SMAD7 (SMAD family member 7) - Rat Genome Database

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Gene: SMAD7 (SMAD family member 7) Homo sapiens
Analyze
Symbol: SMAD7
Name: SMAD family member 7
RGD ID: 1344957
HGNC Page HGNC:6773
Description: Enables several functions, including I-SMAD binding activity; beta-catenin binding activity; and signaling receptor binding activity. Involved in several processes, including negative regulation of nitrogen compound metabolic process; negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway; and protein stabilization. Located in several cellular components, including adherens junction; centrosome; and nuclear lumen. Part of protein-containing complex. Is active in plasma membrane. Implicated in colorectal cancer and pancreatic adenocarcinoma. Biomarker of endometrial cancer; hepatocellular carcinoma; liver cirrhosis; and pancreatic cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CRCS3; FLJ16482; hSMAD7; MAD (mothers against decapentaplegic, Drosophila) homolog 7; MAD homolog 7; MAD homolog 8; MAD, mothers against decapentaplegic homolog 7; MADH7; MADH8; mothers against decapentaplegic homolog 7; mothers against decapentaplegic homolog 8; Mothers against decapentaplegic, drosophila, homolog of, 7; mothers against DPP homolog 7; mothers against DPP homolog 8; SMAD 7; SMAD, mothers against DPP homolog 7; smad, mothers against dpp homolog 7 (drosophila)
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381848,919,853 - 48,950,965 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1848,919,853 - 48,950,965 (-)EnsemblGRCh38hg38GRCh38
GRCh371846,446,223 - 46,477,335 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361844,700,221 - 44,731,079 (-)NCBINCBI36Build 36hg18NCBI36
Build 341844,700,221 - 44,731,079NCBI
Celera1843,299,268 - 43,330,141 (-)NCBICelera
Cytogenetic Map18q21.1NCBI
HuRef1843,299,249 - 43,329,936 (-)NCBIHuRef
CHM1_11846,441,162 - 46,472,026 (-)NCBICHM1_1
T2T-CHM13v2.01849,115,112 - 49,146,228 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,3-dinitrobenzene  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-amino-2-deoxy-D-galactopyranose  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (EXP,ISO)
3-Methoxynobiletin  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP)
5-aza-2'-deoxycytidine  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
7,9-dihydro-1H-purine-2,6,8(3H)-trione  (EXP)
acrylamide  (EXP)
acteoside  (EXP)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
ammonium chloride  (ISO)
Ammothamnine  (ISO)
antigen  (ISO)
aristolochic acid A  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (EXP,ISO)
azoxystrobin  (ISO)
benzo[a]pyrene  (EXP)
benzo[e]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bleomycin A2  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
cadmium sulfate  (ISO)
calcitriol  (EXP)
carbamazepine  (EXP)
carbofuran  (ISO)
carbon nanotube  (ISO)
carvedilol  (ISO)
chlordecone  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
cisplatin  (EXP,ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP)
dexamethasone  (EXP)
dibutyl phthalate  (ISO)
dimethylarsinous acid  (EXP)
dioxygen  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
enalapril  (ISO)
endosulfan  (EXP,ISO)
entinostat  (EXP)
epoxiconazole  (ISO)
ethyl methanesulfonate  (EXP)
flavonoids  (ISO)
folic acid  (ISO)
formaldehyde  (EXP)
fulvestrant  (EXP)
galangin  (EXP)
genistein  (ISO)
gentamycin  (ISO)
geraniol  (EXP)
glycyrrhizinic acid  (EXP)
glyphosate  (ISO)
imidacloprid  (ISO)
indometacin  (EXP)
inulin  (ISO)
isobutyl nitrite  (ISO)
L-methionine  (ISO)
leflunomide  (EXP)
Licochalcone B  (EXP)
manganese(II) chloride  (EXP)
methapyrilene  (EXP)
methotrexate  (ISO)
methoxychlor  (ISO)
methyl methanesulfonate  (EXP)
methylseleninic acid  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
Monobutylphthalate  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-methyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
naphthalenes  (ISO)
nickel atom  (EXP)
nitrofen  (ISO)
octreotide  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
pasireotide  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perindopril  (ISO)
picrotoxin  (ISO)
pirfenidone  (ISO)
pirinixic acid  (ISO)
potassium chromate  (EXP)
progesterone  (ISO)
propiconazole  (ISO)
quercetin  (EXP,ISO)
raloxifene  (EXP)
rebaudioside A  (ISO)
resorcinol  (EXP)
resveratrol  (EXP)
SB 431542  (EXP,ISO)
serpentine asbestos  (ISO)
silicon dioxide  (EXP)
silver atom  (EXP,ISO)
silver(0)  (EXP,ISO)
sodium arsenite  (EXP)
sorafenib  (ISO)
streptozocin  (ISO)
succimer  (EXP)
sunitinib  (EXP)
tacrolimus hydrate  (EXP,ISO)
tamoxifen  (EXP,ISO)
Tanshinone I  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
thapsigargin  (ISO)
thiabendazole  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
ursodeoxycholic acid  (ISO)
valproic acid  (EXP)
valsartan  (ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adherens junction assembly  (IMP)
anatomical structure morphogenesis  (IBA,IEA)
artery morphogenesis  (IEA,ISS)
cell differentiation  (IBA,IEA)
cellular response to leukemia inhibitory factor  (IEA,ISO)
cellular response to transforming growth factor beta stimulus  (IEA,IMP)
intracellular signal transduction  (ISO)
negative regulation of activin receptor signaling pathway  (IDA)
negative regulation of BMP signaling pathway  (IDA,IEA,ISO)
negative regulation of cell migration  (TAS)
negative regulation of chondrocyte proliferation  (IEA)
negative regulation of DNA-templated transcription  (ISO)
negative regulation of epithelial to mesenchymal transition  (TAS)
negative regulation of ossification  (IEA)
negative regulation of peptidyl-serine phosphorylation  (IDA,IEA)
negative regulation of peptidyl-threonine phosphorylation  (IDA,IEA)
negative regulation of protein ubiquitination  (IDA)
negative regulation of SMAD protein signal transduction  (IDA,IEA,IMP,ISS)
negative regulation of T cell cytokine production  (IEA,ISS)
negative regulation of T-helper 17 cell differentiation  (IEA,ISS)
negative regulation of T-helper 17 type immune response  (IEA,ISS)
negative regulation of transcription by competitive promoter binding  (IDA)
negative regulation of transcription by RNA polymerase II  (IDA)
negative regulation of transforming growth factor beta receptor signaling pathway  (IDA,IMP)
positive regulation of cell-cell adhesion  (IDA,IEA)
positive regulation of chondrocyte hypertrophy  (IEA)
positive regulation of proteasomal ubiquitin-dependent protein catabolic process  (TAS)
protein stabilization  (IDA)
protein-containing complex localization  (IDA)
regulation of cardiac muscle contraction  (IEA,ISS)
regulation of DNA-templated transcription  (IEA)
regulation of epithelial to mesenchymal transition  (IMP)
regulation of gene expression  (IEA)
regulation of transcription by RNA polymerase II  (IBA,IEA)
regulation of transforming growth factor beta receptor signaling pathway  (IC,ISO)
regulation of ventricular cardiac muscle cell membrane depolarization  (IC)
response to laminar fluid shear stress  (IEP)
SMAD protein signal transduction  (IBA,IEA)
transforming growth factor beta receptor signaling pathway  (IBA,IEA,ISO)
ureteric bud development  (IEA)
ventricular cardiac muscle tissue morphogenesis  (IEA,ISS)
ventricular septum morphogenesis  (IEA,ISS)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Impaired Smad7-Smurf-mediated negative regulation of TGF-beta signaling in scleroderma fibroblasts. Asano Y, etal., J Clin Invest. 2004 Jan;113(2):253-64.
2. Overexpression of the TGF-beta antagonist Smad7 in endometrial cancer. Dowdy SC, etal., Gynecol Oncol. 2005 Feb;96(2):368-73.
3. Smad7 regulates compensatory hepatocyte proliferation in damaged mouse liver and positively relates to better clinical outcome in human hepatocellular carcinoma. Feng T, etal., Clin Sci (Lond). 2015 Jun;128(11):761-74. doi: 10.1042/CS20140606.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. The TGF-beta signaling inhibitor Smad7 enhances tumorigenicity in pancreatic cancer. Kleeff J, etal., Oncogene. 1999 Sep 23;18(39):5363-72. doi: 10.1038/sj.onc.1202909.
6. TGFbeta in Cancer. Massagué J, Cell. 2008 Jul 25;134(2):215-30. doi: 10.1016/j.cell.2008.07.001.
7. Dysregulated bone morphogenetic protein signaling in monocrotaline-induced pulmonary arterial hypertension. Morty RE, etal., Arterioscler Thromb Vasc Biol. 2007 May;27(5):1072-8. Epub 2007 Mar 8.
8. Altered expression of Smad family members in injured motor neurons of rat. Okuyama N, etal., Brain Res. 2007 Feb 9;1132(1):36-41. Epub 2006 Dec 12.
9. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
10. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
11. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
12. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
13. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
14. Mechanisms of TGF-beta signaling from cell membrane to the nucleus. Shi Y and Massague J, Cell. 2003 Jun 13;113(6):685-700.
15. Localization of Smad6 and Smad7 in the rat kidney and their regulated expression in the anti-Thy-1 nephritis. Uchida K, etal., Mol Cell Biol Res Commun. 2000 Aug;4(2):98-105.
16. Mutation analysis of the Smad6 and Smad7 gene in human ovarian cancers. Wang D, etal., Int J Oncol. 2000 Dec;17(6):1087-91.
Additional References at PubMed
PMID:9215638   PMID:9256479   PMID:9335507   PMID:9436979   PMID:9730599   PMID:9759503   PMID:9786930   PMID:9892009   PMID:10647776   PMID:10708948   PMID:10708949   PMID:10757800  
PMID:10823886   PMID:10887185   PMID:11163210   PMID:11278251   PMID:11483516   PMID:11737269   PMID:12023024   PMID:12118366   PMID:12151385   PMID:12202987   PMID:12397035   PMID:12407115  
PMID:12408818   PMID:12477932   PMID:12519765   PMID:12589052   PMID:12650946   PMID:12815042   PMID:12947087   PMID:12952364   PMID:14657019   PMID:14718519   PMID:14728725   PMID:14988821  
PMID:14993265   PMID:15023526   PMID:15033458   PMID:15033661   PMID:15075243   PMID:15128733   PMID:15132952   PMID:15148321   PMID:15221015   PMID:15231748   PMID:15342556   PMID:15359284  
PMID:15489334   PMID:15496141   PMID:15498852   PMID:15529348   PMID:15579469   PMID:15621726   PMID:15632190   PMID:15684397   PMID:15708859   PMID:15736400   PMID:15750622   PMID:15761153  
PMID:15788410   PMID:15811425   PMID:15811853   PMID:15817471   PMID:15820682   PMID:15831498   PMID:15831516   PMID:15877825   PMID:15922743   PMID:15946939   PMID:16007121   PMID:16027725  
PMID:16061177   PMID:16179804   PMID:16187293   PMID:16260615   PMID:16285943   PMID:16288847   PMID:16344560   PMID:16362038   PMID:16442497   PMID:16601693   PMID:16641086   PMID:16690609  
PMID:16714330   PMID:16718778   PMID:16720724   PMID:17009056   PMID:17098745   PMID:17172861   PMID:17230494   PMID:17314099   PMID:17332363   PMID:17377371   PMID:17384642   PMID:17438144  
PMID:17510063   PMID:17657819   PMID:17704440   PMID:17928287   PMID:17931948   PMID:17934461   PMID:18029348   PMID:18041647   PMID:18163503   PMID:18231913   PMID:18372901   PMID:18372905  
PMID:18445023   PMID:18448069   PMID:18593713   PMID:18616749   PMID:18683731   PMID:18684712   PMID:18762808   PMID:18952608   PMID:19018011   PMID:19032343   PMID:19192480   PMID:19288000  
PMID:19341727   PMID:19352540   PMID:19357349   PMID:19395656   PMID:19505925   PMID:19562778   PMID:19624886   PMID:19693466   PMID:19730683   PMID:19758997   PMID:19843678   PMID:19861282  
PMID:19875456   PMID:19878580   PMID:19885573   PMID:20040761   PMID:20124488   PMID:20165854   PMID:20200978   PMID:20354004   PMID:20416076   PMID:20437058   PMID:20501757   PMID:20514018  
PMID:20530476   PMID:20551054   PMID:20638935   PMID:20648012   PMID:20658468   PMID:20659471   PMID:20663871   PMID:20734064   PMID:20738806   PMID:20819778   PMID:20863724   PMID:20937913  
PMID:21054221   PMID:21071539   PMID:21075068   PMID:21221812   PMID:21258410   PMID:21445336   PMID:21761138   PMID:21791611   PMID:21873635   PMID:21883230   PMID:21900845   PMID:21910156  
PMID:21931165   PMID:22028324   PMID:22033246   PMID:22152476   PMID:22229264   PMID:22232431   PMID:22286770   PMID:22344298   PMID:22457752   PMID:22496417   PMID:22624557   PMID:22641218  
PMID:22751114   PMID:22773947   PMID:22841502   PMID:22876112   PMID:22921829   PMID:23027871   PMID:23034881   PMID:23049692   PMID:23064961   PMID:23104301   PMID:23128233   PMID:23244128  
PMID:23255602   PMID:23258148   PMID:23266556   PMID:23390194   PMID:23435373   PMID:23455153   PMID:23472153   PMID:23530056   PMID:23560096   PMID:23567938   PMID:23610558   PMID:23625826  
PMID:23747528   PMID:23781096   PMID:23804438   PMID:23949881   PMID:23959799   PMID:23973329   PMID:23998914   PMID:24039762   PMID:24066093   PMID:24090133   PMID:24162774   PMID:24259667  
PMID:24317436   PMID:24343358   PMID:24345480   PMID:24369345   PMID:24394555   PMID:24448986   PMID:24480808   PMID:24556688   PMID:24557062   PMID:24584437   PMID:24636138   PMID:24641900  
PMID:24659668   PMID:24700460   PMID:24752577   PMID:24836286   PMID:24850914   PMID:24887517   PMID:24935472   PMID:24939309   PMID:24969865   PMID:25060766   PMID:25107916   PMID:25149540  
PMID:25207745   PMID:25283809   PMID:25333457   PMID:25375357   PMID:25501551   PMID:25518932   PMID:25540364   PMID:25554686   PMID:25640388   PMID:25867271   PMID:25983322   PMID:26055326  
PMID:26071245   PMID:26278416   PMID:26303523   PMID:26390174   PMID:26435193   PMID:26445225   PMID:26555259   PMID:26579801   PMID:26608417   PMID:26651974   PMID:26679521   PMID:26701726  
PMID:26759305   PMID:26779637   PMID:26818761   PMID:26856334   PMID:26859364   PMID:26892629   PMID:26982322   PMID:26989026   PMID:26997760   PMID:27185036   PMID:27192628   PMID:27292644  
PMID:27303812   PMID:27473823   PMID:27572168   PMID:27609421   PMID:27619676   PMID:27628042   PMID:27703004   PMID:27861825   PMID:27996004   PMID:28070019   PMID:28108300   PMID:28192117  
PMID:28218435   PMID:28292929   PMID:28300830   PMID:28349818   PMID:28374902   PMID:28381482   PMID:28400336   PMID:28467803   PMID:28498453   PMID:28732737   PMID:28874583   PMID:29044425  
PMID:29084532   PMID:29117538   PMID:29235476   PMID:29366786   PMID:29433423   PMID:29433908   PMID:29886060   PMID:30076393   PMID:30147698   PMID:30158641   PMID:30177817   PMID:30275229  
PMID:30315770   PMID:30338786   PMID:30342000   PMID:30450102   PMID:30545440   PMID:30594253   PMID:30611100   PMID:30653987   PMID:30861602   PMID:30862693   PMID:30945288   PMID:30946881  
PMID:30973065   PMID:30980801   PMID:31039140   PMID:31146975   PMID:31148365   PMID:31243343   PMID:31264769   PMID:31546607   PMID:31554487   PMID:31746425   PMID:31767934   PMID:31774554  
PMID:31815762   PMID:31941699   PMID:32096163   PMID:32114253   PMID:32141555   PMID:32143362   PMID:32283253   PMID:32286456   PMID:32307790   PMID:32319077   PMID:32323793   PMID:32324875  
PMID:32622014   PMID:32648079   PMID:32705254   PMID:32856881   PMID:32899503   PMID:32916597   PMID:32945396   PMID:33006314   PMID:33076905   PMID:33186807   PMID:33236602   PMID:33241676  
PMID:33253708   PMID:33368437   PMID:33375423   PMID:33436154   PMID:33475023   PMID:33512737   PMID:33588941   PMID:33739023   PMID:33780363   PMID:33920230   PMID:33938174   PMID:33961781  
PMID:34026434   PMID:34061176   PMID:34254453   PMID:34370213   PMID:34551139   PMID:34717960   PMID:34775378   PMID:35016683   PMID:35041343   PMID:35332268   PMID:35484112   PMID:35748872  
PMID:35795857   PMID:36213818   PMID:36263180   PMID:36377587   PMID:36607878   PMID:36690223   PMID:36845150   PMID:37376985   PMID:37382248   PMID:37611637   PMID:37713818   PMID:37721570  
PMID:37851987   PMID:37882714   PMID:38146644   PMID:38177245   PMID:38287200  


Genomics

Comparative Map Data
SMAD7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381848,919,853 - 48,950,965 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1848,919,853 - 48,950,965 (-)EnsemblGRCh38hg38GRCh38
GRCh371846,446,223 - 46,477,335 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361844,700,221 - 44,731,079 (-)NCBINCBI36Build 36hg18NCBI36
Build 341844,700,221 - 44,731,079NCBI
Celera1843,299,268 - 43,330,141 (-)NCBICelera
Cytogenetic Map18q21.1NCBI
HuRef1843,299,249 - 43,329,936 (-)NCBIHuRef
CHM1_11846,441,162 - 46,472,026 (-)NCBICHM1_1
T2T-CHM13v2.01849,115,112 - 49,146,228 (-)NCBIT2T-CHM13v2.0
Smad7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391875,500,436 - 75,529,006 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1875,500,600 - 75,529,006 (+)EnsemblGRCm39 Ensembl
GRCm381875,367,365 - 75,395,935 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1875,367,529 - 75,395,935 (+)EnsemblGRCm38mm10GRCm38
MGSCv371875,527,019 - 75,555,588 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361875,492,894 - 75,521,292 (+)NCBIMGSCv36mm8
Celera1876,602,062 - 76,630,688 (+)NCBICelera
Cytogenetic Map18E3NCBI
cM Map1851.06NCBI
Smad7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81871,263,508 - 71,291,849 (+)NCBIGRCr8
mRatBN7.21868,988,429 - 69,016,774 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1868,988,429 - 69,016,765 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1871,094,956 - 71,123,284 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01871,764,762 - 71,793,114 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01869,620,987 - 69,649,318 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01871,395,830 - 71,424,164 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1871,395,830 - 71,424,157 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01870,530,559 - 70,558,932 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41872,294,803 - 72,323,354 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11872,368,075 - 72,396,625 (+)NCBI
Celera1867,155,575 - 67,183,461 (+)NCBICelera
Cytogenetic Map18q12.2NCBI
Smad7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540234,028,063 - 34,058,291 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540234,028,184 - 34,058,949 (-)NCBIChiLan1.0ChiLan1.0
SMAD7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21766,454,709 - 66,485,922 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11852,147,312 - 52,178,129 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01842,306,324 - 42,337,214 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11845,659,375 - 45,689,505 (-)NCBIpanpan1.1PanPan1.1panPan2
SMAD7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1779,706,485 - 79,734,673 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl779,706,705 - 79,734,749 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha779,113,271 - 79,142,567 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0779,776,182 - 79,805,641 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl779,776,387 - 79,805,516 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1779,490,141 - 79,519,361 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0779,520,644 - 79,548,552 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0779,805,995 - 79,834,706 (+)NCBIUU_Cfam_GSD_1.0
Smad7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494438,655,545 - 38,682,943 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649713,894,580 - 13,922,065 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493649713,894,586 - 13,921,978 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SMAD7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl198,514,267 - 98,542,382 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1198,512,800 - 98,543,924 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21108,087,677 - 108,118,319 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SMAD7
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11831,993,543 - 32,024,088 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1831,993,681 - 32,024,850 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660506,227,954 - 6,258,760 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Smad7
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477812,415,282 - 12,444,835 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477812,415,364 - 12,444,882 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SMAD7
56 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005904.4(SMAD7):c.743-5183= single nucleotide variant Colorectal cancer, susceptibility to, 3 [RCV000007117] Chr18:48927093 [GRCh38]
Chr18:46453463 [GRCh37]
Chr18:18q21.1
risk factor
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3 copy number gain See cases [RCV000052543] Chr18:20960320..80234429 [GRCh38]
Chr18:18540281..77992312 [GRCh37]
Chr18:16794279..76093303 [NCBI36]
Chr18:18q11.1-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3 copy number gain See cases [RCV000052549] Chr18:20989762..80209986 [GRCh38]
Chr18:18569723..77967869 [GRCh37]
Chr18:16823721..76068860 [NCBI36]
Chr18:18q11.1-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q12.1-22.1(chr18:29249202-65448117)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|See cases [RCV000052563] Chr18:29249202..65448117 [GRCh38]
Chr18:26829167..63115353 [GRCh37]
Chr18:25083165..61266333 [NCBI36]
Chr18:18q12.1-22.1
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23
pathogenic
NM_005904.3(SMAD7):c.953G>A (p.Gly318Asp) single nucleotide variant Malignant melanoma [RCV000071834] Chr18:48921700 [GRCh38]
Chr18:46448070 [GRCh37]
Chr18:44702068 [NCBI36]
Chr18:18q21.1
not provided
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3 copy number gain See cases [RCV000136910] Chr18:38794728..65632804 [GRCh38]
Chr18:36374692..63300040 [GRCh37]
Chr18:34628690..61451020 [NCBI36]
Chr18:18q12.2-22.1
pathogenic
GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3 copy number gain See cases [RCV000136890] Chr18:32123105..80252149 [GRCh38]
Chr18:29703068..78010032 [GRCh37]
Chr18:27957066..76111023 [NCBI36]
Chr18:18q12.1-23
pathogenic
GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3 copy number gain See cases [RCV000138034] Chr18:42651392..80254946 [GRCh38]
Chr18:40231357..78012829 [GRCh37]
Chr18:38485355..76113817 [NCBI36]
Chr18:18q12.3-23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23
pathogenic|conflicting data from submitters
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3 copy number gain See cases [RCV000142227] Chr18:40367455..80256240 [GRCh38]
Chr18:37947419..78014123 [GRCh37]
Chr18:36201417..76115097 [NCBI36]
Chr18:18q12.3-23
pathogenic
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3 copy number gain See cases [RCV000143057] Chr18:20962119..74691446 [GRCh38]
Chr18:18542080..72403402 [GRCh37]
Chr18:16796078..70532390 [NCBI36]
Chr18:18q11.1-22.3
pathogenic
GRCh38/hg38 18q12.3-21.1(chr18:41722823-49043887)x1 copy number loss See cases [RCV000142696] Chr18:41722823..49043887 [GRCh38]
Chr18:39302787..46570257 [GRCh37]
Chr18:37556785..44824255 [NCBI36]
Chr18:18q12.3-21.1
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3 copy number gain See cases [RCV000240476] Chr18:18548019..77954165 [GRCh37]
Chr18:18q11.1-23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3 copy number gain See cases [RCV000512081] Chr18:33417216..78014123 [GRCh37]
Chr18:18q12.2-23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3 copy number gain See cases [RCV000511394] Chr18:43776770..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3 copy number gain See cases [RCV000511734] Chr18:18521285..64495798 [GRCh37]
Chr18:18q11.1-22.1
pathogenic
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3 copy number gain See cases [RCV000512030] Chr18:14869204..78014123 [GRCh37]
Chr18:18p11.21-q23
pathogenic
GRCh37/hg19 18q21.1-23(chr18:46177798-78014123)x1 copy number loss See cases [RCV000511759] Chr18:46177798..78014123 [GRCh37]
Chr18:18q21.1-23
pathogenic
GRCh37/hg19 18q11.2-21.1(chr18:24835114-46917217)x3 copy number gain See cases [RCV000511124] Chr18:24835114..46917217 [GRCh37]
Chr18:18q11.2-21.1
likely benign
GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3 copy number gain See cases [RCV000511203] Chr18:42930373..78014123 [GRCh37]
Chr18:18q12.3-23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23
pathogenic
NM_005904.4(SMAD7):c.34C>A (p.Arg12Ser) single nucleotide variant Inborn genetic diseases [RCV003259409] Chr18:48950391 [GRCh38]
Chr18:46476761 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_005904.4(SMAD7):c.163C>G (p.Pro55Ala) single nucleotide variant Inborn genetic diseases [RCV003302451] Chr18:48950262 [GRCh38]
Chr18:46476632 [GRCh37]
Chr18:18q21.1
likely benign
NM_005904.4(SMAD7):c.1114G>A (p.Glu372Lys) single nucleotide variant Inborn genetic diseases [RCV003243693] Chr18:48921539 [GRCh38]
Chr18:46447909 [GRCh37]
Chr18:18q21.1
uncertain significance
GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3 copy number gain See cases [RCV000512425] Chr18:31879854..78014123 [GRCh37]
Chr18:18q12.1-23
pathogenic
GRCh37/hg19 18q12.2-21.31(chr18:35866313-55082983)x3 copy number gain not provided [RCV000684057] Chr18:35866313..55082983 [GRCh37]
Chr18:18q12.2-21.31
pathogenic
GRCh37/hg19 18q21.1(chr18:46379232-46778031)x3 copy number gain not provided [RCV000683995] Chr18:46379232..46778031 [GRCh37]
Chr18:18q21.1
uncertain significance
GRCh37/hg19 18q11.1-21.2(chr18:18539806-49926444)x2 copy number gain not provided [RCV000739776] Chr18:18539806..49926444 [GRCh37]
Chr18:18q11.1-21.2
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23
pathogenic
NM_005904.4(SMAD7):c.624C>T (p.Pro208=) single nucleotide variant not provided [RCV000968964] Chr18:48948427 [GRCh38]
Chr18:46474797 [GRCh37]
Chr18:18q21.1
benign
NM_005904.4(SMAD7):c.244G>A (p.Ala82Thr) single nucleotide variant Inborn genetic diseases [RCV003243620] Chr18:48950181 [GRCh38]
Chr18:46476551 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_005904.4(SMAD7):c.115G>A (p.Gly39Arg) single nucleotide variant not provided [RCV000891626] Chr18:48950310 [GRCh38]
Chr18:46476680 [GRCh37]
Chr18:18q21.1
benign
GRCh37/hg19 18q21.1-21.33(chr18:45621155-61416536)x3 copy number gain not provided [RCV000847118] Chr18:45621155..61416536 [GRCh37]
Chr18:18q21.1-21.33
pathogenic
NM_005904.4(SMAD7):c.184C>T (p.Leu62=) single nucleotide variant not provided [RCV000920134] Chr18:48950241 [GRCh38]
Chr18:46476611 [GRCh37]
Chr18:18q21.1
likely benign
GRCh37/hg19 18q21.1(chr18:44619805-46854791)x3 copy number gain not provided [RCV000847739] Chr18:44619805..46854791 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_005904.4(SMAD7):c.1086C>T (p.Pro362=) single nucleotide variant not provided [RCV000887255] Chr18:48921567 [GRCh38]
Chr18:46447937 [GRCh37]
Chr18:18q21.1
benign
NM_005904.4(SMAD7):c.624C>A (p.Pro208=) single nucleotide variant SMAD7-related condition [RCV003955904]|not provided [RCV000885432] Chr18:48948427 [GRCh38]
Chr18:46474797 [GRCh37]
Chr18:18q21.1
benign
GRCh37/hg19 18q21.1(chr18:46379233-46777416)x3 copy number gain not provided [RCV002473538] Chr18:46379233..46777416 [GRCh37]
Chr18:18q21.1
uncertain significance
GRCh37/hg19 18q11.2-21.2(chr18:20689919-49455212)x3 copy number gain not provided [RCV001006980] Chr18:20689919..49455212 [GRCh37]
Chr18:18q11.2-21.2
pathogenic
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) copy number gain Trisomy 18 [RCV002280660] Chr18:1..78077248 [GRCh37]
Chr18:18p11.32-q23
pathogenic
NM_005904.4(SMAD7):c.713C>T (p.Thr238Met) single nucleotide variant Hereditary breast ovarian cancer syndrome [RCV001374531] Chr18:48942510 [GRCh38]
Chr18:46468880 [GRCh37]
Chr18:18q21.1
uncertain significance
Single allele deletion Intellectual disability [RCV001787257] Chr18:1262336..53254747 [GRCh37]
Chr18:18p11.32-q21.2
pathogenic
GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3 copy number gain not provided [RCV001537911] Chr18:23626739..78014976 [GRCh37]
Chr18:18q11.2-23
pathogenic
NM_005904.4(SMAD7):c.1062G>A (p.Thr354=) single nucleotide variant not provided [RCV001357759] Chr18:48921591 [GRCh38]
Chr18:46447961 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_005904.4(SMAD7):c.625C>A (p.Pro209Thr) single nucleotide variant not specified [RCV001733631] Chr18:48948426 [GRCh38]
Chr18:46474796 [GRCh37]
Chr18:18q21.1
uncertain significance
GRCh37/hg19 18q21.1(chr18:46379233-46642420)x3 copy number gain not provided [RCV001832994] Chr18:46379233..46642420 [GRCh37]
Chr18:18q21.1
uncertain significance
GRCh37/hg19 18q21.1(chr18:46379232-46778034) copy number gain not specified [RCV002052633] Chr18:46379232..46778034 [GRCh37]
Chr18:18q21.1
uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) copy number gain not specified [RCV002052616] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23
pathogenic
NC_000018.9:g.(?_46450976)_(46690177_?)dup duplication not provided [RCV003119780] Chr18:46450976..46690177 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_005904.4(SMAD7):c.1166C>T (p.Pro389Leu) single nucleotide variant Inborn genetic diseases [RCV003285251] Chr18:48921487 [GRCh38]
Chr18:46447857 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_005904.4(SMAD7):c.1033G>A (p.Ala345Thr) single nucleotide variant Inborn genetic diseases [RCV002902774] Chr18:48921620 [GRCh38]
Chr18:46447990 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_005904.4(SMAD7):c.388G>A (p.Gly130Ser) single nucleotide variant Inborn genetic diseases [RCV002753303] Chr18:48950037 [GRCh38]
Chr18:46476407 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_005904.4(SMAD7):c.211G>T (p.Gly71Cys) single nucleotide variant Inborn genetic diseases [RCV002950014] Chr18:48950214 [GRCh38]
Chr18:46476584 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_005904.4(SMAD7):c.103G>A (p.Gly35Ser) single nucleotide variant Inborn genetic diseases [RCV002826442] Chr18:48950322 [GRCh38]
Chr18:46476692 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_005904.4(SMAD7):c.688C>A (p.Pro230Thr) single nucleotide variant Inborn genetic diseases [RCV002742349] Chr18:48942535 [GRCh38]
Chr18:46468905 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_005904.4(SMAD7):c.262G>A (p.Ala88Thr) single nucleotide variant Inborn genetic diseases [RCV002708819] Chr18:48950163 [GRCh38]
Chr18:46476533 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_005904.4(SMAD7):c.88G>A (p.Gly30Arg) single nucleotide variant Inborn genetic diseases [RCV002955652] Chr18:48950337 [GRCh38]
Chr18:46476707 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_005904.4(SMAD7):c.254C>T (p.Ala85Val) single nucleotide variant Inborn genetic diseases [RCV002742389] Chr18:48950171 [GRCh38]
Chr18:46476541 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_005904.4(SMAD7):c.220C>A (p.His74Asn) single nucleotide variant Inborn genetic diseases [RCV002813566] Chr18:48950205 [GRCh38]
Chr18:46476575 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_005904.4(SMAD7):c.78G>C (p.Glu26Asp) single nucleotide variant Inborn genetic diseases [RCV002813186] Chr18:48950347 [GRCh38]
Chr18:46476717 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_005904.4(SMAD7):c.482A>G (p.Lys161Arg) single nucleotide variant Inborn genetic diseases [RCV002920143] Chr18:48949943 [GRCh38]
Chr18:46476313 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_005904.4(SMAD7):c.166G>A (p.Gly56Ser) single nucleotide variant Colorectal cancer, susceptibility to, 3 [RCV003225778]|Inborn genetic diseases [RCV002748582] Chr18:48950259 [GRCh38]
Chr18:46476629 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_005904.4(SMAD7):c.433C>A (p.Gln145Lys) single nucleotide variant Inborn genetic diseases [RCV003208054] Chr18:48949992 [GRCh38]
Chr18:46476362 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_005904.4(SMAD7):c.133A>G (p.Ser45Gly) single nucleotide variant Inborn genetic diseases [RCV003302450] Chr18:48950292 [GRCh38]
Chr18:46476662 [GRCh37]
Chr18:18q21.1
likely benign
NM_005904.4(SMAD7):c.251C>T (p.Ala84Val) single nucleotide variant Inborn genetic diseases [RCV003302452] Chr18:48950174 [GRCh38]
Chr18:46476544 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_005904.4(SMAD7):c.430G>T (p.Ala144Ser) single nucleotide variant Inborn genetic diseases [RCV003302454] Chr18:48949995 [GRCh38]
Chr18:46476365 [GRCh37]
Chr18:18q21.1
likely benign
NM_005904.4(SMAD7):c.85G>T (p.Gly29Trp) single nucleotide variant Inborn genetic diseases [RCV003302455] Chr18:48950340 [GRCh38]
Chr18:46476710 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_005904.4(SMAD7):c.55C>G (p.Pro19Ala) single nucleotide variant Inborn genetic diseases [RCV003210188] Chr18:48950370 [GRCh38]
Chr18:46476740 [GRCh37]
Chr18:18q21.1
uncertain significance
NM_005904.4(SMAD7):c.413C>T (p.Pro138Leu) single nucleotide variant Inborn genetic diseases [RCV003283859] Chr18:48950012 [GRCh38]
Chr18:46476382 [GRCh37]
Chr18:18q21.1
likely benign
NM_005904.4(SMAD7):c.625C>T (p.Pro209Ser) single nucleotide variant Inborn genetic diseases [RCV003220977] Chr18:48948426 [GRCh38]
Chr18:46474796 [GRCh37]
Chr18:18q21.1
uncertain significance
GRCh37/hg19 18q12.2-21.1(chr18:33793283-46823898)x1 copy number loss not specified [RCV003987274] Chr18:33793283..46823898 [GRCh37]
Chr18:18q12.2-21.1
pathogenic
NM_005904.4(SMAD7):c.234A>G (p.Pro78=) single nucleotide variant SMAD7-related condition [RCV003931508] Chr18:48950191 [GRCh38]
Chr18:46476561 [GRCh37]
Chr18:18q21.1
benign
NM_005904.4(SMAD7):c.668-21C>T single nucleotide variant SMAD7-related condition [RCV003974443] Chr18:48942576 [GRCh38]
Chr18:46468946 [GRCh37]
Chr18:18q21.1
benign
NM_005904.4(SMAD7):c.87G>C (p.Gly29=) single nucleotide variant SMAD7-related condition [RCV003946940] Chr18:48950338 [GRCh38]
Chr18:46476708 [GRCh37]
Chr18:18q21.1
likely benign
NM_005904.4(SMAD7):c.*5G>A single nucleotide variant SMAD7-related condition [RCV003981504] Chr18:48921367 [GRCh38]
Chr18:46447737 [GRCh37]
Chr18:18q21.1
likely benign
NM_005904.4(SMAD7):c.186G>A (p.Leu62=) single nucleotide variant SMAD7-related condition [RCV003911526] Chr18:48950239 [GRCh38]
Chr18:46476609 [GRCh37]
Chr18:18q21.1
likely benign
NM_005904.4(SMAD7):c.667+8G>A single nucleotide variant SMAD7-related condition [RCV003977307] Chr18:48948376 [GRCh38]
Chr18:46474746 [GRCh37]
Chr18:18q21.1
likely benign
NM_005904.4(SMAD7):c.255C>T (p.Ala85=) single nucleotide variant SMAD7-related condition [RCV003906875] Chr18:48950170 [GRCh38]
Chr18:46476540 [GRCh37]
Chr18:18q21.1
likely benign
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR25hsa-miR-25-3pMirtarbaseexternal_infoLuciferase reporter assayFunctional MTI23435373
MIR25hsa-miR-25-3pOncomiRDBexternal_infoNANA23435373
MIR21hsa-miR-21-5pMirtarbaseexternal_infoqRT-PCR//Western blotFunctional MTI23292313

Predicted Target Of
Summary Value
Count of predictions:2743
Count of miRNA genes:886
Interacting mature miRNAs:1041
Transcripts:ENST00000262158, ENST00000545051, ENST00000585986, ENST00000586093, ENST00000587336, ENST00000588190, ENST00000589634, ENST00000591805
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
SHGC-147306  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371846,456,132 - 46,456,419UniSTSGRCh37
Build 361844,710,130 - 44,710,417RGDNCBI36
Celera1843,309,193 - 43,309,480RGD
Cytogenetic Map18q21.1UniSTS
HuRef1843,309,177 - 43,309,464UniSTS
TNG Radiation Hybrid Map1818367.0UniSTS
SHGC-148875  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371846,472,425 - 46,472,704UniSTSGRCh37
Build 361844,726,423 - 44,726,702RGDNCBI36
Celera1843,325,485 - 43,325,764RGD
Cytogenetic Map18q21.1UniSTS
HuRef1843,325,470 - 43,325,749UniSTS
TNG Radiation Hybrid Map1818374.0UniSTS
PMC193708P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371846,478,264 - 46,478,395UniSTSGRCh37
Build 361844,732,262 - 44,732,393RGDNCBI36
Celera1843,331,320 - 43,331,451RGD
Cytogenetic Map18q21.1UniSTS
PMC193708P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371846,474,919 - 46,475,022UniSTSGRCh37
Build 361844,728,917 - 44,729,020RGDNCBI36
Celera1843,327,979 - 43,328,082RGD
Cytogenetic Map18q21.1UniSTS
HuRef1843,327,963 - 43,328,066UniSTS
Smad7  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371846,474,787 - 46,476,325UniSTSGRCh37
Celera1843,327,847 - 43,329,385UniSTS
HuRef1843,327,831 - 43,329,369UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High 1
Medium 2284 2048 1287 267 981 161 3520 1334 2148 353 1006 1514 116 1203 2181 4
Low 148 903 436 355 903 303 835 859 1560 65 442 93 54 1 607
Below cutoff 4 36 1 60 1 1 12 1 4 4 4 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001190821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001190822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001190823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC114684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF010193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF015261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF156731 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH011391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074818 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP363832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA882147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000262158   ⟹   ENSP00000262158
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1848,919,853 - 48,950,965 (-)Ensembl
RefSeq Acc Id: ENST00000545051
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1848,920,027 - 48,942,807 (-)Ensembl
RefSeq Acc Id: ENST00000585986
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1848,921,501 - 48,942,732 (-)Ensembl
RefSeq Acc Id: ENST00000586093   ⟹   ENSP00000465590
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1848,921,534 - 48,948,505 (-)Ensembl
RefSeq Acc Id: ENST00000587336
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1848,921,411 - 48,930,182 (-)Ensembl
RefSeq Acc Id: ENST00000588190
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1848,921,641 - 48,933,722 (-)Ensembl
RefSeq Acc Id: ENST00000589634   ⟹   ENSP00000467621
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1848,921,372 - 48,950,424 (-)Ensembl
RefSeq Acc Id: ENST00000591805   ⟹   ENSP00000466902
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1848,920,993 - 48,949,333 (-)Ensembl
RefSeq Acc Id: NM_001190821   ⟹   NP_001177750
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381848,919,853 - 48,950,965 (-)NCBI
GRCh371846,446,223 - 46,477,081 (-)ENTREZGENE
HuRef1843,299,249 - 43,329,936 (-)ENTREZGENE
CHM1_11846,441,162 - 46,472,026 (-)NCBI
T2T-CHM13v2.01849,115,112 - 49,146,228 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001190822   ⟹   NP_001177751
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381848,919,853 - 48,949,333 (-)NCBI
GRCh371846,446,223 - 46,477,081 (-)ENTREZGENE
HuRef1843,299,249 - 43,329,936 (-)ENTREZGENE
CHM1_11846,441,162 - 46,470,648 (-)NCBI
T2T-CHM13v2.01849,115,112 - 49,144,596 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001190823   ⟹   NP_001177752
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381848,919,853 - 48,942,807 (-)NCBI
GRCh371846,446,223 - 46,477,081 (-)ENTREZGENE
HuRef1843,299,249 - 43,329,936 (-)ENTREZGENE
CHM1_11846,441,162 - 46,464,120 (-)NCBI
T2T-CHM13v2.01849,115,112 - 49,138,070 (-)NCBI
Sequence:
RefSeq Acc Id: NM_005904   ⟹   NP_005895
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381848,919,853 - 48,950,965 (-)NCBI
GRCh371846,446,223 - 46,477,081 (-)ENTREZGENE
Build 361844,700,221 - 44,731,079 (-)NCBI Archive
HuRef1843,299,249 - 43,329,936 (-)ENTREZGENE
CHM1_11846,441,162 - 46,472,026 (-)NCBI
T2T-CHM13v2.01849,115,112 - 49,146,228 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047437509   ⟹   XP_047293465
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381848,919,853 - 48,949,333 (-)NCBI
RefSeq Acc Id: XM_054318623   ⟹   XP_054174598
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01849,115,112 - 49,144,596 (-)NCBI
RefSeq Acc Id: NP_001177750   ⟸   NM_001190821
- Peptide Label: isoform 2
- UniProtKB: O15105 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_005895   ⟸   NM_005904
- Peptide Label: isoform 1
- UniProtKB: O14740 (UniProtKB/Swiss-Prot),   K7EQ10 (UniProtKB/Swiss-Prot),   B7Z773 (UniProtKB/Swiss-Prot),   Q6DK23 (UniProtKB/Swiss-Prot),   O15105 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001177751   ⟸   NM_001190822
- Peptide Label: isoform 3
- UniProtKB: O15105 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001177752   ⟸   NM_001190823
- Peptide Label: isoform 4
- UniProtKB: B3KYA8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000465590   ⟸   ENST00000586093
RefSeq Acc Id: ENSP00000467621   ⟸   ENST00000589634
RefSeq Acc Id: ENSP00000262158   ⟸   ENST00000262158
RefSeq Acc Id: ENSP00000466902   ⟸   ENST00000591805
RefSeq Acc Id: XP_047293465   ⟸   XM_047437509
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054174598   ⟸   XM_054318623
- Peptide Label: isoform X1
Protein Domains
MH1   MH2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O15105-F1-model_v2 AlphaFold O15105 1-426 view protein structure

Promoters
RGD ID:6811459
Promoter ID:HG_ACW:38179
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:SMAD7.GAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361844,713,961 - 44,714,467 (-)MPROMDB
RGD ID:6795008
Promoter ID:HG_KWN:27995
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:UC002LDF.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361844,723,066 - 44,723,627 (-)MPROMDB
RGD ID:6795006
Promoter ID:HG_KWN:27996
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_005904
Position:
Human AssemblyChrPosition (strand)Source
Build 361844,730,226 - 44,731,532 (-)MPROMDB
RGD ID:7237295
Promoter ID:EPDNEW_H24392
Type:initiation region
Name:SMAD7_1
Description:SMAD family member 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381848,950,749 - 48,950,809EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6773 AgrOrtholog
COSMIC SMAD7 COSMIC
Ensembl Genes ENSG00000101665 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000262158 ENTREZGENE
  ENST00000262158.8 UniProtKB/Swiss-Prot
  ENST00000545051 ENTREZGENE
  ENST00000586093.1 UniProtKB/TrEMBL
  ENST00000589634 ENTREZGENE
  ENST00000589634.1 UniProtKB/Swiss-Prot
  ENST00000591805 ENTREZGENE
  ENST00000591805.5 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.200.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.520.10 UniProtKB/Swiss-Prot
GTEx ENSG00000101665 GTEx
HGNC ID HGNC:6773 ENTREZGENE
Human Proteome Map SMAD7 Human Proteome Map
InterPro Dwarfin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MAD_homology1_Dwarfin-type UniProtKB/Swiss-Prot
  MAD_homology_MH1 UniProtKB/Swiss-Prot
  SMAD-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SMAD_dom_Dwarfin-type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SMAD_FHA_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SMAD_MH1_sf UniProtKB/Swiss-Prot
KEGG Report hsa:4092 UniProtKB/Swiss-Prot
NCBI Gene 4092 ENTREZGENE
OMIM 602932 OMIM
PANTHER MOTHERS AGAINST DECAPENTAPLEGIC HOMOLOG 7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR13703 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam MH1 UniProtKB/Swiss-Prot
  MH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134875286 PharmGKB
PROSITE MH1 UniProtKB/Swiss-Prot
  MH2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DWA UniProtKB/Swiss-Prot
  DWB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49879 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56366 UniProtKB/Swiss-Prot
UniProt B3KYA8 ENTREZGENE, UniProtKB/TrEMBL
  B7Z773 ENTREZGENE
  K7EKF0_HUMAN UniProtKB/TrEMBL
  K7EQ10 ENTREZGENE
  O14740 ENTREZGENE
  O15105 ENTREZGENE
  Q6DK23 ENTREZGENE
  SMAD7_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B7Z773 UniProtKB/Swiss-Prot
  K7EQ10 UniProtKB/Swiss-Prot
  O14740 UniProtKB/Swiss-Prot
  Q6DK23 UniProtKB/Swiss-Prot