Smad4 (SMAD family member 4) - Rat Genome Database

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Gene: Smad4 (SMAD family member 4) Mus musculus
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Symbol: Smad4
Name: SMAD family member 4
RGD ID: 69092
MGI Page MGI
Description: Enables several functions, including DNA-binding transcription activator activity, RNA polymerase II-specific; collagen binding activity; and identical protein binding activity. Involved in several processes, including cell surface receptor protein serine/threonine kinase signaling pathway; heart development; and regulation of DNA-templated transcription. Acts upstream of or within several processes, including positive regulation of gonadotropin secretion; regulation of DNA-templated transcription; and reproductive structure development. Located in cytoplasm and nucleus. Part of RNA polymerase II transcription regulator complex. Is expressed in several structures, including central nervous system; early conceptus; genitourinary system; jaw; and respiratory system. Used to study colorectal cancer; juvenile polyposis syndrome; and osteogenesis imperfecta. Human ortholog(s) of this gene implicated in several diseases, including female reproductive organ cancer (multiple); hereditary hemorrhagic telangiectasia; juvenile polyposis syndrome; juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome; and seminoma. Orthologous to human SMAD4 (SMAD family member 4).
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: AW743858; D18Wsu70; D18Wsu70e; deletion target in pancreatic carcinoma 4 homolog; DPC; DPC4; expressed sequence AW743858; MAD homolog 4; Madh; Madh4; mothers against decapentaplegic homolog 4; mothers against DPP homolog 4; Smad 4
RGD Orthologs
Human
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCm39 - Mouse Genome Assembly GRCm39
Position:
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391873,767,861 - 73,836,862 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1873,772,080 - 73,836,851 (-)EnsemblGRCm39 Ensembl
GRCm381873,634,790 - 73,703,791 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1873,639,009 - 73,703,780 (-)EnsemblGRCm38mm10GRCm38
MGSCv371873,798,667 - 73,863,395 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361873,764,382 - 73,829,110 (-)NCBIMGSCv36mm8
Celera1874,884,056 - 74,923,073 (-)NCBICelera
Cytogenetic Map18E2NCBI
cM Map1849.51NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
17-beta hydroxysteroid dehydrogenase 3 deficiency  (ISO)
Acro-Osteolysis  (ISO)
aortic disease  (ISO)
brachydactyly  (ISO)
breast cancer  (ISO)
Breast Neoplasms  (ISO)
cervical cancer  (ISO)
cholangiocarcinoma  (ISO)
Chronic Hepatitis C  (ISO)
chronic myeloid leukemia  (ISO)
chronic obstructive pulmonary disease  (ISO)
Cicatrix  (ISO)
cognitive disorder  (ISO)
colon cancer  (ISO)
colon carcinoma  (ISO)
colorectal adenoma  (ISO)
colorectal cancer  (ISO)
colorectal carcinoma  (ISO)
Colorectal Neoplasms  (ISO)
Craniofacial Abnormalities  (ISO)
Cronkhite-Canada syndrome  (ISO)
Deafness  (ISO)
endometrial carcinoma  (ISO)
esophageal carcinoma  (ISO)
esophagus adenocarcinoma  (ISO)
Experimental Colitis  (IMP)
Experimental Liver Cirrhosis  (ISO)
Familial Pancreatic Carcinoma  (ISO)
gallbladder cancer  (ISO)
Gallstones  (ISO)
gastrointestinal system cancer  (ISO)
Growth Mental Deficiency Syndrome of Myhre  (ISO)
head and neck squamous cell carcinoma  (IMP)
hemorrhagic disease  (ISO)
hepatocellular carcinoma  (ISO)
hereditary breast ovarian cancer syndrome  (ISO)
hereditary hemorrhagic telangiectasia  (ISO)
Hereditary Hemorrhagic Telangiectasia, Type 1  (ISO)
Hereditary Neoplastic Syndromes  (ISO)
Heterotopic Ossification  (ISO)
Human Viral Hepatitis  (ISO)
Hypoglossal Nerve Injuries  (ISO)
intellectual disability  (ISO)
intrahepatic cholangiocarcinoma  (ISO)
invasive ductal carcinoma  (ISO)
juvenile polyposis syndrome  (IAGP,ISO)
juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome  (ISO)
Liver Metastasis  (ISO)
lung adenocarcinoma  (ISO)
lung cancer  (ISO)
Lymphatic Metastasis  (ISO)
Lynch syndrome  (ISO)
metabolic dysfunction-associated steatohepatitis  (IMP,ISO)
Microphthalmia, Cataracts, and Iris Abnormalities  (IMP)
muscular disease  (ISO)
myocardial infarction  (ISO)
Myocardial Reperfusion Injury  (ISO)
Neoplasm Metastasis  (ISO)
nephroblastoma  (ISO)
Odontogenic Cysts  (IMP)
osteogenesis imperfecta  (IAGP)
ovarian cancer  (ISO)
pancreatic cancer  (ISO)
pancreatic carcinoma  (ISO)
pancreatic ductal carcinoma  (ISO)
Parasitic Liver Diseases  (ISO)
pre-malignant neoplasm  (ISO)
primary pulmonary hypertension 1  (ISO)
prostate carcinoma in situ  (ISO)
Prostatic Neoplasms  (ISO)
prostatitis  (ISO)
Pulmonary Arterial Hypertension  (ISO)
pulmonary fibrosis  (ISO)
pulmonary hypertension  (ISO)
renal cell carcinoma  (ISO)
seminoma  (ISO)
stomach cancer  (ISO)
Stomach Neoplasms  (ISO)
thoracic aortic aneurysm  (ISO)
transitional cell carcinoma  (ISO)
type 2 diabetes mellitus  (ISO)
urinary bladder cancer  (ISO)
Uterine Cervical Neoplasms  (ISO)
vascular dementia  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-demecolcine  (ISO)
(-)-epigallocatechin 3-gallate  (EXP)
(1->4)-beta-D-glucan  (EXP)
(R,R,R)-alpha-tocopherol  (ISO)
1,2-dimethylhydrazine  (EXP,ISO)
1-[3-(dimethylamino)propyl]-1-(4-fluorophenyl)-1,3-dihydro-2-benzofuran-5-carbonitrile  (ISO)
17alpha-ethynylestradiol  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (ISO)
2,2,2-tetramine  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2-acetamidofluorene  (ISO)
2-methoxyethanol  (ISO)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-fluorouracil  (ISO)
6-propyl-2-thiouracil  (ISO)
acetaldehyde  (ISO)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP,ISO)
amlodipine  (ISO)
ammonium chloride  (ISO)
Aroclor 1254  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
bellidifolin  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol AF  (ISO)
bisphenol F  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
Candesartan cilexetil  (ISO)
carbamazepine  (ISO)
carbon nanotube  (EXP)
CGP 52608  (ISO)
chlordecone  (EXP)
chlorpyrifos  (EXP)
chromium atom  (ISO)
citalopram  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (ISO)
curcumin  (EXP,ISO)
cyclosporin A  (ISO)
D-glucose  (ISO)
DDE  (ISO)
deguelin  (ISO)
dexamethasone  (EXP)
dextran sulfate  (EXP)
dibenziodolium  (ISO)
Dibutyl phosphate  (ISO)
diclofenac  (ISO)
dimethyl sulfoxide  (ISO)
dorsomorphin  (ISO)
doxazosin  (ISO)
doxorubicin  (ISO)
enzyme inhibitor  (ISO)
escitalopram  (ISO)
ethanol  (EXP,ISO)
Evodiamine  (EXP,ISO)
farrerol  (ISO)
fenofibrate  (ISO)
folic acid  (EXP)
galangin  (ISO)
gallic acid  (ISO)
gentamycin  (ISO)
glucose  (ISO)
glycerol 2-phosphate  (EXP)
glycyrrhizinic acid  (ISO)
glyphosate  (ISO)
icariin  (EXP)
Isoangustone A  (ISO)
ivermectin  (ISO)
L-ascorbic acid  (EXP)
leptomycin B  (EXP)
lipopolysaccharide  (ISO)
manganese atom  (ISO)
manganese(0)  (ISO)
manganese(II) chloride  (ISO)
Methylazoxymethanol acetate  (ISO)
methylisothiazolinone  (ISO)
methylmercury chloride  (EXP,ISO)
monosodium L-glutamate  (ISO)
N-ethyl-N-nitrosourea  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
N-methyl-N-nitrosourea  (EXP)
N-nitrosodiethylamine  (EXP,ISO)
nitrates  (EXP)
nitric oxide  (ISO)
nitrofen  (EXP)
osthole  (ISO)
ouabain  (ISO)
paracetamol  (EXP,ISO)
patulin  (ISO)
pentacarbonyliron  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
phenylmercury acetate  (ISO)
phosphane  (ISO)
picoxystrobin  (ISO)
platycodin D  (ISO)
progesterone  (EXP)
quercetin  (EXP,ISO)
resveratrol  (EXP,ISO)
rolipram  (ISO)
rotenone  (ISO)
rutin  (ISO)
SB 431542  (EXP,ISO)
sodium arsenite  (ISO)
streptozocin  (EXP,ISO)
tamibarotene  (ISO)
testosterone enanthate  (ISO)
tetrachloromethane  (ISO)
theobromine  (ISO)
titanium dioxide  (EXP)
trichostatin A  (ISO)
triphenyl phosphate  (ISO)
triptonide  (EXP)
troglitazone  (EXP)
valproic acid  (EXP,ISO)
vanadyl sulfate  (ISO)
vincristine  (ISO)
vorinostat  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
activin receptor signaling pathway  (NAS)
adrenal gland development  (IEA,ISO)
anatomical structure morphogenesis  (IBA,IMP)
anterior/posterior pattern specification  (IMP)
atrioventricular canal development  (IGI)
atrioventricular valve formation  (IGI)
axon guidance  (IMP)
BMP signaling pathway  (IBA,IMP,ISO)
brainstem development  (IMP)
branching involved in ureteric bud morphogenesis  (IGI)
cardiac muscle hypertrophy in response to stress  (IEA,ISO)
cardiac septum development  (IGI)
cell differentiation  (IBA,IMP)
cell population proliferation  (IGI,IMP)
cellular response to glucose stimulus  (IEA,ISO)
cellular response to transforming growth factor beta stimulus  (ISO)
developmental growth  (IMP)
DNA-templated transcription  (ISO)
embryonic digit morphogenesis  (IMP)
endocardial cell differentiation  (IMP)
endoderm development  (IMP)
endothelial cell activation  (IMP)
epithelial cell migration  (IEA,ISO)
epithelial to mesenchymal transition  (ISO)
epithelial to mesenchymal transition involved in endocardial cushion formation  (IMP)
ERK1 and ERK2 cascade  (IEA,ISO)
extrinsic apoptotic signaling pathway  (IEA,ISO)
female gonad development  (IGI)
female gonad morphogenesis  (IMP)
formation of anatomical boundary  (IMP)
gastrulation  (IMP)
gastrulation with mouth forming second  (IMP)
in utero embryonic development  (IMP)
interleukin-6-mediated signaling pathway  (IDA)
intracellular iron ion homeostasis  (IMP)
intracellular signal transduction  (ISO)
kidney development  (IMP)
left ventricular cardiac muscle tissue morphogenesis  (IMP)
male gonad development  (IMP)
mesendoderm development  (IMP)
mesoderm development  (IMP)
metanephric mesenchyme morphogenesis  (IMP)
negative regulation of canonical Wnt signaling pathway  (IEA,ISO)
negative regulation of cardiac muscle hypertrophy  (IMP)
negative regulation of cardiac myofibril assembly  (IMP)
negative regulation of cell growth  (IEA,ISO)
negative regulation of cell population proliferation  (IGI)
negative regulation of DNA-templated transcription  (ISO)
negative regulation of ERK1 and ERK2 cascade  (IMP)
negative regulation of protein catabolic process  (IEA,ISO)
negative regulation of transcription by RNA polymerase II  (IMP)
nephrogenic mesenchyme morphogenesis  (IMP)
neural crest cell differentiation  (IMP)
neuron fate commitment  (IMP)
neuron fate specification  (IEA,ISO)
osteoblast differentiation  (IEA,ISO)
outflow tract septum morphogenesis  (IGI)
ovarian follicle development  (IGI,IMP,ISO)
positive regulation of cardiac muscle cell apoptotic process  (IEA,ISO)
positive regulation of cell proliferation involved in heart valve morphogenesis  (IMP)
positive regulation of DNA-templated transcription  (IDA,ISO)
positive regulation of epithelial to mesenchymal transition  (IMP)
positive regulation of extracellular matrix assembly  (IEA,ISO)
positive regulation of follicle-stimulating hormone secretion  (IGI,IMP)
positive regulation of gene expression  (IEA,ISO)
positive regulation of luteinizing hormone secretion  (IGI,IMP)
positive regulation of miRNA transcription  (IMP)
positive regulation of SMAD protein signal transduction  (IMP)
positive regulation of transcription by RNA polymerase II  (IDA,IGI,IMP,ISO)
positive regulation of transforming growth factor beta receptor signaling pathway  (IEA,ISO)
regulation of cell population proliferation  (IGI,IMP)
regulation of DNA-templated transcription  (NAS)
regulation of hair follicle development  (IMP)
regulation of transcription by RNA polymerase II  (IBA,IDA)
regulation of transforming growth factor beta2 production  (IEA,ISO)
response to hypoxia  (IEA,ISO)
response to transforming growth factor beta  (ISO)
sebaceous gland development  (IMP)
secondary palate development  (IMP)
seminiferous tubule development  (IMP)
single fertilization  (IGI)
SMAD protein signal transduction  (IBA,IMP,ISO)
somite rostral/caudal axis specification  (IMP)
spermatogenesis  (IMP)
tissue morphogenesis  (IMP)
transcription by RNA polymerase II  (IMP)
transforming growth factor beta receptor signaling pathway  (IBA,IGI,IMP,ISO,NAS)
uterus development  (IGI)
ventricular septum morphogenesis  (IMP)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Mammalian Phenotype
abnormal allantois morphology  (IAGP)
abnormal bile duct morphology  (IAGP)
abnormal bone collagen fibril morphology  (IAGP)
abnormal cecum morphology  (IAGP)
abnormal cerebellar molecular layer  (IAGP)
abnormal compact bone lamellar structure  (IAGP)
abnormal cumulus expansion  (IAGP)
abnormal dorsal-ventral axis patterning  (IAGP)
abnormal duodenum morphology  (IAGP)
abnormal ectoderm development  (IAGP)
abnormal embryo development  (IAGP)
abnormal embryonic epiblast morphology  (IAGP)
abnormal embryonic hematopoiesis  (IAGP)
abnormal embryonic tissue morphology  (IAGP)
abnormal embryonic-extraembryonic boundary morphology  (IAGP)
abnormal enamel morphology  (IAGP)
abnormal endoderm development  (IAGP)
abnormal extraembryonic tissue morphology  (IAGP)
abnormal granulosa cell morphology  (IAGP)
abnormal hair follicle morphology  (IAGP)
abnormal hair follicle regression  (IAGP)
abnormal hair growth  (IAGP)
abnormal heart right ventricle morphology  (IAGP)
abnormal heart ventricle outflow tract morphology  (IAGP)
abnormal hindbrain development  (IAGP)
abnormal hypodermis morphology  (IAGP)
abnormal keratinocyte morphology  (IAGP)
abnormal keratinocyte physiology  (IAGP)
abnormal kidney development  (IAGP)
abnormal large intestine morphology  (IAGP)
abnormal long bone diaphysis morphology  (IAGP)
abnormal male meiosis  (IAGP)
abnormal mesoderm development  (IAGP)
abnormal osteoblast physiology  (IAGP)
abnormal osteocyte morphology  (IAGP)
abnormal ovarian follicle morphology  (IAGP)
abnormal ovarian folliculogenesis  (IAGP)
abnormal pancreas morphology  (IAGP)
abnormal pancreatic acinar cell morphology  (IAGP)
abnormal pancreatic duct morphology  (IAGP)
abnormal pancreatic islet morphology  (IAGP)
abnormal proximal-distal axis patterning  (IAGP)
abnormal renal glomerulus morphology  (IAGP)
abnormal rhombomere morphology  (IAGP)
abnormal rostral-caudal axis patterning  (IAGP)
abnormal secondary ovarian follicle morphology  (IAGP)
abnormal skin appearance  (IAGP)
abnormal small intestine morphology  (IAGP)
abnormal stomach glandular epithelium morphology  (IAGP)
abnormal thymus physiology  (IAGP)
abnormal tibia morphology  (IAGP)
abnormal tooth morphology  (IAGP)
abnormal trabecula carnea morphology  (IAGP)
abnormal trabecular bone morphology  (IAGP)
abnormal visceral endoderm morphology  (IAGP)
abnormal vitelline vasculature morphology  (IAGP)
absent anterior visceral endoderm  (IAGP)
absent atrioventricular cushions  (IAGP)
absent cumulus expansion  (IAGP)
absent egg cylinders  (IAGP)
absent foregut  (IAGP)
absent hindgut  (IAGP)
absent mesoderm  (IAGP)
absent primordial germ cells  (IAGP)
alopecia  (IAGP)
anemia  (IAGP)
chronic pancreas inflammation  (IAGP)
clavicle hypoplasia  (IAGP)
colon polyps  (IAGP)
decreased body size  (IAGP)
decreased bone mineral density  (IAGP)
decreased cell proliferation  (IAGP)
decreased compact bone thickness  (IAGP)
decreased diameter of tibia  (IAGP)
decreased embryo size  (IAGP)
decreased embryonic epiblast cell proliferation  (IAGP)
decreased inner cell mass proliferation  (IAGP)
decreased kidney collecting duct number  (IAGP)
decreased litter size  (IAGP)
decreased oocyte number  (IAGP)
decreased osteoclast cell number  (IAGP)
decreased ovulation rate  (IAGP)
decreased Purkinje cell number  (IAGP)
decreased tertiary ovarian follicle number  (IAGP)
decreased tumor growth/size  (IAGP)
decreased tumor incidence  (IAGP)
decreased tumor latency  (IAGP)
decreased tumor-free survival time  (IAGP)
delayed bone ossification  (IAGP)
dilated pancreatic duct  (IAGP)
disorganized extraembryonic tissue  (IAGP)
disorganized stomach mucosa  (IAGP)
double outlet right ventricle  (IAGP)
duodenum polyps  (IAGP)
embryonic growth arrest  (IAGP)
embryonic growth retardation  (IAGP)
embryonic lethality between implantation and somite formation, complete penetrance  (IAGP)
embryonic lethality between implantation and somite formation, incomplete penetrance  (IAGP)
embryonic lethality between somite formation and embryo turning, incomplete penetrance  (IAGP)
embryonic lethality during organogenesis, complete penetrance  (IAGP)
embryonic lethality during organogenesis, incomplete penetrance  (IAGP)
embryonic lethality, complete penetrance  (IAGP)
enlarged hair follicles  (IAGP)
enlarged liver  (IAGP)
enlarged pancreas  (IAGP)
enlarged sebaceous gland  (IAGP)
enlarged spleen  (IAGP)
epidermal cyst  (IAGP)
epithelioid cyst  (IAGP)
failure of primitive streak formation  (IAGP)
failure to gastrulate  (IAGP)
fused somites  (IAGP)
gastric polyps  (IAGP)
hair follicle degeneration  (IAGP)
hepatic steatosis  (IAGP)
hydroureter  (IAGP)
hyperkeratosis  (IAGP)
increased adenoma incidence  (IAGP)
increased carcinoma incidence  (IAGP)
increased cholangiocarcinoma incidence  (IAGP)
increased circulating progesterone level  (IAGP)
increased compact bone thickness  (IAGP)
increased duodenum adenocarcinoma incidence  (IAGP)
increased gastric adenocarcinoma incidence  (IAGP)
increased gastrointestinal tumor incidence  (IAGP)
increased hair follicle cell proliferation  (IAGP)
increased intestinal adenocarcinoma incidence  (IAGP)
increased intestinal adenoma incidence  (IAGP)
increased keratinocyte proliferation  (IAGP)
increased liver weight  (IAGP)
increased lung tumor incidence  (IAGP)
increased mammary adenocarcinoma incidence  (IAGP)
increased metastatic potential  (IAGP)
increased ovary tumor incidence  (IAGP)
increased pancreatic ductal adenocarcinoma incidence  (IAGP)
increased pancreatic intraepithelial neoplasia incidence  (IAGP)
increased papilloma incidence  (IAGP)
increased prostate gland adenocarcinoma incidence  (IAGP)
increased Reichert's membrane thickness  (IAGP)
increased secondary ovarian follicle number  (IAGP)
increased skin papilloma incidence  (IAGP)
increased skin squamous cell carcinoma incidence  (IAGP)
increased skin tumor incidence  (IAGP)
increased squamous cell carcinoma incidence  (IAGP)
increased stomach tumor incidence  (IAGP)
increased trichoepithelioma incidence  (IAGP)
increased tumor incidence  (IAGP)
increased vertical activity  (IAGP)
infertility  (IAGP)
intestine polyps  (IAGP)
kidney cyst  (IAGP)
malocclusion  (IAGP)
no abnormal phenotype detected  (IAGP)
pancreas cyst  (IAGP)
pancreas fibrosis  (IAGP)
pancreatic acinar-to-ductal metaplasia  (IAGP)
perinatal lethality, incomplete penetrance  (IAGP)
postnatal lethality, complete penetrance  (IAGP)
postnatal lethality, incomplete penetrance  (IAGP)
premature death  (IAGP)
prenatal lethality, complete penetrance  (IAGP)
rib fractures  (IAGP)
rostral body truncation  (IAGP)
short tibia  (IAGP)
small ectoplacental cone  (IAGP)
small incisors  (IAGP)
small kidney  (IAGP)
small thoracic cavity  (IAGP)
small thymus  (IAGP)
stomach epithelial hyperplasia  (IAGP)
thick epidermis  (IAGP)
thick epidermis stratum basale  (IAGP)
thick hair follicle outer root sheath  (IAGP)
thick skin  (IAGP)
thin ventricle myocardium compact layer  (IAGP)
ventricular septal defect  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. SMAD4 mutation segregating in a family with juvenile polyposis, aortopathy, and mitral valve dysfunction. Andrabi S, etal., Am J Med Genet A. 2011 May;155A(5):1165-9. doi: 10.1002/ajmg.a.33968. Epub 2011 Apr 4.
2. Genotype-defined cancer risk in juvenile polyposis syndrome. Aytac E, etal., Br J Surg. 2015 Jan;102(1):114-8. doi: 10.1002/bjs.9693. Epub 2014 Nov 12.
3. Smad4 loss in mice causes spontaneous head and neck cancer with increased genomic instability and inflammation. Bornstein S, etal., J Clin Invest. 2009 Nov;119(11):3408-19. doi: 10.1172/JCI38854. Epub 2009 Oct 19.
4. A novel SMAD4 gene mutation in seminoma germ cell tumors. Bouras M, etal., Cancer Res. 2000 Feb 15;60(4):922-8.
5. Transforming growth factor-beta pathway in human renal cell carcinoma and surrounding normal-appearing renal parenchyma. Cardillo MR, etal., Anal Quant Cytol Histol. 2001 Apr;23(2):109-17.
6. [Effect of Budesonide on Smad4, PDGF-A and PAI-1 in a rat model of pulmonary fibrosis]. Chen JP, etal., Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi. 2012 May;28(5):478-80.
7. Emodin protects rat liver from CCl(4)-induced fibrogenesis via inhibition of hepatic stellate cells activation. Dong MX, etal., World J Gastroenterol. 2009 Oct 14;15(38):4753-62.
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34. Electronic Transfer of Homolog Data MGD and Homologene mouse data transfer
35. MGDs mouse GO annotations MGD data from the GO Consortium
36. MGD IEA MGD IEA
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44. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
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46. TGF-beta signaling is disrupted in endometrioid-type endometrial carcinomas. Piestrzeniewicz-Ulanska D, etal., Gynecol Oncol. 2004 Oct;95(1):173-80.
47. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
48. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
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51. Mouse MP Annotation Import Pipeline RGD automated import pipeline
52. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
53. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
54. Mutation analysis of SMAD2, SMAD3, and SMAD4 genes in hereditary non-polyposis colorectal. Roth S, etal., J Med Genet. 2000 Apr;37(4):298-300.
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58. Expression profiling identifies altered expression of genes that contribute to the inhibition of transforming growth factor-beta signaling in ovarian cancer. Sunde JS, etal., Cancer Res. 2006 Sep 1;66(17):8404-12.
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66. Treatment with cardiotonic pills(®) after ischemia-reperfusion ameliorates myocardial fibrosis in rats. Wei XH, etal., Microcirculation. 2013 Jan;20(1):17-29. doi: 10.1111/micc.12002.
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71. TGF-beta signaling alterations and susceptibility to colorectal cancer. Xu Y and Pasche B, Hum Mol Genet. 2007 Apr 15;16 Spec No 1:R14-20.
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74. Inactivation of Smad4 is a prognostic factor in intrahepatic cholangiocarcinoma. Yan XQ, etal., Chin Med J (Engl). 2013 Aug;126(16):3039-43.
75. Smad4 expression in hepatocellular carcinoma differs by hepatitis status. Yao L, etal., Asian Pac J Cancer Prev. 2012;13(4):1297-303. doi: 10.7314/apjcp.2012.13.4.1297.
76. Apoptosis incidence and protein expression of p53, TGF-beta receptor II, p27Kip1, and Smad4 in benign, premalignant, and malignant human prostate. Zeng L, etal., Hum Pathol. 2004 Mar;35(3):290-7.
77. Involvement of mutations in the DPC4 promoter in endometrial carcinoma development. Zhou Y, etal., Mol Carcinog. 1999 May;25(1):64-72.
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Genomics

Comparative Map Data
Smad4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391873,767,861 - 73,836,862 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1873,772,080 - 73,836,851 (-)EnsemblGRCm39 Ensembl
GRCm381873,634,790 - 73,703,791 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1873,639,009 - 73,703,780 (-)EnsemblGRCm38mm10GRCm38
MGSCv371873,798,667 - 73,863,395 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361873,764,382 - 73,829,110 (-)NCBIMGSCv36mm8
Celera1874,884,056 - 74,923,073 (-)NCBICelera
Cytogenetic Map18E2NCBI
cM Map1849.51NCBI
SMAD4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381851,030,213 - 51,085,042 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1851,028,528 - 51,085,045 (+)EnsemblGRCh38hg38GRCh38
GRCh371848,556,583 - 48,611,412 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361846,810,611 - 46,860,145 (+)NCBINCBI36Build 36hg18NCBI36
Build 341846,810,610 - 46,860,144NCBI
Celera1845,413,367 - 45,468,195 (+)NCBICelera
Cytogenetic Map18q21.2NCBI
HuRef1845,411,927 - 45,466,923 (+)NCBIHuRef
CHM1_11848,551,997 - 48,606,836 (+)NCBICHM1_1
T2T-CHM13v2.01851,231,926 - 51,286,759 (+)NCBIT2T-CHM13v2.0
Smad4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81869,518,988 - 69,549,684 (-)NCBIGRCr8
mRatBN7.21867,243,742 - 67,274,438 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1867,243,742 - 67,274,438 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1869,351,818 - 69,382,528 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01870,026,538 - 70,057,217 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01867,891,801 - 67,922,479 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01869,626,682 - 69,657,373 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1869,627,757 - 69,671,199 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01868,773,326 - 68,802,354 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41870,432,705 - 70,461,541 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11870,504,785 - 70,534,814 (-)NCBI
Celera1865,246,042 - 65,276,480 (-)NCBICelera
Cytogenetic Map18q12.2NCBI
Smad4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540235,961,165 - 35,994,538 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540235,956,080 - 36,001,746 (+)NCBIChiLan1.0ChiLan1.0
SMAD4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21768,549,261 - 68,603,954 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11854,241,866 - 54,296,559 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01844,402,112 - 44,456,779 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11847,692,311 - 47,802,530 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1847,764,568 - 47,797,359 (+)Ensemblpanpan1.1panPan2
SMAD4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1123,875,989 - 23,930,027 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl123,882,139 - 23,969,405 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha124,868,005 - 24,956,178 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0123,767,402 - 23,821,366 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl123,772,519 - 23,821,180 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1123,833,038 - 23,921,205 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0123,719,264 - 23,807,404 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0123,987,158 - 24,041,139 (-)NCBIUU_Cfam_GSD_1.0
Smad4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494437,008,523 - 37,038,961 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649712,249,140 - 12,278,123 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493649712,242,869 - 12,278,012 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SMAD4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1100,589,850 - 100,628,029 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11100,521,843 - 100,633,501 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21110,456,997 - 110,568,659 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SMAD4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11829,894,157 - 29,951,445 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1829,897,621 - 29,934,478 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660504,018,900 - 4,079,370 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Smad4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462477814,570,348 - 14,630,325 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462477814,570,025 - 14,629,950 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Smad4
2922 total Variants
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:853
Count of miRNA genes:421
Interacting mature miRNAs:484
Transcripts:ENSMUST00000025393, ENSMUST00000114939, ENSMUST00000129326, ENSMUST00000131339, ENSMUST00000142672, ENSMUST00000147315
Prediction methods: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.


QTLs in Region (GRCm39)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1302099Hdlq30_mHDL QTL 30 (mouse)Not determined185166830085668468Mouse
11252137Modvl5_mmodifier of vacuolated lens 5 (mouse)185105215685052311Mouse
1558803W3q16_mweight 3 weeks QTL 16 (mouse)Not determined186127244881491831Mouse
10412244Par5_mpulmonary adenoma resistance 5 (mouse)Not determined185166830085668468Mouse
1301853Heal9_mwound healing/regeneration 9 (mouse)Not determined185280527686805416Mouse
1302109Sluc28_msusceptibility to lung cancer 28 (mouse)Not determined185993532190720763Mouse
25823173Hrsq12_mhost response to SARS QTL 12, hemorrhage (mouse)182489588178339555Mouse
1357639Obsty4_mobesity 4 (mouse)Not determined183961991484638778Mouse
4142443Pgis1_mproteoglycan induced spondylitis 1 (mouse)Not determined185329102276914293Mouse
4140971Mbmq1_mmale body mass QTL 1 (mouse)Not determined5799028190720763Mouse
1301902Hrtfm4_mheart failure modifier 4 (mouse)Not determined184331112077311343Mouse
12880410V125Dq13_mvitamin D active form serum level QTL 13 (mouse)185643307190433071Mouse
4142239Idd21.2_minsulin dependent diabetes susceptibility 21.2 (mouse)Not determined186127244874562414Mouse
15014786Mvlq2_mmacrovesicular liver lesion QTL 2 (mouse)187156938890720763Mouse
12880428V125Dq14_mvitamin D active form serum level QTL 14 (mouse)185743307190720763Mouse
1558782Orgwq9_morgan weight QTL 9 (mouse)Not determined186127244882604728Mouse
1357630Tgq1_mtriglyceride QTL 1 (mouse)Not determined185105215685052311Mouse
12880430Fgf23lq4_mFGF23 serum level QTL 4 (mouse)185643307190433071Mouse
1301368Par2_mpulmonary adenoma resistance 2 (mouse)Not determined187036233376707156Mouse
11039492Ltpr8a_mLeishmania tropica response 8a (mouse)185918009290720763Mouse
12904745Carcdq2_mcardiac collagen deposition QTL 2 (mouse)184642328780423287Mouse
11039493Ltpr8d_mLeishmania tropica response 8d (mouse)184687490380875042Mouse
11039494Ltpr8b_mLeishmania tropica response 8b (mouse)184687490380875042Mouse
10401904Sicd4_mseizure-induced cell death 4 (mouse)Not determined186980527685514143Mouse
1301500Szs4_mseizure susceptibility 4 (mouse)Not determined185497587385514143Mouse
11039495Ltpr8c_mLeishmania tropica response 8c (mouse)185918009290720763Mouse
4141132Eae18_mexperimental allergic encephalomyelitis susceptibility 18 (mouse)Not determined5759055982604728Mouse
11049564Lmr29_mleishmaniasis resistance 29 (mouse)185918009290720763Mouse
38455998Cdtm1_mCD62L+ CD8 TM cells 1 (mouse)186013307280043215Mouse
1302183Pas7_mpulmonary adenoma susceptibility 7 (mouse)Not determined187274559484144595Mouse
1301798Hdlq31_mHDL QTL 31 (mouse)Not determined186714438990720763Mouse
11039518Ltpr8_mLeishmania tropica response 8 (mouse)186387490376180241Mouse
1301353Lbw6_mlupus NZB x NZW 6 (mouse)Not determined185756233890720763Mouse
1301103Pgia11_mproteoglycan induced arthritis 11 (mouse)Not determined185991418490720763Mouse

Markers in Region
Smad4  
Mouse AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18E2UniSTS
cM Map1848.0UniSTS
UniSTS:224921  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381873,667,710 - 73,667,893UniSTSGRCm38
MGSCv371873,827,364 - 73,827,547UniSTSGRCm37
Celera1874,912,742 - 74,912,925UniSTS
Cytogenetic Map18E2UniSTS
cM Map1848.0UniSTS
PMC316400P5  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381873,650,984 - 73,651,604UniSTSGRCm38
MGSCv371873,810,638 - 73,811,258UniSTSGRCm37
Celera1874,896,042 - 74,896,662UniSTS
Cytogenetic Map18E2UniSTS
cM Map1848.0UniSTS
PMC316400P4  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381873,650,984 - 73,651,695UniSTSGRCm38
MGSCv371873,810,638 - 73,811,349UniSTSGRCm37
Celera1874,896,042 - 74,896,753UniSTS
Cytogenetic Map18E2UniSTS
cM Map1848.0UniSTS
PMC316400P6  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381873,651,123 - 73,651,604UniSTSGRCm38
MGSCv371873,810,777 - 73,811,258UniSTSGRCm37
Celera1874,896,181 - 74,896,662UniSTS
Cytogenetic Map18E2UniSTS
cM Map1848.0UniSTS
AF010230  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381873,649,730 - 73,649,898UniSTSGRCm38
MGSCv371873,809,384 - 73,809,552UniSTSGRCm37
Celera1874,894,788 - 74,894,956UniSTS
Cytogenetic Map18E2UniSTS
cM Map1848.0UniSTS
PMC86557P1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381873,658,594 - 73,658,875UniSTSGRCm38
MGSCv371873,818,248 - 73,818,529UniSTSGRCm37
Celera1874,903,644 - 74,903,925UniSTS
Cytogenetic Map18E2UniSTS
cM Map1848.0UniSTS
D18Dev1  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381873,649,252 - 73,649,515UniSTSGRCm38
MGSCv371873,808,906 - 73,809,169UniSTSGRCm37
Celera1874,894,310 - 74,894,573UniSTS
Cytogenetic Map18E2UniSTS
cM Map1848.0UniSTS
D18Wsu70e  
Mouse AssemblyChrPosition (strand)SourceJBrowse
GRCm381873,639,070 - 73,639,319UniSTSGRCm38
MGSCv371873,798,724 - 73,798,973UniSTSGRCm37
Celera1874,884,113 - 74,884,362UniSTS
Cytogenetic Map18E2UniSTS
cM Map1847.0UniSTS
cM Map1848.0UniSTS


Expression

RNA-SEQ Expression


Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001364967 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364968 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_008540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_157374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006525701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011246855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB221585 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC132418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC134447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK004804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK170255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY119788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY493561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC046584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BY742922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH466528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU072917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU072918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU072919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GU072920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U79748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENSMUST00000025393   ⟹   ENSMUSP00000025393
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1873,772,080 - 73,836,851 (-)Ensembl
GRCm38.p6 Ensembl1873,639,009 - 73,703,780 (-)Ensembl
Ensembl Acc Id: ENSMUST00000114939   ⟹   ENSMUSP00000110589
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1873,773,072 - 73,811,302 (-)Ensembl
GRCm38.p6 Ensembl1873,640,001 - 73,678,231 (-)Ensembl
Ensembl Acc Id: ENSMUST00000129326
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1873,791,850 - 73,808,189 (-)Ensembl
GRCm38.p6 Ensembl1873,658,779 - 73,675,118 (-)Ensembl
Ensembl Acc Id: ENSMUST00000131339
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1873,773,229 - 73,775,634 (-)Ensembl
GRCm38.p6 Ensembl1873,640,158 - 73,642,563 (-)Ensembl
Ensembl Acc Id: ENSMUST00000142672
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1873,773,294 - 73,795,846 (-)Ensembl
GRCm38.p6 Ensembl1873,640,223 - 73,662,775 (-)Ensembl
Ensembl Acc Id: ENSMUST00000147315
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm39 Ensembl1873,773,283 - 73,782,890 (-)Ensembl
GRCm38.p6 Ensembl1873,640,212 - 73,649,819 (-)Ensembl
RefSeq Acc Id: NM_001364967   ⟹   NP_001351896
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391873,767,861 - 73,836,862 (-)NCBI
GRCm381873,634,790 - 73,703,791 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001364968   ⟹   NP_001351897
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391873,767,861 - 73,836,862 (-)NCBI
GRCm381873,634,790 - 73,703,791 (-)NCBI
Sequence:
RefSeq Acc Id: NM_008540   ⟹   NP_032566
RefSeq Status: VALIDATED
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391873,767,861 - 73,836,862 (-)NCBI
GRCm381873,634,790 - 73,703,791 (-)NCBI
MGSCv371873,798,667 - 73,863,395 (-)RGD
Celera1874,884,056 - 74,923,073 (-)RGD
cM Map18 ENTREZGENE
Sequence:
RefSeq Acc Id: NR_157374
RefSeq Status: VALIDATED
Type: NON-CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391873,767,861 - 73,836,862 (-)NCBI
GRCm381873,634,790 - 73,703,791 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006525701   ⟹   XP_006525764
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391873,769,251 - 73,836,640 (-)NCBI
GRCm381873,634,858 - 73,703,512 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011246855   ⟹   XP_011245157
Type: CODING
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm391873,769,251 - 73,836,831 (-)NCBI
GRCm381873,634,858 - 73,703,512 (-)NCBI
Sequence:
RefSeq Acc Id: NP_032566   ⟸   NM_008540
- Peptide Label: isoform 1
- UniProtKB: Q6GTP6 (UniProtKB/Swiss-Prot),   Q9CW56 (UniProtKB/Swiss-Prot),   P97471 (UniProtKB/Swiss-Prot),   Q811W8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006525764   ⟸   XM_006525701
- Peptide Label: isoform X2
- UniProtKB: Q811W8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011245157   ⟸   XM_011246855
- Peptide Label: isoform X1
- UniProtKB: E3SRH0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001351897   ⟸   NM_001364968
- Peptide Label: isoform 3
- UniProtKB: E3SRG8 (UniProtKB/TrEMBL),   Q811W8 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001351896   ⟸   NM_001364967
- Peptide Label: isoform 2
- UniProtKB: E3SRG7 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSMUSP00000110589   ⟸   ENSMUST00000114939
Ensembl Acc Id: ENSMUSP00000025393   ⟸   ENSMUST00000025393
Protein Domains
MH1   MH2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P97471-F1-model_v2 AlphaFold P97471 1-551 view protein structure

Promoters
RGD ID:13678136
Promoter ID:EPDNEW_M23217
Type:single initiation site
Name:Smad4_2
Description:Mus musculus SMAD family member 4 , mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_M23218  
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm381873,701,755 - 73,701,815EPDNEW
RGD ID:13678138
Promoter ID:EPDNEW_M23218
Type:initiation region
Name:Smad4_1
Description:Mus musculus SMAD family member 4 , mRNA.
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_M23217  
Experiment Methods:Single-end sequencing.
Position:
Mouse AssemblyChrPosition (strand)Source
GRCm381873,703,791 - 73,703,851EPDNEW
RGD ID:6829544
Promoter ID:MM_KWN:25663
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Brain
Transcripts:OTTMUST00000049900
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv361873,801,686 - 73,802,186 (-)MPROMDB
RGD ID:6829543
Promoter ID:MM_KWN:25666
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Kidney
Transcripts:OTTMUST00000049899
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv361873,835,466 - 73,835,966 (-)MPROMDB
RGD ID:6828987
Promoter ID:MM_KWN:25668
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:3T3L1_Day0,   3T3L1_Day1,   3T3L1_Day2,   3T3L1_Day3,   3T3L1_Day6,   BoneMarrow_0Hour,   BoneMarrow_2Hour,   BoneMarrow_4Hour,   Brain,   ES_Cell,   Kidney,   Liver,   Lung,   MEF_B4,   MEF_B6,   Spleen
Transcripts:AK028578_4930578L24RIK,   OTTMUST00000049897
Position:
Mouse AssemblyChrPosition (strand)Source
MGSCv361873,863,301 - 73,863,801 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene MGI:894293 AgrOrtholog
Ensembl Genes ENSMUSG00000024515 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENSMUST00000025393 ENTREZGENE
  ENSMUST00000025393.14 UniProtKB/Swiss-Prot
  ENSMUST00000114939.2 UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.200.10 UniProtKB/Swiss-Prot
  3.90.520.10 UniProtKB/Swiss-Prot
InterPro Dwarfin UniProtKB/Swiss-Prot
  MAD_homology1_Dwarfin-type UniProtKB/Swiss-Prot
  MAD_homology_MH1 UniProtKB/Swiss-Prot
  SMAD-like_dom_sf UniProtKB/Swiss-Prot
  SMAD_dom_Dwarfin-type UniProtKB/Swiss-Prot
  SMAD_FHA_dom_sf UniProtKB/Swiss-Prot
  SMAD_MH1_sf UniProtKB/Swiss-Prot
KEGG Report mmu:17128 UniProtKB/Swiss-Prot
MGD MGI:894293 ENTREZGENE
NCBI Gene 17128 ENTREZGENE
PANTHER MOTHERS AGAINST DECAPENTAPLEGIC HOMOLOG 4 UniProtKB/Swiss-Prot
  PTHR13703 UniProtKB/Swiss-Prot
Pfam MH1 UniProtKB/Swiss-Prot
  MH2 UniProtKB/Swiss-Prot
PhenoGen Smad4 PhenoGen
PROSITE MH1 UniProtKB/Swiss-Prot
  MH2 UniProtKB/Swiss-Prot
SMART DWA UniProtKB/Swiss-Prot
  DWB UniProtKB/Swiss-Prot
Superfamily-SCOP SSF49879 UniProtKB/Swiss-Prot
  SSF56366 UniProtKB/Swiss-Prot
UniProt E3SRG7 ENTREZGENE, UniProtKB/TrEMBL
  E3SRG8 ENTREZGENE, UniProtKB/TrEMBL
  E3SRG9_MOUSE UniProtKB/TrEMBL
  E3SRH0 ENTREZGENE, UniProtKB/TrEMBL
  P97471 ENTREZGENE
  Q6GTP6 ENTREZGENE
  Q811W8 ENTREZGENE, UniProtKB/TrEMBL
  Q9CW56 ENTREZGENE
  SMAD4_MOUSE UniProtKB/Swiss-Prot
UniProt Secondary Q6GTP6 UniProtKB/Swiss-Prot
  Q9CW56 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-22 Smad4  SMAD family member 4  AW743858  expressed sequence AW743858  Data merged from RGD:1611564 737654 PROVISIONAL
2012-07-10 Smad4  SMAD family member 4  Smad4  MAD homolog 4 (Drosophila)  Symbol and/or name change 5135510 APPROVED