Hs07028437_cn

• Gene Symbol: SMAD9
• Assay Reference Genome Location: Chr.13:36845542 on build GRCh38
• Cytoband: 13q13.3

Target Gene Details

• Entrez Gene ID: 4093
• Gene Name: SMAD family member 9
• Gene Aliases: MADH6, MADH9, PPH2, SMAD8, SMAD8/9, SMAD8A, SMAD8B
• Location: Chr.13:36844831-36920721 on Build GRCh38
• Assay Gene Location: Within Exon 9

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
SMAD9	NM_001127217.2	7	4881	NP_001120689.1
	NM_005905.5	6	4770	NP_005896.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv522336	Chr.13:36731504 - 37010701 on Build GRCh38	Gain	EXOSC8 SUPT20H ALG5 SMAD9 RFXAP

More Information

• Set Membership: Intragenic, Exonic, DGV Variation

Panther Classification:

Molecular Function -

DNA-binding transcription factor, gene-specific transcriptional regulator

Gene Ontology Categories:

Process(es)

ureteric bud development
transcription, DNA-templated
protein phosphorylation
transforming growth factor beta receptor signaling pathway
BMP signaling pathway
midbrain development
hindbrain development
cartilage development
bone development
SMAD protein signal transduction
cellular response to organic cyclic compound
cellular response to BMP stimulus
positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus

Function(s)

DNA binding
transcription factor activity, sequence-specific DNA binding
protein binding
transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity
metal ion binding