SMAD6 (SMAD family member 6)

2004-02-01  

Identity

HGNC
LOCATION
15q22.31
LOCUSID
ALIAS
AOVD2,HsT17432,MADH6,MADH7
FUSION GENES

Other Information

Locus ID:

NCBI: 4091
MIM: 602931
HGNC: 6772
Ensembl: ENSG00000137834

Variants:

dbSNP: 4091
ClinVar: 4091
TCGA: ENSG00000137834
COSMIC: SMAD6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000137834ENST00000288840O43541
ENSG00000137834ENST00000557916O43541
ENSG00000137834ENST00000558937H0YK80
ENSG00000137834ENST00000559931H0YM33

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
TGF-beta signaling pathwayKEGGko04350
TGF-beta signaling pathwayKEGGhsa04350
Signal TransductionREACTOMER-HSA-162582
Signaling by BMPREACTOMER-HSA-201451

References

Pubmed IDYearTitleCitations
179344612007A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk.235
192116122009A new nonsense mutation of SMAD8 associated with pulmonary arterial hypertension.62
162993792006Smad6 interacts with Runx2 and mediates Smad ubiquitin regulatory factor 1-induced Runx2 degradation.51
276064992016Two locus inheritance of non-syndromic midline craniosynostosis via rare <i>SMAD6</i> and common <i>BMP2</i> alleles.49
169516882006Smad6 negatively regulates interleukin 1-receptor-Toll-like receptor signaling through direct interaction with the adaptor Pellino-1.44
218973712011Smad6-specific recruitment of Smurf E3 ligases mediates TGF-β1-induced degradation of MyD88 in TLR4 signalling.43
207340642010A large-scale candidate gene association study of age at menarche and age at natural menopause.38
234551532013Fine-tuning BMP7 signalling in adipogenesis by UBE2O/E2-230K-mediated monoubiquitination of SMAD6.37
146455202003Smad6 recruits transcription corepressor CtBP to repress bone morphogenetic protein-induced transcription.35
178507762007ERK signaling is a central regulator for BMP-4 dependent capillary sprouting.33

Citation

Dessen P

SMAD6 (SMAD family member 6)

Atlas Genet Cytogenet Oncol Haematol. 2004-02-01

Online version: http://atlasgeneticsoncology.org/gene/41231/smad6-(smad-family-member-6)