Endometriosis Knowledgebase


A repository for genes associated with endometriosis

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Gene id 4855
Gene Summary        Protein Summary    Gene ontology    KEGG pathways    Diseases    PubMed references    

Gene Summary
Gene Symbol NOTCH4   Gene   UCSC   Ensembl
Aliases INT3
Gene name notch 4
Alternate names neurogenic locus notch homolog protein 4, Notch homolog 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 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]
OMIM 164951

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: 209,622

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
 EGF-like (24-63)
EGF-like (64-115)
EGF-like (118-155)
EGF-like (156-192)
Interpro:  IPR002110 IPR020683 IPR001881 IPR013032 IPR000742 IPR000152 IPR018097 IPR009030 IPR022355 IPR000800 IPR010660 IPR011656
Prosite:   PS50297 PS50088 PS00010 PS00022 PS01186 PS50026 PS01187 PS50258

Pfam:  		 PF00023 PF12796 PF00008 PF07645 PF12661 PF06816 PF07684 PF00066
STRING:   ENSP00000364163;
Other Databases GeneCards:  NOTCH4;  Malacards:  NOTCH4

Gene ontology


GO accessionTerm nameEvidence codeGo category
GO:0000139 Golgi membrane
 TAS cellular_component
GO:0000139 Golgi membrane
 TAS cellular_component
GO:0001569 branching involved in blo
od vessel morphogenesis
 ISS biological_process
GO:0001709 cell fate determination
 TAS biological_process
GO:0001763 morphogenesis of a branch
ing structure
 ISS biological_process
GO:0001886 endothelial cell morphoge
nesis
 IEA biological_process
GO:0004872 receptor activity
 TAS molecular_function
GO:0005509 calcium ion binding
 TAS molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005634 nucleus
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005789 endoplasmic reticulum mem
brane
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005887 integral component of pla
sma membrane
 TAS cellular_component
GO:0006367 transcription initiation
from RNA polymerase II pr
omoter
 TAS biological_process
GO:0007219 Notch signaling pathway
 TAS biological_process
GO:0007220 Notch receptor processing
 TAS biological_process
GO:0007220 Notch receptor processing
 TAS biological_process
GO:0007221 positive regulation of tr
anscription of Notch rece
ptor target
 TAS biological_process
GO:0009790 embryo development
 ISS biological_process
GO:0009986 cell surface
 IDA cellular_component
GO:0030097 hemopoiesis
 TAS biological_process
GO:0030154 cell differentiation
 NAS biological_process
GO:0030879 mammary gland development
 IDA biological_process
GO:0045596 negative regulation of ce
ll differentiation
 NAS biological_process
GO:0045602 negative regulation of en
dothelial cell differenti
ation
 ISS biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
 TAS biological_process
GO:0046982 protein heterodimerizatio
n activity
 TAS molecular_function
GO:0000139 Golgi membrane
 TAS cellular_component
GO:0000139 Golgi membrane
 TAS cellular_component
GO:0001569 branching involved in blo
od vessel morphogenesis
 ISS biological_process
GO:0001709 cell fate determination
 TAS biological_process
GO:0001763 morphogenesis of a branch
ing structure
 ISS biological_process
GO:0001886 endothelial cell morphoge
nesis
 IEA biological_process
GO:0004872 receptor activity
 IEA molecular_function
GO:0004872 receptor activity
 TAS molecular_function
GO:0005509 calcium ion binding
 IEA molecular_function
GO:0005509 calcium ion binding
 TAS molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005634 nucleus
 IEA cellular_component
GO:0005634 nucleus
 IEA cellular_component
GO:0005634 nucleus
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005789 endoplasmic reticulum mem
brane
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005886 plasma membrane
 IEA cellular_component
GO:0005886 plasma membrane
 IEA cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005887 integral component of pla
sma membrane
 TAS cellular_component
GO:0005887 integral component of pla
sma membrane
 TAS cellular_component
GO:0006351 transcription, DNA-templa
ted
 IEA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
 IEA biological_process
GO:0006355 regulation of transcripti
on, DNA-templated
 IEA biological_process
GO:0006367 transcription initiation
from RNA polymerase II pr
omoter
 TAS biological_process
GO:0007219 Notch signaling pathway
 IEA biological_process
GO:0007219 Notch signaling pathway
 IEA biological_process
GO:0007219 Notch signaling pathway
 TAS biological_process
GO:0007220 Notch receptor processing
 TAS biological_process
GO:0007220 Notch receptor processing
 TAS biological_process
GO:0007221 positive regulation of tr
anscription of Notch rece
ptor target
 TAS biological_process
GO:0007275 multicellular organism de
velopment
 IEA biological_process
GO:0007275 multicellular organism de
velopment
 IEA biological_process
GO:0009790 embryo development
 ISS biological_process
GO:0009986 cell surface
 IDA cellular_component
GO:0016020 membrane
 IEA cellular_component
GO:0016021 integral component of mem
brane
 IEA cellular_component
GO:0016021 integral component of mem
brane
 IEA cellular_component
GO:0030097 hemopoiesis
 TAS biological_process
GO:0030154 cell differentiation
 IEA biological_process
GO:0030154 cell differentiation
 IEA biological_process
GO:0030154 cell differentiation
 NAS biological_process
GO:0030879 mammary gland development
 IDA biological_process
GO:0045446 endothelial cell differen
tiation
 IEA biological_process
GO:0045596 negative regulation of ce
ll differentiation
 NAS biological_process
GO:0045602 negative regulation of en
dothelial cell differenti
ation
 ISS biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
 TAS biological_process
GO:0046982 protein heterodimerizatio
n activity
 TAS molecular_function
GO:0000139 Golgi membrane
 TAS cellular_component
GO:0000139 Golgi membrane
 TAS cellular_component
GO:0001569 branching involved in blo
od vessel morphogenesis
 ISS biological_process
GO:0001709 cell fate determination
 TAS biological_process
GO:0001763 morphogenesis of a branch
ing structure
 ISS biological_process
GO:0004872 receptor activity
 TAS molecular_function
GO:0005509 calcium ion binding
 TAS molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005515 protein binding
 IPI molecular_function
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005576 extracellular region
 TAS cellular_component
GO:0005634 nucleus
 TAS cellular_component
GO:0005654 nucleoplasm
 TAS cellular_component
GO:0005789 endoplasmic reticulum mem
brane
 TAS cellular_component
GO:0005829 cytosol
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005886 plasma membrane
 TAS cellular_component
GO:0005887 integral component of pla
sma membrane
 TAS cellular_component
GO:0005887 integral component of pla
sma membrane
 TAS cellular_component
GO:0006367 transcription initiation
from RNA polymerase II pr
omoter
 TAS biological_process
GO:0007219 Notch signaling pathway
 TAS biological_process
GO:0007220 Notch receptor processing
 TAS biological_process
GO:0007220 Notch receptor processing
 TAS biological_process
GO:0007221 positive regulation of tr
anscription of Notch rece
ptor target
 TAS biological_process
GO:0009790 embryo development
 ISS biological_process
GO:0009986 cell surface
 IDA cellular_component
GO:0030097 hemopoiesis
 TAS biological_process
GO:0030154 cell differentiation
 NAS biological_process
GO:0030879 mammary gland development
 IDA biological_process
GO:0045596 negative regulation of ce
ll differentiation
 NAS biological_process
GO:0045602 negative regulation of en
dothelial cell differenti
ation
 ISS biological_process
GO:0045893 positive regulation of tr
anscription, DNA-template
d
 TAS biological_process
GO:0046982 protein heterodimerizatio
n activity
 TAS molecular_function

KEGG pathways

hsa05206  MicroRNAs in cancer
hsa05224  Breast cancer
hsa01522  Endocrine resistance
hsa04919  Thyroid hormone signaling pathway
hsa04320  Dorso-ventral axis formation
hsa04330  Notch signaling pathway

Diseases

Associated diseases References
Alzheimer's disease PMID: 14966150
Asthma PMID: 21804548
Diabetes PMID: 19143821
Endometrial cancer PMID: 11078798
Endometriosis PMID: 25546156
Glomerulonephritis PMID: 20595679
Multiple sclerosis PMID: 14651518
Endometriosis INFBASE25546156
Rheumatoid arthritis PMID: 14730600
Schizophrenia PMID: 14732589
Systemic lupus erythematosus PMID: 19851445
Systemic scleroderma PMID: 21779181
Ulcerative colitis PMID: 19659809

PubMed references


PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
25546156 Endometrio
sis

Female infertility NOTCH1
NOTCH4
JAGGED2
DLL4
HES5
HEY1
 Show abstract