SMAD9
entrez
4093
canonical
uniprot
O15198
canonical
ensembl
ENSG00000120693
resolver
ensp
ENSP00000239885
resolver
ensp
ENSP00000369154
resolver
ensp
ENSP00000541633
resolver
ensp
ENSP00000541635
resolver
ensp
ENSP00000541636
resolver
ensp
ENSP00000541642
resolver
ensp
ENSP00000632476
resolver
ensp
ENSP00000632479
resolver
genesymbol
SMAD9
resolver
genesymbol_syn
MADH6
resolver
genesymbol_syn
MADH9
resolver
genesymbol_syn
SMAD8
resolver
hgnc
HGNC:6774
resolver
uniprot
A2A2Y6
resolver
uniprot
O14989
resolver
uniprot
Q5TBA1
resolver
uniprot_entry
SMAD9_HUMAN
resolver
uniprot_sec
A2A2Y6
resolver
uniprot_sec
O14989
resolver
uniprot_sec
Q5TBA1
resolver
amino_acid_sequence
MHSTTPISSLFSFTSPAVKRLLGWKQGDEEEKWAEKAVDSLVKKLKKKKGAMDELERALSCPGQPSKCVTIPRSLDGRLQVSHRKGLPHVIYCRVWRWPDLQSHHELKPLECCEFPFGSKQKEVCINPYHYRRVETPVLPPVLVPRHSEYNPQLSLLAKFRSASLHSEPLMPHNATYPDSFQQPPCSALPPSPSHAFSQSPCTASYPHSPGSPSEPESPYQHSVDTPPLPYHATEASETQSGQPVDATADRHVVLSIPNGDFRPVCYEEPQHWCSVAYYELNNRVGETFQASSRSVLIDGFTDPSNNRNRFCLGLLSNVNRNSTIENTRRHIGKGVHLYYVGGEVYAECVSDSSIFVQSRNCNYQHGFHPATVCKIPSGCSLKVFNNQLFAQLLAQSVHHGFEVVYELTKMCTIRMSFVKGWGAEYHRQDVTSTPCWIEIHLHGPLQWLDKVLTQMGSPHNPISSVS
uniprot
proteins
disease_involvement
DISEASE: Pulmonary hypertension, primary, 2 (PPH2) [MIM:615342]: 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 pulmonary hypertension is rare, cases secondary to known etiologies are more common and include those associated with the appetite-suppressant drugs. {ECO:0000269|PubMed:21898662}. Note=The disease may be caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Transcriptional modulator activated by BMP (bone morphogenetic proteins) type 1 receptor kinase. SMAD9 is a receptor-regulated SMAD (R-SMAD).
uniprot
proteins
mass_dalton
52493
uniprot
proteins
post_translational_modification
PTM: Phosphorylated on serine by BMP (bone morphogenetic proteins) type 1 receptor kinase.
uniprot
proteins
protein_family
Dwarfin/SMAD family
uniprot
proteins
pubmed
10647776
uniprot
proteins
pubmed
10708948
uniprot
proteins
pubmed
10708949
uniprot
proteins
pubmed
15057823
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
21898662
uniprot
proteins
pubmed
25755279
uniprot
proteins
pubmed
9205116
uniprot
proteins
pubmed
9759503
uniprot
proteins
sequence_length
467
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cytoplasm {ECO:0000250}. Nucleus {ECO:0000250}. Note=In the cytoplasm in the absence of ligand. Migration to the nucleus when complexed with SMAD4 (By similarity). {ECO:0000250}.
uniprot
proteins