Hs05134124_cn

• Gene Symbol: PTEN
• Assay Reference Genome Location: Chr.10:87896193 on build GRCh38
• Cytoband: 10q23.31

Target Gene Details

• Entrez Gene ID: 5728
• Gene Name: phosphatase and tensin homolog
• Gene Aliases: 10q23del, BZS, CWS1, DEC, GLM2, MHAM, MMAC1, PTEN1, TEP1
• Location: Chr.10:87863438-87971930 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
PTEN	NM_000314.6			NP_000305.3
	NM_001304717.2			NP_001291646.2
	NM_001304718.1			NP_001291647.1
	AK313581.1
	BC005821.2			AAH05821.1
	CR450306.1			CAG29302.1
	JF268690.1
	KJ534922.1
	U92436.1			AAC51182.1
	U93051.1			AAC51183.1
	U96180.1			AAB66902.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1050406	Chr.10:87872381 - 87898149 on Build GRCh38	Gain	PTEN

More Information

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

Panther Classification:

Molecular Function -

protein phosphatase

Gene Ontology Categories:

Process(es)

regulation of cyclin-dependent protein serine/threonine kinase activity
angiogenesis
negative regulation of protein phosphorylation
regulation of B cell apoptotic process
protein dephosphorylation
phosphatidylinositol biosynthetic process
apoptotic process
neuron-neuron synaptic transmission
synapse assembly
central nervous system development
heart development
aging
response to nutrient
learning or memory
memory
locomotory behavior
cell proliferation
positive regulation of cell proliferation
negative regulation of cell proliferation
response to glucose
response to zinc ion
regulation of neuron projection development
negative regulation of phosphatidylinositol 3-kinase signaling
cell migration
dentate gyrus development
central nervous system neuron axonogenesis
negative regulation of cell migration
adult behavior
negative regulation of myelination
regulation of protein stability
negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle
regulation of synaptic transmission, GABAergic
central nervous system myelin maintenance
response to estradiol
regulation of cellular component size
regulation of myeloid cell apoptotic process
response to ATP
multicellular organismal response to stress
social behavior
peptidyl-tyrosine dephosphorylation
response to drug
maternal behavior
negative regulation of apoptotic process
protein kinase B signaling
endothelial cell migration
inositol phosphate metabolic process
response to ethanol
locomotor rhythm
negative regulation of cell size
negative regulation of organ growth
response to arsenic-containing substance
inositol phosphate dephosphorylation
phosphatidylinositol dephosphorylation
platelet-derived growth factor receptor signaling pathway
phosphatidylinositol-mediated signaling
regulation of axon regeneration
cardiac muscle tissue development
forebrain morphogenesis
brain morphogenesis
negative regulation of epithelial cell proliferation
negative regulation of phagocytosis
negative regulation of axonogenesis
protein stabilization
T cell receptor signaling pathway
positive regulation of sequence-specific DNA binding transcription factor activity
negative regulation of focal adhesion assembly
negative regulation of protein kinase B signaling
rhythmic synaptic transmission
canonical Wnt signaling pathway
synapse maturation
prepulse inhibition
male mating behavior
long-term synaptic potentiation
long term synaptic depression
prostate gland growth
dendritic spine morphogenesis
negative regulation of dendritic spine morphogenesis
negative regulation of ERK1 and ERK2 cascade
positive regulation of ERK1 and ERK2 cascade
cellular response to hypoxia
negative regulation of ribosome biogenesis
negative regulation of cell aging
negative regulation of excitatory postsynaptic potential
presynaptic membrane assembly
postsynaptic density assembly
positive regulation of TRAIL-activated apoptotic signaling pathway
positive regulation of ubiquitin protein ligase activity
positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process
negative regulation of G1/S transition of mitotic cell cycle
positive regulation of excitatory postsynaptic potential
negative regulation of synaptic vesicle clustering

Function(s)

magnesium ion binding
phosphatidylinositol-3-phosphatase activity
phosphoprotein phosphatase activity
protein serine/threonine phosphatase activity
protein tyrosine phosphatase activity
platelet-derived growth factor receptor binding
protein binding
protein tyrosine/serine/threonine phosphatase activity
lipid binding
anaphase-promoting complex binding
phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity
enzyme binding
protein kinase binding
PDZ domain binding
identical protein binding
inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity
phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity