Gene: ENSG00000141646 (Homo sapiens)

Overview top

Gene Identifier
ENSG00000141646
Transcript Identifier
ENST00000342988
Gene Type
Coding gene
Location
18 : 51047047-51078467 : positive

Family Information

Homologous gene family
HOM03P003942
(24 genes in 4 species)
specific family
Orthologous gene family
ORTHO03P076178
(2 genes in 2 species)
specific family
Duplication type
Tandem duplicate

Descriptions

gene_descr
SMAD family member 4

Identifiers

Type Value
pidENSP00000341551
HGNC6770
UniprotQ13485
UniprotA0A024R274

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Biological Process

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0001658
IEA
Genome Projectbranching involved in ureteric bud morphogenesis
GO:0001701
IEA
Genome Projectin utero embryonic development
GO:0001702
IEA
Genome Projectgastrulation with mouth forming second
GO:0001822
IEA
Genome Projectkidney development
GO:0003190
IEA
Genome Projectatrioventricular valve formation
GO:0003198
IEA
Genome Projectepithelial to mesenchymal transition involved in endocardial cushion formation
GO:0003251
IEA
Genome Projectpositive regulation of cell proliferation involved in heart valve morphogenesis
GO:0003279
IEA
Genome Projectcardiac septum development
GO:0003360
IEA
Genome Projectbrainstem development
GO:0006351
TAS, IEA
Genome Projecttranscription, DNA-templated
GO:0006355
IEA
Genome Projectregulation of transcription, DNA-templated
GO:0006357
IEA
Genome Projectregulation of transcription from RNA polymerase II promoter
GO:0006366
IEA
Genome Projecttranscription from RNA polymerase II promoter
GO:0007179
IDA
ISS
TAS, IEA
Genome Projecttransforming growth factor beta receptor signaling pathway
GO:0007369
IEA
Genome Projectgastrulation
GO:0007411
IEA
Genome Projectaxon guidance
GO:0007492
IEA
Genome Projectendoderm development
GO:0007498
IEA
Genome Projectmesoderm development
GO:0008283
IEA
Genome Projectcell proliferation
GO:0008285
IEA
Genome Projectnegative regulation of cell proliferation
GO:0009952
IEA
Genome Projectanterior/posterior pattern specification
GO:0010718
ISS
IEA
Genome Projectpositive regulation of epithelial to mesenchymal transition
GO:0010862
ISS
IEA
Genome Projectpositive regulation of pathway-restricted SMAD protein phosphorylation
GO:0014033
IEA
Genome Projectneural crest cell differentiation
GO:0032525
IEA
Genome Projectsomite rostral/caudal axis specification
GO:0036302
IEA
Genome Projectatrioventricular canal development
GO:0042118
IEA
Genome Projectendothelial cell activation
GO:0042127
IEA
Genome Projectregulation of cell proliferation
GO:0042733
IEA
Genome Projectembryonic digit morphogenesis
GO:0045944
IDA
ISS
TAS, IEA
Genome Projectpositive regulation of transcription from RNA polymerase II promoter
GO:0048589
IEA
Genome Projectdevelopmental growth
GO:0048663
IEA
Genome Projectneuron fate commitment
GO:0048729
IEA
Genome Projecttissue morphogenesis
GO:0048733
IEA
Genome Projectsebaceous gland development
GO:0048859
IEA
Genome Projectformation of anatomical boundary
GO:0051098
IEA
Genome Projectregulation of binding
GO:0051797
IEA
Genome Projectregulation of hair follicle development
GO:0060021
ISS
IEA
Genome Projectpalate development
GO:0060391
ISS
IEA
Genome Projectpositive regulation of SMAD protein import into nucleus
GO:0060548
IEA
Genome Projectnegative regulation of cell death
GO:0060956
IEA
Genome Projectendocardial cell differentiation
GO:0072133
IEA
Genome Projectmetanephric mesenchyme morphogenesis
GO:0072134
IEA
Genome Projectnephrogenic mesenchyme morphogenesis
GO:0000122
ISS
TAS
Genome Projectnegative regulation of transcription from RNA polymerase II promoter
GO:0001666
IMP
Genome Projectresponse to hypoxia
GO:0006367
TAS
Genome Projecttranscription initiation from RNA polymerase II promoter
GO:0006879
ISS
Genome Projectcellular iron ion homeostasis
GO:0007183
IDA
Genome ProjectSMAD protein complex assembly
GO:0010467
TAS
Genome Projectgene expression
GO:0017015
IMP
Genome Projectregulation of transforming growth factor beta receptor signaling pathway
GO:0030308
IDA
Genome Projectnegative regulation of cell growth
GO:0030509
IDA
TAS
Genome ProjectBMP signaling pathway
GO:0030511
IDA
Genome Projectpositive regulation of transforming growth factor beta receptor signaling pathway
GO:0030513
IMP
Genome Projectpositive regulation of BMP signaling pathway
GO:0032909
IMP
Genome Projectregulation of transforming growth factor beta2 production
GO:0035019
TAS
Genome Projectsomatic stem cell population maintenance
GO:0035556
IMP
Genome Projectintracellular signal transduction
GO:0042177
IMP
Genome Projectnegative regulation of protein catabolic process
GO:0045892
IDA
Genome Projectnegative regulation of transcription, DNA-templated
GO:0045893
IDA
Genome Projectpositive regulation of transcription, DNA-templated
GO:0051571
ISS
Genome Projectpositive regulation of histone H3-K4 methylation
GO:0060395
IDA
Genome ProjectSMAD protein signal transduction
GO:0070102
ISS
Genome Projectinterleukin-6-mediated signaling pathway
GO:0071559
IDA
Genome Projectresponse to transforming growth factor beta
GO:0071773
NAS
Genome Projectcellular response to BMP stimulus
GO:1901522
TAS
Genome Projectpositive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus
GO:2000617
ISS
Genome Projectpositive regulation of histone H3-K9 acetylation

Molecular Function

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0000977
IEA
Genome ProjectRNA polymerase II regulatory region sequence-specific DNA binding
GO:0001076
IEA
Genome Projecttranscription factor activity, RNA polymerase II transcription factor binding
GO:0001085
IEA
Genome ProjectRNA polymerase II transcription factor binding
GO:0001228
IEA
Genome Projecttranscriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding
GO:0003677
IDA
IEA
Genome ProjectDNA binding
GO:0003682
IEA
Genome Projectchromatin binding
GO:0003700
IDA
IEA
Genome Projecttranscription factor activity, sequence-specific DNA binding
GO:0005518
IEA
Genome Projectcollagen binding
GO:0046982
IEA
Genome Projectprotein heterodimerization activity
GO:0000978
IDA
Genome ProjectRNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000987
IDA
Genome Projectcore promoter proximal region sequence-specific DNA binding
GO:0001077
IDA
Genome Projecttranscriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0005515
IPI
Genome Projectprotein binding
GO:0030616
IDA
Genome Projecttransforming growth factor beta receptor, common-partner cytoplasmic mediator activity
GO:0042802
IPI
Genome Projectidentical protein binding
GO:0042803
IPI
Genome Projectprotein homodimerization activity
GO:0044212
IDA
Genome Projecttranscription regulatory region DNA binding
GO:0046872
IEA
Genome Projectmetal ion binding
GO:0070411
IPI
Genome ProjectI-SMAD binding
GO:0070412
IPI
Genome ProjectR-SMAD binding
GO:0000988
IDA
Genome Projecttranscription factor activity, protein binding
GO:0043565
IDA
Genome Projectsequence-specific DNA binding

Cellular Component

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0005622
IEA
Genome Projectintracellular
GO:0005634
IDA
IEA
Genome Projectnucleus
GO:0005667
IDA, IPI
IEA
Genome Projecttranscription factor complex
GO:0005737
IDA
IEA
Genome Projectcytoplasm
GO:0090575
IEA
Genome ProjectRNA polymerase II transcription factor complex
GO:0000790
IDA
Genome Projectnuclear chromatin
GO:0005654
IDA
TAS
Genome Projectnucleoplasm
GO:0005813
IDA
Genome Projectcentrosome
GO:0005829
TAS
Genome Projectcytosol
GO:0032444
IDA
Genome Projectactivin responsive factor complex
GO:0071141
IDA
Genome ProjectSMAD protein complex

Color Legend

Experimental Evidence
Computational Reviewed Evidence
Electronic Evidence
GO Sources:   Primary     Orthology     Homology  
Show redundant parents:  
 
InterPro Description
IPR001132SMAD domain, Dwarfin-type
IPR003619MAD homology 1, Dwarfin-type
IPR008984SMAD/FHA domain
IPR013019MAD homology, MH1
IPR013790Dwarfin
IPR017855SMAD domain-like

No MapMan annotations defined for this gene.