Hs03439747_cn

• Gene Symbol: STAMBP
• Assay Reference Genome Location: Chr.2:73831966 on build GRCh38
• Cytoband: 2p13.1

Target Gene Details

• Entrez Gene ID: 10617
• Gene Name: STAM binding protein
• Gene Aliases: AMSH, MICCAP
• Location: Chr.2:73828911-73873656 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
STAMBP	NM_006463.4			NP_006454.1
	NM_201647.2			NP_964010.1
	NM_213622.2			NP_998787.1
	XM_005264088.3			XP_005264145.1
	XM_011532483.2			XP_011530785.1
	XM_011532484.2			XP_011530786.1
	XM_011532485.2			XP_011530787.1
	XM_017003175.1			XP_016858664.1
	XM_017003176.1			XP_016858665.1
	XM_017003177.1			XP_016858666.1
	XM_017003178.1			XP_016858667.1
	XM_017003179.1			XP_016858668.1
	XM_017003180.1			XP_016858669.1
	XM_017003181.1			XP_016858670.1
	AF052135.1
	BC007682.1			AAH07682.1
	BC065574.1			AAH65574.1
	BC101467.1			AAI01468.1
	BC101469.1			AAI01470.1
	BM478027.1
	BQ929694.1
	CX758449.1
	DB477012.1
	DN919763.1
	DR158757.1
	EU927390.1
	U73522.1			AAD05037.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv834260	Chr.2:73678979 - 73849393 on Build GRCh38	Gain	ALMS1P1 DUSP11 C2orf78 TPRKB STAMBP NAT8B
esv2759060	Chr.2:73489905 - 73851465 on Build GRCh38	Gain	ALMS1P1 DUSP11 C2orf78 TPRKB STAMBP NAT8 NAT8B ALMS1

More Information

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

Panther Classification:

Molecular Function -

metalloprotease

Gene Ontology Categories:

Process(es)

mitotic cytokinesis
JAK-STAT cascade
positive regulation of cell proliferation
negative regulation of phosphatidylinositol 3-kinase signaling
protein deubiquitination
negative regulation of neuron apoptotic process
negative regulation of Ras protein signal transduction

Function(s)

thiol-dependent ubiquitin-specific protease activity
protein binding
metallopeptidase activity
protein domain specific binding
metal ion binding