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SMAD4

CANCER ATLAS

Gene description

 SMAD family member 4

Protein class

 Cancer-related genes, Disease related genes, Predicted intracellular proteins, Transcription factors

Protein evidence

 Evidence at protein level
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY
HPA019154

GENE INFORMATION

Gene name

 SMAD4 (HGNC Symbol)

Synonyms

 DPC4, MADH4

Description

 SMAD family member 4 (HGNC Symbol)

Entrez gene 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]

Chromosome

 18

Cytoband

 q21.2

Chromosome location (bp)

 51028394 - 51085045

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000141646 (version 83.38)

Entrez gene

 4089

UniProt

 Q13485 (UniProt - Evidence at protein level)

neXtProt

 NX_Q13485

Antibodypedia

 SMAD4 antibodies

PROTEIN BROWSER
SMAD4-001
SMAD4-004
SMAD4-006
SMAD4-007
SMAD4-008
SMAD4-010
SMAD4-013
SMAD4-016
SMAD4-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
SMAD4-001
ENSP00000381452
ENST00000398417
Q13485 [Direct mapping]
Mothers against decapentaplegic homolog 4
A0A024R274 [Target identity:100%; Query identity:100%]
Mothers against decapentaplegic homolog
Show all
   SCAMPI predicted membrane proteins
Predicted intracellular proteins
Transcription factors
   beta-Hairpin exposed by an alpha/beta-scaffold
Cancer-related genes
   Candidate cancer biomarkers
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000790 [nuclear chromatin]
GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding]
GO:0000987 [core promoter proximal region sequence-specific DNA binding]
GO:0000988 [transcription factor activity, protein binding]
GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0001666 [response to hypoxia]
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005515 [protein binding]
GO:0005622 [intracellular]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005667 [transcription factor complex]
GO:0005737 [cytoplasm]
GO:0005813 [centrosome]
GO:0005829 [cytosol]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006367 [transcription initiation from RNA polymerase II promoter]
GO:0006879 [cellular iron ion homeostasis]
GO:0007179 [transforming growth factor beta receptor signaling pathway]
GO:0007183 [SMAD protein complex assembly]
GO:0010467 [gene expression]
GO:0010718 [positive regulation of epithelial to mesenchymal transition]
GO:0010862 [positive regulation of pathway-restricted SMAD protein phosphorylation]
GO:0017015 [regulation of transforming growth factor beta receptor signaling pathway]
GO:0030308 [negative regulation of cell growth]
GO:0030509 [BMP signaling pathway]
GO:0030511 [positive regulation of transforming growth factor beta receptor signaling pathway]
GO:0030513 [positive regulation of BMP signaling pathway]
GO:0030616 [transforming growth factor beta receptor, common-partner cytoplasmic mediator activity]
GO:0032444 [activin responsive factor complex]
GO:0032909 [regulation of transforming growth factor beta2 production]
GO:0035019 [somatic stem cell population maintenance]
GO:0035556 [intracellular signal transduction]
GO:0042177 [negative regulation of protein catabolic process]
GO:0042802 [identical protein binding]
GO:0042803 [protein homodimerization activity]
GO:0043565 [sequence-specific DNA binding]
GO:0044212 [transcription regulatory region DNA binding]
GO:0045892 [negative regulation of transcription, DNA-templated]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0046872 [metal ion binding]
GO:0051571 [positive regulation of histone H3-K4 methylation]
GO:0060021 [palate development]
GO:0060391 [positive regulation of SMAD protein import into nucleus]
GO:0060395 [SMAD protein signal transduction]
GO:0070102 [interleukin-6-mediated signaling pathway]
GO:0070411 [I-SMAD binding]
GO:0070412 [R-SMAD binding]
GO:0071141 [SMAD protein complex]
GO:0071559 [response to transforming growth factor beta]
GO:0071773 [cellular response to BMP stimulus]
GO:1901522 [positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus]
GO:2000617 [positive regulation of histone H3-K9 acetylation]
Show all
 552 aa
60.4 kDa 		No 0
SMAD4-004
ENSP00000464901
ENST00000588745
K7EIU8 [Direct mapping]
Mothers against decapentaplegic homolog
Show all
   SCAMPI predicted membrane proteins
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003677 [DNA binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005515 [protein binding]
GO:0005622 [intracellular]
GO:0005654 [nucleoplasm]
GO:0005667 [transcription factor complex]
GO:0005737 [cytoplasm]
GO:0005813 [centrosome]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0007179 [transforming growth factor beta receptor signaling pathway]
Show all
 456 aa
50.1 kDa 		No 0
SMAD4-006
ENSP00000466934
ENST00000589076
K7ENG1 [Direct mapping]
Mothers against decapentaplegic homolog 4
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005622 [intracellular]
GO:0005634 [nucleus]
GO:0005667 [transcription factor complex]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0007179 [transforming growth factor beta receptor signaling pathway]
Show all
 91 aa
9.9 kDa 		No 0
SMAD4-007
ENSP00000464772
ENST00000590061
K7EIJ2 [Direct mapping]
Mothers against decapentaplegic homolog 4
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005622 [intracellular]
GO:0005634 [nucleus]
GO:0005667 [transcription factor complex]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0007179 [transforming growth factor beta receptor signaling pathway]
Show all
 140 aa
15.9 kDa 		No 0
SMAD4-008
ENSP00000466941
ENST00000591914
K7ENG8 [Direct mapping]
Mothers against decapentaplegic homolog 4
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005622 [intracellular]
GO:0005634 [nucleus]
GO:0005667 [transcription factor complex]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0007179 [transforming growth factor beta receptor signaling pathway]
Show all
 151 aa
17 kDa 		No 0
SMAD4-010
ENSP00000465874
ENST00000589941
K7EL15 [Direct mapping]
Mothers against decapentaplegic homolog 4
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005622 [intracellular]
GO:0005634 [nucleus]
GO:0005667 [transcription factor complex]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0007179 [transforming growth factor beta receptor signaling pathway]
Show all
 120 aa
13.7 kDa 		No 0
SMAD4-013
ENSP00000466118
ENST00000593223
K7ELK2 [Direct mapping]
Mothers against decapentaplegic homolog 4
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005515 [protein binding]
GO:0005622 [intracellular]
GO:0006355 [regulation of transcription, DNA-templated]
Show all
 82 aa
8.6 kDa 		No 0
SMAD4-016
ENSP00000465878
ENST00000588860
K7EL18 [Direct mapping]
Mothers against decapentaplegic homolog 4
Show all
Predicted intracellular proteins
Cancer-related genes
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005622 [intracellular]
GO:0005634 [nucleus]
GO:0005667 [transcription factor complex]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0007179 [transforming growth factor beta receptor signaling pathway]
Show all
 126 aa
14.3 kDa 		No 0
SMAD4-201
ENSP00000341551
ENST00000342988
Q13485 [Direct mapping]
Mothers against decapentaplegic homolog 4
A0A024R274 [Target identity:100%; Query identity:100%]
Mothers against decapentaplegic homolog
Show all
   SCAMPI predicted membrane proteins
Predicted intracellular proteins
Transcription factors
   beta-Hairpin exposed by an alpha/beta-scaffold
Cancer-related genes
   Candidate cancer biomarkers
   Mutated cancer genes
   Mutational cancer driver genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Nonsense Mutations
   COSMIC Missense Mutations
   COSMIC Large Deletions
   COSMIC Germline Mutations
   COSMIC Frameshift Mutations
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000122 [negative regulation of transcription from RNA polymerase II promoter]
GO:0000790 [nuclear chromatin]
GO:0000977 [RNA polymerase II regulatory region sequence-specific DNA binding]
GO:0000978 [RNA polymerase II core promoter proximal region sequence-specific DNA binding]
GO:0000987 [core promoter proximal region sequence-specific DNA binding]
GO:0000988 [transcription factor activity, protein binding]
GO:0001076 [transcription factor activity, RNA polymerase II transcription factor binding]
GO:0001077 [transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding]
GO:0001085 [RNA polymerase II transcription factor binding]
GO:0001228 [transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding]
GO:0001658 [branching involved in ureteric bud morphogenesis]
GO:0001666 [response to hypoxia]
GO:0001701 [in utero embryonic development]
GO:0001702 [gastrulation with mouth forming second]
GO:0001822 [kidney development]
GO:0003190 [atrioventricular valve formation]
GO:0003198 [epithelial to mesenchymal transition involved in endocardial cushion formation]
GO:0003251 [positive regulation of cell proliferation involved in heart valve morphogenesis]
GO:0003279 [cardiac septum development]
GO:0003360 [brainstem development]
GO:0003677 [DNA binding]
GO:0003682 [chromatin binding]
GO:0003700 [transcription factor activity, sequence-specific DNA binding]
GO:0005515 [protein binding]
GO:0005518 [collagen binding]
GO:0005622 [intracellular]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005667 [transcription factor complex]
GO:0005737 [cytoplasm]
GO:0005813 [centrosome]
GO:0005829 [cytosol]
GO:0006351 [transcription, DNA-templated]
GO:0006355 [regulation of transcription, DNA-templated]
GO:0006357 [regulation of transcription from RNA polymerase II promoter]
GO:0006367 [transcription initiation from RNA polymerase II promoter]
GO:0006879 [cellular iron ion homeostasis]
GO:0007179 [transforming growth factor beta receptor signaling pathway]
GO:0007183 [SMAD protein complex assembly]
GO:0007369 [gastrulation]
GO:0007411 [axon guidance]
GO:0007492 [endoderm development]
GO:0007498 [mesoderm development]
GO:0008283 [cell proliferation]
GO:0008285 [negative regulation of cell proliferation]
GO:0009952 [anterior/posterior pattern specification]
GO:0010467 [gene expression]
GO:0010718 [positive regulation of epithelial to mesenchymal transition]
GO:0010862 [positive regulation of pathway-restricted SMAD protein phosphorylation]
GO:0014033 [neural crest cell differentiation]
GO:0017015 [regulation of transforming growth factor beta receptor signaling pathway]
GO:0030308 [negative regulation of cell growth]
GO:0030509 [BMP signaling pathway]
GO:0030511 [positive regulation of transforming growth factor beta receptor signaling pathway]
GO:0030513 [positive regulation of BMP signaling pathway]
GO:0030616 [transforming growth factor beta receptor, common-partner cytoplasmic mediator activity]
GO:0032444 [activin responsive factor complex]
GO:0032525 [somite rostral/caudal axis specification]
GO:0032909 [regulation of transforming growth factor beta2 production]
GO:0035019 [somatic stem cell population maintenance]
GO:0035556 [intracellular signal transduction]
GO:0036302 [atrioventricular canal development]
GO:0042118 [endothelial cell activation]
GO:0042127 [regulation of cell proliferation]
GO:0042177 [negative regulation of protein catabolic process]
GO:0042733 [embryonic digit morphogenesis]
GO:0042802 [identical protein binding]
GO:0042803 [protein homodimerization activity]
GO:0043565 [sequence-specific DNA binding]
GO:0044212 [transcription regulatory region DNA binding]
GO:0045892 [negative regulation of transcription, DNA-templated]
GO:0045893 [positive regulation of transcription, DNA-templated]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
GO:0046872 [metal ion binding]
GO:0046982 [protein heterodimerization activity]
GO:0048589 [developmental growth]
GO:0048663 [neuron fate commitment]
GO:0048729 [tissue morphogenesis]
GO:0048733 [sebaceous gland development]
GO:0048859 [formation of anatomical boundary]
GO:0051098 [regulation of binding]
GO:0051571 [positive regulation of histone H3-K4 methylation]
GO:0051797 [regulation of hair follicle development]
GO:0060021 [palate development]
GO:0060391 [positive regulation of SMAD protein import into nucleus]
GO:0060395 [SMAD protein signal transduction]
GO:0060548 [negative regulation of cell death]
GO:0060956 [endocardial cell differentiation]
GO:0070102 [interleukin-6-mediated signaling pathway]
GO:0070411 [I-SMAD binding]
GO:0070412 [R-SMAD binding]
GO:0071141 [SMAD protein complex]
GO:0071559 [response to transforming growth factor beta]
GO:0071773 [cellular response to BMP stimulus]
GO:0072133 [metanephric mesenchyme morphogenesis]
GO:0072134 [nephrogenic mesenchyme morphogenesis]
GO:0090575 [RNA polymerase II transcription factor complex]
GO:1901522 [positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus]
GO:2000617 [positive regulation of histone H3-K9 acetylation]
Show all
 552 aa
60.4 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.