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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
35
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Congenital heart defects, multiple types, 8, with or without heterotaxy Pathogenic rs1402819968, rs367537998, rs797044882, rs2511349735, rs1064793873, rs397509416 RCV001789799
RCV002292376
RCV001789764
RCV004560530
RCV001789776
View all (1 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Loeys-Dietz syndrome 1 Likely pathogenic rs2511351266 RCV002288454
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Loeys-Dietz syndrome 6 Pathogenic; Likely pathogenic rs2144276285, rs2144373131, rs2144300077, rs745853643, rs2511326359 RCV001789796
RCV001789800
RCV002249173
RCV002305874
RCV002471528
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SMAD2-related cardiac disorders Pathogenic rs367537999 RCV003335853
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL CONTRACTURAL ARACHNODACTYLY CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DISEASE ClinGen, Disgenet, Orphanet
ClinGen, Disgenet, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acromicric Dysplasia Acromicric Dysplasia CTD_human_DG 18677313
★☆☆☆☆
Found in Text Mining only
Acromicric dysplasia Acromesomelic dysplasia Pubtator 18677313 Associate
★☆☆☆☆
Found in Text Mining only
Acute pancreatitis Pancreatitis BEFREE 28099259
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 11572763, 14647445
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 29490279, 30031128, 30365047, 30988629
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of rectum Adenocarcinoma Of Rectum BEFREE 30637920
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 24334458
★☆☆☆☆
Found in Text Mining only
Allergic rhinitis (disorder) Allergic rhinitis BEFREE 20495338
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia BEFREE 26318657
★☆☆☆☆
Found in Text Mining only
Anemia, Sickle Cell Anemia BEFREE 20460105
★☆☆☆☆
Found in Text Mining only