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

Basic Information

Gene ID

4089

Name

SMAD4

Synonym

DPC4|JIP|MADH4|MYHRS;SMAD family member 4;SMAD4;SMAD family member 4

Definition

MAD homolog 4|SMAD, mothers against DPP homolog 4|deleted in pancreatic carcinoma locus 4|deletion target in pancreatic carcinoma 4|mothers against decapentaplegic homolog 4|mothers against decapentaplegic, Drosophila, homolog of, 4

Position

18q21.1

Gene Type

protein-coding

PAH Type

Description

PAH

"A putative splice site mutation in SMAD4 resulted in moderate transcript loss due to compromised splicing efficiency in PAH, pulmonary arterial hypertension."
More detail of all Human literatures about SMAD4

Pathways and Diseases

Pathway

Signaling by BMP;PID Reactome;500592

Pathway

nfkb activation by nontypeable hemophilus influenzae;PID BioCarta;100088

Pathway

alk in cardiac myocytes;PID BioCarta;100244

Pathway

HIF-1-alpha transcription factor network;PID Curated;200172

Pathway

ALK1 signaling events;PID Curated;200126

Pathway

TGF-beta signaling pathway;PANTHER;P00052

Pathway

tgf beta signaling pathway;PID BioCarta;100017

Pathway

cell cycle: g1/s check point;PID BioCarta;100160

Pathway

Pancreatic cancer;KEGG PATHWAY;hsa05212

Pathway

Wnt signaling pathway;KEGG PATHWAY;hsa04310

Pathway

BMP receptor signaling;PID Curated;200123

Pathway

Chronic myeloid leukemia;KEGG PATHWAY;hsa05220

Pathway

TGF-beta receptor signaling;PID Curated;200195

Pathway

Regulation of nuclear SMAD2/3 signaling;PID Curated;200002

Pathway

BMP Signalling Pathway;BioCyc;PWY66-11

Pathway

Validated targets of C-MYC transcriptional repression;PID Curated;200171

Pathway

Validated targets of C-MYC transcriptional activation;PID Curated;200045

Pathway

Colorectal cancer;KEGG PATHWAY;hsa05210

Pathway

ctcf: first multivalent nuclear factor;PID BioCarta;100194

Pathway

LKB1 signaling events;PID Curated;200061

Pathway

Adherens junction;KEGG PATHWAY;hsa04520

Pathway

Wnt signaling pathway;PANTHER;P00057

Pathway

wnt signaling pathway;PID BioCarta;100002

Pathway

Signaling by BMP;Reactome;REACT:12034

Pathway

TGF-beta signaling pathway;KEGG PATHWAY;hsa04350

Pathway

Cell cycle;KEGG PATHWAY;hsa04110

Pathway

Pathways in cancer;KEGG PATHWAY;hsa05200

Pathway

Signaling by TGF beta;PID Reactome;500590

Pathway

ALK2 signaling events;PID Curated;200138

Pathway

Regulation of cytoplasmic and nuclear SMAD2/3 signaling;PID Curated;200152

Pathway

Signaling by TGF beta;Reactome;REACT:6844

Disease

Colorectal cancer;KEGG DISEASE;H00020

Disease

Capillaries disease;FunDO

Disease

Cancers;KEGG DISEASE

Disease

polyposis, gastric;GAD

Disease

Pancreatic cancer;KEGG DISEASE;H00019

Disease

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome;OMIM

Disease

Pancreatic cancer;OMIM

Disease

polyposis, juvenile;GAD

Disease

Cancer;FunDO

Disease

Cancers of the digestive system;KEGG DISEASE

Disease

juvenile polyposis syndrome;GAD

Disease

Polyposis, juvenile intestinal;OMIM

Disease

Vascular disease;FunDO

External Links

Links to Entrez Gene

4089

Links to all GeneRIF Items

4089

Links to iHOP

4089

Sequence Information

Nucleotide Sequence

>4089 : length: 1659
atggacaatatgtctattacgaatacaccaacaagtaatgatgcctgtctgagcattgtg
catagtttgatgtgccatagacaaggtggagagagtgaaacatttgcaaaaagagcaatt
gaaagtttggtaaagaagctgaaggagaaaaaagatgaattggattctttaataacagct
ataactacaaatggagctcatcctagtaaatgtgttaccatacagagaacattggatggg
aggcttcaggtggctggtcggaaaggatttcctcatgtgatctatgcccgtctctggagg
tggcctgatcttcacaaaaatgaactaaaacatgttaaatattgtcagtatgcgtttgac
ttaaaatgtgatagtgtctgtgtgaatccatatcactacgaacgagttgtatcacctgga
attgatctctcaggattaacactgcagagtaatgctccatcaagtatgatggtgaaggat
gaatatgtgcatgactttgagggacagccatcgttgtccactgaaggacattcaattcaa
accatccagcatccaccaagtaatcgtgcatcgacagagacatacagcaccccagctctg
ttagccccatctgagtctaatgctaccagcactgccaactttcccaacattcctgtggct
tccacaagtcagcctgccagtatactggggggcagccatagtgaaggactgttgcagata
gcatcagggcctcagccaggacagcagcagaatggatttactggtcagccagctacttac
catcataacagcactaccacctggactggaagtaggactgcaccatacacacctaatttg
cctcaccaccaaaacggccatcttcagcaccacccgcctatgccgccccatcccggacat
tactggcctgttcacaatgagcttgcattccagcctcccatttccaatcatcctgctcct
gagtattggtgttccattgcttactttgaaatggatgttcaggtaggagagacatttaag
gttccttcaagctgccctattgttactgttgatggatacgtggacccttctggaggagat
cgcttttgtttgggtcaactctccaatgtccacaggacagaagccattgagagagcaagg
ttgcacataggcaaaggtgtgcagttggaatgtaaaggtgaaggtgatgtttgggtcagg
tgccttagtgaccacgcggtctttgtacagagttactacttagacagagaagctgggcgt
gcacctggagatgctgttcataagatctacccaagtgcatatataaaggtctttgatttg
cgtcagtgtcatcgacagatgcagcagcaggcggctactgcacaagctgcagcagctgcc
caggcagcagccgtggcaggaaacatccctggcccaggatcagtaggtggaatagctcca
gctatcagtctgtcagctgctgctggaattggtgttgatgaccttcgtcgcttatgcata
ctcaggatgagttttgtgaaaggctggggaccggattacccaagacagagcatcaaagaa
acaccttgctggattgaaattcacttacaccgggccctccagctcctagacgaagtactt
cataccatgccgattgcagacccacaacctttagactga

Protein Sequence

>4089 : length: 552
MDNMSITNTPTSNDACLSIVHSLMCHRQGGESETFAKRAIESLVKKLKEKKDELDSLITA
ITTNGAHPSKCVTIQRTLDGRLQVAGRKGFPHVIYARLWRWPDLHKNELKHVKYCQYAFD
LKCDSVCVNPYHYERVVSPGIDLSGLTLQSNAPSSMMVKDEYVHDFEGQPSLSTEGHSIQ
TIQHPPSNRASTETYSTPALLAPSESNATSTANFPNIPVASTSQPASILGGSHSEGLLQI
ASGPQPGQQQNGFTGQPATYHHNSTTTWTGSRTAPYTPNLPHHQNGHLQHHPPMPPHPGH
YWPVHNELAFQPPISNHPAPEYWCSIAYFEMDVQVGETFKVPSSCPIVTVDGYVDPSGGD
RFCLGQLSNVHRTEAIERARLHIGKGVQLECKGEGDVWVRCLSDHAVFVQSYYLDREAGR
APGDAVHKIYPSAYIKVFDLRQCHRQMQQQAATAQAAAAAQAAAVAGNIPGPGSVGGIAP
AISLSAAAGIGVDDLRRLCILRMSFVKGWGPDYPRQSIKETPCWIEIHLHRALQLLDEVL
HTMPIADPQPLD



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