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SMAD4 SMAD family member 4 [Homo sapiens (human)]


Clone ID RefSeq Accession Definition Vector Stock Status *Turnaround time Price Order
OHu26813 NM_005359 Homo sapiens SMAD family member 4 (SMAD4), mRNA. pcDNA3.1+-DYK In-stock 5-7 $149.00
OHu26813C NM_005359 Homo sapiens SMAD family member 4 (SMAD4), mRNA. Customized vector In-stock 5-7 $149.00

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Gene Symbol SMAD4
Entrez Gene ID 4089
Full Name SMAD family member 4
Synonyms DPC4, JIP, MADH4, MYHRS
General protein information
Preferred Names
mothers against decapentaplegic homolog 4
Names
mothers against decapentaplegic homolog 4
MAD homolog 4
SMAD, mothers against DPP homolog 4
deleted in pancreatic carcinoma locus 4
deletion target in pancreatic carcinoma 4
mothers against decapentaplegic, Drosophila, homolog of, 4
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

18

18q21.1

Summary This gene encodes a member of the Smad family of signal transduction proteins. Smad proteins are phosphorylated and activated by transmembrane serine-threonine receptor kinases in response to TGF-beta signaling. The product of this gene forms homomeric complexes and heteromeric complexes with other activated Smad proteins, which then accumulate in the nucleus and regulate the transcription of target genes. This protein binds to DNA and recognizes an 8-bp palindromic sequence (GTCTAGAC) called the Smad-binding element (SBE). The Smad proteins are subject to complex regulation by post-translational modifications. Mutations or deletions in this gene have been shown to result in pancreatic cancer, juvenile polyposis syndrome, and hereditary hemorrhagic telangiectasia syndrome. [provided by RefSeq, Oct 2009].
Disorder

MIM: 600993

Pancreatic cancer (3); Polyposis, juvenile intestinal, 174900 (3);

mRNA Protein Product Sequence Price Select
NM_005359, 195963400 NP_005350, 4885457 mothers against decapentaplegic homolog 4 ORF Sequence $360.00
KEGG
hsa04110Cell cycle
hsa04310Wnt signaling pathway
hsa04520Adherens junction
hsa04350TGF-beta signaling pathway
hsa05212Pancreatic cancer
hsa05200Pathways in cancer
hsa05210Colorectal cancer
hsa05220Chronic myeloid leukemia
hsa05166HTLV-I infection
hsa05161Hepatitis B
hsa04390Hippo signaling pathway
hsa04068FoxO signaling pathway
WikiPathways
WP138Androgen receptor signaling pathway
WP1984Integrated Breast Cancer Pathway
WP1591Heart Development
WP366TGF-beta Receptor Signaling Pathway
WP615Senescence and Autophagy
WP560TGF Beta Signaling Pathway
WP363Wnt Signaling Pathway NetPath
WP179Cell cycle
WP61Delta-Notch Signaling Pathway
WP710DNA damage response (only ATM dependent)
WP1425BMP signalling and regulation
WP53Id Signaling Pathway
WP2377Integrated Pancreatic Cancer Pathway
Pathway Interaction Database
smad2_3nuclearpathwayRegulation of nuclear SMAD2/3 signaling
bmppathwayBMP receptor signaling
lkb1_pathwayLKB1 signaling events
smad2_3pathwayRegulation of cytoplasmic and nuclear SMAD2/3 signaling
alk1pathwayALK1 signaling events
tgfbrpathwayTGF-beta receptor signaling
hif1_tfpathwayHIF-1-alpha transcription factor network
alk2pathwayALK2 signaling events
myc_activpathwayValidated targets of C-MYC transcriptional activation
myc_represspathwayValidated targets of C-MYC transcriptional repression
BIOCYC
HUMAN_PWY66-11BMP Signalling Pathway
Reactome
REACT_12627Generic Transcription Pathway
REACT_71Gene Expression
REACT_12034Signaling by BMP
REACT_6844Signaling by TGF-beta Receptor Complex
REACT_111045Developmental Biology
REACT_111102Signal Transduction
REACT_111057Signaling by NODAL
REACT_116125Disease
REACT_120734SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
REACT_121111Downregulation of SMAD2/3:SMAD4 transcriptional activity
REACT_121061Transcriptional activity of SMAD2/SMAD3:SMAD4 heterotrimer
REACT_120850TGF-beta receptor signaling activates SMADs
REACT_150238Signaling by Activin
REACT_169103SMAD2/3 Phosphorylation Motif Mutants in Cancer
REACT_169263TGFBR1 KD Mutants in Cancer
REACT_169192TGFBR2 MSI Frameshift Mutants in Cancer
REACT_169440TGFBR2 Kinase Domain Mutants in Cancer
REACT_169165SMAD2/3 MH2 Domain Mutants in Cancer
REACT_169107SMAD4 MH2 Domain Mutants in Cancer
REACT_169311Loss of Function of TGFBR1 in Cancer
REACT_169122Signaling by TGF-beta Receptor Complex in Cancer
REACT_169435Loss of Function of TGFBR2 in Cancer
REACT_169219Loss of Function of SMAD4 in Cancer
REACT_169398Loss of Function of SMAD2/3 in Cancer
REACT_169445TGFBR1 LBD Mutants in Cancer
REACT_200812Transcriptional regulation of pluripotent stem cells
Homo sapiens (human)SMAD4NP_005350.1
Pan troglodytes (chimpanzee)SMAD4XP_001155601.1
Macaca mulatta (Rhesus monkey)SMAD4XP_001096658.1
Canis lupus familiaris (dog)SMAD4XP_005615451.1
Bos taurus (cattle)SMAD4NP_001069677.1
Mus musculus (house mouse)Smad4NP_032566.2
Rattus norvegicus (Norway rat)Smad4NP_062148.1
Danio rerio (zebrafish)zmp:0000000768NP_001116172.1
Drosophila melanogaster (fruit fly)MedNP_524610.1
Xenopus (Silurana) tropicalis (western clawed frog)smad4.1XP_002934485.1
Process
IDNameEvidence
GO:0000122negative regulation of transcription from RNA polymerase II promoterTAS
GO:0001658branching involved in ureteric bud morphogenesisIEA
GO:0001666response to hypoxiaIMP
GO:0001701in utero embryonic developmentIEA
GO:0001702gastrulation with mouth forming secondIEA
GO:0003190atrioventricular valve formationIEA
GO:0003198epithelial to mesenchymal transition involved in endocardial cushion formationIEA
GO:0003251positive regulation of cell proliferation involved in heart valve morphogenesisIEA
GO:0003279cardiac septum developmentIEA
GO:0003360brainstem developmentIEA
GO:0006351transcription, DNA-templatedTAS
GO:0006367transcription initiation from RNA polymerase II promoterTAS
GO:0007179transforming growth factor beta receptor signaling pathwayIDA
GO:0007179transforming growth factor beta receptor signaling pathwayTAS
GO:0007183SMAD protein complex assemblyIDA
GO:0007411axon guidanceIEA
GO:0007492endoderm developmentIEA
GO:0007498mesoderm developmentIEA
GO:0008283cell proliferationIEA
GO:0008285negative regulation of cell proliferationIEA
GO:0010467gene expressionTAS
GO:0010718positive regulation of epithelial to mesenchymal transitionISS
GO:0010862positive regulation of pathway-restricted SMAD protein phosphorylationISS
GO:0014033neural crest cell differentiationIEA
GO:0017015regulation of transforming growth factor beta receptor signaling pathwayIMP
GO:0030308negative regulation of cell growthIDA
GO:0030509BMP signaling pathwayIDA
GO:0030509BMP signaling pathwayTAS
GO:0030511positive regulation of transforming growth factor beta receptor signaling pathwayIDA
GO:0030513positive regulation of BMP signaling pathwayIMP
GO:0032525somite rostral/caudal axis specificationIEA
GO:0032909regulation of transforming growth factor beta2 productionIMP
GO:0035556intracellular signal transductionIDA
GO:0036302atrioventricular canal developmentIEA
GO:0042118endothelial cell activationIEA
GO:0042177negative regulation of protein catabolic processIMP
GO:0045892negative regulation of transcription, DNA-templatedIDA
GO:0045893positive regulation of transcription, DNA-templatedIDA
GO:0045944positive regulation of transcription from RNA polymerase II promoterIDA
GO:0045944positive regulation of transcription from RNA polymerase II promoterTAS
GO:0048589developmental growthIEA
GO:0048663neuron fate commitmentIEA
GO:0048733sebaceous gland developmentIEA
GO:0048859formation of anatomical boundaryIEA
GO:0051098regulation of bindingIEA
GO:0051797regulation of hair follicle developmentIEA
GO:0060021palate developmentISS
GO:0060391positive regulation of SMAD protein import into nucleusISS
GO:0060395SMAD protein signal transductionIDA
GO:0060548negative regulation of cell deathIEA
GO:0060956endocardial cell differentiationIEA
GO:0071559response to transforming growth factor betaIDA
GO:0072133metanephric mesenchyme morphogenesisIEA
GO:0072134nephrogenic mesenchyme morphogenesisIEA
Component
IDNameEvidence
GO:0000790nuclear chromatinIDA
GO:0005634nucleusIDA
GO:0005654nucleoplasmTAS
GO:0005667transcription factor complexIDA
GO:0005667transcription factor complexIPI
GO:0005730nucleolusIDA
GO:0005737cytoplasmIDA
GO:0005813centrosomeIDA
GO:0005829cytosolTAS
GO:0032444activin responsive factor complexIDA
GO:0071141SMAD protein complexIDA
Function
IDNameEvidence
GO:0000987core promoter proximal region sequence-specific DNA bindingIDA
GO:0000988protein binding transcription factor activityIDA
GO:0001076RNA polymerase II transcription factor binding transcription factor activityIEA
GO:0001085RNA polymerase II transcription factor bindingIEA
GO:0003677DNA bindingIDA
GO:0003682chromatin bindingIEA
GO:0003700sequence-specific DNA binding transcription factor activityIDA
GO:0005515protein bindingIPI
GO:0005518collagen bindingIEA
GO:0030616transforming growth factor beta receptor, common-partner cytoplasmic mediator activityIDA
GO:0042802identical protein bindingIPI
GO:0042803protein homodimerization activityIPI
GO:0043565sequence-specific DNA bindingIDA
GO:0044212transcription regulatory region DNA bindingIDA
GO:0046872metal ion bindingIEA
GO:0070411I-SMAD bindingIPI
GO:0070412R-SMAD bindingIPI
GeneCards SMAD4
PDB 1U7F, 1DD1, 1MR1, 1G88, 1YGS, 1U7V
UniProt Q13485
Vega OTTHUMG00000132696
MIM 600993
Ensembl ENSG00000141646
HGNC 6770
HPRD 02995

GeneRIFs: Gene References Into Functions What's a GeneRIF?

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