Hs04016598_cn

• Gene Symbol: DNM2
• Assay Reference Genome Location: Chr.19:10744685 on build GRCh38
• Cytoband: 19p13.2

Target Gene Details

• Entrez Gene ID: 1785
• Gene Name: dynamin 2
• Gene Aliases: CMT2M, CMTDI1, CMTDIB, DI-CMTB, DYN2, DYNII, LCCS5
• Location: Chr.19:10718053-10831910 on Build GRCh38
• Assay Gene Location: Within Intron 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
DNM2	NM_001005360.2			NP_001005360.1
	NM_001005361.2			NP_001005361.1
	NM_001005362.2			NP_001005362.1
	NM_001190716.1			NP_001177645.1
	NM_004945.3			NP_004936.2
	AB209213.1			BAD92450.1
	AK289831.1
	AK312260.1
	BC039596.1			AAH39596.1
	BC054501.1			AAH54501.1
	BM148999.1
	DB069057.1
	L36983.1			AAA88025.1

Target Copy Number Variation Details

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

Target Variation	Location	CNV Subtype	Genes
nsv1160584	Chr.19:10618877 - 10892186 on Build GRCh38	Deletion	CARM1 DNM2 MIR638 SLC44A2 C19orf38 QTRT1 MIR199A1 ILF3 MIR6793 MIR4748 TMED1 ILF3-AS1
nsv833746	Chr.19:10678751 - 10842756 on Build GRCh38	Loss	DNM2 MIR638 C19orf38 QTRT1 MIR199A1 ILF3 MIR6793 MIR4748 TMED1
nsv1160585	Chr.19:10674243 - 10771056 on Build GRCh38	Deletion	DNM2 MIR638 QTRT1 ILF3

More Information

Additional Information:

For this assay, SNP(s) [rs77025014] are located under a primer or probe sequence. To help evaluate the possible impact of a given SNP on your experiment, please refer to the 1000 Genomes and NCBI dbSNP databases. A higher minor allele frequency in your study population represents a higher risk to assay performance.

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

Panther Classification:

Molecular Function -

membrane traffic protein

Gene Ontology Categories:

Process(es)

G2/M transition of mitotic cell cycle
G-protein coupled receptor internalization
ventricular septum development
regulation of transcription, DNA-templated
Golgi to plasma membrane transport
endocytosis
receptor-mediated endocytosis
phagocytosis
signal transduction
spermatogenesis
response to light stimulus
positive regulation of lamellipodium assembly
antigen processing and presentation of exogenous peptide antigen via MHC class II
negative regulation of transforming growth factor beta receptor signaling pathway
regulation of axon extension
receptor internalization
transferrin transport
regulation of Rac protein signal transduction
aorta development
response to cocaine
positive regulation of apoptotic process
macropinocytosis
positive regulation of nitric oxide biosynthetic process
positive regulation of transcription, DNA-templated
synaptic vesicle transport
neuron projection morphogenesis
positive regulation of phagocytosis
regulation of nitric-oxide synthase activity
cilium morphogenesis
coronary vasculature development
cellular response to carbon monoxide
cellular response to X-ray
cellular response to nitric oxide
positive regulation of substrate adhesion-dependent cell spreading
cellular response to dopamine
regulation of Golgi organization
positive regulation of sodium:potassium-exchanging ATPase activity
negative regulation of membrane tubulation

Function(s)

GTPase activity
protein binding
GTP binding
microtubule binding
SH3 domain binding
enzyme binding
protein kinase binding
D2 dopamine receptor binding
protein complex binding
phosphatidylinositol 3-kinase regulatory subunit binding
WW domain binding
nitric-oxide synthase binding