Gene Page: SMAD7

Summary ?
GeneID4092
SymbolSMAD7
SynonymsCRCS3|MADH7|MADH8
DescriptionSMAD family member 7
ReferenceMIM:602932|HGNC:HGNC:6773|Ensembl:ENSG00000101665|HPRD:04241|Vega:OTTHUMG00000132655
Gene typeprotein-coding
Map location18q21.1
Pascal p-value0.816
Sherlock p-value0.247
TADA p-value0.009
Fetal beta-0.589
eGeneMyers' cis & trans
SupportCompositeSet

Gene in Data Sources
Gene set name Method of gene setDescriptionInfo
CV:PGCnpGenome-wide Association StudyGWAS
DNM:Fromer_2014Whole Exome Sequencing analysisThis study reported a WES study of 623 schizophrenia trios, reporting DNMs using genomic DNA.

Section I. Genetics and epigenetics annotation

@DNM table

GeneChromosomePositionRefAltTranscriptAA changeMutation typeSiftCG46TraitStudy
SMAD7chr1846474778GCNM_001190821
NM_001190822
NM_005904		p.215P>A
.
p.215P>A		missense
5-UTR
missense		SchizophreniaDNM:Fromer_2014

@eQTL annotation

SNP IDChromosomePositioneGeneGene Entrez IDpvalueqvalueTSS distanceeQTL type
rs4405616chr1845593097SMAD740920.14cis

Section II. Transcriptome annotation

General gene expression (GTEx)

Not available

Gene expression during devlopment (BrainCloud)

Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.

Gene expression of temporal and spatial changes (BrainSpan)

Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.

Top co-expressed genes in brain regions

Top 10 positively co-expressed genes
GenePearson's Correlation Spearman's Correlation
WDR780.890.38
LRP2BP0.880.44
YSK40.880.21
CCDC810.880.35
SPAG80.880.60
WDR630.880.18
CCDC1080.880.37
C7orf570.880.30
ARMC30.880.33
RSHL10.870.36
Top 10 negatively co-expressed genes
GenePearson's Correlation Spearman's Correlation
AF347015.27-0.22-0.29
AF347015.15-0.21-0.27
AF347015.31-0.20-0.27
MT-CYB-0.20-0.27
AF347015.2-0.20-0.28
AF347015.8-0.20-0.25
MT-CO2-0.19-0.24
MT-ATP8-0.19-0.28
AF347015.33-0.19-0.22
GBP2-0.18-0.24

Section IV. Protein-protein interaction annotation

InteractorsAliases BOfficial full name BExperimentalSourcePubMed ID
ACVR1BACTRIB | ACVRLK4 | ALK4 | SKR2activin A receptor, type IB-HPRD,BioGRID12023024 
AKT1AKT | MGC99656 | PKB | PKB-ALPHA | PRKBA | RAC | RAC-ALPHAv-akt murine thymoma viral oncogene homolog 1Affinity Capture-WesternBioGRID16362038 
BMPR1A10q23del | ACVRLK3 | ALK3 | CD292bone morphogenetic protein receptor, type IAAffinity Capture-WesternBioGRID15148321 
CTNNB1CTNNB | DKFZp686D02253 | FLJ25606 | FLJ37923catenin (cadherin-associated protein), beta 1, 88kDaAffinity Capture-Western
Co-localization		BioGRID15684397 
DVL1DVL | MGC54245dishevelled, dsh homolog 1 (Drosophila)Reconstituted ComplexBioGRID12650946 
EP300KAT3B | p300E1A binding protein p300-HPRD,BioGRID12408818 
ERBB2IPERBIN | LAP2erbb2 interacting protein-HPRD,BioGRID12650946 
LEF1DKFZp586H0919 | TCF1ALPHAlymphoid enhancer-binding factor 1Affinity Capture-WesternBioGRID15684397 
MAP2K3MAPKK3 | MEK3 | MKK3 | PRKMK3mitogen-activated protein kinase kinase 3-HPRD,BioGRID12589052 
MAP2K6MAPKK6 | MEK6 | MKK6 | PRKMK6 | SAPKK3mitogen-activated protein kinase kinase 6-HPRD,BioGRID12589052 
MAP3K7TAK1 | TGF1amitogen-activated protein kinase kinase kinase 7-HPRD,BioGRID12589052 
MAP3K7IP13'-Tab1 | MGC57664 | TAB1mitogen-activated protein kinase kinase kinase 7 interacting protein 1-HPRD,BioGRID11737269 
MAPK14CSBP1 | CSBP2 | CSPB1 | EXIP | Mxi2 | PRKM14 | PRKM15 | RK | SAPK2A | p38 | p38ALPHAmitogen-activated protein kinase 14-HPRD,BioGRID12589052 
PARD3ASIP | Baz | Bazooka | FLJ21015 | PAR3 | PAR3alpha | PARD3A | SE2-5L16 | SE2-5LT1 | SE2-5T2par-3 partitioning defective 3 homolog (C. elegans)-HPRD12650946 
PARD3BALS2CR19 | MGC16131 | PAR3B | PAR3L | PAR3LC | PAR3beta | Par3Lbpar-3 partitioning defective 3 homolog B (C. elegans)Reconstituted ComplexBioGRID12650946 
PIAS4FLJ12419 | MGC35296 | PIASY | Piasg | ZMIZ6protein inhibitor of activated STAT, 4-HPRD,BioGRID12815042 
RNF111ARK | DKFZp313E0731 | DKFZp686H1966 | DKFZp761D081 | FLJ38008ring finger protein 111-HPRD,BioGRID14657019 
SMAD2JV18 | JV18-1 | MADH2 | MADR2 | MGC22139 | MGC34440 | hMAD-2 | hSMAD2SMAD family member 2Phenotypic SuppressionBioGRID9892009 
SMAD3DKFZp586N0721 | DKFZp686J10186 | HSPC193 | HsT17436 | JV15-2 | MADH3 | MGC60396SMAD family member 3Phenotypic SuppressionBioGRID9892009 |10757800 
SMAD4DPC4 | JIP | MADH4SMAD family member 4Phenotypic SuppressionBioGRID9892009 
SMAD6HsT17432 | MADH6 | MADH7SMAD family member 6-HPRD,BioGRID9256479 
SMURF1KIAA1625SMAD specific E3 ubiquitin protein ligase 1-HPRD11278251 |12151385 
|12519765 
SMURF1KIAA1625SMAD specific E3 ubiquitin protein ligase 1Affinity Capture-Western
in vitro
in vivo		BioGRID11278251 |12151385 
|14722617 
SMURF1KIAA1625SMAD specific E3 ubiquitin protein ligase 1Smad7 interacts with Smurf1. This interaction was modeled on a demonstrated interaction between Smad7 and Smurf1, both from an unspecified species.BIND15820682 
SMURF2DKFZp686F0270 | MGC138150SMAD specific E3 ubiquitin protein ligase 2-HPRD,BioGRID11163210 
SMURF2DKFZp686F0270 | MGC138150SMAD specific E3 ubiquitin protein ligase 2SMAD7 interacts with SMURF2.BIND15761153 
STAMBPAMSH | MGC126516 | MGC126518STAM binding protein-HPRD,BioGRID11483516 
STRAPMAWD | PT-WD | UNRIPserine/threonine kinase receptor associated protein-HPRD,BioGRID10757800 
TGFBR1AAT5 | ACVRLK4 | ALK-5 | ALK5 | LDS1A | LDS2A | SKR4 | TGFR-1transforming growth factor, beta receptor 1-HPRD,BioGRID9215638 
TGFBR2AAT3 | FAA3 | LDS1B | LDS2B | MFS2 | RIIC | TAAD2 | TGFR-2 | TGFbeta-RIItransforming growth factor, beta receptor II (70/80kDa)-HPRD,BioGRID11163210 
YAP1YAP | YAP2 | YAP65 | YKIYes-associated protein 1, 65kDa-HPRD,BioGRID12118366 


Section V. Pathway annotation

Pathway namePathway size# SZGR 2.0 genes in pathwayInfo
KEGG TGF BETA SIGNALING PATHWAY 8664All SZGR 2.0 genes in this pathway
BIOCARTA TGFB PATHWAY 1914All SZGR 2.0 genes in this pathway
PID SMAD2 3NUCLEAR PATHWAY 8263All SZGR 2.0 genes in this pathway
PID HDAC CLASSI PATHWAY 6650All SZGR 2.0 genes in this pathway
PID IFNG PATHWAY 4034All SZGR 2.0 genes in this pathway
PID BMP PATHWAY 4231All SZGR 2.0 genes in this pathway
PID ALK1 PATHWAY 2621All SZGR 2.0 genes in this pathway
PID TGFBR PATHWAY 5538All SZGR 2.0 genes in this pathway
REACTOME SIGNALING BY BMP 2315All SZGR 2.0 genes in this pathway
REACTOME DOWNREGULATION OF TGF BETA RECEPTOR SIGNALING 2313All SZGR 2.0 genes in this pathway
REACTOME SMAD2 SMAD3 SMAD4 HETEROTRIMER REGULATES TRANSCRIPTION 2717All SZGR 2.0 genes in this pathway
REACTOME TGF BETA RECEPTOR SIGNALING ACTIVATES SMADS 2616All SZGR 2.0 genes in this pathway
REACTOME TRANSCRIPTIONAL ACTIVITY OF SMAD2 SMAD3 SMAD4 HETEROTRIMER 3826All SZGR 2.0 genes in this pathway
REACTOME GENERIC TRANSCRIPTION PATHWAY 352181All SZGR 2.0 genes in this pathway
REACTOME SIGNALING BY TGF BETA RECEPTOR COMPLEX 6342All SZGR 2.0 genes in this pathway
SCHUETZ BREAST CANCER DUCTAL INVASIVE UP 351230All SZGR 2.0 genes in this pathway
FULCHER INFLAMMATORY RESPONSE LECTIN VS LPS UP 579346All SZGR 2.0 genes in this pathway
BASAKI YBX1 TARGETS UP 290177All SZGR 2.0 genes in this pathway
SMIRNOV CIRCULATING ENDOTHELIOCYTES IN CANCER UP 158103All SZGR 2.0 genes in this pathway
OSMAN BLADDER CANCER UP 404246All SZGR 2.0 genes in this pathway
GARGALOVIC RESPONSE TO OXIDIZED PHOSPHOLIPIDS GREY DN 7444All SZGR 2.0 genes in this pathway
KIM WT1 TARGETS 12HR DN 209122All SZGR 2.0 genes in this pathway
KOKKINAKIS METHIONINE DEPRIVATION 48HR UP 12895All SZGR 2.0 genes in this pathway
KOKKINAKIS METHIONINE DEPRIVATION 96HR UP 11784All SZGR 2.0 genes in this pathway
ENK UV RESPONSE EPIDERMIS DN 508354All SZGR 2.0 genes in this pathway
ENK UV RESPONSE KERATINOCYTE UP 530342All SZGR 2.0 genes in this pathway
VANHARANTA UTERINE FIBROID DN 6745All SZGR 2.0 genes in this pathway
MARKS ACETYLATED NON HISTONE PROTEINS 159All SZGR 2.0 genes in this pathway
PEREZ TP53 TARGETS 1174695All SZGR 2.0 genes in this pathway
PEREZ TP63 TARGETS 355243All SZGR 2.0 genes in this pathway
PEREZ TP53 AND TP63 TARGETS 205145All SZGR 2.0 genes in this pathway
DACOSTA UV RESPONSE VIA ERCC3 TTD DN 8463All SZGR 2.0 genes in this pathway
BREUHAHN GROWTH FACTOR SIGNALING IN LIVER CANCER 2219All SZGR 2.0 genes in this pathway
DACOSTA UV RESPONSE VIA ERCC3 DN 855609All SZGR 2.0 genes in this pathway
BENPORATH MYC TARGETS WITH EBOX 230156All SZGR 2.0 genes in this pathway
SHIN B CELL LYMPHOMA CLUSTER 8 3628All SZGR 2.0 genes in this pathway
SMITH TERT TARGETS UP 14591All SZGR 2.0 genes in this pathway
KANNAN TP53 TARGETS UP 5840All SZGR 2.0 genes in this pathway
NAKAJIMA EOSINOPHIL 3020All SZGR 2.0 genes in this pathway
HADDAD T LYMPHOCYTE AND NK PROGENITOR UP 7856All SZGR 2.0 genes in this pathway
HALMOS CEBPA TARGETS DN 4626All SZGR 2.0 genes in this pathway
DORSEY GAB2 TARGETS 3117All SZGR 2.0 genes in this pathway
REN ALVEOLAR RHABDOMYOSARCOMA DN 408274All SZGR 2.0 genes in this pathway
KAAB HEART ATRIUM VS VENTRICLE UP 249170All SZGR 2.0 genes in this pathway
WANG CISPLATIN RESPONSE AND XPC DN 228146All SZGR 2.0 genes in this pathway
IVANOVA HEMATOPOIESIS STEM CELL 254164All SZGR 2.0 genes in this pathway
GENTILE UV RESPONSE CLUSTER D2 4130All SZGR 2.0 genes in this pathway
GENTILE UV HIGH DOSE DN 312203All SZGR 2.0 genes in this pathway
DAZARD RESPONSE TO UV NHEK DN 318220All SZGR 2.0 genes in this pathway
DURCHDEWALD SKIN CARCINOGENESIS DN 264168All SZGR 2.0 genes in this pathway
MONNIER POSTRADIATION TUMOR ESCAPE DN 373196All SZGR 2.0 genes in this pathway
MARSON BOUND BY FOXP3 STIMULATED 1022619All SZGR 2.0 genes in this pathway
MARSON BOUND BY FOXP3 UNSTIMULATED 1229713All SZGR 2.0 genes in this pathway
FOSTER TOLERANT MACROPHAGE UP 15692All SZGR 2.0 genes in this pathway
GAUTSCHI SRC SIGNALING 86All SZGR 2.0 genes in this pathway
BONCI TARGETS OF MIR15A AND MIR16 1 9175All SZGR 2.0 genes in this pathway
LABBE TGFB1 TARGETS UP 10264All SZGR 2.0 genes in this pathway
COULOUARN TEMPORAL TGFB1 SIGNATURE UP 10968All SZGR 2.0 genes in this pathway
CAIRO HEPATOBLASTOMA CLASSES DN 210141All SZGR 2.0 genes in this pathway
DANG BOUND BY MYC 1103714All SZGR 2.0 genes in this pathway
WONG ADULT TISSUE STEM MODULE 721492All SZGR 2.0 genes in this pathway
BROWNE HCMV INFECTION 4HR DN 254158All SZGR 2.0 genes in this pathway
CARD MIR302A TARGETS 7762All SZGR 2.0 genes in this pathway
BRUINS UVC RESPONSE VIA TP53 GROUP B 549316All SZGR 2.0 genes in this pathway
MIYAGAWA TARGETS OF EWSR1 ETS FUSIONS DN 229135All SZGR 2.0 genes in this pathway
LEE BMP2 TARGETS DN 882538All SZGR 2.0 genes in this pathway
KOINUMA TARGETS OF SMAD2 OR SMAD3 824528All SZGR 2.0 genes in this pathway
PURBEY TARGETS OF CTBP1 AND SATB1 DN 180116All SZGR 2.0 genes in this pathway
PLASARI TGFB1 TARGETS 1HR UP 3426All SZGR 2.0 genes in this pathway
KRIEG HYPOXIA NOT VIA KDM3A 770480All SZGR 2.0 genes in this pathway
RAO BOUND BY SALL4 ISOFORM B 517302All SZGR 2.0 genes in this pathway
ZWANG CLASS 3 TRANSIENTLY INDUCED BY EGF 222159All SZGR 2.0 genes in this pathway