Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4093
Gene name Gene Name - the full gene name approved by the HGNC.
SMAD family member 9
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SMAD9
Synonyms (NCBI Gene) Gene synonyms aliases
MADH6, MADH9, PPH2, SMAD8, SMAD8/9, SMAD8A, SMAD8B
Chromosome Chromosome number
13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q13.3
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene is a member of the SMAD family, which transduces signals from TGF-beta family members. The encoded protein is activated by bone morphogenetic proteins and interacts with SMAD4. Two transcript variants encoding different is
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs78249575 C>T Likely-benign, conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs121918359 G>A,T Pathogenic Intron variant, stop gained, synonymous variant, coding sequence variant
rs146583835 G>A,T Likely-pathogenic Stop gained, coding sequence variant, synonymous variant
rs397514715 T>C Pathogenic Coding sequence variant, missense variant
rs397514716 G>A Pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT020446 hsa-miR-106b-5p Microarray 17242205
MIRT053445 hsa-miR-203a-3p Microarray 23807165
MIRT550327 hsa-miR-1277-5p HITS-CLIP 21572407
MIRT550326 hsa-miR-5011-5p HITS-CLIP 21572407
MIRT550325 hsa-miR-511-3p HITS-CLIP 21572407
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 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 TAS 25534700
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific IBA
GO:0000981 Function DNA-binding transcription factor activity, RNA polymerase II-specific ISA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603295 6774 ENSG00000120693
Protein
UniProt ID O15198
Protein name Mothers against decapentaplegic homolog 9 (MAD homolog 9) (Mothers against DPP homolog 9) (Madh6) (SMAD family member 9) (SMAD 9) (Smad9)
Protein function Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD9 is a receptor-regulated SMAD (R-SMAD).
PDB 6FZT
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03165 MH1 34 135 MH1 domain Domain
PF03166 MH2 271 443 MH2 domain Family
Tissue specificity TISSUE SPECIFICITY: Expressed in heart, brain, placenta, lung, skeletal muscle, prostate, testis, ovary and small intestine. Also expressed in fetal brain, lung and kidney.
Sequence
MHSTTPISSLFSFTSPAVKRLLGWKQGDEEEKWAEKAVDSLVKKLKKKKGAMDELERALS
CPGQPSKCVTIPRSLDGRLQVSHRKGLPHVIYCRVWRWPDLQSHHELKPLECCEFPFGSK
QKEVCINPYHYRRVE
TPVLPPVLVPRHSEYNPQLSLLAKFRSASLHSEPLMPHNATYPDS
FQQPPCSALPPSPSHAFSQSPCTASYPHSPGSPSEPESPYQHSVDTPPLPYHATEASETQ
SGQPVDATADRHVVLSIPNGDFRPVCYEEPQHWCSVAYYELNNRVGETFQASSRSVLIDG
FTDPSNNRNRFCLGLLSNVNRNSTIENTRRHIGKGVHLYYVGGEVYAECVSDSSIFVQSR
NCNYQHGFHPATVCKIPSGCSLKVFNNQLFAQLLAQSVHHGFEVVYELTKMCTIRMSFVK
GWGAEYHRQDVTSTPCWIEIHLH
GPLQWLDKVLTQMGSPHNPISSVS
Sequence length 467
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Hormone signaling
TGF-beta signaling pathway
Signaling pathways regulating pluripotency of stem cells
  Signaling by BMP
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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
Pulmonary Arterial Hypertension Associated With Congenital Heart Disease pulmonary arterial hypertension associated with congenital heart disease rs146583835 N/A
Pulmonary Hypertension pulmonary hypertension, primary, 2 rs121918359, rs397514716, rs770716081 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
Colorectal Cancer Colorectal cancer N/A N/A GWAS
Coronary artery disease Coronary artery disease N/A N/A GWAS
Heritable Pulmonary Arterial Hypertension heritable pulmonary arterial hypertension N/A N/A GenCC
Myocardial Infarction Myocardial infarction N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 33648465
Adenoma Associate 18008360
Alzheimer Disease Associate 36764297
Arteriovenous Malformations Inhibit 36198763
Autistic Disorder Associate 12826745
Breast Neoplasms Associate 39940786
Carcinoma Non Small Cell Lung Inhibit 32150102
Carcinoma Ovarian Epithelial Associate 34110955
Chondrosarcoma Associate 23088614
Colorectal Neoplasms Associate 31545230, 37373155