVSQLLSHHH IVSPGSGSAG SLSRLHPVPV 
PADWMNRMEV NETQYNEMFG MVLAPAEGTH PGIAPQSRPP EGKHITTPRE PLPPIVTFQL 
IPKGSIAQPA GAPQPQSTCP PAVAGPLPTM YQIPEMARLP SVAFPTAMMP QQDGQVAQTI 
LPAYHPFPAS VGKYPTPPSQ HSYASSNAAE RTPSHSGHLQ GEHPYLTPSP ESPDQWSSSS 
PHSASDWSDV TTSPTPGGAG GGQRGPGTHM SEPPHNNMQV YA

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.