Hs06447834_cn

• Gene Symbol: SMAD4
• Assay Reference Genome Location: Chr.18:51045183 on build GRCh38
• Cytoband: 18q21.2

Target Gene Details

• Entrez Gene ID: 4089
• Gene Name: SMAD family member 4
• Gene Aliases: DPC4, JIP, MADH4, MYHRS
• Location: Chr.18:51030213-51085042 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SMAD4	NM_005359.5			NP_005350.1
	AK290770.1
	AU120224.1
	BC002379.2			AAH02379.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
esv3583062	Chr.18:51044505 - 51045924 on Build GRCh38	Loss	SMAD4

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

DNA-binding transcription factor, gene-specific transcriptional regulator

Gene Ontology Categories:

Process(es)

negative regulation of transcription from RNA polymerase II promoter
ovarian follicle development
branching involved in ureteric bud morphogenesis
response to hypoxia
in utero embryonic development
gastrulation with mouth forming second
atrioventricular valve formation
epithelial to mesenchymal transition involved in endocardial cushion formation
left ventricular cardiac muscle tissue morphogenesis
positive regulation of cell proliferation involved in heart valve morphogenesis
brainstem development
transcription from RNA polymerase II promoter
cellular iron ion homeostasis
transforming growth factor beta receptor signaling pathway
SMAD protein complex assembly
spermatogenesis
single fertilization
axon guidance
endoderm development
mesoderm development
cell proliferation
negative regulation of cell proliferation
negative regulation of cardiac muscle hypertrophy
positive regulation of epithelial to mesenchymal transition
positive regulation of pathway-restricted SMAD protein phosphorylation
neural crest cell differentiation
regulation of transforming growth factor beta receptor signaling pathway
negative regulation of cell growth
BMP signaling pathway
positive regulation of transforming growth factor beta receptor signaling pathway
positive regulation of BMP signaling pathway
somite rostral/caudal axis specification
regulation of transforming growth factor beta2 production
positive regulation of luteinizing hormone secretion
somatic stem cell population maintenance
intracellular signal transduction
atrioventricular canal development
endothelial cell activation
embryonic digit morphogenesis
negative regulation of transcription, DNA-templated
positive regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter
positive regulation of follicle-stimulating hormone secretion
developmental growth
neuron fate commitment
sebaceous gland development
formation of anatomical boundary
regulation of binding
positive regulation of histone H3-K4 methylation
regulation of hair follicle development
palate development
uterus development
positive regulation of SMAD protein import into nucleus
SMAD protein signal transduction
ventricular septum morphogenesis
negative regulation of cell death
endocardial cell differentiation
female gonad morphogenesis
interleukin-6-mediated signaling pathway
negative regulation of ERK1 and ERK2 cascade
response to transforming growth factor beta
cellular response to BMP stimulus
metanephric mesenchyme morphogenesis
nephrogenic mesenchyme morphogenesis
seminiferous tubule development
positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus
positive regulation of histone H3-K9 acetylation

Function(s)

RNA polymerase II core promoter proximal region sequence-specific DNA binding
core promoter proximal region sequence-specific DNA binding
transcription factor activity, protein binding
transcription factor activity, RNA polymerase II transcription factor binding
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
RNA polymerase II transcription factor binding
DNA binding
chromatin binding
transcription factor activity, sequence-specific DNA binding
protein binding
collagen binding
transforming growth factor beta receptor, common-partner cytoplasmic mediator activity
identical protein binding
protein homodimerization activity
sequence-specific DNA binding
transcription regulatory region DNA binding
metal ion binding
protein heterodimerization activity
I-SMAD binding
R-SMAD binding