Seroatlas · Human Serome Atlas

SMAD9

Mothers against decapentaplegic homolog 9

Also known as: MADH6, MADH9, SMAD8, SMAD8/9, SMAD9_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: O15198
Gene: SMAD9
Ensembl: ENSG00000120693
Chromosome: 13
Canonical length: 467 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
Subcellular location: Nucleoplasm,Cytosol

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

467 residues, UniProt reviewed canonical sequence.

>O15198|SMAD9
     1  MHSTTPISSL FSFTSPAVKR LLGWKQGDEE EKWAEKAVDS LVKKLKKKKG AMDELERALS
    61  CPGQPSKCVT IPRSLDGRLQ VSHRKGLPHV IYCRVWRWPD LQSHHELKPL ECCEFPFGSK
   121  QKEVCINPYH YRRVETPVLP PVLVPRHSEY NPQLSLLAKF RSASLHSEPL MPHNATYPDS
   181  FQQPPCSALP PSPSHAFSQS PCTASYPHSP GSPSEPESPY QHSVDTPPLP YHATEASETQ
   241  SGQPVDATAD RHVVLSIPNG DFRPVCYEEP QHWCSVAYYE LNNRVGETFQ ASSRSVLIDG
   301  FTDPSNNRNR FCLGLLSNVN RNSTIENTRR HIGKGVHLYY VGGEVYAECV SDSSIFVQSR
   361  NCNYQHGFHP ATVCKIPSGC SLKVFNNQLF AQLLAQSVHH GFEVVYELTK MCTIRMSFVK
   421  GWGAEYHRQD VTSTPCWIEI HLHGPLQWLD KVLTQMGSPH NPISSVS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SMAD9 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.37
Highest tissue expression: 36 nTPM

Expression across tissuesHPA

Tissue

thyroid gland: 36 nTPM
salivary gland: 20 nTPM
blood vessel: 19 nTPM
spinal cord: 14 nTPM
prostate: 13 nTPM
seminal vesicle: 11 nTPM

Single-cell type

thymic myoid cells: 271 nCPM
bergmann glia: 207 nCPM
pituitary stem cells: 197 nCPM
endometrial glandular cells: 146 nCPM
thyrotrophs: 135 nCPM
vascular endothelial cells: 94 nCPM

Immune cell

plasmacytoid DC: 0.2 nTPM
basophil: 0.1 nTPM
gdT-cell: 0.1 nTPM
MAIT T-cell: 0.1 nTPM
memory B-cell: 0.1 nTPM
memory CD4 T-cell: 0.1 nTPM

Brain region

white matter: 51 nTPM
medulla oblongata: 44 nTPM
hypothalamus: 43 nTPM
spinal cord: 41 nTPM
pons: 39 nTPM
midbrain: 31 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SMAD9.

Disease | AllUniProt

Conditions SMAD9 is implicated in, by any mechanism.

Pulmonary hypertension, primary, 2 (PPH2) MIM:615342

Disease | GeneticClinVar

28 pathogenic / likely-pathogenic of 284 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Pulmonary hypertension, primary, 2
Pulmonary arterial hypertension associated with congenital heart disease

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.85
gnomAD pLI: 0
gnomAD missense Z: 0.52
DepMap mean gene effect: -0.02
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of SMAD9 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads SMAD9 as an antibody target. Whether an autoantibody or antibody against SMAD9 could matter depends on whether native SMAD9 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

SMAD9 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label SMAD9 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...