Property Summary

NCBI Gene PubMed Count 62
PubMed Score 90.17
PubTator Score 59.62

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (4)

Disease Target Count P-value
non-small cell lung cancer 2798 7.74514968310538E-20
lung carcinoma 2844 1.59701836644398E-8
lung adenocarcinoma 2714 1.53895081340628E-6
malignant mesothelioma 3163 1.69788561483727E-6
group 4 medulloblastoma 1875 5.53794914114266E-6
medulloblastoma, large-cell 6234 3.32211706476042E-4
colon cancer 1475 0.00122697959241485
cystic fibrosis 1670 0.00282214139472388
ductal carcinoma in situ 1745 0.00374761334513752
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.00807189128928639
psoriasis 6685 0.00886748631350446
invasive ductal carcinoma 2950 0.0215088323219978
osteosarcoma 7933 0.0261945108019102
Disease Target Count Z-score Confidence
Craniosynostosis 47 0.0 4.0
Disease Target Count Z-score Confidence
Fibrodysplasia ossificans progressiva 17 3.358 1.7

Expression

  Differential Expression (13)

Disease log2 FC p
malignant mesothelioma -1.200 0.000
psoriasis 1.300 0.009
osteosarcoma 1.589 0.026
group 4 medulloblastoma -1.900 0.000
medulloblastoma, large-cell -1.500 0.000
non-small cell lung cancer -2.321 0.000
intraductal papillary-mucinous neoplasm ... 1.800 0.008
colon cancer 1.500 0.001
cystic fibrosis -1.200 0.003
lung adenocarcinoma -1.344 0.000
lung carcinoma -1.700 0.000
ductal carcinoma in situ -1.200 0.004
invasive ductal carcinoma -1.300 0.022

Synonym

Accession O43541 A9J6M5 O43654 Q15799 Q7Z7L4 Q96E31 Q9UKZ3 MAD homolog 6
Symbols AOVD2
MADH6
MADH7
HsT17432

Gene

PANTHER Protein Class (1)

  Ortholog (10)

Gene RIF (40)

PMID Text
24162774 HIV-1 gp120 upregulates the expression of SMAD family member 6 (SMAD6) in human B cells
23455153 monoubiquitinated SMAD6 impairs the binding affinity of non-modified SMAD6 to the BMP type I receptor. Moreover, UBE2O and SMAD6 cooperated in the regulation of BMP7-induced adipogenesis
23284751 Single Nucleotide Polymorphisms in SMAD6 gene is associated with brain metastasis in non-small-cell lung cancer
22705548 Smad6 indirectly maintains stemness by preventing spontaneous erythropoiesis in hematopoietic stem cells.
22275001 Congenital cardiovascular malformation is related to genetic variation in SMAD6
22223368 Loss of SMAD6 is associated with lung adenocarcinoma.
21984931 Haplotype analysis further revealed that two haplotype blocks within SMAD6 were significantly associated with decreased ovarian cancer risk, as compared to the most common haplotype.
21897371 results suggest that MyD88 degradation driven by the Smad6-Smurf pathway is a novel mechanism for TGF-beta1-mediated negative regulation of MyD88-dependent pro-inflammatory signalling
21576367 Data show that Runx1, in conjunction with Fli1, Gata2, and Scl, directly regulates the expression of Smad6 in the aorta-gonad-mesonephros region in the developing embryo, where hematopoietic stem cells originate.
20734064 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MFRSKRSGLVRRLWRSRVVPDREEGGSGGGGGGDEDGSLGSRAEPAPRAREGGGCGRSEVRPVAPRRPRD      1 - 70
AVGQRGAQGAGRRRRAGGPPRPMSEPGAGAGSSLLDVAEPGGPGWLPESDCETVTCCLFSERDAAGAPRD     71 - 140
ASDPLAGAALEPAGGGRSREARSRLLLLEQELKTVTYSLLKRLKERSLDTLLEAVESRGGVPGGCVLVPR    141 - 210
ADLRLGGQPAPPQLLLGRLFRWPDLQHAVELKPLCGCHSFAAAADGPTVCCNPYHFSRLCGPESPPPPYS    211 - 280
RLSPRDEYKPLDLSDSTLSYTETEATNSLITAPGEFSDASMSPDATKPSHWCSVAYWEHRTRVGRLYAVY    281 - 350
DQAVSIFYDLPQGSGFCLGQLNLEQRSESVRRTRSKIGFGILLSKEPDGVWAYNRGEHPIFVNSPTLDAP    351 - 420
GGRALVVRKVPPGYSIKVFDFERSGLQHAPEPDAADGPYDPNSVRISFAKGWGPCYSRQFITSCPCWLEI    421 - 490
LLNNPR                                                                    491 - 496
//

Text Mined References (63)

PMID Year Title
24658283 2014 A genome-wide gene-environment interaction analysis for tobacco smoke and lung cancer susceptibility.
23610558 2013 Rnf165/Ark2C enhances BMP-Smad signaling to mediate motor axon extension.
23455153 2013 Fine-tuning BMP7 signalling in adipogenesis by UBE2O/E2-230K-mediated monoubiquitination of SMAD6.
23284751 2012 SNPs in the TGF-? signaling pathway are associated with increased risk of brain metastasis in patients with non-small-cell lung cancer.
22705548 2012 Inhibition of erythropoiesis by Smad6 in human cord blood hematopoietic stem cells.
22589738 2012 Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
22275001 2012 Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation.
22223368 2012 Association of lung adenocarcinoma clinical stage with gene expression pattern in noninvolved lung tissue.
21984931 2011 Genetic variants in TGF-? pathway are associated with ovarian cancer risk.
21897371 2011 Smad6-specific recruitment of Smurf E3 ligases mediates TGF-?1-induced degradation of MyD88 in TLR4 signalling.
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