AutismKB 2.0

Annotation Details for SMAD4


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Basic Information Top
Gene Symbol:SMAD4 ( DPC4,JIP,MADH4 )
Gene Full Name: SMAD family member 4
Band: 18q21.2
Quick LinksEntrez ID:4089; OMIM: 600993; Uniprot ID:SMAD4_HUMAN; ENSEMBL ID: ENSG00000141646; HGNC ID: 6770
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000790IDA-nuclear chromatin21828274
GO:0005634IDA-nucleus9311995
GO:0005654IDA-nucleoplasm-
GO:0005654TAS-nucleoplasm-
GO:0005667IDA-transcription factor complex17438144
GO:0005667IPI-transcription factor complex12374795
GO:0005737IDA-cytoplasm9311995
GO:0005813IDA-centrosome-
GO:0005829IDA-cytosol-
GO:0005829TAS-cytosol-
GO:0032444IDA-activin responsive factor complex9389648
GO:0071141IDA-SMAD protein complex18832382
GO:0071141IMP-SMAD protein complex10647180
GO ID Evidence Qualifier GO_term References
GO:0000978IDA-RNA polymerase II core promoter proximal region sequence-specific DNA binding9389648
GO:0000987IDA-core promoter proximal region sequence-specific DNA binding18832382
GO:0000988IDAcontributes_totranscription factor activity, protein binding18832382
GO:0001076IEA-transcription factor activity, RNA polymerase II transcription factor binding-
GO:0001077IDA-transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding9389648
GO:0001085IEA-RNA polymerase II transcription factor binding-
GO:0003677IDAcontributes_toDNA binding9389648
GO:0003682IEA-chromatin binding-
GO:0003700IDAcontributes_totranscription factor activity, sequence-specific DNA binding10823886
GO:0005515IPI-protein binding9389648
GO:0005518IEA-collagen binding-
GO:0030616IDA-transforming growth factor beta receptor, common-partner cytoplasmic mediator activity9389648
GO:0042802IMP-identical protein binding10647180
GO:0042802IPI-identical protein binding9111321
GO:0042803IPI-protein homodimerization activity8774881
GO:0043199IMP-sulfate binding10647180
GO:0043565IDAcontributes_tosequence-specific DNA binding10823886
GO:0044212IDA-transcription regulatory region DNA binding17438144
GO:0046872IEA-metal ion binding-
GO:0046982IEA-protein heterodimerization activity-
GO:0070411IPI-I-SMAD binding9256479
GO:0070412IPI-R-SMAD binding8774881
GO ID Evidence Qualifier GO_term References
GO:0000122ISS-negative regulation of transcription from RNA polymerase II promoter-
GO:0000122TAS-negative regulation of transcription from RNA polymerase II promoter-
GO:0001541IEA-ovarian follicle development-
GO:0001658IEA-branching involved in ureteric bud morphogenesis-
GO:0001666IMP-response to hypoxia12411310
GO:0001701IEA-in utero embryonic development-
GO:0001702IEA-gastrulation with mouth forming second-
GO:0003148ISS-outflow tract septum morphogenesis-
GO:0003190IEA-atrioventricular valve formation-
GO:0003198IEA-epithelial to mesenchymal transition involved in endocardial cushion formation-
GO:0003220ISS-left ventricular cardiac muscle tissue morphogenesis-
GO:0003251IEA-positive regulation of cell proliferation involved in heart valve morphogenesis-
GO:0003360IEA-brainstem development-
GO:0006366IEA-transcription from RNA polymerase II promoter-
GO:0006879ISS-cellular iron ion homeostasis-
GO:0007179IDA-transforming growth factor beta receptor signaling pathway9389648
GO:0007179ISS-transforming growth factor beta receptor signaling pathway-
GO:0007179TAS-transforming growth factor beta receptor signaling pathway-
GO:0007183IDA-SMAD protein complex assembly10823886
GO:0007283IEA-spermatogenesis-
GO:0007338IEA-single fertilization-
GO:0007411IEA-axon guidance-
GO:0007492IEA-endoderm development-
GO:0007498IEA-mesoderm development-
GO:0008283IEA-cell proliferation-
GO:0008285IEA-negative regulation of cell proliferation-
GO:0010614ISS-negative regulation of cardiac muscle hypertrophy-
GO:0010718ISS-positive regulation of epithelial to mesenchymal transition-
GO:0010862ISS-positive regulation of pathway-restricted SMAD protein phosphorylation-
GO:0014033IEA-neural crest cell differentiation-
GO:0016579TAS-protein deubiquitination-
GO:0017015IMP-regulation of transforming growth factor beta receptor signaling pathway8774881
GO:0030308IDA-negative regulation of cell growth8774881
GO:0030509IDA-BMP signaling pathway9389648
GO:0030509ISS-BMP signaling pathway-
GO:0030509TAS-BMP signaling pathway-
GO:0030511IDA-positive regulation of transforming growth factor beta receptor signaling pathway19328798
GO:0030513IMP-positive regulation of BMP signaling pathway19366699
GO:0032525IEA-somite rostral/caudal axis specification-
GO:0032909IMP-regulation of transforming growth factor beta2 production12411310
GO:0033686IEA-positive regulation of luteinizing hormone secretion-
GO:0035019TAS-somatic stem cell population maintenance-
GO:0035556IMP-intracellular signal transduction22316667
GO:0036302IEA-atrioventricular canal development-
GO:0042118IEA-endothelial cell activation-
GO:0042733IEA-embryonic digit morphogenesis-
GO:0045892IDA-negative regulation of transcription, DNA-templated8774881
GO:0045893IDA-positive regulation of transcription, DNA-templated8774881
GO:0045944IDA-positive regulation of transcription from RNA polymerase II promoter9389648
GO:0045944ISS-positive regulation of transcription from RNA polymerase II promoter-
GO:0045944TAS-positive regulation of transcription from RNA polymerase II promoter-
GO:0046881IEA-positive regulation of follicle-stimulating hormone secretion-
GO:0048589IEA-developmental growth-
GO:0048663IEA-neuron fate commitment-
GO:0048733IEA-sebaceous gland development-
GO:0048859IEA-formation of anatomical boundary-
GO:0051098IEA-regulation of binding-
GO:0051571ISS-positive regulation of histone H3-K4 methylation-
GO:0051797IEA-regulation of hair follicle development-
GO:0060021ISS-palate development-
GO:0060065IEA-uterus development-
GO:0060391ISS-positive regulation of SMAD protein import into nucleus-
GO:0060395IDA-SMAD protein signal transduction9707553
GO:0060412ISS-ventricular septum morphogenesis-
GO:0060548IEA-negative regulation of cell death-
GO:0060956IEA-endocardial cell differentiation-
GO:0061040IEA-female gonad morphogenesis-
GO:0070102ISS-interleukin-6-mediated signaling pathway-
GO:0070207IMP-protein homotrimerization10647180
GO:0070373ISS-negative regulation of ERK1 and ERK2 cascade-
GO:0071559IDA-response to transforming growth factor beta9707553
GO:0071773NAS-cellular response to BMP stimulus14687659
GO:0072133IEA-metanephric mesenchyme morphogenesis-
GO:0072134IEA-nephrogenic mesenchyme morphogenesis-
GO:0072520IEA-seminiferous tubule development-
GO:1901522TAS-positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus14687659
GO:1905305ISS-negative regulation of cardiac myofibril assembly-
GO:2000617ISS-positive regulation of histone H3-K9 acetylation-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
SMAD4AKT110671016362038 Affinity Capture-Western
SMAD4AKT111026416362038 Affinity Capture-Western
SMAD4AR11026412226080 Affinity Capture-Western; Reconstituted Complex
SMAD4AR10686212226080 Affinity Capture-Western; Reconstituted Complex
SMAD4NKX3-210705514612411 Affinity Capture-Western; Reconstituted Complex
SMAD4NKX3-211026414612411 Affinity Capture-Western; Reconstituted Complex
SMAD4CAMK2G10726811027280 Biochemical Activity
SMAD4CAMK2G11026411027280 Biochemical Activity
SMAD4CEBPA11026412524424 Reconstituted Complex
SMAD4CEBPA10747912524424 Reconstituted Complex
SMAD4CEBPB11026412524424 Reconstituted Complex
SMAD4CEBPB10748012524424 Reconstituted Complex
SMAD4CEBPD11026412524424 Affinity Capture-Western; Reconstituted Complex
SMAD4CEBPD10748112524424 Affinity Capture-Western; Reconstituted Complex
SMAD4ATF211026410085140 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
SMAD4ATF210777610085140 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
SMAD4CTNNB110788012000714 Affinity Capture-Western
SMAD4CTNNB111026412000714 Affinity Capture-Western
SMAD4DAXX10798515637079 Affinity Capture-Western; Two-hybrid
SMAD4DAXX11026415637079 Affinity Capture-Western; Two-hybrid
SMAD4DLX110808914671321 Affinity Capture-Western
SMAD4DLX111026414671321 Affinity Capture-Western
SMAD4DVL110818812650946 Reconstituted Complex
SMAD4DVL111026412650946 Reconstituted Complex
SMAD4EP30010834710887155 18215124 Affinity Capture-Western
SMAD4EP30011026410887155 18215124 Affinity Capture-Western
SMAD4MECOM10842315849193 Reconstituted Complex
SMAD4MECOM11026415849193 Reconstituted Complex
SMAD4EWSR110843116189514 Two-hybrid
SMAD4EWSR111026416189514 Two-hybrid
SMAD4FOXO111026415084259 Affinity Capture-Western
SMAD4FOXO110859715084259 Affinity Capture-Western
SMAD4FOXO310859815084259 Affinity Capture-Western
SMAD4FOXO311026415084259 Affinity Capture-Western
SMAD4GATA210889420211142 Two-hybrid
SMAD4GATA211026420211142 Two-hybrid
SMAD4HDAC110931514699069 Affinity Capture-Western
SMAD4HDAC111026414699069 Affinity Capture-Western
SMAD4HOXA910944511042172 Affinity Capture-Western
SMAD4HOXA911026411042172 Affinity Capture-Western
SMAD4HOXC810946410224145 Affinity Capture-Western
SMAD4HOXC811026410224145 Affinity Capture-Western
SMAD4JUNB10992910220381 Reconstituted Complex
SMAD4JUNB11026410220381 Reconstituted Complex
SMAD4KPNB111026410846168 Affinity Capture-Western
SMAD4KPNB111003510846168 Affinity Capture-Western
SMAD4SMAD111026110531362 11700304 12167862 12874272 Affinity Capture-Western; Co-fractionation
SMAD4SMAD111026410531362 11700304 12167862 12874272 Affinity Capture-Western; Co-fractionation
SMAD4SMAD21102629288972 9311995 9892009 10199400 10531362 11027280 11102446 11114293 11264182 11274206 12167862 12419246 12732634 12794086 12808092 15817471 18783722 Affinity Capture-Western; Co-fractionation; Reconstituted Complex; Two-hybrid
SMAD4SMAD21102649288972 9311995 9892009 10199400 10531362 11027280 11102446 11114293 11264182 11274206 12167862 12419246 12732634 12794086 12808092 15817471 18783722 Affinity Capture-Western; Co-fractionation; Reconstituted Complex; Two-hybrid
SMAD4SMAD31102639311995 9892009 10531362 11114293 12167862 12419246 12732634 12794086 15084259 20142324 Affinity Capture-Western; Reconstituted Complex
SMAD4SMAD31102649311995 9892009 10531362 11114293 12167862 12419246 12732634 12794086 15084259 20142324 Affinity Capture-Western; Reconstituted Complex
SMAD6SMAD41102669256479 15817471 Affinity Capture-Western
SMAD6SMAD41102649256479 15817471 Affinity Capture-Western
FOXH1SMAD41102649288972 Reconstituted Complex; Two-hybrid
FOXH1SMAD41144429288972 Reconstituted Complex; Two-hybrid
CITED1SMAD41105729707553 Two-hybrid
CITED1SMAD41102649707553 Two-hybrid
SMAD7SMAD41102679892009 15817471 17438144 Affinity Capture-Western; Phenotypic Suppression; Reconstituted Complex
SMAD7SMAD41102649892009 15817471 17438144 Affinity Capture-Western; Phenotypic Suppression; Reconstituted Complex
SKILSMAD411238910531062 Affinity Capture-MS; Affinity Capture-Western
SKILSMAD411026410531062 Affinity Capture-MS; Affinity Capture-Western
SKISMAD411026410531062 12419246 12732634 12857746 12874272 14699069 19032343 Affinity Capture-MS; Affinity Capture-Western; Co-crystal Structure; Reconstituted Complex
SKISMAD411238810531062 12419246 12732634 12857746 12874272 14699069 19032343 Affinity Capture-MS; Affinity Capture-Western; Co-crystal Structure; Reconstituted Complex
SMAD5SMAD411026510531362 Affinity Capture-Western
SMAD5SMAD411026410531362 Affinity Capture-Western
TFE3SMAD411288810557285 12551947 Reconstituted Complex
TFE3SMAD411026410557285 12551947 Reconstituted Complex
SMAD9SMAD411026410583507 16189514 Affinity Capture-Western; Two-hybrid
SMAD9SMAD411026810583507 16189514 Affinity Capture-Western; Two-hybrid
ZNF423SMAD411671810660046 Affinity Capture-Western
ZNF423SMAD411026410660046 Affinity Capture-Western
SNIP1SMAD411026410887155 Reconstituted Complex
SNIP1SMAD412286410887155 Reconstituted Complex
LEF1SMAD411935410890911 Reconstituted Complex
LEF1SMAD411026410890911 Reconstituted Complex
TGFBR1SMAD411026411102446 Co-fractionation
TGFBR1SMAD411290411102446 Co-fractionation
TOB1SMAD411544311163184 Affinity Capture-Western
TOB1SMAD411026411163184 Affinity Capture-Western
TGFBRAP1SMAD411479211278302 Affinity Capture-Western; Reconstituted Complex
TGFBRAP1SMAD411026411278302 Affinity Capture-Western; Reconstituted Complex
SNW1SMAD411026411278756 Phenotypic Enhancement; Two-hybrid
SNW1SMAD411659711278756 Phenotypic Enhancement; Two-hybrid
STK11IPSMAD412535211741830 Affinity Capture-Western
STK11IPSMAD411026411741830 Affinity Capture-Western
COPS5SMAD411618311818334 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
COPS5SMAD411026411818334 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
DCP1ASMAD411026411836524 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
DCP1ASMAD412091411836524 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
RBL1SMAD411026412150994 Affinity Capture-Western
RBL1SMAD411186812150994 Affinity Capture-Western
MDM4SMAD411026412483531 Reconstituted Complex
MDM4SMAD411035912483531 Reconstituted Complex
MAXSMAD411026412551947 Reconstituted Complex
MAXSMAD411031912551947 Reconstituted Complex
PARD3BSMAD411026412650946 Reconstituted Complex
PARD3BSMAD412559212650946 Reconstituted Complex
ERBB2IPSMAD412099712650946 Reconstituted Complex
ERBB2IPSMAD411026412650946 Reconstituted Complex
SUMO1SMAD411318812740389 12813045 14514699 Affinity Capture-Western
SUMO1SMAD411026412740389 12813045 14514699 Affinity Capture-Western
PIAS4SMAD411026412740389 12815042 12904571 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
PIAS4SMAD411962412740389 12815042 12904571 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
YY1SMAD411026412808092 Affinity Capture-Western; Co-localization; Reconstituted Complex
YY1SMAD411336012808092 Affinity Capture-Western; Co-localization; Reconstituted Complex
UBCSMAD411026412813045 15314162 15817471 15855639 16865698 Affinity Capture-Western
UBCSMAD411316412813045 15314162 15817471 15855639 16865698 Affinity Capture-Western
EID2SMAD411026414612439 Affinity Capture-Western
EID2SMAD412785214612439 Affinity Capture-Western
PIAS3SMAD411026414691252 Affinity Capture-Western; Reconstituted Complex
PIAS3SMAD411567314691252 Affinity Capture-Western; Reconstituted Complex
BTRCSMAD411445714988407 15314162 15855639 16865698 Affinity Capture-Western; Two-hybrid
BTRCSMAD411026414988407 15314162 15855639 16865698 Affinity Capture-Western; Two-hybrid
FOXO4SMAD411026415084259 Affinity Capture-Western
FOXO4SMAD411044915084259 Affinity Capture-Western
SKP2SMAD411239315314162 16865698 Affinity Capture-Western; Reconstituted Complex
SKP2SMAD411026415314162 16865698 Affinity Capture-Western; Reconstituted Complex
UBE2ISMAD411317715637079 16189514 Two-hybrid
UBE2ISMAD411026415637079 16189514 Two-hybrid
SMURF1SMAD412141115817471 Affinity Capture-Western
SMURF1SMAD411026415817471 Affinity Capture-Western
SP1SMAD411026418215124 Affinity Capture-Western
SP1SMAD411255018215124 Affinity Capture-Western
NF1SMAD411026418215124 Affinity Capture-Western; Reconstituted Complex
NF1SMAD411083618215124 Affinity Capture-Western; Reconstituted Complex
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:894293
  • Data Attributes: MGI curated and HomoloGene calculated
SELECT * FROM lijr_20110218_zfin_genotype_phenotype WHERE ZFIN_Gene_ID='ZDB-GENE-990603-8'