Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4089
Gene name Gene Name - the full gene name approved by the HGNC.
SMAD family member 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
SMAD4
Synonyms (NCBI Gene) Gene synonyms aliases
DPC4, JIP, MADH4, MYHRS
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MYHRS
Chromosome Chromosome number
18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
18q21.2
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the Smad family of signal transduction proteins. Smad proteins are phosphorylated and activated by transmembrane serine-threonine receptor kinases in response to transforming growth factor (TGF)-beta signaling. The product of
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs7238500 A>G Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance Missense variant, coding sequence variant
rs80338963 C>A,G,T Not-provided, pathogenic, likely-pathogenic Coding sequence variant, missense variant
rs80338964 C>T Pathogenic Stop gained, coding sequence variant
rs80338965 CAGA>- Pathogenic Coding sequence variant, frameshift variant
rs121912576 G>T Pathogenic Stop gained, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT004736 hsa-miR-18a-5p Immunoblot, Luciferase reporter assay, Microarray, qRT-PCR, Western blot 20940405
MIRT004118 hsa-miR-483-3p Luciferase reporter assay, qRT-PCR, Western blot 21112326
MIRT004118 hsa-miR-483-3p Luciferase reporter assay, qRT-PCR, Western blot 21112326
MIRT004118 hsa-miR-483-3p Luciferase reporter assay, qRT-PCR, Western blot 21112326
MIRT004118 hsa-miR-483-3p Luciferase reporter assay, qRT-PCR, Western blot 21112326
Transcription factors
Transcription factor Regulation Reference
FOS Unknown 11854297
GLI1 Unknown 24739390
HDAC4 Unknown 23817620
JUNB Unknown 11854297
KAT2B Activation 19525977
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 ISS
GO:0000122 Process Negative regulation of transcription by RNA polymerase II TAS
GO:0000785 Component Chromatin IDA 21828274
GO:0000785 Component Chromatin ISA
GO:0000976 Function Transcription regulatory region sequence-specific DNA binding IDA 17438144
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600993 6770 ENSG00000141646
Protein
UniProt ID Q13485
Protein name Mothers against decapentaplegic homolog 4 (MAD homolog 4) (Mothers against DPP homolog 4) (Deletion target in pancreatic carcinoma 4) (SMAD family member 4) (SMAD 4) (Smad4) (hSMAD4)
Protein function In muscle physiology, plays a central role in the balance between atrophy and hypertrophy. When recruited by MSTN, promotes atrophy response via phosphorylated SMAD2/4. MSTN decrease causes SMAD4 release and subsequent recruitment by the BMP pat
PDB 1DD1 , 1G88 , 1MR1 , 1U7F , 1U7V , 1YGS , 5C4V , 5MEY , 5MEZ , 5MF0 , 5UWU , 6YIC
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03165 MH1 36 137 MH1 domain Domain
PF03166 MH2 321 530 MH2 domain Family
Sequence
MDNMSITNTPTSNDACLSIVHSLMCHRQGGESETFAKRAIESLVKKLKEKKDELDSLITA
ITTNGAHPSKCVTIQRTLDGRLQVAGRKGFPHVIYARLWRWPDLHKNELKHVKYCQYAFD
LKCDSVCVNPYHYERVV
SPGIDLSGLTLQSNAPSSMMVKDEYVHDFEGQPSLSTEGHSIQ
TIQHPPSNRASTETYSTPALLAPSESNATSTANFPNIPVASTSQPASILGGSHSEGLLQI
ASGPQPGQQQNGFTGQPATYHHNSTTTWTGSRTAPYTPNLPHHQNGHLQHHPPMPPHPGH
YWPVHNELAFQPPISNHPAPEYWCSIAYFEMDVQVGETFKVPSSCPIVTVDGYVDPSGGD
RFCLGQLSNVHRTEAIERARLHIGKGVQLECKGEGDVWVRCLSDHAVFVQSYYLDREAGR
APGDAVHKIYPSAYIKVFDLRQCHRQMQQQAATAQAAAAAQAAAVAGNIPGPGSVGGIAP
AISLSAAAGIGVDDLRRLCILRMSFVKGWGPDYPRQSIKETPCWIEIHLH
RALQLLDEVL
HTMPIADPQPLD
Sequence length 552
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Hereditary Hemorrhagic Telangiectasia juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome GenCC
Polyposis Syndrome juvenile polyposis syndrome GenCC
Pulmonary arterial hypertension pulmonary arterial hypertension GenCC
Eczema Eczema GWAS
Associations from Text Mining
Disease Name Relationship Type References
Adenocarcinoma Inhibit 16368780, 21305538
Adenocarcinoma Associate 17264880, 18985820, 19584151, 20682711, 23525077, 24639398, 24952744, 25634752, 26317919, 26336083, 26536055, 26998897, 28376920, 29522538, 30355311
View all (9 more)
Adenocarcinoma in Situ Inhibit 10980115
Adenocarcinoma Mucinous Associate 29698701, 30730996, 32641744
Adenocarcinoma of Lung Associate 25890228, 26066407, 28299977, 30413663
Adenoma Associate 10389996, 18008360, 20307265, 31248021, 36049049
Adenomatous Polyposis Coli Associate 23239472, 24312718, 35128723, 36049049, 37816352, 37889976, 9545410
Adrenal Insufficiency Associate 24424121
Aggressive Periodontitis Associate 25390638, 37695357
Alcohol Related Disorders Associate 24424121