Gene: ENSG00000175387 (Homo sapiens)

Overview top

Gene Identifier
ENSG00000175387
Transcript Identifier
ENST00000402690
Gene Type
Coding gene
Location
18 : 47841827-47896756 : negative

Family Information

Homologous gene family
HOM03P003942
(24 genes in 4 species)
specific family
Orthologous gene family
ORTHO03P007471
(11 genes in 4 species)
specific family
Duplication type
Tandem duplicate

Descriptions

gene_descr
SMAD family member 2

Identifiers

Type Value
pidENSP00000384449
HGNC6768
UniprotQ15796
UniprotQ53XR6

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Biological Process

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0000122
TAS
Genome Projectnegative regulation of transcription from RNA polymerase II promoter
GO:0001657
IEA
Genome Projectureteric bud development
GO:0001701
IEA
Genome Projectin utero embryonic development
GO:0001706
IEA
Genome Projectendoderm formation
GO:0001707
ISS
IEA
Genome Projectmesoderm formation
GO:0006351
TAS, IEA
Genome Projecttranscription, DNA-templated
GO:0006355
IEA
Genome Projectregulation of transcription, DNA-templated
GO:0006367
TAS
Genome Projecttranscription initiation from RNA polymerase II promoter
GO:0006468
IEA
Genome Projectprotein phosphorylation
GO:0007179
IDA, IMP
ISS
TAS, IEA
Genome Projecttransforming growth factor beta receptor signaling pathway
GO:0007182
IDA
Genome Projectcommon-partner SMAD protein phosphorylation
GO:0007183
IDA
Genome ProjectSMAD protein complex assembly
GO:0007352
IMP
Genome Projectzygotic specification of dorsal/ventral axis
GO:0007369
TAS, IEA
Genome Projectgastrulation
GO:0007389
IEA
Genome Projectpattern specification process
GO:0007492
IEA
Genome Projectendoderm development
GO:0007507
IEA
Genome Projectheart development
GO:0009749
IEA
Genome Projectresponse to glucose
GO:0009791
IEA
Genome Projectpost-embryonic development
GO:0009880
IEA
Genome Projectembryonic pattern specification
GO:0009952
ISS
IEA
Genome Projectanterior/posterior pattern specification
GO:0010467
TAS
Genome Projectgene expression
GO:0010628
IEA
Genome Projectpositive regulation of gene expression
GO:0010629
IEA
Genome Projectnegative regulation of gene expression
GO:0010718
ISS
IEA
Genome Projectpositive regulation of epithelial to mesenchymal transition
GO:0017015
IMP
Genome Projectregulation of transforming growth factor beta receptor signaling pathway
GO:0030073
IEA
Genome Projectinsulin secretion
GO:0030324
IEA
Genome Projectlung development
GO:0030512
TAS
Genome Projectnegative regulation of transforming growth factor beta receptor signaling pathway
GO:0030513
IMP
Genome Projectpositive regulation of BMP signaling pathway
GO:0031016
IEA
Genome Projectpancreas development
GO:0031053
TAS
Genome Projectprimary miRNA processing
GO:0032924
IMP
Genome Projectactivin receptor signaling pathway
GO:0035019
TAS
Genome Projectsomatic stem cell population maintenance
GO:0035265
IEA
Genome Projectorgan growth
GO:0035556
ISS
IEA
Genome Projectintracellular signal transduction
GO:0038092
IMP
Genome Projectnodal signaling pathway
GO:0045165
ISS
IEA
Genome Projectcell fate commitment
GO:0045892
IMP
Genome Projectnegative regulation of transcription, DNA-templated
GO:0045893
IDA, IMP
ISS
Genome Projectpositive regulation of transcription, DNA-templated
GO:0045944
IDA
ISS
TAS
Genome Projectpositive regulation of transcription from RNA polymerase II promoter
GO:0048340
ISS
IEA
Genome Projectparaxial mesoderm morphogenesis
GO:0048589
IEA
Genome Projectdevelopmental growth
GO:0048617
IEA
Genome Projectembryonic foregut morphogenesis
GO:0048701
IEA
Genome Projectembryonic cranial skeleton morphogenesis
GO:0051098
ISS
IEA
Genome Projectregulation of binding
GO:0060021
ISS
IEA
Genome Projectpalate development
GO:0060039
IEA
Genome Projectpericardium development
GO:0060395
IEA
Genome ProjectSMAD protein signal transduction
GO:0070723
IDA
Genome Projectresponse to cholesterol
GO:1900224
IMP
Genome Projectpositive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry

Molecular Function

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0000978
IDA
Genome ProjectRNA polymerase II core 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:0003677
IDA
IEA
Genome ProjectDNA binding
GO:0003682
IEA
Genome Projectchromatin binding
GO:0003690
ISS
IEA
Genome Projectdouble-stranded DNA binding
GO:0003700
IDA
IEA
Genome Projecttranscription factor activity, sequence-specific DNA binding
GO:0005160
IPI
Genome Projecttransforming growth factor beta receptor binding
GO:0005515
IPI
Genome Projectprotein binding
GO:0008134
IPI
ISS
Genome Projecttranscription factor binding
GO:0019902
IPI
Genome Projectphosphatase binding
GO:0030618
IDA
Genome Projecttransforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity
GO:0031625
IPI
Genome Projectubiquitin protein ligase binding
GO:0033613
IPI
Genome Projectactivating transcription factor binding
GO:0034713
IPI
Genome Projecttype I transforming growth factor beta receptor binding
GO:0035326
IC
Genome Projectenhancer binding
GO:0042803
IEA
Genome Projectprotein homodimerization activity
GO:0046332
IPI
Genome ProjectSMAD binding
GO:0046872
IEA
Genome Projectmetal ion binding
GO:0046982
IEA
Genome Projectprotein heterodimerization activity
GO:0070410
IPI
Genome Projectco-SMAD binding
GO:0070411
IPI
Genome ProjectI-SMAD binding
GO:0070412
IPI
Genome ProjectR-SMAD binding

Cellular Component

GO termEvidence(s)Provider(s)DescriptionSource(s)
GO:0000790
IDA
Genome Projectnuclear chromatin
GO:0005622
IEA
Genome Projectintracellular
GO:0005634
IDA
ISS
IEA
Genome Projectnucleus
GO:0005654
TAS
Genome Projectnucleoplasm
GO:0005667
IDA
ISS
IEA
Genome Projecttranscription factor complex
GO:0005737
IDA
IEA
Genome Projectcytoplasm
GO:0005829
TAS
Genome Projectcytosol
GO:0032444
IDA
Genome Projectactivin responsive factor complex
GO:0071141
IDA
Genome ProjectSMAD protein complex
GO:0071144
IDA
Genome ProjectSMAD2-SMAD3 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.