MultifacetedProtDB - Bologna Biocomputing Group

Structure

PDB	Resolution (Å)	PDB name
1DD1	2.62	CRYSTAL STRUCTURE ANALYSIS OF THE SMAD4 ACTIVE FRAGMENT
1G88	3.0	S4AFL3ARG515 MUTANT
1MR1	2.85	Crystal Structure of a Smad4-Ski Complex
1U7F	2.6	Crystal Structure of the phosphorylated Smad3/Smad4 heterotrimeric complex
1U7V	2.7	Crystal Structure of the phosphorylated Smad2/Smad4 heterotrimeric complex
1YGS	2.1	CRYSTAL STRUCTURE OF THE SMAD4 TUMOR SUPPRESSOR C-TERMINAL DOMAIN
5C4V	2.6	Ski-like protein
5MEY	2.05	Crystal structure of Smad4-MH1 bound to the GGCGC site.
5MEZ	2.98	Crystal structure of Smad4-MH1 bound to the GGCT site.
5MF0	3.03	Crystal structure of Smad4-MH1 bound to the GGCCG site.
5UWU	2.24	Crystal Structure of SMAD4 NES Peptide in complex with CRM1-Ran-RanBP1
6YIC	1.6	14-3-3 sigma in complex with SMAD4 pS403 peptide

GO term

GO ontology	GO term	GO description
Biological Process	GO:0030509	BMP signaling pathway
Biological Process	GO:0006351	DNA-templated transcription
Biological Process	GO:0070371	ERK1 and ERK2 cascade
Biological Process	GO:0007183	SMAD protein complex assembly
Biological Process	GO:0060395	SMAD protein signal transduction
Biological Process	GO:0032924	activin receptor signaling pathway
Biological Process	GO:0030325	adrenal gland development
Biological Process	GO:0007568	aging
Biological Process	GO:0009653	anatomical structure morphogenesis
Biological Process	GO:0036302	atrioventricular canal development
Biological Process	GO:0003190	atrioventricular valve formation
Biological Process	GO:0007411	axon guidance
Biological Process	GO:0003360	brainstem development
Biological Process	GO:0001658	branching involved in ureteric bud morphogenesis
Biological Process	GO:0003161	cardiac conduction system development
Biological Process	GO:0030154	cell differentiation
Biological Process	GO:0008283	cell population proliferation
Biological Process	GO:0071773	cellular response to BMP stimulus
Biological Process	GO:0071333	cellular response to glucose stimulus
Biological Process	GO:0048589	developmental growth
Biological Process	GO:0042733	embryonic digit morphogenesis
Biological Process	GO:0060956	endocardial cell differentiation
Biological Process	GO:0007492	endoderm development
Biological Process	GO:0042118	endothelial cell activation
Biological Process	GO:0010631	epithelial cell migration
Biological Process	GO:0001837	epithelial to mesenchymal transition
Biological Process	GO:0003198	epithelial to mesenchymal transition involved in endocardial cushion formation
Biological Process	GO:0061040	female gonad morphogenesis
Biological Process	GO:0048859	formation of anatomical boundary
Biological Process	GO:0001702	gastrulation with mouth forming second
Biological Process	GO:0001701	in utero embryonic development
Biological Process	GO:0070102	interleukin-6-mediated signaling pathway
Biological Process	GO:0006879	intracellular iron ion homeostasis
Biological Process	GO:0035556	intracellular signal transduction
Biological Process	GO:0003220	left ventricular cardiac muscle tissue morphogenesis
Biological Process	GO:0007498	mesoderm development
Biological Process	GO:0072133	metanephric mesenchyme morphogenesis
Biological Process	GO:0045892	negative regulation of DNA-templated transcription
Biological Process	GO:0070373	negative regulation of ERK1 and ERK2 cascade
Biological Process	GO:0010614	negative regulation of cardiac muscle hypertrophy
Biological Process	GO:1905305	negative regulation of cardiac myofibril assembly
Biological Process	GO:0030308	negative regulation of cell growth
Biological Process	GO:0008285	negative regulation of cell population proliferation
Biological Process	GO:0042177	negative regulation of protein catabolic process
Biological Process	GO:0000122	negative regulation of transcription by RNA polymerase II
Biological Process	GO:0072134	nephrogenic mesenchyme morphogenesis
Biological Process	GO:0014033	neural crest cell differentiation
Biological Process	GO:0048663	neuron fate commitment
Biological Process	GO:0001649	osteoblast differentiation
Biological Process	GO:0003148	outflow tract septum morphogenesis
Biological Process	GO:0001541	ovarian follicle development
Biological Process	GO:0030513	positive regulation of BMP signaling pathway
Biological Process	GO:0045893	positive regulation of DNA-templated transcription
Biological Process	GO:0060391	positive regulation of SMAD protein signal transduction
Biological Process	GO:0010666	positive regulation of cardiac muscle cell apoptotic process
Biological Process	GO:0003251	positive regulation of cell proliferation involved in heart valve morphogenesis
Biological Process	GO:0010718	positive regulation of epithelial to mesenchymal transition
Biological Process	GO:0046881	positive regulation of follicle-stimulating hormone secretion
Biological Process	GO:0051571	positive regulation of histone H3-K4 methylation
Biological Process	GO:2000617	positive regulation of histone H3-K9 acetylation
Biological Process	GO:0033686	positive regulation of luteinizing hormone secretion
Biological Process	GO:1902895	positive regulation of miRNA transcription
Biological Process	GO:0010862	positive regulation of pathway-restricted SMAD protein phosphorylation
Biological Process	GO:0045944	positive regulation of transcription by RNA polymerase II
Biological Process	GO:1901522	positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus
Biological Process	GO:0030511	positive regulation of transforming growth factor beta receptor signaling pathway
Biological Process	GO:0051098	regulation of binding
Biological Process	GO:0051797	regulation of hair follicle development
Biological Process	GO:0006357	regulation of transcription by RNA polymerase II
Biological Process	GO:0017015	regulation of transforming growth factor beta receptor signaling pathway
Biological Process	GO:0032909	regulation of transforming growth factor beta2 production
Biological Process	GO:0001666	response to hypoxia
Biological Process	GO:0071559	response to transforming growth factor beta
Biological Process	GO:0048733	sebaceous gland development
Biological Process	GO:0062009	secondary palate development
Biological Process	GO:0072520	seminiferous tubule development
Biological Process	GO:0007338	single fertilization
Biological Process	GO:0032525	somite rostral/caudal axis specification
Biological Process	GO:0007283	spermatogenesis
Biological Process	GO:0006366	transcription by RNA polymerase II
Biological Process	GO:0007179	transforming growth factor beta receptor signaling pathway
Biological Process	GO:0060065	uterus development
Biological Process	GO:0060412	ventricular septum morphogenesis
Biological Process	GO:0042060	wound healing
Molecular Function	GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific
Molecular Function	GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific
Molecular Function	GO:0070411	I-SMAD binding
Molecular Function	GO:0070412	R-SMAD binding
Molecular Function	GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding
Molecular Function	GO:0061629	RNA polymerase II-specific DNA-binding transcription factor binding
Molecular Function	GO:0003682	chromatin binding
Molecular Function	GO:0005518	collagen binding
Molecular Function	GO:0031005	filamin binding
Molecular Function	GO:0042802	identical protein binding
Molecular Function	GO:0046872	metal ion binding
Molecular Function	GO:0042803	protein homodimerization activity
Molecular Function	GO:0043199	sulfate binding
Molecular Function	GO:0000976	transcription cis-regulatory region binding
Molecular Function	GO:0001223	transcription coactivator binding
Cellular Component	GO:0071141	SMAD protein complex
Cellular Component	GO:0032444	activin responsive factor complex
Cellular Component	GO:0005813	centrosome
Cellular Component	GO:0000785	chromatin
Cellular Component	GO:0005737	cytoplasm
Cellular Component	GO:0005829	cytosol
Cellular Component	GO:0071144	heteromeric SMAD protein complex
Cellular Component	GO:0005654	nucleoplasm
Cellular Component	GO:0005634	nucleus
Cellular Component	GO:0005667	transcription regulator complex

InterPro / Pfam

InterPro	InterPro name
IPR001132	SMAD domain, Dwarfin-type
IPR003619	MAD homology 1, Dwarfin-type
IPR008984	SMAD/FHA domain superfamily
IPR013019	MAD homology, MH1
IPR013790	Dwarfin
IPR017855	SMAD-like domain superfamily
IPR036578	SMAD MH1 domain superfamily

Pfam	Pfam name
PF03165	MH1 domain
PF03166	MH2 domain

Reactome

Reactome	Reactome Name	Node type	Reactome Root	Reactome Root Name
R-HSA-1181150	Signaling by NODAL	Internal node	R-HSA-1266738	Developmental Biology
R-HSA-1502540	Signaling by Activin	Internal node	R-HSA-162582	Signal Transduction
R-HSA-201451	Signaling by BMP	Leaf	R-HSA-162582	Signal Transduction
R-HSA-2173789	TGF-beta receptor signaling activates SMADs	Internal node	R-HSA-162582	Signal Transduction
R-HSA-2173795	Downregulation of SMAD2/3:SMAD4 transcriptional activity	Leaf	R-HSA-74160	Gene expression (Transcription)
R-HSA-2173796	SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription	Leaf	R-HSA-74160	Gene expression (Transcription)
R-HSA-3311021	SMAD4 MH2 Domain Mutants in Cancer	Leaf	R-HSA-1643685	Disease
R-HSA-3315487	SMAD2/3 MH2 Domain Mutants in Cancer	Leaf	R-HSA-1643685	Disease
R-HSA-452723	Transcriptional regulation of pluripotent stem cells	Internal node	R-HSA-1266738	Developmental Biology
R-HSA-5689880	Ub-specific processing proteases	Leaf	R-HSA-392499	Metabolism of proteins
R-HSA-8941326	RUNX2 regulates bone development	Internal node	R-HSA-74160	Gene expression (Transcription)
R-HSA-8941855	RUNX3 regulates CDKN1A transcription	Leaf	R-HSA-74160	Gene expression (Transcription)
R-HSA-8952158	RUNX3 regulates BCL2L11 (BIM) transcription	Leaf	R-HSA-74160	Gene expression (Transcription)
R-HSA-9615017	FOXO-mediated transcription of oxidative stress, metabolic and neuronal genes	Leaf	R-HSA-74160	Gene expression (Transcription)
R-HSA-9617828	FOXO-mediated transcription of cell cycle genes	Leaf	R-HSA-74160	Gene expression (Transcription)
R-HSA-9735871	SARS-CoV-1 targets host intracellular signalling and regulatory pathways	Leaf	R-HSA-1643685	Disease
R-HSA-9754189	Germ layer formation at gastrulation	Leaf	R-HSA-1266738	Developmental Biology

Subcellular location

Location	ECO term	Pubmed
Cytoplasm	ECO:0000269	PubMed:15799969
Cytoplasm	ECO:0000269	PubMed:17327236
Nucleus	ECO:0000269	PubMed:15799969

Interactor | Variant | Drug

Phenotype

HPO ID	HPO name
HP:0410030	Cleft lip
HP:0012432	Chronic fatigue
HP:0001634	Mitral valve prolapse
HP:0004394	Multiple gastric polyps
HP:0001677	Coronary artery atherosclerosis
HP:0001510	Growth delay
HP:0001297	Stroke
HP:0003003	Colon cancer
HP:0000256	Macrocephaly
HP:0030084	Clinodactyly
HP:0001387	Joint stiffness
HP:0001513	Obesity
HP:0001166	Arachnodactyly
HP:0000028	Cryptorchidism
HP:0100659	Abnormal cerebral vascular morphology
HP:0006771	Duodenal adenocarcinoma
HP:0002716	Lymphadenopathy
HP:0001072	Thickened skin
HP:0000486	Strabismus
HP:0000581	Blepharophimosis
HP:0002254	Intermittent diarrhea
HP:0000327	Hypoplasia of the maxilla
HP:0004396	Poor appetite
HP:0002705	High, narrow palate
HP:0000926	Platyspondyly
HP:0002093	Respiratory insufficiency
HP:0030256	Small intestinal polyposis
HP:0100026	Arteriovenous malformation
HP:0000098	Tall stature
HP:0100592	Peritoneal abscess
HP:0000518	Cataract
HP:0000490	Deeply set eye
HP:0000365	Hearing impairment
HP:0004950	Peripheral arterial stenosis
HP:0003720	Generalized muscle hypertrophy
HP:0004691	2-3 toe syndactyly
HP:0003002	Breast carcinoma
HP:0002076	Migraine
HP:0000508	Ptosis
HP:0100761	Visceral angiomatosis
HP:0012163	Carotid artery dilatation
HP:0011025	Abnormal cardiovascular system physiology
HP:0002326	Transient ischemic attack
HP:0005930	Abnormal epiphysis morphology
HP:0008551	Microtia
HP:0001635	Congestive heart failure
HP:0004493	Craniofacial hyperostosis
HP:0006753	Neoplasm of the stomach
HP:0001342	Cerebral hemorrhage
HP:0000978	Bruising susceptibility
HP:0100541	Femoral hernia
HP:0000023	Inguinal hernia
HP:0000135	Hypogonadism
HP:0030053	Stiff skin
HP:0004322	Short stature
HP:0002875	Exertional dyspnea
HP:0002616	Aortic root aneurysm
HP:0001394	Cirrhosis
HP:0000965	Cutis marmorata
HP:0000316	Hypertelorism
HP:0000160	Narrow mouth
HP:0001671	Abnormal cardiac septum morphology
HP:0000885	Broad ribs
HP:0002894	Neoplasm of the pancreas
HP:0100579	Mucosal telangiectasiae
HP:0000047	Hypospadias
HP:0002672	Gastrointestinal carcinoma
HP:0001738	Exocrine pancreatic insufficiency
HP:0003510	Severe short stature
HP:0002017	Nausea and vomiting
HP:0001831	Short toe
HP:0200146	Mucoid extracellular matrix accumulation
HP:0004942	Aortic aneurysm
HP:0001653	Mitral regurgitation
HP:0006725	Pancreatic adenocarcinoma
HP:0001409	Portal hypertension
HP:0003457	EMG abnormality
HP:0000826	Precocious puberty
HP:0001518	Small for gestational age
HP:0000944	Abnormal metaphysis morphology
HP:0000574	Thick eyebrow
HP:0000233	Thin vermilion border
HP:0002408	Cerebral arteriovenous malformation
HP:0003549	Abnormality of connective tissue
HP:0001608	Abnormality of the voice
HP:0100333	Unilateral cleft lip
HP:0012385	Camptodactyly
HP:0001629	Ventricular septal defect
HP:0000036	Abnormal penis morphology
HP:0000969	Edema
HP:0002650	Scoliosis
HP:0002040	Esophageal varix
HP:0000219	Thin upper lip vermilion
HP:0003418	Back pain
HP:0000159	Abnormal lip morphology
HP:0001824	Weight loss
HP:0025318	Ovarian carcinoma
HP:0002239	Gastrointestinal hemorrhage
HP:0000193	Bifid uvula
HP:0001017	Anemic pallor
HP:0001433	Hepatosplenomegaly
HP:0012763	Paroxysmal dyspnea
HP:0001511	Intrauterine growth retardation
HP:0001250	Seizure
HP:0001845	Overlapping toe
HP:0004784	Juvenile gastrointestinal polyposis
HP:0002035	Rectal prolapse
HP:0002213	Fine hair
HP:0000568	Microphthalmia
HP:0100585	Telangiectasia of the skin
HP:0005112	Abdominal aortic aneurysm
HP:0007420	Spontaneous hematomas
HP:0004959	Descending thoracic aorta aneurysm
HP:0004936	Venous thrombosis
HP:0003073	Hypoalbuminemia
HP:0002647	Aortic dissection
HP:0003026	Short long bone
HP:0010579	Cone-shaped epiphysis
HP:0002896	Neoplasm of the liver
HP:0000524	Conjunctival telangiectasia
HP:0001508	Failure to thrive
HP:0012745	Short palpebral fissure
HP:0002576	Intussusception
HP:0002204	Pulmonary embolism
HP:0001643	Patent ductus arteriosus
HP:0011106	Hypovolemia
HP:0001081	Cholelithiasis
HP:0004933	Ascending aortic dissection
HP:0001048	Cavernous hemangioma
HP:0000426	Prominent nasal bridge
HP:0100749	Chest pain
HP:0000790	Hematuria
HP:0004783	Duodenal polyposis
HP:0002105	Hemoptysis
HP:0000708	Atypical behavior
HP:0005162	Abnormal left ventricular function
HP:0005249	Functional intestinal obstruction
HP:0000822	Hypertension
HP:0000787	Nephrolithiasis
HP:0002878	Respiratory failure
HP:0012499	Descending aortic dissection
HP:0002861	Melanoma
HP:0006548	Pulmonary arteriovenous malformation
HP:0000006	Autosomal dominant inheritance
HP:0001156	Brachydactyly
HP:0000303	Mandibular prognathia
HP:0003172	Abnormal pubic bone morphology
HP:0001640	Cardiomegaly
HP:0009466	Radial deviation of finger
HP:0008070	Sparse hair
HP:0000278	Retrognathia
HP:0004279	Short palm
HP:0001376	Limitation of joint mobility
HP:0004944	Dilatation of the cerebral artery
HP:0030690	Gingival cleft
HP:0100775	Dural ectasia
HP:0000772	Abnormal rib morphology
HP:0001631	Atrial septal defect
HP:0008818	Large iliac wing
HP:0001698	Pericardial effusion
HP:0002140	Ischemic stroke
HP:0001082	Cholecystitis
HP:0001217	Clubbing
HP:0000175	Cleft palate
HP:0002573	Hematochezia
HP:0002014	Diarrhea
HP:0002107	Pneumothorax
HP:0000421	Epistaxis
HP:0012334	Extrahepatic cholestasis
HP:0004621	Enlarged vertebral pedicles
HP:0007763	Retinal telangiectasia
HP:0004389	Intestinal pseudo-obstruction
HP:0003712	Skeletal muscle hypertrophy
HP:0002027	Abdominal pain
HP:0001263	Global developmental delay
HP:0000039	Epispadias
HP:0003581	Adult onset
HP:0011800	Midface retrusion
HP:0000272	Malar flattening
HP:0002092	Pulmonary arterial hypertension
HP:0001650	Aortic valve stenosis
HP:0003561	Birth length less than 3rd percentile
HP:0005227	Adenomatous colonic polyposis
HP:0001892	Abnormal bleeding
HP:0001763	Pes planus
HP:0000646	Amblyopia
HP:0200008	Intestinal polyposis
HP:0006574	Hepatic arteriovenous malformation
HP:0000322	Short philtrum
HP:0004894	Laryngotracheal stenosis
HP:0000470	Short neck
HP:0000952	Jaundice
HP:0410067	Increased level of L-fucose in urine
HP:0004390	Hamartomatous polyposis
HP:0002948	Vertebral fusion
HP:0000766	Abnormal sternum morphology
HP:0100784	Peripheral arteriovenous fistula
HP:0045025	Narrow palpebral fissure
HP:0002900	Hypokalemia
HP:0001680	Coarctation of aorta
HP:0001935	Microcytic anemia
HP:0001328	Specific learning disability
HP:0001659	Aortic regurgitation
HP:0001903	Anemia
HP:0100896	Rectal polyposis
HP:0001251	Ataxia
HP:0009381	Short finger
HP:0000819	Diabetes mellitus
HP:0000369	Low-set ears
HP:0001399	Hepatic failure
HP:0001009	Telangiectasia
HP:0001249	Intellectual disability
HP:0000176	Submucous cleft hard palate
HP:0003241	External genital hypoplasia
HP:0001647	Bicuspid aortic valve
HP:0000717	Autism
HP:0002910	Elevated hepatic transaminase
HP:0002684	Thickened calvaria
HP:0002866	Hypoplastic iliac wing
HP:0001428	Somatic mutation
HP:0002039	Anorexia
HP:0000525	Abnormality iris morphology
HP:0002138	Subarachnoid hemorrhage
HP:0008499	High hypermetropia
HP:0000540	Hypermetropia
HP:0000252	Microcephaly

Tissue and cell type

Tissue	Cell type	Expression level	Reliability
adrenal gland	glandular cells	Medium	Approved
appendix	glandular cells	High	Approved
appendix	lymphoid tissue	Medium	Approved
bone marrow	hematopoietic cells	Medium	Approved
breast	glandular cells	Medium	Approved
breast	myoepithelial cells	Low	Approved
bronchus	respiratory epithelial cells	Medium	Approved
caudate	neuronal cells	Low	Approved
cerebellum	cells in granular layer	Low	Approved
cerebral cortex	endothelial cells	Low	Approved
cerebral cortex	neuronal cells	Low	Approved
cerebral cortex	neuropil	Low	Approved
cervix	glandular cells	Medium	Approved
colon	endothelial cells	Low	Approved
colon	glandular cells	High	Approved
duodenum	glandular cells	High	Approved
endometrium 1	cells in endometrial stroma	Low	Approved
endometrium 1	glandular cells	Medium	Approved
endometrium 2	glandular cells	Medium	Approved
epididymis	glandular cells	Low	Approved
esophagus	squamous epithelial cells	Medium	Approved
fallopian tube	glandular cells	Medium	Approved
gallbladder	glandular cells	Medium	Approved
heart muscle	cardiomyocytes	Low	Approved
hippocampus	neuronal cells	Low	Approved
kidney	cells in glomeruli	Low	Approved
kidney	cells in tubules	Medium	Approved
liver	hepatocytes	Low	Approved
lung	alveolar cells type I	High	Approved
lung	alveolar cells type II	High	Approved
lung	endothelial cells	Medium	Approved
lung	macrophages	Medium	Approved
nasopharynx	respiratory epithelial cells	Medium	Approved
oral mucosa	squamous epithelial cells	Low	Approved
ovary	follicle cells	Medium	Approved
ovary	ovarian stroma cells	Medium	Approved
pancreas	exocrine glandular cells	Medium	Approved
pancreas	pancreatic endocrine cells	Medium	Approved
parathyroid gland	glandular cells	Medium	Approved
placenta	decidual cells	High	Approved
placenta	trophoblastic cells	High	Approved
prostate	glandular cells	Medium	Approved
rectum	glandular cells	High	Approved
salivary gland	glandular cells	Low	Approved
skin 1	Langerhans	Low	Approved
skin 1	fibroblasts	Medium	Approved
skin 1	keratinocytes	Medium	Approved
skin 1	melanocytes	Low	Approved
skin 2	epidermal cells	Medium	Approved
small intestine	glandular cells	High	Approved
smooth muscle	smooth muscle cells	Low	Approved
spleen	cells in red pulp	Medium	Approved
stomach 1	glandular cells	Medium	Approved
stomach 2	glandular cells	Medium	Approved
testis	Leydig cells	Medium	Approved
testis	sertoli cells	Medium	Approved
testis	spermatogonia cells	Medium	Approved
thyroid gland	glandular cells	Medium	Approved
tonsil	germinal center cells	Low	Approved
tonsil	non-germinal center cells	Low	Approved
tonsil	squamous epithelial cells	Medium	Approved
urinary bladder	urothelial cells	Medium	Approved
vagina	squamous epithelial cells	Low	Approved

Disease name	MONDO ID	ICD10	ICD10 chapter	OMIM	Orphanet
gastric adenocarcinoma	MONDO:0005036	C16	chapter2, Neoplasms		Orphanet:464463
lung adenocarcinoma	MONDO:0005061	C34	chapter2, Neoplasms		Orphanet:415268
prostate adenocarcinoma	MONDO:0005082	C61	chapter2, Neoplasms
colorectal cancer	MONDO:0005575	C18	chapter2, Neoplasms	OMIM:114500	Orphanet:466667
pancreatic adenocarcinoma	MONDO:0006047	C25	chapter2, Neoplasms
myhre syndrome	MONDO:0007688	Q87	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIM:139210	Orphanet:2588
generalized juvenile polyposis/juvenile polyposis coli	MONDO:0008276	D12	chapter2, Neoplasms		Orphanet:329971
juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	MONDO:0008278	D12	chapter2, Neoplasms	OMIM:175050
telangiectasia, hereditary hemorrhagic, type 1	MONDO:0008535	I78	chapter9, Diseases of the circulatory system	OMIM:187300
head and neck squamous cell carcinoma	MONDO:0010150	C76	chapter2, Neoplasms	OMIM:275355	Orphanet:67037
familial pancreatic carcinoma	MONDO:0015278	C25	chapter2, Neoplasms	OMIM:260350	Orphanet:1333
carcinoma of esophagus	MONDO:0019086	C15	chapter2, Neoplasms		Orphanet:70482
familial thoracic aortic aneurysm and aortic dissection	MONDO:0019625	I71	chapter9, Diseases of the circulatory system	OMIMPS:607086	Orphanet:91387
familial thoracic aortic aneurysm and aortic dissection	MONDO:0019625	Q87	chapter17, Congenital malformations, deformations and chromosomal abnormalities	OMIMPS:607086	Orphanet:91387
breast neoplasm	MONDO:0021100	C50	chapter2, Neoplasms
uterine cervix neoplasm	MONDO:0021230	-	-

Summary of Q13485

Gene: SMAD4, DPC4, MADH4
Protein: Mothers against decapentaplegic homolog 4

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Summary of Q13485

Gene: SMAD4, DPC4, MADH4 Protein: Mothers against decapentaplegic homolog 4

Structure

GO term

InterPro / Pfam

Reactome

Subcellular location

Interactor | Variant | Drug

Phenotype

Tissue and cell type

Disease

Gene: SMAD4, DPC4, MADH4
Protein: Mothers against decapentaplegic homolog 4