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

Basic Information

Gene ID

4087

Name

SMAD2

Synonym

JV18|JV18-1|MADH2|MADR2|hMAD-2|hSMAD2;SMAD family member 2;SMAD2;SMAD family member 2

Definition

MAD homolog 2|SMAD, mothers against DPP homolog 2|Sma- and Mad-related protein 2|mother against DPP homolog 2|mothers against decapentaplegic homolog 2

Position

18q21.1

Gene Type

protein-coding

PAH Type

Description

PAH

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

PH

"The transforming growth factor-beta/Smad2,3 signalling axis is impaired in experimental pulmonary hypertension."
More detail of all Human literatures about SMAD2

Pathways and Diseases

Pathway

Chagas disease;KEGG PATHWAY;hsa05142

Pathway

Endocytosis;KEGG PATHWAY;hsa04144

Pathway

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

Pathway

Adherens junction;KEGG PATHWAY;hsa04520

Pathway

Glypican 1 network;PID Curated;200021

Pathway

TGF-beta receptor signaling;PID Curated;200195

Pathway

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

Pathway

TGF-beta signaling pathway;PANTHER;P00052

Pathway

Wnt signaling pathway;KEGG PATHWAY;hsa04310

Pathway

tgf beta signaling pathway;PID BioCarta;100017

Pathway

Cell cycle;KEGG PATHWAY;hsa04110

Pathway

TGF-beta signaling pathway;KEGG PATHWAY;hsa04350

Pathway

Signaling by TGF beta;Reactome;REACT:6844

Pathway

Pathways in cancer;KEGG PATHWAY;hsa05200

Pathway

Colorectal cancer;KEGG PATHWAY;hsa05210

Pathway

Pancreatic cancer;KEGG PATHWAY;hsa05212

Disease

Colorectal cancer;KEGG DISEASE;H00020

Disease

Amyotrophic lateral sclerosis;FunDO

Disease

Cancers;KEGG DISEASE

Disease

Dermatitis;FunDO

Disease

Skin cancer;FunDO

Disease

Asthma;FunDO

Disease

Cancer;FunDO

Disease

Cancers of the digestive system;KEGG DISEASE

External Links

Links to Entrez Gene

4087

Links to all GeneRIF Items

4087

Links to iHOP

4087

Sequence Information

Nucleotide Sequence

>4087 : length: 1404
atgtcgtccatcttgccattcacgccgccagttgtgaagagactgctgggatggaagaag
tcagctggtgggtctggaggagcaggcggaggagagcagaatgggcaggaagaaaagtgg
tgtgagaaagcagtgaaaagtctggtgaagaagctaaagaaaacaggacgattagatgag
cttgagaaagccatcaccactcaaaactgtaatactaaatgtgttaccataccaagcact
tgctctgaaatttggggactgagtacaccaaatacgatagatcagtgggatacaacaggc
ctttacagcttctctgaacaaaccaggtctcttgatggtcgtctccaggtatcccatcga
aaaggattgccacatgttatatattgccgattatggcgctggcctgatcttcacagtcat
catgaactcaaggcaattgaaaactgcgaatatgcttttaatcttaaaaaggatgaagta
tgtgtaaacccttaccactatcagagagttgagacaccagttttgcctccagtattagtg
ccccgacacaccgagatcctaacagaacttccgcctctggatgactatactcactccatt
ccagaaaacactaacttcccagcaggaattgagccacagagtaattatattccagaaacg
ccacctcctggatatatcagtgaagatggagaaacaagtgaccaacagttgaatcaaagt
atggacacaggctctccagcagaactatctcctactactctttcccctgttaatcatagc
ttggatttacagccagttacttactcagaacctgcattttggtgttcgatagcatattat
gaattaaatcagagggttggagaaaccttccatgcatcacagccctcactcactgtagat
ggctttacagacccatcaaattcagagaggttctgcttaggtttactctccaatgttaac
cgaaatgccacggtagaaatgacaagaaggcatataggaagaggagtgcgcttatactac
ataggtggggaagtttttgctgagtgcctaagtgatagtgcaatctttgtgcagagcccc
aattgtaatcagagatatggctggcaccctgcaacagtgtgtaaaattccaccaggctgt
aatctgaagatcttcaacaaccaggaatttgctgctcttctggctcagtctgttaatcag
ggttttgaagccgtctatcagctaactagaatgtgcaccataagaatgagttttgtgaaa
gggtggggagcagaataccgaaggcagacggtaacaagtactccttgctggattgaactt
catctgaatggacctctacagtggttggacaaagtattaactcagatgggatccccttca
gtgcgttgctcaagcatgtcataa

Protein Sequence

>4087 : length: 467
MSSILPFTPPVVKRLLGWKKSAGGSGGAGGGEQNGQEEKWCEKAVKSLVKKLKKTGRLDE
LEKAITTQNCNTKCVTIPSTCSEIWGLSTPNTIDQWDTTGLYSFSEQTRSLDGRLQVSHR
KGLPHVIYCRLWRWPDLHSHHELKAIENCEYAFNLKKDEVCVNPYHYQRVETPVLPPVLV
PRHTEILTELPPLDDYTHSIPENTNFPAGIEPQSNYIPETPPPGYISEDGETSDQQLNQS
MDTGSPAELSPTTLSPVNHSLDLQPVTYSEPAFWCSIAYYELNQRVGETFHASQPSLTVD
GFTDPSNSERFCLGLLSNVNRNATVEMTRRHIGRGVRLYYIGGEVFAECLSDSAIFVQSP
NCNQRYGWHPATVCKIPPGCNLKIFNNQEFAALLAQSVNQGFEAVYQLTRMCTIRMSFVK
GWGAEYRRQTVTSTPCWIELHLNGPLQWLDKVLTQMGSPSVRCSSMS



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