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The protein encoded by this gene is a nuclear protein that binds the E3 ubiquitin ligase SMURF2. Upon binding, this complex translocates to the cytoplasm, where it interacts with TGF-beta receptor type-1 (TGFBR1), leading to the degradation of both the encoded protein and TGFBR1. Expression of this gene is induced by TGFBR1. Variations in this gene are a cause of susceptibility to colorectal cancer type 3 (CRCS3). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]
SMAD7 (SMAD Family Member 7) is a Protein Coding gene. Diseases associated with SMAD7 include Colorectal Cancer 3 and Breast Cancer. Among its related pathways are Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription regulatory region DNA binding. An important paralog of this gene is SMAD6.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000976 | transcription regulatory region sequence-specific DNA binding | IDA | 17438144 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO:0003700 | DNA-binding transcription factor activity | IEA | -- |
GO:0005515 | protein binding | IEA,IPI | 14993265 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0001650 | fibrillar center | IDA | -- |
GO:0005634 | nucleus | IEA,IDA | 11278251 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005667 | transcription factor complex | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer | ||
2 | Deubiquitination |
.74
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3 | TGF-beta receptor signaling activates SMADs | ||
4 | Gene Expression |
.48
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5 | Metabolism of proteins |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA | 17438144 |
GO:0001657 | ureteric bud development | IEA | -- |
GO:0002725 | negative regulation of T cell cytokine production | ISS | -- |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0007179 | transforming growth factor beta receptor signaling pathway | IEA | -- |
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | · | 6d | · | 6e |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||
SP2: | - | - | - | - | |||||||||||||||||
SP3: | - | - | - | - | |||||||||||||||||
SP4: | - | - | |||||||||||||||||||
SP5: | - | ||||||||||||||||||||
SP6: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | SMAD7 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | SMAD7 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Smad7 30 17 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | SMAD7 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Smad7 30 |
|
||
Cow (Bos Taurus) |
Mammalia | SMAD7 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | SMAD7 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | SMAD7 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | SMAD7 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | smad7 30 |
|
||
Str.18078 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | madh7 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | smad7 30 31 |
|
OneToOne | |
madh7 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Dad 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | daf-8 31 |
|
ManyToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.9437 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
713314 | Benign: not provided | 48,948,427(-) | G/T | SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT | |
714872 | Benign: not provided | 48,921,567(-) | G/A | SYNONYMOUS_VARIANT | |
718639 | Benign: not provided | 48,950,310(-) | C/T | MISSENSE_VARIANT | |
743759 | Likely Benign: not provided | 48,950,241(-) | G/A | SYNONYMOUS_VARIANT | |
786841 | Benign: not provided | 48,948,427(-) | G/A | SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
colorectal cancer 3 |
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breast cancer |
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colitis |
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ulcerative colitis |
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fibrodysplasia ossificans progressiva |
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|