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
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CHTD8, LDS6
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:0000122 Process Negative regulation of transcription by RNA polymerase II TAS
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 21873635
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA 9389648, 31582430
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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Loeys-Dietz Syndrome Loeys-Dietz syndrome 6 GenCC
Congenital heart defects congenital heart defects, multiple types, 8, with or without heterotaxy GenCC
Thoracic Aortic Aneurysm And Aortic Dissection familial thoracic aortic aneurysm and aortic dissection GenCC
Congenital Heart Disease congenital heart disease GenCC
Associations from Text Mining
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