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GENE AND PROTEIN SUMMARY

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Gene name

SMAD4

Description

SMAD family member 4

Protein class

Candidate cancer biomarkers, Mapped to UniProt SWISS-PROT, Mutated genes in cancer, Potential transmembrane proteins, Transcription factors

Protein evidence

High

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]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

11 in total
0 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Nucleus but not nucleoli, Cytoplasm, Centrosome

Additional location(s)

 

Staining summary

Staining of centrosom, cytoplasm and nucleus in all three cell lines.

Reliability (Single)

Antibodies in assay

HPA019154
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

Cytoplasmic expression in many cell types with highest expression levels in placenta and gastrointestinal tract.

Tissue specificity

Expressed in 59 out of 81 cell types

Reliability (APE)

Low

Antibodies in assay

CAB002312, HPA019154
 

Organ

No of cell types

Protein expression

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 12
Respiratory (lung) 4
Cardiovascular 1
Female tissues 13
Placenta 2
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 14
Endocrine tissues 3

Level of annotated protein expression





High
Medium
Low
None

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 41% of the cancers

Antibodies in assay

CAB002312, HPA019154
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Breast cancer
 
Carcinoid
 
Cervical cancer
 
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Glioma
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Lymphoma
 
 
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Melanoma
 
Ovarian cancer
 
Pancreatic cancer
 
Prostate cancer
 
Renal cancer
 
Skin cancer
 
Stomach cancer
 
 
Testis cancer
 
Thyroid cancer
 
Urothelial cancer
 

Level of antibody staining





Strong
Moderate
Weak
Negative

CELL LINE SUMMARY

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RNA evidence

High
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

CAB002312

HPA019154

HPA019154

A-431 Skin High
Moderate
A-549 Lung High
CACO-2 Colon Medium
HEK 293 Embryonal kidney High
HeLa Cervix High
Hep-G2 Liver High
MCF-7 Pleural effusion Medium
PC-3 Bone marrow High
RT-4 Urinary bladder Medium
U-2 OS Bone High
Moderate
U-251 MG Brain High
Strong

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

CAB002312 mAb
HPA019154 pAb