Hs06454053_cn

• Gene Symbol: SMAD7
• Assay Reference Genome Location: Chr.18:48923084 on build GRCh38
• Cytoband: 18q21.1

Target Gene Details

• Entrez Gene ID: 4092
• Gene Name: SMAD family member 7
• Gene Aliases: CRCS3, MADH7, MADH8
• Location: Chr.18:48919853-48950711 on Build GRCh38
• Assay Gene Location: Within Intron 4

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SMAD7	NM_001190821.1			NP_001177750.1
	NM_001190822.1			NP_001177751.1
	NM_001190823.1			NP_001177752.1
	NM_005904.3			NP_005895.1
	AF010193.1			AAB81246.1
	AF015261.1			AAB81354.1
	AK131394.1
	AK301535.1
	BC074818.2			AAH74818.2
	BC074819.2			AAH74819.2
	BP363832.1
	DA882147.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv833645	Chr.18:48922677 - 49035793 on Build GRCh38	Loss	LOC105372109 SMAD7
nsv833644	Chr.18:48769390 - 48943545 on Build GRCh38	Gain	CTIF SMAD7

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
transcription, DNA-templated
transforming growth factor beta receptor signaling pathway
regulation of epithelial to mesenchymal transition
negative regulation of epithelial to mesenchymal transition
negative regulation of peptidyl-threonine phosphorylation
negative regulation of transcription by competitive promoter binding
regulation of transforming growth factor beta receptor signaling pathway
positive regulation of cell-cell adhesion
negative regulation of cell migration
BMP signaling pathway
negative regulation of transforming growth factor beta receptor signaling pathway
negative regulation of BMP signaling pathway
negative regulation of protein ubiquitination
positive regulation of protein ubiquitination
positive regulation of proteasomal ubiquitin-dependent protein catabolic process
regulation of activin receptor signaling pathway
negative regulation of peptidyl-serine phosphorylation
adherens junction assembly
response to laminar fluid shear stress
cellular protein complex localization
intracellular signal transduction
negative regulation of sequence-specific DNA binding transcription factor activity
positive regulation of transcription from RNA polymerase II promoter
artery morphogenesis
protein stabilization
negative regulation of ubiquitin-protein transferase activity
ventricular cardiac muscle tissue morphogenesis
regulation of cardiac muscle contraction
regulation of ventricular cardiac muscle cell membrane depolarization
pathway-restricted SMAD protein phosphorylation
negative regulation of pathway-restricted SMAD protein phosphorylation
ventricular septum morphogenesis
cellular response to transforming growth factor beta stimulus

Function(s)

transcription factor activity, sequence-specific DNA binding
protein binding
collagen binding
beta-catenin binding
transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity
ubiquitin protein ligase binding
type I transforming growth factor beta receptor binding
transcription regulatory region DNA binding
metal ion binding
activin binding
I-SMAD binding