Hs04015045_cn

• Gene Symbol: DNM2
• Assay Reference Genome Location: Chr.19:10817481 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 16

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
	AK023207.1
	AK094984.1
	AK097875.1			BAC05190.1
	AK097989.1
	AK124881.1			BAC85978.1
	AK126192.1			BAC86481.1
	AK127033.1			BAC86797.1
	AK289831.1
	AK295929.1
	AK312260.1
	BC039596.1			AAH39596.1
	BC054501.1			AAH54501.1
	L36983.1			AAA88025.1

Target Gene Details

• Entrez Gene ID: 406976
• Gene Name: microRNA 199a-1
• Gene Aliases: MIR-199-s, MIRN199A1, mir-199a-1
• Location: Chr.19:10817426-10817496 on Build GRCh38
• Assay Gene Location: Overlaps - Exon 1

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
MIR199A1	NR_029586.1

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	MIR638 DNM2 MIR4748 TMED1 MIR6793 QTRT1 SLC44A2 C19orf38 MIR199A1 ILF3 CARM1 ILF3-AS1
nsv833748	Chr.19:10757002 - 10925368 on Build GRCh38	Loss	DNM2 MIR4748 TMED1 YIPF2 MIR6793 C19orf38 MIR199A1 CARM1
nsv2416	Chr.19:10814223 - 10848907 on Build GRCh38	Insertion	DNM2 TMED1 MIR6793 C19orf38 MIR199A1
nsv833746	Chr.19:10678751 - 10842756 on Build GRCh38	Loss	MIR638 DNM2 MIR4748 TMED1 MIR6793 QTRT1 C19orf38 MIR199A1 ILF3

More Information

Additional Information:

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

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