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SMAD4 (SMAD family member 4)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4089
Gene nameGene Name - the full gene name approved by the HGNC.
SMAD family member 4
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
SMAD4
SynonymsGene synonyms aliases
DPC4, JIP, MADH4, MYHRS
ChromosomeChromosome number
18
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
18q21.2
SummarySummary 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
SNPsSNP 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
miRNAmiRNA 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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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

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