• Gene id: 4855

Gene Summary

• Gene Symbol: NOTCH4   Gene   UCSC   Ensembl
• Aliases: INT3
• Gene name: notch receptor 4
• Alternate names: neurogenic locus notch homolog protein 4, Notch homolog 4, notch 4,
• Gene location: 6p21.32 (32224066: 32194842)     Exons: 31     NC_000006.12
• Gene summary(Entrez): 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 in
• OMIM: 602806

Protein Summary

• Protein general information: Q99466  
  • Name: Neurogenic locus notch homolog protein 4 (Notch 4) (hNotch4) [Cleaved into: Notch 4 extracellular truncation; Notch 4 intracellular domain]
  • Length: 2003  
  • Mass: 209622
  • Tissue specificity: Highly expressed in the heart, moderately in the lung and placenta and at low levels in the liver, skeletal muscle, kidney, pancreas, spleen, lymph node, thymus, bone marrow and fetal liver. No expression was seen in adult brain or per
• Sequence:

  MQPPSLLLLLLLLLLLCVSVVRPRGLLCGSFPEPCANGGTCLSLSLGQGTCQCAPGFLGETCQFPDPCQNAQLCQ
  NGGSCQALLPAPLGLPSSPSPLTPSFLCTCLPGFTGERCQAKLEDPCPPSFCSKRGRCHIQASGRPQCSCMPGWT
  GEQCQLRDFCSANPCVNGGVCLATYPQIQCHCPPGFEGHACERDVNECFQDPGPCPKGTSCHNTLGSFQCLCPVG
  QEGPRCELRAGPCPPRGCSNGGTCQLMPEKDSTFHLCLCPPGFIGPDCEVNPDNCVSHQCQNGGTCQDGLDTYTC
  LCPETWTGWDCSEDVDECETQGPPHCRNGGTCQNSAGSFHCVCVSGWGGTSCEENLDDCIAATCAPGSTCIDRVG
  SFSCLCPPGRTGLLCHLEDMCLSQPCHGDAQCSTNPLTGSTLCLCQPGYSGPTCHQDLDECLMAQQGPSPCEHGG
  SCLNTPGSFNCLCPPGYTGSRCEADHNECLSQPCHPGSTCLDLLATFHCLCPPGLEGQLCEVETNECASAPCLNH
  ADCHDLLNGFQCICLPGFSGTRCEEDIDECRSSPCANGGQCQDQPGAFHCKCLPGFEGPRCQTEVDECLSDPCPV
  GASCLDLPGAFFCLCPSGFTGQLCEVPLCAPNLCQPKQICKDQKDKANCLCPDGSPGCAPPEDNCTCHHGHCQRS
  SCVCDVGWTGPECEAELGGCISAPCAHGGTCYPQPSGYNCTCPTGYTGPTCSEEMTACHSGPCLNGGSCNPSPGG
  YYCTCPPSHTGPQCQTSTDYCVSAPCFNGGTCVNRPGTFSCLCAMGFQGPRCEGKLRPSCADSPCRNRATCQDSP
  QGPRCLCPTGYTGGSCQTLMDLCAQKPCPRNSHCLQTGPSFHCLCLQGWTGPLCNLPLSSCQKAALSQGIDVSSL
  CHNGGLCVDSGPSYFCHCPPGFQGSLCQDHVNPCESRPCQNGATCMAQPSGYLCQCAPGYDGQNCSKELDACQSQ
  PCHNHGTCTPKPGGFHCACPPGFVGLRCEGDVDECLDQPCHPTGTAACHSLANAFYCQCLPGHTGQWCEVEIDPC
  HSQPCFHGGTCEATAGSPLGFICHCPKGFEGPTCSHRAPSCGFHHCHHGGLCLPSPKPGFPPRCACLSGYGGPDC
  LTPPAPKGCGPPSPCLYNGSCSETTGLGGPGFRCSCPHSSPGPRCQKPGAKGCEGRSGDGACDAGCSGPGGNWDG
  GDCSLGVPDPWKGCPSHSRCWLLFRDGQCHPQCDSEECLFDGYDCETPPACTPAYDQYCHDHFHNGHCEKGCNTA
  ECGWDGGDCRPEDGDPEWGPSLALLVVLSPPALDQQLFALARVLSLTLRVGLWVRKDRDGRDMVYPYPGARAEEK
  LGGTRDPTYQERAAPQTQPLGKETDSLSAGFVVVMGVDLSRCGPDHPASRCPWDPGLLLRFLAAMAAVGALEPLL
  PGPLLAVHPHAGTAPPANQLPWPVLCSPVAGVILLALGALLVLQLIRRRRREHGALWLPPGFTRRPRTQSAPHRR
  RPPLGEDSIGLKALKPKAEVDEDGVVMCSGPEEGEEVGQAEETGPPSTCQLWSLSGGCGALPQAAMLTPPQESEM
  EAPDLDTRGPDGVTPLMSAVCCGEVQSGTFQGAWLGCPEPWEPLLDGGACPQAHTVGTGETPLHLAARFSRPTAA
  RRLLEAGANPNQPDRAGRTPLHAAVAADAREVCQLLLRSRQTAVDARTEDGTTPLMLAARLAVEDLVEELIAAQA
  DVGARDKWGKTALHWAAAVNNARAARSLLQAGADKDAQDNREQTPLFLAAREGAVEVAQLLLGLGAARELRDQAG
  LAPADVAHQRNHWDLLTLLEGAGPPEARHKATPGREAGPFPRARTVSVSVPPHGGGALPRCRTLSAGAGPRGGGA
  CLQARTWSVDLAARGGGAYSHCRSLSGVGAGGGPTPRGRRFSAGMRGPRPNPAIMRGRYGVAAGRGGRVSTDDWP
  CDWVALGACGSASNIPIPPPCLTPSPERGSPQLDCGPPALQEMPINQGGEGKK

• Structural information:
  • Protein Domains: (24..6-)
    (/note="EGF-like-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (64..11-)
    (/note="EGF-like-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00076-)
    (118..15-)
    (/note="EGF-like-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PR-)
  • Interpro: IPR002110  IPR020683  IPR036770  IPR001881  IPR013032   IPR000742  IPR000152  IPR018097  IPR009030  IPR008297  IPR035993  IPR022355  IPR000800  IPR010660  IPR011656  
  • Prosite: PS50297 PS50088 PS00010 PS00022 PS01186 PS50026 PS01187 PS50258
  • STRING: ENSP00000364163
• Other Databases: GeneCards:  NOTCH4  Malacards:  NOTCH4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0035278	miRNA mediated inhibition of translation	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0045747	positive regulation of Notch signaling pathway	TAS	biological process
GO:0045446	endothelial cell differentiation	IEA	biological process
GO:0042060	wound healing	IEA	biological process
GO:0001886	endothelial cell morphogenesis	IEA	biological process
GO:0007221	positive regulation of transcription of Notch receptor target	TAS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0030879	mammary gland development	IDA	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	TAS	biological process
GO:0045602	negative regulation of endothelial cell differentiation	ISS	biological process
GO:0030154	cell differentiation	NAS	biological process
GO:0038023	signaling receptor activity	TAS	molecular function
GO:0001763	morphogenesis of a branching structure	ISS	biological process
GO:0001709	cell fate determination	TAS	biological process
GO:0030097	hemopoiesis	TAS	biological process
GO:0005634	nucleus	TAS	cellular component
GO:0001569	branching involved in blood vessel morphogenesis	ISS	biological process
GO:0045596	negative regulation of cell differentiation	NAS	biological process
GO:0001944	vasculature development	ISS	biological process
GO:0005509	calcium ion binding	TAS	molecular function
GO:2000048	negative regulation of cell-cell adhesion mediated by cadherin	IMP	biological process
GO:0001837	epithelial to mesenchymal transition	IMP	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP	biological process
GO:0060354	negative regulation of cell adhesion molecule production	IMP	biological process
GO:0005112	Notch binding	IBA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0038023	signaling receptor activity	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0050793	regulation of developmental process	IEA	biological process
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0035278	miRNA mediated inhibition of translation	TAS	biological process
GO:0000139	Golgi membrane	TAS	cellular component
GO:0000139	Golgi membrane	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0006367	transcription initiation from RNA polymerase II promoter	TAS	biological process
GO:0045747	positive regulation of Notch signaling pathway	TAS	biological process
GO:0045446	endothelial cell differentiation	IEA	biological process
GO:0042060	wound healing	IEA	biological process
GO:0001886	endothelial cell morphogenesis	IEA	biological process
GO:0007221	positive regulation of transcription of Notch receptor target	TAS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0030879	mammary gland development	IDA	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	TAS	biological process
GO:0045602	negative regulation of endothelial cell differentiation	ISS	biological process
GO:0030154	cell differentiation	NAS	biological process
GO:0038023	signaling receptor activity	TAS	molecular function
GO:0001763	morphogenesis of a branching structure	ISS	biological process
GO:0001709	cell fate determination	TAS	biological process
GO:0030097	hemopoiesis	TAS	biological process
GO:0005634	nucleus	TAS	cellular component
GO:0001569	branching involved in blood vessel morphogenesis	ISS	biological process
GO:0045596	negative regulation of cell differentiation	NAS	biological process
GO:0001944	vasculature development	ISS	biological process
GO:0005509	calcium ion binding	TAS	molecular function
GO:2000048	negative regulation of cell-cell adhesion mediated by cadherin	IMP	biological process
GO:0001837	epithelial to mesenchymal transition	IMP	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP	biological process
GO:0060354	negative regulation of cell adhesion molecule production	IMP	biological process
GO:0005112	Notch binding	IBA	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0038023	signaling receptor activity	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0050793	regulation of developmental process	IEA	biological process
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05165	Human papillomavirus infection
hsa05206	MicroRNAs in cancer
hsa05224	Breast cancer
hsa04919	Thyroid hormone signaling pathway
hsa01522	Endocrine resistance
hsa04330	Notch signaling pathway

Diseases

Associated diseases	References
Breast cancer	KEGG:H00031
Breast cancer	KEGG:H00031
Ductal carcinoma in situ	PMID:17440163
Dementia	PMID:21297263
Endometrial cancer	PMID:11078798
Arteriosclerosis	PMID:18802018
Multiple sclerosis	PMID:21654846
systemic scleroderma	PMID:21779181
Schizophrenia	PMID:14732589
Rheumatoid arthritis	PMID:20132067
type 1 diabetes mellitus	PMID:19143814
Alopecia areata	PMID:12589427
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881