Smad9 SMAD family member 9 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Smad9provided by MGI
Official Full Name: SMAD family member 9provided by MGI
Primary source: MGI:MGI:1859993
See related: Ensembl:ENSMUSG00000027796 AllianceGenome:MGI:1859993
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: MADH6; Madh8; Madh9; Smad8
Summary: This gene encodes a member of a family of proteins that act as downstream effectors of the bone morphogenetic protein (BMP) signaling pathway. The encoded protein is phosphorylated by BMP receptors, which stimulates its binding to SMAD4 and translocation into the nucleus, where it functions as a regulator of transcription. Activity of this protein is important for embryonic development. Mutation of this gene results in defects in pulmonary vasculature. [provided by RefSeq, Mar 2013]
Expression: Biased expression in adrenal adult (RPKM 6.9), cerebellum adult (RPKM 1.8) and 13 other tissues See more
Orthologs: human all
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Genomic context

Location:: 3 C; 3 25.62 cM

Exon count:: 8

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	3	NC_000069.7 (54662873..54709162)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	3	NC_000069.6 (54755455..54801662)

Chromosome 3 - NC_000069.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Smad8 Is Increased in Duchenne Muscular Dystrophy and Suppresses miR-1, miR-133a, and miR-133b.
Title: Smad8 Is Increased in Duchenne Muscular Dystrophy and Suppresses miR-1, miR-133a, and miR-133b.
ASB2 is a novel E3 ligase of SMAD9 required for cardiogenesis.
Title: ASB2 is a novel E3 ligase of SMAD9 required for cardiogenesis.
a pathogenic role for both iron loading and SMAD1/5/8 deficiency in liver injury and fibrosis.
Title: Ablation of Hepatocyte Smad1, Smad5, and Smad8 Causes Severe Tissue Iron Loading and Liver Fibrosis in Mice.
Sphingosine 1 phosphate also up-regulated runt-related transcription factor 2 (Runx2) expression through S1PR2/RhoA/ROCK/Smad1/5/8 signaling.
Title: Sphingosine-1-phosphate/S1PR2-mediated signaling triggers Smad1/5/8 phosphorylation and thereby induces Runx2 expression in osteoblasts.
Phosphorylated Smad1/5/8/9 specifically bound to the BREs of Smad8/9 gene. The present study reveals that Smad8/9 is a unique R-Smad regulated through the BMP pathway at the mRNA level.
Title: Smad8/9 Is Regulated Through the BMP Pathway.
BetA can enhance in vivo osteogenic potentials of BMP2, possibly via stimulating Smad 1/5/8 and p38 pathways, and combination of both agents can be considered as a therapeutic strategy for bone diseases.
Title: Betulinic acid synergically enhances BMP2-induced bone formation via stimulating Smad 1/5/8 and p38 pathways.
findings suggest that Smad9 is a new type of transcriptional regulator in BMP signaling.
Title: Smad9 is a new type of transcriptional regulator in bone morphogenetic protein signaling.
The findings demonstrate for the first time that KMUP-1 can promote osteoblast maturation and differentiation in vitro via BMP-2/Smad1/5/8 and Wnt/beta-catenin pathways.
Title: KMUP-1 Promotes Osteoblast Differentiation Through cAMP and cGMP Pathways and Signaling of BMP-2/Smad1/5/8 and Wnt/β-Catenin.
Data indicate that PDGF-AA promotes mesenchymal stem cel migration via bone morphogenetic protein 2 (BMP2)-smad proteins smad1/5/8 activation requires lysosome-mediated degradation of PDGF alpha Receptor (PDGFRalpha).
Title: PDGF-AA promotes osteogenic differentiation and migration of mesenchymal stem cell by down-regulating PDGFRα and derepressing BMP-Smad1/5/8 signaling.
our data suggest a pivotal role for canonical BMP signaling demonstrating distinguished nonoverlapping function of pSmad8 with pSmad1 and pSmad5 in hfSCs regulation and hair morphogenesis but a redundant role in adult hair progenitors differentiation.
Title: Smad1 and 5 but not Smad8 establish stem cell quiescence which is critical to transform the premature hair follicle during morphogenesis toward the postnatal state.

Submit: New GeneRIF Correction See all GeneRIFs (24)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (9) 1 citation
Endonuclease-mediated (1)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D3Mit135 (e-PCR), detects polymorphism
- UniSTS:129544

D3Mit135.1 (e-PCR), detects polymorphism
- UniSTS:129545

NoName (e-PCR)
- UniSTS:492866

Smad9 (e-PCR), detects polymorphism
- UniSTS:466575

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables I-SMAD binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in BMP signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within BMP signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within BMP signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in BMP signaling pathway	IGI Inferred from Genetic Interaction more info	PubMed
involved_in Mullerian duct regression	ISO Inferred from Sequence Orthology more info
involved_in SMAD protein signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in SMAD protein signal transduction	IGI Inferred from Genetic Interaction more info	PubMed
involved_in anatomical structure morphogenesis	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within bone development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within cartilage development	IGI Inferred from Genetic Interaction more info	PubMed
involved_in cell differentiation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cellular response to organic cyclic compound	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within hindbrain development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within midbrain development	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of cell differentiation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within protein phosphorylation	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in transforming growth factor beta receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in ureteric bud development	IEP Inferred from Expression Pattern more info	PubMed

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	ISO Inferred from Sequence Orthology more info
part_of heteromeric SMAD protein complex	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	ISO Inferred from Sequence Orthology more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of transcription regulator complex	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: mothers against decapentaplegic homolog 9

Names: MAD homolog 9; mothers against DPP homolog 9

NP_062356.3

EC 2.4.1.117

XP_006501791.1

EC 2.4.1.117

XP_036019060.1

EC 2.4.1.117

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_019483.5 → NP_062356.3 mothers against decapentaplegic homolog 9

See identical proteins and their annotated locations for NP_062356.3

Status: REVIEWED

Source sequence(s)

AK137411, CK636610

Consensus CDS

CCDS17354.1

UniProtKB/Swiss-Prot

Q8CFF9, Q9JIW5

UniProtKB/TrEMBL

Q0VER3, Q3UVC6

Related

ENSMUSP00000029371.3, ENSMUST00000029371.3

Conserved Domains (2) summary

cd10490
Location:13 → 136

MH1_SMAD_1_5_9; N-terminal Mad Homology 1 (MH1) domain in SMAD1, SMAD5 and SMAD9 (also known as SMAD8)

cl00056
Location:230 → 430

MH2; C-terminal Mad Homology 2 (MH2) domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000069.7 Reference GRCm39 C57BL/6J

Range

54662873..54709162

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006501728.4 → XP_006501791.1 mothers against decapentaplegic homolog 9 isoform X2

See identical proteins and their annotated locations for XP_006501791.1

UniProtKB/Swiss-Prot

Q8CFF9, Q9JIW5

UniProtKB/TrEMBL

Q0VER3, Q3UVC6

Conserved Domains (2) summary

cd10490
Location:13 → 136

MH1_SMAD_1_5_9; N-terminal Mad Homology 1 (MH1) domain in SMAD1, SMAD5 and SMAD9 (also known as SMAD8)

cl00056
Location:230 → 430

MH2; C-terminal Mad Homology 2 (MH2) domain
XM_036163167.1 → XP_036019060.1 mothers against decapentaplegic homolog 9 isoform X1

UniProtKB/TrEMBL

Q0VER3

Conserved Domains (2) summary

cd10490
Location:41 → 162

MH1_SMAD_1_5_9; N-terminal Mad Homology 1 (MH1) domain in SMAD1, SMAD5 and SMAD9 (also known as SMAD8)

cl00056
Location:256 → 456

MH2; C-terminal Mad Homology 2 (MH2) domain