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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... See more...
Aliases for SMAD7 Gene
Aliases for SMAD7 Gene
External Ids for SMAD7 Gene
- HGNC: 6773
- NCBI Entrez Gene: 4092
- Ensembl: ENSG00000101665
- OMIM®: 602932
- UniProtKB/Swiss-Prot: O15105
Previous HGNC Symbols for SMAD7 Gene
- MADH8
- MADH7
Previous GeneCards Identifiers for SMAD7 Gene
- GC18M044699
- GC18M044700
- GC18M046446
- GC18M043299
Summaries for SMAD7 Gene
-
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]
GeneCards Summary for SMAD7 Gene
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.
UniProtKB/Swiss-Prot Summary for SMAD7 Gene
-
Antagonist of signaling by TGF-beta (transforming growth factor) type 1 receptor superfamily members; has been shown to inhibit TGF-beta (Transforming growth factor) and activin signaling by associating with their receptors thus preventing SMAD2 access. Functions as an adapter to recruit SMURF2 to the TGF-beta receptor complex. Also acts by recruiting the PPP1R15A-PP1 complex to TGFBR1, which promotes its dephosphorylation. Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator.
Additional gene information for SMAD7 Gene
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SMAD7 Gene
Genomics for SMAD7 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for SMAD7 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around SMAD7 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SMAD7
- Top Transcription factor binding sites by QIAGEN in the SMAD7 gene promoter:
-
- AhR
- HFH-1
- HNF-4alpha1
- MyoD
- p300
- Pax-5
- STAT1
Genomic Locations for SMAD7 Gene
Latest Assembly
- chr18:48,919,853-48,952,052
- (GRCh38/hg38)
- Size:
- 32,200 bases
- Orientation:
- Minus strand
Previous Assembly
- chr18:46,446,223-46,477,335
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 31,113 bases
- Orientation:
- Minus strand
Genomic View for SMAD7 Gene
Genes around SMAD7 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 18q21.1 by HGNC
- 18q21.1 by Entrez Gene
- 18q21.1 by Ensembl
SMAD7 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for SMAD7 Gene
Proteins for SMAD7 Gene
-
Protein details for SMAD7 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- O15105-SMAD7_HUMAN
- Recommended name:
- Mothers against decapentaplegic homolog 7
- Protein Accession:
- O15105
- B7Z773
- K7EQ10
- O14740
- Q6DK23
Protein attributes for SMAD7 Gene
- Size:
- 426 amino acids
- Molecular mass:
- 46426 Da
- Quaternary structure:
-
- Interacts with WWP1 (By similarity). Interacts with COPS5. Interacts with NEDD4L. Interacts with STAMBP. Interacts with RNF111, AXIN1 and AXIN2. Interacts with PPP1R15A. Interacts (via MH2 domain) with EP300. Interacts with ACVR1B, SMURF1, SMURF2 and TGFBR1; SMAD7 recruits SMURF1 and SMURF2 to the TGF-beta receptor and regulates its degradation. Interacts with PDPK1 (via PH domain).
Three dimensional structures from OCA and Proteopedia for SMAD7 Gene
Post-translational modifications for SMAD7 Gene
- Phosphorylation on Ser-249 does not affect its stability, nuclear localization or inhibitory function in TGFB signaling; however it affects its ability to regulate transcription (By similarity). Phosphorylated by PDPK1.
- Ubiquitinated by WWP1 (By similarity). Polyubiquitinated by RNF111, which is enhanced by AXIN1 and promotes proteasomal degradation (PubMed:14657019, PubMed:16601693). In response to TGF-beta, ubiquitinated by SMURF1; which promotes its degradation (PubMed:11278251).
- Acetylation prevents ubiquitination and degradation mediated by SMURF1.
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for SMAD7 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences SMAD7 Antibody
- G Biosciences Immunotag™ Smad7 Antibody
- NSJ Bioreagents SMAD7 Antibody
- Novus Biologicals Antibodies for SMAD7
- Invitrogen Antibodies for SMAD7 (AFLGC-SMAD7)
-
Biorbyt antibodies for SMAD7
-
Santa Cruz Biotechnology (SCBT) Antibodies for SMAD7
- Sino Biological Antibodies for SMAD7
Protein products for research
-
OriGene Purified Proteins for SMAD7
- Search Origene for MassSpec and Protein Over-expression Lysates for SMAD7
- Origene Custom Protein Services for SMAD7
-
Abcam proteins for SMAD7
Assay products for research
- Novus Biologicals ELISA Kits for SMAD7
- antibodies-online: Show 54 available SMAD7 Elisa Kits ranked by validation data
- Compare Top SMAD7 Elisa Kits
-
Quality Products:
- ABIN1116034
- ABIN414598
- ABIN365976
- ABIN1572450
- ABIN5519624
- ABIN5668739
- ABIN5592608
- ABIN626580
- ABIN5656970
- ABIN4972870
- ABIN1117132
- ABIN5521568
- ABIN2851532
- ABIN628188
- ABIN5592609
- ABIN4972871
- ABIN2949580
- ABIN5070723
- ABIN455904
- ABIN1116033
- ABIN367532
- ABIN416178
- ABIN1572451
- ABIN5521569
- ABIN627377
- ABIN5656972
- ABIN4972869
- ABIN2536784
- ABIN6207572
No data available for DME Specific Peptides for SMAD7 Gene
Domains & Families for SMAD7 Gene
Gene Families for SMAD7 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
- Transcription factors
Protein Domains for SMAD7 Gene
- InterPro:
- Blocks:
-
- Dwarfin protein
Suggested Antigen Peptide Sequences for SMAD7 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ57868, highly similar to Mothers against decapentaplegic homolog 7 (SMAD 7) (B7Z773_HUMAN)
- SMAD family member 7 (SMAD7_HUMAN)
Graphical View of Domain Structure for InterPro Entry
O15105- Family:
-
- Belongs to the dwarfin/SMAD family.
Function for SMAD7 Gene
Molecular function for SMAD7 Gene
- UniProtKB/Swiss-Prot Function:
- Antagonist of signaling by TGF-beta (transforming growth factor) type 1 receptor superfamily members; has been shown to inhibit TGF-beta (Transforming growth factor) and activin signaling by associating with their receptors thus preventing SMAD2 access. Functions as an adapter to recruit SMURF2 to the TGF-beta receptor complex. Also acts by recruiting the PPP1R15A-PP1 complex to TGFBR1, which promotes its dephosphorylation. Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator.
- UniProtKB/Swiss-Prot Induction:
- By TGFB1.
Phenotypes From GWAS Catalog for SMAD7 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003677 | DNA binding | IEA | -- |
| GO:0003700 | DNA-binding transcription factor activity | IEA | -- |
| GO:0005515 | protein binding | IEA,IPI | 14993265 |
| GO:0005518 | collagen binding | IEA | -- |
| GO:0008013 | beta-catenin binding | IPI | 18593713 |
Phenotypes for SMAD7 Gene
- MGI mutant phenotypes for SMAD7:
-
inferred from 8 alleles
- normal phenotype
- muscle phenotype
- homeostasis/metabolism phenotype
- growth/size/body region phenotype
- cellular phenotype
- cardiovascular system phenotype
- behavior/neurological phenotype
- immune system phenotype
- mortality/aging
- hematopoietic system phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- integument phenotype
- embryo phenotype
- craniofacial phenotype
- GenomeRNAi human phenotypes for SMAD7:
Animal Models for SMAD7 Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SMAD7 - Starting at $85 >
- * SMAD7 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for SMAD7
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SMAD7
-
Santa Cruz Biotechnology (SCBT) CRISPR for SMAD7
miRNA for SMAD7 Gene
- miRTarBase miRNAs that target SMAD7
-
- hsa-miR-217 (MIRT007153)
- hsa-miR-216a-5p (MIRT007154)
- hsa-miR-25-3p (MIRT007242)
- hsa-miR-21-5p (MIRT007362)
- mmu-miR-15a-5p (MIRT011599)
- mmu-miR-122-5p (MIRT013535)
- mmu-miR-149-5p (MIRT014471)
- hsa-miR-103a-3p (MIRT027015)
- hsa-miR-98-5p (MIRT027482)
- hsa-miR-26b-5p (MIRT028980)
- hsa-miR-16-5p (MIRT031521)
- hsa-miR-15b-5p (MIRT046499)
- hsa-miR-100-5p (MIRT048391)
- hsa-miR-92a-3p (MIRT049511)
- hsa-miR-20a-5p (MIRT053159)
- hsa-miR-106b-5p (MIRT053873)
- hsa-miR-93-5p (MIRT053874)
- mmu-miR-21a-5p (MIRT054589)
- hsa-miR-33a-3p (MIRT080118)
- hsa-miR-520g-3p (MIRT437832)
- hsa-miR-544a (MIRT439586)
- hsa-miR-376a-3p (MIRT439587)
- hsa-miR-374b-3p (MIRT501063)
- hsa-miR-7108-5p (MIRT501064)
- hsa-miR-573 (MIRT501065)
- hsa-miR-3616-5p (MIRT501066)
- hsa-miR-4524b-5p (MIRT501067)
- hsa-miR-4524a-5p (MIRT501068)
- hsa-miR-644a (MIRT501069)
- hsa-miR-663b (MIRT501070)
- hsa-miR-6735-3p (MIRT501071)
- hsa-miR-766-5p (MIRT501072)
- hsa-miR-4795-5p (MIRT501073)
- hsa-miR-3664-3p (MIRT501074)
- hsa-miR-4433a-3p (MIRT501075)
- hsa-miR-4459 (MIRT501076)
- hsa-miR-4768-3p (MIRT501077)
- hsa-miR-545-3p (MIRT501078)
- hsa-miR-3973 (MIRT501079)
- hsa-miR-1244 (MIRT501080)
- hsa-miR-646 (MIRT501081)
- hsa-miR-510-5p (MIRT501082)
- hsa-miR-595 (MIRT501083)
- hsa-miR-503-5p (MIRT501084)
- hsa-miR-6838-5p (MIRT501085)
- hsa-miR-195-5p (MIRT501086)
- hsa-miR-497-5p (MIRT501087)
- hsa-miR-424-5p (MIRT501088)
- hsa-miR-15a-5p (MIRT501089)
- mmu-miR-3065-5p (MIRT588860)
- hsa-miR-32-5p (MIRT726491)
- hsa-miR-92b-3p (MIRT726492)
- hsa-miR-185-5p (MIRT731249)
- mmu-miR-877-3p (MIRT733588)
- hsa-miR-4775 (MIRT733805)
- hsa-miR-519d-3p (MIRT734469)
- rno-miR-21-5p (MIRT734698)
- hsa-miR-21-5p (MIRT734699)
- hsa-miR-590-5p (MIRT735521)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SMAD7
- Browse OriGene Inhibitory RNA Products For SMAD7
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMAD7
Clone products for research
- Applied Biological Materials (abm): Clones for SMAD7 - Starting at $45 >
- * SMAD7 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG226590
- MR226590
- MR226590L1
- MR226590L2
- MR226590L3
- MR226590L4
- RC210400
- RC210400L1
- RC210400L2
- RC210400L3
- RC210400L4
- RC230776
- RC230776L3
- RC230776L4
- RC230830
- RC230830L3
- RC230830L4
- RC231085
- RC231085L3
- RC231085L4
- RG210400
- RG230776
- RG230830
- RG231085
- RR215428
- RR215428L3
- RR215428L4
- MR226590L1V
- MR226590L2V
- MR226590L3V
- MR226590L4V
- RC210400L1V
- RC210400L2V
- RC210400L3V
- RC210400L4V
- RC230776L3V
- RC230776L4V
- RC230830L3V
- RC230830L4V
- RC231085L3V
- RC231085L4V
- RR215428L3V
- RR215428L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SMAD7
- Addgene plasmids for SMAD7
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SMAD7
Cell Lines for research
-
Horizon Cell Lines for SMAD7
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for SMAD7 Gene
Localization for SMAD7 Gene
Subcellular locations from UniProtKB/Swiss-Prot for SMAD7 Gene
- Nucleus. Cytoplasm. Note=Interaction with NEDD4L or RNF111 induces translocation from the nucleus to the cytoplasm (PubMed:16601693). TGF-beta stimulates its translocation from the nucleus to the cytoplasm. PDPK1 inhibits its translocation from the nucleus to the cytoplasm in response to TGF-beta (PubMed:17327236). {ECO:0000269 PubMed:16601693, ECO:0000269 PubMed:17327236}.
| Compartment | Confidence |
|---|---|
| cytoskeleton | 5 |
| nucleus | 5 |
| cytosol | 5 |
| plasma membrane | 4 |
| extracellular | 3 |
| mitochondrion | 2 |
| peroxisome | 2 |
| endoplasmic reticulum | 2 |
| endosome | 2 |
| lysosome | 2 |
| golgi apparatus | 1 |
- Cytosol (3)
- Nucleoplasm (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000785 | chromatin | ISA | -- |
| GO:0001650 | fibrillar center | IDA | -- |
| GO:0005634 | nucleus | IEA,IDA | 11278251 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005667 | transcription factor complex | IEA | -- |
Pathways & Interactions for SMAD7 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Transcriptional activity of SMAD2/SMAD3-SMAD4 heterotrimer | ||
| 2 | Deubiquitination |
.74
|
|
| 3 | TGF-beta receptor signaling activates SMADs | ||
| 4 | Gene Expression |
.48
|
|
| 5 | Metabolism of proteins | ||
Pathways by source for SMAD7 Gene
1 Sino Biological pathway for SMAD7 Gene
12 BioSystems pathways for SMAD7 Gene
14 Reactome pathways for SMAD7 Gene
2 KEGG pathways for SMAD7 Gene
3 GeneGo (Thomson Reuters) pathways for SMAD7 Gene
- Development_TGF-beta receptor signaling
- Immune response IFN gamma signaling pathway
- Signal transduction Activin A signaling regulation
1 R&D Systems pathway for SMAD7 Gene
1 GeneTex pathway for SMAD7 Gene
Interacting Proteins for SMAD7 Gene
Selected Interacting proteins:
O15105-SMAD7_HUMAN
ENSP00000262158
for SMAD7 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for SMAD7
SIGNOR curated interactions for SMAD7 Gene
| 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:0006357 | regulation of transcription by RNA polymerase II | IBA | 21873635 |
Transcripts for SMAD7 Gene
mRNA/cDNA for SMAD7 Gene
- 4 REFSEQ mRNAs :
- 8 NCBI additional mRNA sequence :
- 8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000262158 4428 nts (view in UCSC)
- ENST00000545051 2211 nts (view in UCSC)
- ENST00000585986 563 nts (view in UCSC)
- ENST00000586093 574 nts (view in UCSC)
- ENST00000587336 549 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for SMAD7 - Starting at $85 >
- * SMAD7 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for SMAD7
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SMAD7
-
Santa Cruz Biotechnology (SCBT) CRISPR for SMAD7
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for SMAD7
- Browse OriGene Inhibitory RNA Products For SMAD7
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMAD7
Clone products for research
- Applied Biological Materials (abm): Clones for SMAD7 - Starting at $45 >
- * SMAD7 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
-
- MG226590
- MR226590
- MR226590L1
- MR226590L2
- MR226590L3
- MR226590L4
- RC210400
- RC210400L1
- RC210400L2
- RC210400L3
- RC210400L4
- RC230776
- RC230776L3
- RC230776L4
- RC230830
- RC230830L3
- RC230830L4
- RC231085
- RC231085L3
- RC231085L4
- RG210400
- RG230776
- RG230830
- RG231085
- RR215428
- RR215428L3
- RR215428L4
- MR226590L1V
- MR226590L2V
- MR226590L3V
- MR226590L4V
- RC210400L1V
- RC210400L2V
- RC210400L3V
- RC210400L4V
- RC230776L3V
- RC230776L4V
- RC230830L3V
- RC230830L4V
- RC231085L3V
- RC231085L4V
- RR215428L3V
- RR215428L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for SMAD7
- Addgene plasmids for SMAD7
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SMAD7
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | · | 6c | · | 6d | · | 6e |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||||
| SP2: | - | - | - | - | |||||||||||||||||
| SP3: | - | - | - | - | |||||||||||||||||
| SP4: | - | - | |||||||||||||||||||
| SP5: | - | ||||||||||||||||||||
| SP6: |
Relevant External Links for SMAD7 Gene
- GeneLoc Exon Structure for
- SMAD7
Expression for SMAD7 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Glial Cells
- Myelinating Oligodendrocyte Cells Forebrain White Matter
- Myelinating Oligodendrocyte Cells Spinal Cord White Matter
-
Brain (Nervous System)
- Myelinating Oligodendrocyte Cells Forebrain White Matter
-
Spinal Cord (Nervous System)
- Myelinating Oligodendrocyte Cells Spinal Cord White Matter
mRNA differential expression in normal tissues according to GTEx for SMAD7 Gene
This gene is overexpressed in Artery - Tibial (x4.9) and Heart - Atrial Appendage (x4.6).
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SMAD7
SOURCE GeneReport for Unigene cluster for SMAD7 Gene:
Hs.465087mRNA Expression by UniProt/SwissProt for SMAD7 Gene:
O15105-SMAD7_HUMAN
Tissue specificity:
Ubiquitous with higher expression in the lung and vascular endothelium.
Evidence on tissue expression from TISSUES for SMAD7 Gene
- Heart(4.6)
- Lung(4.6)
- Nervous system(4.5)
- Muscle(3.1)
- Kidney(3)
- Blood(2.7)
- Liver(2.7)
- Intestine(2.7)
- Skin(2.6)
- Bone marrow(2.6)
- Lymph node(2.4)
- Spleen(2.3)
- Thyroid gland(2.3)
- Stomach(2.2)
- Pancreas(2.2)
- Bone(2)
Primer products for research
-
OriGene qPCR primer pairs for SMAD7
-
OriGene qPCR primer pairs and template standards for SMAD7
Gene Expression Assays for research
No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for SMAD7 Gene
Orthologs for SMAD7 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | SMAD7 29 30 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | SMAD7 30 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Smad7 29 16 30 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | SMAD7 29 30 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Smad7 29 |
|
||
| Cow (Bos Taurus) |
Mammalia | SMAD7 29 30 |
|
OneToOne | |
| Oppossum (Monodelphis domestica) |
Mammalia | SMAD7 30 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | SMAD7 29 30 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | SMAD7 30 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | smad7 29 |
|
||
| Str.18078 29 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | madh7 29 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | smad7 29 30 |
|
OneToOne | |
| madh7 29 |
|
||||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Dad 30 |
|
OneToMany | |
| Worm (Caenorhabditis elegans) |
Secernentea | daf-8 30 |
|
ManyToMany | |
| Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.9437 30 |
|
OneToMany |
- Species where no ortholog for SMAD7 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- Green Algae (Chlamydomonas reinhardtii)
- Honey Bee (Apis mellifera)
- K. Lactis Yeast (Kluyveromyces lactis)
- Loblloly Pine (Pinus taeda)
- Malaria Parasite (Plasmodium falciparum)
- Medicago Trunc (Medicago Truncatula)
- Moss (Physcomitrella patens)
- Orangutan (Pongo pygmaeus)
- Pig (Sus scrofa)
- Rainbow Trout (Oncorhynchus mykiss)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (Ciona intestinalis)
- Sea Urchin (Strongylocentrotus purpuratus)
- Sorghum (Sorghum bicolor)
- Soybean (Glycine max)
- Stem Rust Fungus (Puccinia graminis)
- Sugarcane (Saccharum officinarum)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for SMAD7 Gene
- ENSEMBL:
- Gene Tree for SMAD7 (if available)
- TreeFam:
- Gene Tree for SMAD7 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for SMAD7: view image
- Alliance of Genome Resources:
- Additional Orthologs for SMAD7
Paralogs for SMAD7 Gene
Variants for SMAD7 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SMAD7 Gene
| SNP ID | Clinical significance and condition | Chr 18 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1035236065 | Likely Benign: not provided | 48,950,241(-) |
G/A NM_005904.3(SMAD7):c.184C>T (p.Leu62=) |
SYNONYMOUS | |
| rs144204026 | Benign: not provided | 48,950,310(-) |
C/T NM_005904.3(SMAD7):c.115G>A (p.Gly39Arg) |
MISSENSE | |
| rs145686330 | Benign: not provided. Benign: not provided | 48,948,427(-) |
G/AG/T NM_005904.3(SMAD7):c.624C>T (p.Pro208=) |
SYNONYMOUS_VARIANT,FIVE_PRIME_UTR | |
| rs149492644 | Benign: not provided | 48,921,567(-) |
G/A NM_005904.3(SMAD7):c.1086C>T (p.Pro362=) |
SYNONYMOUS | |
| rs4939827 | Risk Factor: Colorectal cancer 3 | 48,927,093(-) |
T/. NM_005904.3(SMAD7):c.743-5183= |
INTRON |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
Residual Variation Intolerance Score:
19.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.24;
24.85% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for SMAD7 Gene
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SMAD7 Gene
Disorders for SMAD7 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| colorectal cancer 3 |
|
|
| breast cancer |
|
|
| colitis |
|
|
| fibrodysplasia ossificans progressiva |
|
|
| ulcerative colitis |
|
|
Search SMAD7 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
SMAD7_HUMAN- Colorectal cancer 3 (CRCS3) [MIM:612229]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. {ECO:0000269 PubMed:17934461}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
Additional Disease Information for SMAD7
- Human Genome Epidemiology Navigator
- (HuGE)
- Atlas
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
- Open Targets Platform
No data available for Genatlas for SMAD7 Gene
Publications for SMAD7 Gene
- A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk. (PMID: 17934461) Broderick P … Houlston RS (Nature genetics 2007) 3 4 40 72
- Vascular MADs: two novel MAD-related genes selectively inducible by flow in human vascular endothelium. (PMID: 9256479) Topper JN … Falb D (Proceedings of the National Academy of Sciences of the United States of America 1997) 2 3 4 22
- Increased risk of colon cancer associated with a genetic polymorphism of SMAD7. (PMID: 20124488) Slattery ML … Peters U (Cancer research 2010) 3 22 40
- A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. (PMID: 18372905) Tomlinson IP … Houlston RS (Nature genetics 2008) 3 40 72
- Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21. (PMID: 18372901) Tenesa A … Dunlop MG (Nature genetics 2008) 3 40 72
ExternalLinks
Products for SMAD7 Gene
- Custom Antibody ServicesOriGene Antibodies for SMAD7
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- MG226590
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- RR215428L3V
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- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
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- Novus Biologicals proteins and lysates for SMAD7
- Novus Biologicals ELISA Kits for SMAD7
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- Invitrogen Antibodies for SMAD7 (AFLGC-SMAD7)
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- VectorBuilder Viral vectors for SMAD7 (ie. lentivirus, AAV, adenovirus)
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- VectorBuilder Stable cell line generation for SMAD7
- Addgene plasmids for SMAD7
- antibodies-online: Show 20 available SMAD7 Antibodies ranked by validation data
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- antibodies-online: Show 54 available SMAD7 Elisa Kits ranked by validation data
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- ABIN2536784
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- antibodies-online: Show 8 available SMAD7 Proteins ranked by validation data
- Compare Top SMAD7 Proteins
- Santa Cruz Biotechnology (SCBT) Antibodies for SMAD7
- Search Santa Cruz Biotechnology (SCBT) for SMAD7 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for SMAD7
- Horizon Cell Lines for SMAD7
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for SMAD7
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for SMAD7
- Search GeneCopoeia for miRNA 3'UTR Target clone products for SMAD7
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SMAD7
- Biorbyt antibodies for SMAD7
Sources for SMAD7 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Apr-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) ASD
- (27) SAGE
- (28) SOURCE
- (29) HomoloGene
- (30) PanEnsembl
- (31) euGenes
- (32) SGD
- (33) FlyBase
- (34) WormBase
- (35) Pseudogene
- (36) DGV
- (37) dbSNP
- (38) GenAtlas
- (39) HGMD
- (40) GAD
- (41) BGMUT
- (42) HuGE
- (43) Atlas
- (44) GenBank
- (45) HORDE
- (46) HUGE
- (47) IMGT
- (48) Leiden
- (49) miRBase
- (50) DME
- (51) OriGene
- (52) PubMed
- (53) R&D Systems
- (54) Tocris
- (55) Abcam
- (56) Novus Biologicals
- (57) ProSpec
- (58) Sino Biological
- (59) GenScript
- (60) Qiagen
- (61) OCA
- (62) Proteopedia
- (63) MOPED
- (64) neXtProt
- (65) Reactome
- (66) GeneGo (Thomson Reuters)
- (67) DISEASES
- (68) SIMAP
- (69) GenomeRNAi
- (70) LifeMap
- (71) miRTarBase
- (72) MalaCards
- (73) Invitrogen
- (74) BitterDB
- (75) ESI-BIO
- (76) RefSeq
- (77) BioSystems
- (78) MaxQB
- (79) IUPHAR
- (80) BioGPS
- (81) Illumina
- (82) COMPARTMENTS
- (83) HOMER
- (84) PaxDb
- (85) ApexBio
- (86) Addgene
- (87) antibodies-online
- (88) CYP
- (89) NONCODE
- (90) TreeFam
- (91) PathCards
- (92) GeneReviews
- (93) GeneTex
- (94) Taconic Biosciences
- (95) GTEx
- (96) ProteomicsDB
- (97) SCBT
- (98) DGIdb
- (99) ClinicalTrials
- (100) RVIS
- (101) SIGNOR
- (102) diseasecard
- (103) NIH Rare Diseases
- (104) Orphanet
- (105) UMLS
- (106) GTR
- (107) Disease Ontology
- (108) MedlinePlus Genetics
- (109) MeSH
- (110) MedlinePlus
- (111) CDC
- (112) NINDS
- (113) NCBI Bookshelf
- (114) ClinVar
- (115) Gene Damage Index
- (116) HPO
- (117) UDN
- (118) VISTA
- (119) FANTOM5
- (120) ENCODE
- (121) ProSci
- (122) Horizon
- (123) The Signaling Pathways Project (SPP)
- (124) IID
- (125) VectorBuilder
- (126) SNPedia
- (127) BRCA Exchange
- (128) CIViC
- (129) ProteoGenix
- (130) dbSUPER
- (131) TISSUES
- (132) Gene ORGANizer
- (133) abm
- (134) Human Protein Atlas
- (135) GWAS Catalog
- (136) Monarch Initiative
- (137) DataMed
- (138) HumanCyc
- (139) UCNEbase
- (140) EPDnew
- (141) Applied Biosystems
- (142) GlyConnect
- (143) Aminode
- (144) GeneCopoeia
- (145) GPS-Prot
- (146) RNAcentral
- (147) LncRNADisease
- (148) LOVD
- (149) miR2Disease
- (150) DiseaseEnhancer
- (151) Boster Bio
- (152) Biorbyt
- (153) Biocompare
- (154) Mastermind
- (155) CTD^2 Dashboard
- (156) CraniofacialAtlas
- (157) GeneImprint
- (158) Synthego
- (159) ENA
- (160) GtRNAdb
- (161) LncBase
- (162) LncBook
- (163) LNCipedia
- (164) Modomics
- (165) PDBe
- (166) Rfam
- (167) SILVA
- (168) snOPY
- (169) SRPDB
- (170) GENCODE
- (171) TarBase
- (172) Open Targets Platform
- (173) 5SRRNADB
- (174) snoDB
- (175) MirGeneDB
- (176) Alliance of Genome Resources