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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

SMAD9 Gene

protein-coding GIFtS: 63
GCID: GC13M037418

SMAD family member 9

(Previous names: MAD, mothers against decapentaplegic homolog 9 (Drosophila),...)
(Previous symbols: MADH6, MADH9)

Explore 8 diseases affiliated with
SMAD9 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
SMAD Family Member 9¹ ² ³		SMAD8B²
MADH6¹ ² ³ ⁵		Mothers Against Decapentaplegic Homolog 9²
MADH9¹ ² ³ ⁵		Mothers Against Decapentaplegic, Drosophila, Homolog Of, 9²
MAD Homolog 9² ³		SMAD, Mothers Against DPP Homolog 9²
MAD, Mothers Against Decapentaplegic Homolog 9 (Drosophila)¹		Madh6³
SMAD, Mothers Against DPP Homolog 9 (Drosophila)¹		Smad9³
SMAD8²		Mothers Against DPP Homolog 9³
SMAD8A²		SMAD 9³

External Ids:	HGNC: 6774¹	Entrez Gene: 4093²	Ensembl: ENSG00000120693⁷	OMIM: 603295⁵	UniProtKB: O15198³

Export aliases for SMAD9 gene to outside databases

Previous GC identifers: GC13M035221 GC13M036320 GC13M018230

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for SMAD9:

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 isoforms have been found for this gene.(provided by RefSeq, Jan 2010)

UniProtKB/Swiss-Prot: SMAD9_HUMAN, O15198

Function: Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD9 is a

receptor-regulated SMAD (R-SMAD)

Gene Wiki entry for SMAD9 (Mothers against decapentaplegic homolog 9)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000013.10 NC_018924.1 NT_024524.14

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the SMAD9 gene promoter:
HFH-3 AML1a Lmo2 YY1 FOXI1 SRY GATA-6 FOXO1a FOXO1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: SMAD9 promoter sequence

Search SABiosciences Chromatin IP Primers for SMAD9

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SMAD9

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 13q12-q14 Ensembl cytogenetic band: 13q13.3 HGNC cytogenetic band: 13q12-q14

SMAD9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SMAD9 gene location

GeneLoc information about chromosome 13 GeneLoc Exon Structure

GeneLoc location for GC13M037418: view genomic region (about GC identifiers)

Start:	37,418,968 bp from pter	End:	37,494,902 bp from pter
Size:	75,935 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: SMAD9_HUMAN, O15198 (See protein sequence)

Recommended Name: Mothers against decapentaplegic homolog 9

Size: 467 amino acids; 52493 Da

Subunit: Interaction with the co-SMAD SMAD4. Interacts with PEBP2-alpha subunit

Subcellular location: Cytoplasm (By similarity). Nucleus (By similarity). Note=In the cytoplasm in the absence of

ligand. Migration to the nucleus when complexed with SMAD4 (By similarity)

Secondary accessions: A2A2Y6 O14989 Q5TBA1

Alternative splicing: 2 isoforms: O15198-1 O15198-2

Explore the universe of human proteins at neXtProt for SMAD9: NX_O15198

Post-translational modifications:

Phosphorylated on serine by BMP (bone morphogenetic proteins) type 1 receptor kinase¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O15198

SMAD9 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001120689.1 NP_005896.1

ENSEMBL proteins:

ENSP00000382216 ENSP00000239885 ENSP00000369154

Reactome Protein details: O15198
Human Recombinant Protein Products for SMAD9:

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	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for SMAD9

Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	TAS	9256479
GO:0005634	nucleus	TAS	19018011
GO:0005654	nucleoplasm	TAS	--
GO:0005667	transcription factor complex	IEA	--
GO:0005737	cytoplasm	--	--

SMAD9 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for SMAD9

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

SMAD9 for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR013019 MAD_homology_MH1

IPR008984 SMAD_FHA_domain

IPR001132 SMAD_dom_Dwarfin-type

IPR017855 SMAD_dom-like

IPR013790 Dwarfin

Graphical View of Domain Structure for InterPro Entry O15198

ProtoNet protein and cluster: O15198

1 Blocks protein family: IPB001132 Dwarfin protein

UniProtKB/Swiss-Prot: SMAD9_HUMAN, O15198

Similarity: Belongs to the dwarfin/SMAD family

Similarity: Contains 1 MH1 (MAD homology 1) domain

Similarity: Contains 1 MH2 (MAD homology 2) domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: SMAD9_HUMAN, O15198

Function: Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD9 is a

receptor-regulated SMAD (R-SMAD)

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	IEA	--
GO:0003700	sequence-specific DNA binding transcription factor activity	IEA	--
GO:0005515	protein binding	--	--
GO:0030618	transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity	TAS	19018011
GO:0046872	metal ion binding	IEA	--

SMAD9 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for SMAD9:

Increased S DNA content, incre

12 MGI mutant phenotypes (inferred from 7 alleles) (MGI details for Smad9):

cardiovascular system	craniofacial	embryogenesis	growth/size	immune system
mortality/aging	nervous system	no phenotypic analysis	normal	reproductive system
respiratory system	tumorigenesis

SMAD9 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-outs for SMAD9: Smad9^tm1Jfm Smad9^tm2.1Rob Smad9^tm1.1Mwst

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for SMAD9

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		8/24 QIAGEN miScript miRNA Assays for microRNAs that regulate SMAD9 (see all 24):
		hsa-miR-498 hsa-miR-495 hsa-miR-520f hsa-miR-892b hsa-miR-128 hsa-miR-512-3p hsa-miR-144 hsa-miR-3908

		SwitchGear 3'UTR luciferase reporter plasmid: SMAD9 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMAD9

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Ubiquitin-dependent degradation of the Smad complex terminates BMP2 signalling

	Ubiquitin-dependent degradation of the Smad complex terminates BMP2 signalling	1.00			ALK2 signaling events	0.31
	Ubiquitin-dependent degradation controls basal levels of R-Smad1/5/8	0.38

Signaling by BMP

Signaling by BMP

1.00

BMP receptor signaling

0.31

TGF-beta/Smad Signaling

TGF-beta/Smad Signaling

1.00

TGF Beta Signaling Pathway

TGF Beta Signaling Pathway

1.00

Th17 Differentiation

Th17 Differentiation

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 R&D Systems Pathways for SMAD9

	Th17 Differentiation
	TGF-beta Signaling Pathways

1 Cell Signaling Technology (CST) Pathway for SMAD9

TGF-beta/Smad Signaling

4 BioSystems Pathways for SMAD9

	TGF Beta Signaling Pathway
	ALK2 signaling events
	BMP receptor signaling
	ALK1 signaling events

4 Reactome Pathways for SMAD9

	Ubiquitin-dependent degradation controls basal levels of R-Smad1/5/8
	Ubiquitin-dependent degradation of the Smad complex terminates BMP2 signalling
	Signal Transduction
	Signaling by BMP

1 Kegg Pathway (Kegg details for SMAD9):

TGF-beta signaling pathway

SMAD9 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for SMAD9

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/191 Interacting proteins for SMAD9 (O15198^{2, 3} ENSP00000369154⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 191)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
LMO4	P61968²^,³, ENSP00000359573⁴	MINT-61932 MINT-62061 I2D: score=4 STRING: ENSP00000359573
SNRNP70	P08621²^,³, ENSP00000221448⁴	MINT-62151 MINT-61940 I2D: score=4 STRING: ENSP00000221448
ZEB2	O60315²^,³, ENSP00000302501⁴	MINT-61938 MINT-62073 I2D: score=4 STRING: ENSP00000302501
CSH1	P01243²^,³, ENSP00000333268⁴	MINT-62064 I2D: score=2 STRING: ENSP00000333268
CSH2	P01243²^,³, ENSP00000376623⁴	MINT-62064 I2D: score=2 STRING: ENSP00000376623

About this table

Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001657	ureteric bud development	IEA	--
GO:0001666	response to hypoxia	IEA	--
GO:0001880	Mullerian duct regression	IEA	--
GO:0006351	transcription, DNA-dependent	IEA	--
GO:0006468	protein phosphorylation	IEA	--

SMAD9 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for SMAD9
Search CenterWatch for drugs/clinical trials and news about SMAD9

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for SMAD9 gene (2 alternative transcripts):

NM_001127217.2 NM_005905.5

Unigene Cluster for SMAD9:

SMAD family member 9

Hs.123119 [show with all ESTs]

Unigene Representative Sequence: NM_001127217

4 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000399275 ENST00000350148(uc010tep.2) ENST00000483941 ENST00000379826(uc001uvw.3 uc001uvx.3)

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		hsa-miR-498 hsa-miR-495 hsa-miR-520f hsa-miR-892b hsa-miR-128 hsa-miR-512-3p hsa-miR-144 hsa-miR-3908

		SwitchGear 3'UTR luciferase reporter plasmid: SMAD9 3' UTR sequence

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Additional cDNA sequence:

AK095147.1 AK311686.1 AK314920.1 BC011559.1 BC067766.1 BC104760.1 BC104762.1 BC143240.1

BC143256.1 D83760.1 D83761.1

3 DOTS entries:

DT.205683 DT.100740782 DT.95368602

24/77 AceView cDNA sequences (see all 77):

W95374 BE252922 D83760 AI619431 BU688850 NM_005905 AU117590 BG388323

BX117187 BC011559 CA776703 D83761 AI142572 CA502976 CA776471 BM739654

BU684716 BU684555 BM747886 BX506816 Z40593 CD677698 BG390380 BX095366

GeneLoc Exon Structure

2 Alternative Splicing Database (ASD) splice patterns (SP) for SMAD9 About this scheme

ExUns:	1	^	2a	·	2b	^	3	^	4	^	5	^	6	^	7a	·	7b
SP1:									-
SP2:

ECgene alternative splicing isoforms for SMAD9

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

SMAD9 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTGTGTGGCC

About this image

SMAD9 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Spinal Cord

Preganglionic Column

Preganglionic Motor Neurons

Selective marker (cell-identifying gene)

Motor Neurons

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

Endoderm progenitor-like cells (Generation and expan...)

Primitive gut tube-like cells (A scalable, suspensi...)

See SMAD9 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for SMAD9

SOURCE GeneReport for Unigene cluster: Hs.123119

UniProtKB/Swiss-Prot: SMAD9_HUMAN, O15198

Tissue specificity: Expressed in heart, brain, placenta, lung, skeletal muscle, prostate, testis, ovary and small

intestine. Also expressed in fetal brain, lung and kidney

SABiosciences Expression via Pathway-Focused PCR Arrays including SMAD9:

Stem Cell Signaling in human mouse rat

Transcription Factors in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SMAD9

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for SMAD9 gene from 6/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	SMAD9¹	SMAD family member 9	81.08(n) 90.58(a)		395543 NM_001024826.1 NP_001019997.1
lizard (Anolis carolinensis)	Reptilia	SMAD9⁶	--	71(a)	1 ↔ 1	3(181430888-181447105)
African clawed frog (Xenopus laevis)	Amphibia	MGC69016²	hypothetical protein MGC69016	79.15(n)		BC057741.1
zebrafish (Danio rerio)	Actinopterygii	smad9¹	MAD homolog 9 (Drosophila)	74.96(n) 83.26(a)		445564 NM_001004014.1 NP_001004014.1
fruit fly (Drosophila melanogaster)	Insecta	Mad⁶	Mothers against dpp	62(a)	1 → many	2L(3146056-3159643)
worm (Caenorhabditis elegans)	Secernentea	sma-2¹	Protein SMA-2	56.7(n) 59.8(a)		176229 NM_066530.3 NP_498931.2

ENSEMBL Gene Tree for SMAD9 (if available)
TreeFam Gene Tree for SMAD9 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for SMAD9 gene

SMAD2² SMAD3² SMAD1² SMAD5² SMAD6² SMAD4² SMAD7²

7 SIMAP similar genes for SMAD9 using alignment to 1 protein entry: SMAD9_HUMAN:

SMAD1 SMAD5 DKFZp781O1323 MADH5 DKFZp586M0622 SMAD3

SMAD2

SMAD9 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 13 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs35652793^1,2	C	--	37418492(+)	`TAGGT-/AATAGA`	2	--	ds500¹		3		NA CSA	6
rs111805513^1,2	C	--	37418633(+)	`CTTTCT/CAATAG`	2	--	ds500¹		2		NA	122
rs191427741^1,2		--	37418681(+)	`AAGTGC/TTCATT`	2	--	ds500¹		0	--	--	--	--
rs116206834^1,2		--	37418710(+)	`TATCAC/TGTATT`	2	--	ds500¹		1		WA	118
rs181252755^1,2		--	37418856(+)	`GAATTC/TAACAT`	2	--	ds500¹		0	--	--	--	--
rs185360521^1,2		--	37419010(+)	`ACAGTA/GTAAGT`	2	--	ut3¹		0	--	--	--	--
rs190024052^1,2		--	37419030(+)	`ATGGAA/TAACCG`	2	--	ut3¹		0	--	--	--	--
rs111717162^1,2	C	--	37419035(+)	`TAACCT/GAAGCC`	2	--	ut3¹		2		NA CSA	3
rs60270973^1,2	C	--	37419043(+)	`GCCAAGTT/-ATTAT`	2	--	ut3¹		1		CSA	2
rs201077965^1,2		--	37419054(+)	`ATAAT-/AGAA AGCAT`	2	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for SMAD9 (37418968 - 37494902 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for SMAD9
1 CNV: 35162
Human Gene Mutation Database (HGMD): SMAD9

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

SMAD9 for disorders           About GeneDecksing

OMIM gene information: 603295
OMIM disorders: 178600
UniProtKB/Swiss-Prot: SMAD9_HUMAN, O15198

Defects in SMAD9 may be a cause of primary pulmonary hypertension (PPH1) [MIM:178600]. A rare disorder

characterized by plexiform lesions of proliferating endothelial cells in pulmonary arterioles. The lesions lead to

elevated pulmonary arterial pression, right ventricular failure, and death. The disease can occur from infancy

throughout life and it has a mean age at onset of 36 years. Penetrance is reduced. Although familial PPH1 is rare,

cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs

8 diseases for SMAD9: About MalaCards

fibrodysplasia ossificans progressiva pulmonary hypertension primary pulmonary hypertension hypertension

hermaphroditism lung cancer hypoxia prostatitis

1 disease from the University of Copenhagen DISEASES database for SMAD9:

Fibrodysplasia ossificans progressiva

Human Genome Epidemiology (HuGE) Navigator: SMAD9 (2 documents)

Export disorders for SMAD9 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for SMAD9 gene, integrated from 9 sources (see all 35):
(articles sorted by number of sources associating them with SMAD9)

Utopia: connect your pdf to the dynamic
world of online information

Cloning and characterization of a novel member of the human Mad gene family (MADH6). (PubMed id 9205116)^{1, 2, 3} Watanabe T.K.... Takahashi E. (1997)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
TGF-beta signaling by Smad proteins. (PubMed id 10708949)^{1, 2} Miyazono K. (2000)
The Smad pathway. (PubMed id 10708948)^{1, 2} Wrana J.L. and Attisano L. (2000)
Remarkable versatility of Smad proteins in the nucleus of transforming growth factor-beta activated cells. (PubMed id 10647776)^{1, 2} Verschueren K. and Huylebroeck D. (1999)
TGF-beta signal transduction. (PubMed id 9759503)^{1, 2} Massague J. (1998)
Smad8B, a Smad8 splice variant lacking the SSXS site that inhibits Smad8-mediated signalling. (PubMed id 10583507)^{1, 9} Nishita M....Shibuya H. (1999)
CREBZF, a novel Smad8-binding protein. (PubMed id 22707059)¹ Lee J.H....Kim I.Y. (2012)
Functional dissection of lysine deacetylases reveals t hat HDAC1 and p300 regulate AMPK. (PubMed id 22318606)¹ Lin Y.Y....Boeke J.D. (2012)
Inhibition of mTORC1 kinase activates Smads 1 and 5 bu t not Smad8 in human prostate cancer cells, mediating cytostatic response to rap amycin. (PubMed id 22452883)¹ Wahdan-Alaswad R.S....Danielpour D. (2012)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 4093	HGNC: 6774	AceView: SMAD9	Ensembl:ENSG00000120693	euGenes: HUgn4093
ECgene: SMAD9	Kegg: 4093	H-InvDB: SMAD9

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for SMAD9	Pharmacogenomics, SNPs, Pathways

Intellectual Property for SMAD9 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for SMAD9 gene:
Search GeneIP for patents involving SMAD9

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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About This Section


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