Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4087
Gene name Gene Name - the full gene name approved by the HGNC.
SMAD family member 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SMAD2
Synonyms (NCBI Gene) Gene synonyms aliases
CHTD8, JV18, JV18-1, LDS6, MADH2, MADR2, hMAD-2, hSMAD2
Chromosome Chromosome number
18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
18q21.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
miRTarBase ID miRNA Experiments Reference
MIRT005872 hsa-miR-155-5p Luciferase reporter assay, qRT-PCR, Western blot 21036908
MIRT005872 hsa-miR-155-5p Luciferase reporter assay, qRT-PCR, Western blot 21036908
MIRT005872 hsa-miR-155-5p Luciferase reporter assay, qRT-PCR, Western blot 21036908
MIRT005872 hsa-miR-155-5p Luciferase reporter assay, qRT-PCR, Western blot 21036908
MIRT007290 hsa-miR-200a-3p Luciferase reporter assay 22020340
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601366 6768 ENSG00000175387
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Congenital heart defects Congenital heart defects, multiple types, 8, with or without heterotaxy rs397509416, rs367537998, rs797044882, rs1064793873 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma N/A N/A GWAS
Congenital Heart Disease congenital heart disease N/A N/A GenCC
Loeys-Dietz Syndrome Loeys-Dietz syndrome 6 N/A N/A GenCC
Prostate cancer Prostate cancer N/A N/A GWAS
Associations from Text Mining Disease 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