C-It-Loci: A knowledge database for tissue-enriched loci.

Institute of Cardiovascular Regeneration, Goethe-University Frankfurt am Main

Gene Info

Description: SMAD family member 4
Gene AccessionGene NameTax IDStrandPositionGene Biotype
ENSG00000141646 SMAD4 9606 + 18:51028394-51085045 protein_coding
  Transcript Accession Transcript Name Position Transcript Biotype
  ENST00000342988 SMAD4-201 51030213-51085039 protein_coding
  ENST00000398417 SMAD4-001 51029614-51085045 protein_coding
  ENST00000585448 SMAD4-015 51051093-51054916 retained_intron
  ENST00000586253 SMAD4-014 51077251-51078870 processed_transcript
  ENST00000588745 SMAD4-004 51047047-51078467 protein_coding
  ENST00000588860 SMAD4-016 51028394-51048816 protein_coding
  ENST00000589076 SMAD4-006 51030100-51048708 protein_coding
  ENST00000589706 SMAD4-011 51047179-51049565 retained_intron
  ENST00000589941 SMAD4-010 51044959-51048798 protein_coding
  ENST00000590061 SMAD4-007 51030213-51048857 protein_coding
  ENST00000590499 SMAD4-012 51066822-51077291 retained_intron
  ENST00000591126 SMAD4-002 51052326-51079777 retained_intron
  ENST00000591914 SMAD4-008 51030213-51049324 protein_coding
  ENST00000592186 SMAD4-005 51047047-51078467 nonsense_mediated_decay
  ENST00000592911 SMAD4-009 51030597-51058154 processed_transcript
  ENST00000593223 SMAD4-013 51067113-51077130 protein_coding
  ENST00000611848 SMAD4-017 51058353-51079143 nonsense_mediated_decay

Expression Patterns

Heat Map
Numeric Values
Transcript'; AdiposeAdrenalBladderBrainBreastColonHeartKidneyLiverLungMuscleOvaryPlacentaTestisENST00000342988ENST00000398417ENST00000588745ENST00000591126ENST00000592186ENST00000611848
Transcript ID Adipose Adrenal Bladder Brain Breast Colon Heart Kidney Liver Lung Muscle Ovary Placenta Testis
ENST00000342988 5.577±0.00 3.740±0.00 N/A 2.460±0.70 4.165±1.90 3.429±1.89 3.613±1.47 3.907±2.17 2.510±0.16 3.679±1.20 6.330±4.14 5.133±2.82 3.287±0.24 4.249±2.60
ENST00000398417 N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A N/A 2.095±0.47
ENST00000588745 N/A N/A N/A N/A 5.760±0.00 9.147±0.00 5.038±0.00 N/A 11.815±0.00 N/A 4.510±0.00 N/A 7.745±0.00 5.197±0.00
ENST00000591126 N/A N/A 3.286±0.00 N/A 1.638±0.00 3.244±0.00 1.267±0.00 2.169±0.00 N/A N/A N/A 4.425±0.00 N/A N/A
ENST00000592186 N/A N/A N/A 7.743±0.00 N/A N/A N/A 7.229±0.00 N/A 13.136±0.00 4.083±0.00 N/A N/A N/A
ENST00000611848 N/A N/A N/A N/A N/A 10.940±0.00 10.378±0.00 11.773±0.00 N/A 9.103±0.00 3.192±0.00 N/A 10.337±1.17 N/A

Conserved Regions

Gene is not located within a conserved region.

Gene Ontology

GO IDEvidence TypeGO Description
GO:0000122 TAS negative regulation of transcription from RNA polymerase II promoter
GO:0000790 IDA nuclear chromatin
GO:0000987 IDA core promoter proximal region sequence-specific DNA binding
GO:0000988 IDA protein binding transcription factor activity
GO:0001076 IEA RNA polymerase II transcription factor binding transcription factor activity
GO:0001085 IEA RNA polymerase II transcription factor binding
GO:0001658 IEA branching involved in ureteric bud morphogenesis
GO:0001666 IMP response to hypoxia
GO:0001701 IEA in utero embryonic development
GO:0001702 IEA gastrulation with mouth forming second
GO:0001822 IEA kidney development
GO:0003190 IEA atrioventricular valve formation
GO:0003198 IEA epithelial to mesenchymal transition involved in endocardial cushion formation
GO:0003251 IEA positive regulation of cell proliferation involved in heart valve morphogenesis
GO:0003279 IEA cardiac septum development
GO:0003360 IEA brainstem development
GO:0003677 IDA DNA binding
GO:0003682 IEA chromatin binding
GO:0003700 IDA:IEA sequence-specific DNA binding transcription factor activity
GO:0005515 IPI:IEA protein binding
GO:0005518 IEA collagen binding
GO:0005622 IEA intracellular
GO:0005634 IDA nucleus
GO:0005654 TAS nucleoplasm
GO:0005667 IPI:IEA transcription factor complex
GO:0005737 IDA cytoplasm
GO:0005813 IDA centrosome
GO:0005829 TAS cytosol
GO:0006351 TAS transcription, DNA-templated
GO:0006355 IEA regulation of transcription, DNA-templated
GO:0006357 IEA regulation of transcription from RNA polymerase II promoter
GO:0006366 IEA transcription from RNA polymerase II promoter
GO:0006367 TAS transcription initiation from RNA polymerase II promoter
GO:0007179 IDA:IEA transforming growth factor beta receptor signaling pathway
GO:0007183 IDA SMAD protein complex assembly
GO:0007369 IEA gastrulation
GO:0007411 IEA axon guidance
GO:0007492 IEA endoderm development
GO:0007498 IEA mesoderm development
GO:0008283 IEA cell proliferation
GO:0008285 IEA negative regulation of cell proliferation
GO:0009952 IEA anterior/posterior pattern specification
GO:0010467 TAS gene expression
GO:0010718 ISS positive regulation of epithelial to mesenchymal transition
GO:0010862 ISS positive regulation of pathway-restricted SMAD protein phosphorylation
GO:0014033 IEA neural crest cell differentiation
GO:0017015 IMP regulation of transforming growth factor beta receptor signaling pathway
GO:0030308 IDA negative regulation of cell growth
GO:0030509 IDA BMP signaling pathway
GO:0030511 IDA positive regulation of transforming growth factor beta receptor signaling pathway
GO:0030513 IMP positive regulation of BMP signaling pathway
GO:0030616 IDA transforming growth factor beta receptor, common-partner cytoplasmic mediator activity
GO:0032444 IDA activin responsive factor complex
GO:0032525 IEA somite rostral/caudal axis specification
GO:0032909 IMP regulation of transforming growth factor beta2 production
GO:0035556 IDA intracellular signal transduction
GO:0036302 IEA atrioventricular canal development
GO:0042118 IEA endothelial cell activation
GO:0042127 IEA regulation of cell proliferation
GO:0042177 IMP negative regulation of protein catabolic process
GO:0042802 IPI identical protein binding
GO:0042803 IPI protein homodimerization activity
GO:0043565 IDA sequence-specific DNA binding
GO:0044212 IDA transcription regulatory region DNA binding
GO:0045892 IDA negative regulation of transcription, DNA-templated
GO:0045893 IDA positive regulation of transcription, DNA-templated
GO:0045944 IDA positive regulation of transcription from RNA polymerase II promoter
GO:0046872 IEA metal ion binding
GO:0048589 IEA developmental growth
GO:0048663 IEA neuron fate commitment
GO:0048729 IEA tissue morphogenesis
GO:0048733 IEA sebaceous gland development
GO:0048859 IEA formation of anatomical boundary
GO:0051098 IEA regulation of binding
GO:0051797 IEA regulation of hair follicle development
GO:0060021 ISS palate development
GO:0060391 ISS positive regulation of SMAD protein import into nucleus
GO:0060395 IDA SMAD protein signal transduction
GO:0060548 IEA negative regulation of cell death
GO:0060956 IEA endocardial cell differentiation
GO:0070411 IPI I-SMAD binding
GO:0070412 IPI R-SMAD binding
GO:0071141 IDA SMAD protein complex
GO:0071559 IDA response to transforming growth factor beta
GO:0072133 IEA metanephric mesenchyme morphogenesis
GO:0072134 IEA nephrogenic mesenchyme morphogenesis

Homologs

ENSEMBL Accession Gene Name Description Biotype Species
ENSDARG00000086530 SMAD family member 4 protein_coding Danio_rerio
ENSMUSG00000024515 Smad4 SMAD family member 4 protein_coding Mus_musculus

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