• Gene id: 4093

Gene Summary

• Gene Symbol: SMAD9   Gene   UCSC   Ensembl
• Aliases: MADH6, MADH9, PPH2, SMAD8, SMAD8/9, SMAD8A, SMAD8B
• Gene name: SMAD family member 9
• Alternate names: mothers against decapentaplegic homolog 9, MAD homolog 9, Mothers against decapentaplegic, drosophila, homolog of, 9, SMAD, mothers against DPP homolog 9,
• Gene location: 13q13.3 (36920720: 36844830)     Exons: 10     NC_000013.11
• Gene summary(Entrez): 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

Protein Summary

• Protein general information: O15198  
  • Name: Mothers against decapentaplegic homolog 9 (MAD homolog 9) (Mothers against DPP homolog 9) (Madh6) (SMAD family member 9) (SMAD 9) (Smad9)
  • Length: 467  
  • Mass: 52493
  • 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:

  MHSTTPISSLFSFTSPAVKRLLGWKQGDEEEKWAEKAVDSLVKKLKKKKGAMDELERALSCPGQPSKCVTIPRSL
  DGRLQVSHRKGLPHVIYCRVWRWPDLQSHHELKPLECCEFPFGSKQKEVCINPYHYRRVETPVLPPVLVPRHSEY
  NPQLSLLAKFRSASLHSEPLMPHNATYPDSFQQPPCSALPPSPSHAFSQSPCTASYPHSPGSPSEPESPYQHSVD
  TPPLPYHATEASETQSGQPVDATADRHVVLSIPNGDFRPVCYEEPQHWCSVAYYELNNRVGETFQASSRSVLIDG
  FTDPSNNRNRFCLGLLSNVNRNSTIENTRRHIGKGVHLYYVGGEVYAECVSDSSIFVQSRNCNYQHGFHPATVCK
  IPSGCSLKVFNNQLFAQLLAQSVHHGFEVVYELTKMCTIRMSFVKGWGAEYHRQDVTSTPCWIEIHLHGPLQWLD
  KVLTQMGSPHNPISSVS

• Structural information:
  • Protein Domains: (16..14-)
    (/note="MH1-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00438-)
    (273..46-)
    (/note="MH2-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00439"-)
  • Interpro: IPR013790  IPR003619  IPR013019  IPR017855  IPR001132   IPR008984  IPR036578  
  • Prosite: PS51075 PS51076
  • PDB: 6FZT
  • PDBsum: 6FZT
  • STRING: ENSP00000369154
• Other Databases: GeneCards:  SMAD9  Malacards:  SMAD9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0007179	transforming growth factor beta receptor signaling pathway	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0030509	BMP signaling pathway	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0060395	SMAD protein signal transduction	NAS	biological process
GO:0071773	cellular response to BMP stimulus	NAS	biological process
GO:1901522	positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus	TAS	biological process
GO:0071141	SMAD protein complex	NAS	cellular component
GO:0060395	SMAD protein signal transduction	ISS	biological process
GO:0030509	BMP signaling pathway	ISS	biological process
GO:0005634	nucleus	ISS	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	TAS	molecular function
GO:0005634	nucleus	TAS	cellular component
GO:0030509	BMP signaling pathway	TAS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04550	Signaling pathways regulating pluripotency of stem cells
hsa04350	TGF-beta signaling pathway

Diseases

Associated diseases	References
Pulmonary arterial hypertension	KEGG:H01621
Pulmonary arterial hypertension	KEGG:H01621
Prostate cancer	PMID:15042598
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray