Hs05330476_cn

• Gene Symbol: SMAD3
• Assay Reference Genome Location: Chr.15:67090982 on build GRCh38
• Cytoband: 15q22.33

Target Gene Details

• Entrez Gene ID: 4088
• Gene Name: SMAD family member 3
• Gene Aliases: HSPC193, HsT17436, JV15-2, LDS1C, LDS3, MADH3
• Location: Chr.15:67065698-67195195 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SMAD3	NM_005902.3			NP_005893.1
	XM_011521559.2			XP_011519861.1
	AB209616.1			BAD92853.1
	AI762628.1
	AK290881.1
	BC050743.1			AAH50743.1
	BF058230.1
	U68019.1			AAB80960.1
	U76622.1			AAB18967.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv569797	Chr.15:67030906 - 67092995 on Build GRCh38	Loss	SMAD3 LOC102723493

More Information

Additional Information:

For this assay, SNP(s) [rs77738378] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

• 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
ureteric bud development
response to hypoxia
in utero embryonic development
mesoderm formation
somitogenesis
liver development
heart looping
osteoblast development
immune system development
transcription, DNA-templated
regulation of transcription from RNA polymerase II promoter
transport
activation of cysteine-type endopeptidase activity involved in apoptotic process
immune response
cell cycle arrest
transforming growth factor beta receptor signaling pathway
SMAD protein complex assembly
endoderm development
embryonic pattern specification
positive regulation of gene expression
positive regulation of alkaline phosphatase activity
positive regulation of epithelial to mesenchymal transition
regulation of striated muscle tissue development
regulation of transforming growth factor beta receptor signaling pathway
evasion or tolerance of host defenses by virus
signal transduction involved in regulation of gene expression
negative regulation of cell growth
positive regulation of cell migration
positive regulation of bone mineralization
negative regulation of transforming growth factor beta receptor signaling pathway
thyroid gland development
primary miRNA processing
positive regulation of chondrocyte differentiation
positive regulation of interleukin-1 beta production
regulation of transforming growth factor beta2 production
positive regulation of transforming growth factor beta3 production
activin receptor signaling pathway
negative regulation of osteoblast proliferation
nodal signaling pathway
wound healing
T cell activation
positive regulation of transcription factor import into nucleus
negative regulation of apoptotic process
cell-cell junction organization
negative regulation of fat cell differentiation
negative regulation of osteoblast differentiation
positive regulation of transcription, DNA-templated
negative regulation of mitotic cell cycle
positive regulation of transcription from RNA polymerase II promoter
paraxial mesoderm morphogenesis
developmental growth
embryonic foregut morphogenesis
embryonic cranial skeleton morphogenesis
regulation of epithelial cell proliferation
negative regulation of inflammatory response
regulation of immune response
positive regulation of positive chemotaxis
regulation of binding
positive regulation of stress fiber assembly
positive regulation of focal adhesion assembly
pericardium development
transdifferentiation
SMAD protein signal transduction
negative regulation of wound healing
lens fiber cell differentiation
extrinsic apoptotic signaling pathway
activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway
positive regulation of extracellular matrix assembly

Function(s)

RNA polymerase II core promoter proximal region sequence-specific DNA binding
transcription factor activity, RNA polymerase II core promoter sequence-specific
core promoter proximal region sequence-specific DNA binding
transcription factor activity, protein binding
RNA polymerase II activating transcription factor binding
transcription factor activity, sequence-specific DNA binding
transforming growth factor beta receptor binding
protein binding
collagen binding
transcription factor binding
zinc ion binding
protein kinase binding
phosphatase binding
transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity
chromatin DNA binding
ubiquitin protein ligase binding
enhancer binding
identical protein binding
protein homodimerization activity
ubiquitin binding
bHLH transcription factor binding
sequence-specific DNA binding
transcription regulatory region DNA binding
protein heterodimerization activity
co-SMAD binding
R-SMAD binding