Pulmonary Arterial Hypertension KnowledgeBase (PAHKB)
PAHKB
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

4093

Name

SMAD9

Synonym

MADH6|MADH9|SMAD8|SMAD8A|SMAD8B;SMAD family member 9;SMAD9;SMAD family member 9

Definition

MAD homolog 9|Mothers against decapentaplegic, drosophila, homolog of, 9|SMAD, mothers against DPP homolog 9|mothers against decapentaplegic homolog 9

Position

13q12-q14

Gene Type

protein-coding

PAH Type

Description

PAH

A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension.

PH

Dysregulated bone morphogenetic protein signaling in monocrotaline-induced pulmonary arterial hypertension.

PH

Defective pulmonary vascular remodeling in Smad8 mutant mice.

PH

Supplemental Table 1: A list of genes and functional categories that comprises a PHrelevant gene module (PH-module).
More detail of all Human literatures about SMAD9

Pathways and Diseases

Pathway

BMP receptor signaling;PID Curated;200123

Pathway

Signaling by BMP;Reactome;REACT:12034

Pathway

ALK1 signaling events;PID Curated;200126

Pathway

TGF-beta signaling pathway;PANTHER;P00052

Pathway

BMP Signalling Pathway;BioCyc;PWY66-11

Pathway

ALK2 signaling events;PID Curated;200138

Pathway

TGF-beta signaling pathway;KEGG PATHWAY;hsa04350

Disease

Pulmonary hypertension, primary;OMIM

External Links

Links to Entrez Gene

4093

Links to all GeneRIF Items

4093

Links to iHOP

4093

Sequence Information

Nucleotide Sequence

>4093 : length: 1404
atgcactccaccacccccatcagctccctcttctccttcaccagccccgcagtgaagaga
ctgctaggctggaagcaaggagatgaagaggaaaagtgggcagagaaggcagtggactct
ctagtgaagaagttaaagaagaagaagggagccatggacgagctggagagggctctcagc
tgcccggggcagcccagcaaatgcgtcacgattccccgctccctggacgggcggctgcag
gtgtcccaccgcaagggcctgccccatgtgatttactgtcgcgtgtggcgctggccggat
ctgcagtcccaccacgagctgaagccgctggagtgctgtgagttcccatttggctccaag
cagaaagaagtgtgcattaacccttaccactaccgccgggtggagactccagtactgcct
cctgtgctcgtgccaagacacagtgaatataacccccagctcagcctcctggccaagttc
cgcagcgcctccctgcacagtgagccactcatgccacacaacgccacctatcctgactct
ttccagcagcctccgtgctctgcactccctccctcacccagccacgcgttctcccagtcc
ccgtgcacggccagctaccctcactccccaggaagtccttctgagccagagagtccctat
caacactcagttgacacaccacccctgccttatcatgccacagaagcctctgagacccag
agtggccaacctgtagatgccacagctgatagacatgtagtgctatcgataccaaatgga
gactttcgaccagtttgttacgaggagccccagcactggtgctcggtcgcctactatgaa
ctgaacaaccgagttggggagacattccaggcttcctcccgaagtgtgctcatagatggg
ttcaccgacccttcaaataacaggaacagattctgtcttggacttctttctaatgtaaac
agaaactcaacgatagaaaataccaggagacatataggaaagggtgtgcacttgtactac
gtcgggggagaggtgtatgccgagtgcgtgagtgacagcagcatctttgtgcagagccgg
aactgcaactatcaacacggcttccacccagctaccgtctgcaagatccccagcggctgc
agcctcaaggtcttcaacaaccagctcttcgctcagctcctggcccagtcagttcaccac
ggctttgaagtcgtgtatgaactgaccaagatgtgtactatccggatgagttttgttaag
ggttggggtgctgagtatcatcgccaggatgtcaccagcaccccctgctggattgagatt
catcttcatgggccactgcagtggctggacaaagttctgactcagatgggctctccacat
aaccccatttcttcagtgtcttaa

Protein Sequence

>4093 : length: 467
MHSTTPISSLFSFTSPAVKRLLGWKQGDEEEKWAEKAVDSLVKKLKKKKGAMDELERALS
CPGQPSKCVTIPRSLDGRLQVSHRKGLPHVIYCRVWRWPDLQSHHELKPLECCEFPFGSK
QKEVCINPYHYRRVETPVLPPVLVPRHSEYNPQLSLLAKFRSASLHSEPLMPHNATYPDS
FQQPPCSALPPSPSHAFSQSPCTASYPHSPGSPSEPESPYQHSVDTPPLPYHATEASETQ
SGQPVDATADRHVVLSIPNGDFRPVCYEEPQHWCSVAYYELNNRVGETFQASSRSVLIDG
FTDPSNNRNRFCLGLLSNVNRNSTIENTRRHIGKGVHLYYVGGEVYAECVSDSSIFVQSR
NCNYQHGFHPATVCKIPSGCSLKVFNNQLFAQLLAQSVHHGFEVVYELTKMCTIRMSFVK
GWGAEYHRQDVTSTPCWIEIHLHGPLQWLDKVLTQMGSPHNPISSVS



')