Gene Gene information from NCBI Gene database.
Entrez ID 4087
Gene name SMAD family member 2
Gene symbol SMAD2
Synonyms (NCBI Gene)
CHTD8JV18JV18-1LDS6MADH2MADR2hMAD-2hSMAD2
Chromosome 18
Chromosome location 18q21.1
Summary The protein encoded by this gene belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene `mothers against decapentaplegic` (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional mo
SNPs SNP information provided by dbSNP.
5
SNP ID Visualize variation Clinical significance Consequence
rs797044882 C>G Pathogenic Missense variant, genic downstream transcript variant, coding sequence variant
rs1064793873 C>A Pathogenic 5 prime UTR variant, stop gained, coding sequence variant
rs1131691755 A>T Pathogenic Genic upstream transcript variant, 5 prime UTR variant, stop gained, coding sequence variant
rs1555658568 C>T Likely-pathogenic Genic upstream transcript variant, stop gained, coding sequence variant, 5 prime UTR variant
rs1598802389 ->GG Pathogenic Coding sequence variant, 5 prime UTR variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
1114
miRTarBase ID miRNA Experiments Reference
MIRT005872 hsa-miR-155-5p Luciferase reporter assayqRT-PCRWestern blot 21036908
MIRT005872 hsa-miR-155-5p Luciferase reporter assayqRT-PCRWestern blot 21036908
MIRT005872 hsa-miR-155-5p Luciferase reporter assayqRT-PCRWestern blot 21036908
MIRT005872 hsa-miR-155-5p Luciferase reporter assayqRT-PCRWestern blot 21036908
MIRT007290 hsa-miR-200a-3p Luciferase reporter assay 22020340
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
147
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IDA 21828274
GO:0000785 Component Chromatin ISA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 9389648, 31582430
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601366 6768 ENSG00000175387
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q15796
Protein name Mothers against decapentaplegic homolog 2 (MAD homolog 2) (Mothers against DPP homolog 2) (JV18-1) (Mad-related protein 2) (hMAD-2) (SMAD family member 2) (SMAD 2) (Smad2) (hSMAD2)
Protein function Receptor-regulated SMAD (R-SMAD) that is an intracellular signal transducer and transcriptional modulator activated by TGF-beta (transforming growth factor) and activin type 1 receptor kinases. Binds the TRE element in the promoter region of man
PDB 1DEV , 1KHX , 1U7V , 2LB3 , 5XOD , 5ZOJ , 6M64 , 6YIA , 6ZVQ , 7CO1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03165 MH1 41 171 MH1 domain Domain
PF03166 MH2 272 443 MH2 domain Family
Tissue specificity TISSUE SPECIFICITY: Expressed at high levels in skeletal muscle, endothelial cells, heart and placenta. {ECO:0000269|PubMed:21599657}.
Sequence
Sequence length 467
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cell cycle
Endocytosis
Cellular senescence
TGF-beta signaling pathway
Apelin signaling pathway
Hippo signaling pathway
Signaling pathways regulating pluripotency of stem cells
Th17 cell differentiation
Relaxin signaling pathway
AGE-RAGE signaling pathway in diabetic complications
Chagas disease
Human T-cell leukemia virus 1 infection
Pathways in cancer
Proteoglycans in cancer
Colorectal cancer
Pancreatic cancer
Hepatocellular carcinoma
Gastric cancer
Inflammatory bowel disease
Diabetic cardiomyopathy
  Signaling by NODAL
Signaling by Activin
Downregulation of TGF-beta receptor signaling
TGF-beta receptor signaling activates SMADs
Downregulation of SMAD2/3:SMAD4 transcriptional activity
SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
SMAD2/3 Phosphorylation Motif Mutants in Cancer
SMAD4 MH2 Domain Mutants in Cancer
SMAD2/3 MH2 Domain Mutants in Cancer
TGFBR1 KD Mutants in Cancer
Transcriptional regulation of pluripotent stem cells
Ub-specific processing proteases
FOXO-mediated transcription of cell cycle genes
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
52
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Congenital heart defects, multiple types, 8, with or without heterotaxy Pathogenic rs1402819968, rs367537998, rs797044882, rs2511349735, rs1064793873, rs397509416 RCV001789799
RCV002292376
RCV001789764
RCV004560530
RCV001789776
RCV001789751
Loeys-Dietz syndrome 1 Likely pathogenic rs2511351266 RCV002288454
Loeys-Dietz syndrome 6 Pathogenic; Likely pathogenic rs2144276285, rs2144373131, rs2144300077, rs745853643, rs2511326359 RCV001789796
RCV001789800
RCV002249173
RCV002305874
RCV002471528
SMAD2-related cardiac disorders Pathogenic rs367537999 RCV003335853
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Likely benign rs9304356 RCV005911470
Familial cancer of breast Likely benign rs72661147 RCV005919240
Familial thoracic aortic aneurysm and aortic dissection Conflicting classifications of pathogenicity; Benign rs370352616, rs149135973, rs1051066 RCV005416039
RCV003485726
RCV003485664
Gastric cancer Benign; Likely benign rs2282656, rs72661147 RCV005917723
RCV005919242
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acromicric dysplasia Associate 18677313
Adenocarcinoma of Lung Associate 36119068
Adenoma Associate 23108401
Allergic Fungal Sinusitis Associate 31664133
Allergic Fungal Sinusitis Inhibit 36976645
Amyloidosis Cerebroarterial App Related Associate 28557134
Aneurysm Associate 23825360, 34185228
Aortic Aneurysm Associate 23291965
Aortic Aneurysm Thoracic Associate 20829218, 23825360, 27394642
Arteriosclerosis Associate 16556868