Hs06496830_cn

• Gene Symbol: SMAD2
• Assay Reference Genome Location: Chr.18:47844058 on build GRCh38
• Cytoband: 18q21.1

Target Gene Details

• Entrez Gene ID: 4087
• Gene Name: SMAD family member 2
• Gene Aliases: JV18, JV18-1, MADH2, MADR2, hMAD-2, hSMAD2
• Location: Chr.18:47833095-47931193 on Build GRCh38
• Assay Gene Location: Within Intron 17

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SMAD2	NM_001003652.3			NP_001003652.1
	NM_001135937.2			NP_001129409.1
	NM_005901.5			NP_005892.1
	XM_005258259.3			XP_005258316.1
	XM_006722451.3			XP_006722514.1
	XM_011525984.2			XP_011524286.1
	XM_011525985.2			XP_011524287.1
	XM_017025745.1			XP_016881234.1
	XM_017025746.1			XP_016881235.1
	XM_017025747.1			XP_016881236.1
	XM_017025748.1			XP_016881237.1
	XM_017025750.1			XP_016881239.1
	AF027964.1			AAC51918.1
	AK312963.1
	BC014840.1			AAH14840.1
	BC025699.1			AAH25699.1
	BT007422.1			AAP36090.1
	U59911.1			AAC50789.1
	U65019.1			AAB17054.1
	U68018.1			AAB17087.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
dgv3347n100	Chr.18:47833641 - 47881034 on Build GRCh38	Loss	SMAD2
dgv3349n100	Chr.18:47842216 - 47871252 on Build GRCh38	Loss	SMAD2
nsv1057722	Chr.18:47817594 - 47874989 on Build GRCh38	Gain	SMAD2

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
ureteric bud development
in utero embryonic development
endoderm formation
mesoderm formation
transcription from RNA polymerase II promoter
transforming growth factor beta receptor signaling pathway
common-partner SMAD protein phosphorylation
SMAD protein complex assembly
zygotic specification of dorsal/ventral axis
gastrulation
negative regulation of cell proliferation
response to glucose
post-embryonic development
anterior/posterior pattern specification
positive regulation of epithelial to mesenchymal transition
regulation of transforming growth factor beta receptor signaling pathway
signal transduction involved in regulation of gene expression
insulin secretion
lung development
negative regulation of transforming growth factor beta receptor signaling pathway
positive regulation of BMP signaling pathway
pancreas development
primary miRNA processing
activin receptor signaling pathway
somatic stem cell population maintenance
organ growth
intracellular signal transduction
nodal signaling pathway
cell fate commitment
negative regulation of transcription, DNA-templated
positive regulation of transcription, DNA-templated
positive regulation of transcription from RNA polymerase II promoter
paraxial mesoderm morphogenesis
embryonic foregut morphogenesis
embryonic cranial skeleton morphogenesis
regulation of binding
palate development
pericardium development
SMAD protein signal transduction
response to cholesterol
positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry

Function(s)

RNA polymerase II core promoter proximal region sequence-specific DNA binding
transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
DNA binding
chromatin binding
double-stranded DNA binding
transcription factor activity, sequence-specific DNA binding
transforming growth factor beta receptor binding
protein binding
transcription factor binding
phosphatase binding
transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity
ubiquitin protein ligase binding
activating transcription factor binding
type I transforming growth factor beta receptor binding
enhancer binding
protein homodimerization activity
SMAD binding
metal ion binding
protein heterodimerization activity
co-SMAD binding
I-SMAD binding
R-SMAD binding