DNM2 - dynamin 2 Gene

Also Known as DYN2; CMT2M; DYNII; LCCS5; CMTDI1; CMTDIB; DI-CMTB

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 1785

About DNM2

Cytogenetic location: 19p13.2 Genomic coordinates (GRCh38): 19:10,718,079-10,831,903 (from NCBI)

This gene has 26 transcripts (splice variants), 315 orthologues, 6 paralogues and is associated with 75 phenotypes. Ubiquitous expression in colon (RPKM 49.5), stomach (RPKM 41.1) and 25 other tissues.

Summary

Dynamins represent one of the subfamilies of GTP-binding proteins. These proteins share considerable sequence similarity over the N-terminal portion of the molecule, which contains the GTPase domain. Dynamins are associated with microtubules. They have been implicated in cell processes such as endocytosis and cell motility, and in alterations of the membrane that accompany certain activities such as bone resorption by osteoclasts. Dynamins bind many proteins that bind actin and Other cytoskeletal proteins. Dynamins can also self-assemble, a process that stimulates GTPase activity. Five alternatively spliced transcripts encoding different proteins have been described. Additional alternatively spliced transcripts may exist, but their full-length nature has not been determined. [provided by RefSeq, Jun 2010]

DNM2 Products (5)

mRNA	Protein	Name
NM_001005360.3	NP_001005360.1	dynamin-2 isoform 1
NM_001005361.3	NP_001005361.1	dynamin-2 isoform 2
NM_001005362.3	NP_001005362.1	dynamin-2 isoform 4
NM_001190716.2	NP_001177645.1	dynamin-2 isoform 5
NM_004945.4	NP_004936.2	dynamin-2 isoform 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	参考文献	由来
enables GTPase activity	IDA IDA: Inferred from direct assay	34744632	GOA
enables SH3 domain binding	IDA IDA: Inferred from direct assay	18388313	GOA
enables phosphatidylinositol-4,5-bisphosphate binding	IDA IDA: Inferred from direct assay	34744632	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11583995	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in actin filament bundle organization	IMP IMP: Inferred from mutant phenotype	19605363	GOA
involved in autophagy	IDA IDA: Inferred from direct assay	32315611	GOA
involved in autophagy	IMP IMP: Inferred from mutant phenotype	29437695	GOA
involved in endocytosis	IDA IDA: Inferred from direct assay	33713620	GOA
involved in membrane tubulation	IDA IDA: Inferred from direct assay	24135484	GOA
involved in negative regulation of membrane tubulation	IDA IDA: Inferred from direct assay	18388313	GOA
involved in protein polymerization	IDA IDA: Inferred from direct assay	34744632	GOA
involved in receptor internalization	IMP IMP: Inferred from mutant phenotype	14985334	GOA
involved in receptor-mediated endocytosis	IDA IDA: Inferred from direct assay	15731758	GOA
involved in transferrin transport	IMP IMP: Inferred from mutant phenotype	14985334	GOA
involved in vesicle scission	IDA IDA: Inferred from direct assay	32315611	GOA

Cellular Component GO Annotation	Evidence	参考文献	由来
located in centriole	IDA IDA: Inferred from direct assay	15048127	GOA
located in centrosome	IDA IDA: Inferred from direct assay	16227997	GOA
located in clathrin-coated vesicle	IDA IDA: Inferred from direct assay	15731758	GOA
located in cytosol	IDA IDA: Inferred from direct assay	18388313	GOA
located in endosome	IDA IDA: Inferred from direct assay	15731758	GOA
located in microtubule	IDA IDA: Inferred from direct assay	15731758	GOA
located in postsynaptic membrane	IDA IDA: Inferred from direct assay	11583995	GOA
located in recycling endosome	IDA IDA: Inferred from direct assay	32315611	GOA
located in uropod	IDA IDA: Inferred from direct assay	18480402	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DNM2 Protein Structure

Dynamin_N

Dynamin_M

GED

0
200
400
600
800
870 a.a.

Protein Preferred Names	Protein Names
dynamin-2	dynamin II

DNM2 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	DNM2	P50570	AHI1	Homo sapiens	Q8N157	Anti Bait CoIP	22623184
Intra	DNM2	P50570	FLAD1	Homo sapiens	Q8NFF5-2	Validated Y2H	32296183
Intra	DNM2	P50570	PRKAA2	Homo sapiens	P54646	Validated Y2H	32296183
Intra	DNM2	P50570	SNX33	Homo sapiens	Q8WV41	Pull Down	18353773
Intra	DNM2	P50570	SH3KBP1	Homo sapiens	Q96B97	Pull Down	20711168
Intra	DNM2	P50570	CTTN	Homo sapiens	Q14247	DLS	16636290
Intra	DNM2	P50570	TRAF4	Homo sapiens	Q9BUZ4	Validated Y2H	32296183
Intra	DNM2	P50570	GRB2	Homo sapiens	P62993	SPR	16696976
Intra	DNM2	P50570	GRB2	Homo sapiens	P62993	SPR	15834155
Intra	DNM2	P50570	GRB2	Homo sapiens	P62993	Validated Y2H	27107012
Intra	DNM2	P50570	GRB2	Homo sapiens	P62993	Y2H	21988832
Intra	DNM2	P50570	MYO1E	Homo sapiens	Q12965	Anti Bait CoIP	17257598
Intra	DNM2	P50570	MYO1E	Homo sapiens	Q12965	Pull Down	17257598
Intra	DNM2	P50570	ITSN1	Homo sapiens	Q15811	Y2H	21900206
Intra	DNM2	P50570	ITSN1	Homo sapiens	Q15811	SPR	16696976
Intra	DNM2	P50570	ITSN1	Homo sapiens	Q15811	SPR	15834155
Intra	DNM2	P50570	DNM1	Homo sapiens	Q05193	Anti Tag CoIP	33961781
Intra	DNM2	P50570	DNM1	Homo sapiens	Q05193	Anti Tag CoIP	35271311
Intra	DNM2	P50570	NME2	Homo sapiens	P22392	Anti Bait CoIP	24970086
Intra	DNM2	P50570	NME2	Homo sapiens	P22392	Pull Down	24970086
Intra	DNM2	P50570	UBASH3A	Homo sapiens	P57075-2	Validated Y2H	32296183
Intra	DNM2	P50570	PACSIN2	Homo sapiens	Q9UNF0	Pull Down	16551695
Intra	DNM2	P50570	PACSIN2	Homo sapiens	Q9UNF0	Anti Bait CoIP	16551695
Intra	DNM2	P50570	SNX9	Homo sapiens	Q9Y5X1	Pull Down	15703209
Intra	DNM2	P50570	SNX9	Homo sapiens	Q9Y5X1	Anti Tag CoIP	35271311
Intra	DNM2	P50570	SNX9	Homo sapiens	Q9Y5X1	Validated Y2H	27107012
Intra	DNM2	P50570	SNX9	Homo sapiens	Q9Y5X1	Anti Tag CoIP	18388313
Intra	DNM2	P50570	SNX9	Homo sapiens	Q9Y5X1	Anti Bait CoIP	15703209
Intra	DNM2	P50570	SH3GL2	Homo sapiens	Q99962	SPR	15834155
Intra	DNM2	P50570	SH3GL2	Homo sapiens	Q99962	Pull Down	17257598
Intra	DNM2	P50570	SEC23A	Homo sapiens	Q15436	Validated Y2H	32296183
Cross	DNM2	P50570	nef	Human immunodeficiency virus	Q9QPN3	Anti Tag CoIP	17412836

Cross: Cross-species interaction Intra: Intraspecies interaction

DNM2 抗体

製品番号	製品名	アプリケーション	反応性
HY-P82719	Dynamin 2 Antibody (YA2464)	WB, IHC-P, ICC/IF, FC	Human, Mouse, Rat
HY-P84366	Dynamin 2 Antibody (YA4063)	WB, FC, ELISA	Human
HY-P84366A	Dynamin 2 Antibody (YA4063)(PBS only)	WB, FC, ELISA	Human
HY-P85126	Dynamin 2 Antibody (YA4818)	WB, IHC-P, ICC/IF, ELISA	Human

関連疾患

Diseases	Alias
Myopathy, Centronuclear, 1	Autosomal Dominant Centronuclear Myopathy CNM1 Centronuclear Myopathy 1 Ad-Cnm Myopathy, Centronuclear, Autosomal Dominant Myotubular Myopathy, Autosomal Dominant Centronuclear Myopathy, Autosomal, Modifier Of Autosomal Dominant Myotubular Myopathy Dnm2-Related Centronuclear Myopathy Centronuclear Myopathy Autosomal Dominant Myopathies, Structural, Congenital Myopathy, Centronuclear, Type 1
Charcot-Marie-Tooth Disease, Dominant Intermediate B	CMTDIB Charcot-Marie-Tooth Disease Dominant Intermediate B Di-Cmtb Cmtdi1 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2m Charcot-Marie-Tooth Neuropathy Dominant Intermediate B CMT2M Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B Charcot-Marie-Tooth Disease, Axonal Type 2m Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B Charcot-Marie-Tooth Disease 2m Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2m Charcot-Marie-Tooth Disease Axonal Type 2m Charcot-Marie-Tooth Neuropathy Axonal Type 2m Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, B Charcot-Marie-Tooth Disease, Axonal, Type 2m Charcot-Marie-Tooth Disease, Dominant Intermediate, Type B
Lethal Congenital Contracture Syndrome 5	LCCS5 Fetal Akinesia-Cerebral And Retinal Hemorrhage Syndrome Myopathy, Centronuclear, Lethal, Autosomal Recessive Lethal Congenital Contracture Syndrome Type 5 Autosomal Recessive Lethal Centronuclear Myopathy Contracture Syndrome, Lethal, Congenital, Type 5
Centronuclear Myopathy	Myopathy, Centronuclear Myotubular Myopathy Cnm Myopathy, Myotubular Congenital Structural Myopathy
Myopathy, Centronuclear, X-Linked	X-Linked Myotubular Myopathy Xlmtm X-Linked Centronuclear Myopathy Xlcnm CNMX Mtm1 Myotubular Myopathy, X-Linked Mtmx Myotubular Myopathy 1 Centronuclear Myopathy X-Linked Myotubular Myopathy Mtm Cnm Xmtm Myotubular Myopathy Type 1
Myopathy	Muscular Diseases Myopathies
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies
Charcot-Marie-Tooth Disease Dominant Intermediate A	Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type A Cmtdia Charcot-Marie-Tooth Neuropathy Dominant Intermediate A Di-Cmta Charcot-Marie-Tooth Disease, Dominant Intermediate, Type A
Neuropathy	Peripheral Neuropathy Peripheral Neuropathies
Batten-Turner Congenital Myopathy	Congenital Myopathy Batten Turner Congenital Myopathy Myopathy Congenital Myopathy, Congenital Myotonia Congenita Benign Congenital Myopathy
Lethal Congenital Contracture Syndrome	Lccs Lethal Congenital Contracture Syndrome 1
Neuropathy, Hereditary Sensory, Type Id	HSN1D Hereditary Sensory Neuropathy Type 1d Neuropathy, Hereditary Sensory, Type 1d Neuropathy, Hereditary Sensory, 1d Hereditary Sensory Neuropathy Type Id Neuropathy, Sensory, Hereditary, Type Id
Charcot-Marie-Tooth Disease Intermediate Type	Intermediate Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease Dominant Intermediate Charcot-Marie-Tooth Disease Recessive Intermediate Intermediate Cmt Intermediate Hereditary Motor And Sensory Neuropathy Charcot-Marie-Tooth Disease, Intermediate Type Charcot-Marie-Tooth, Intermediate
Tooth Disease	Tooth Diseases Teeth Disease Tooth Disorders
Charcot-Marie-Tooth Disease, Axonal, Type 2e	Charcot-Marie-Tooth Disease Type 2 CMT2E CMT2S CMT2Y Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease Axonal Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2s Charcot-Marie-Tooth Disease, Type 2e Hereditary Motor And Sensory Neuropathy Type 2 Charcot-Marie-Tooth Neuropathy, Type 2s Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2y Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y Charcot-Marie-Tooth Neuropathy, Type 2y Charcot-Marie-Tooth Disease, Type 2y Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Neuropathy Type 2e Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation Cmt2 Due To Vcp Mutation Charcot-Marie-Tooth Disease Type 2s Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Cmt2 Charcot-Marie-Tooth Neuropathy, Type 2e Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type Hereditary Motor And Sensory Neuropathy Okinawa Type Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y Charcot-Marie-Tooth Neuropathy Type 2y Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s Charcot-Marie-Tooth Neuropathy Type 2s Charcot-Marie-Tooth Type 2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease 2e Charcot-Marie-Tooth Disease Axonal Type 2e Charcot-Marie-Tooth Disease Neuronal Type 2e Charcot-Marie-Tooth Disease 2s Charcot-Marie-Tooth Neuropathy Axonal Type 2s Charcot-Marie-Tooth Disease 2y Charcot-Marie-Tooth Disease, Type 2 Hereditary Motor And Sensory-Neuropathy Type Ii
Peliosis Hepatis	Hepatic Peliosis Telangiectasis Of Liver Angiomatosis Of Liver Ph - [Peliosis Hepatis] Hepatic Angiomatosis
Charcot-Marie-Tooth Disease, Dominant Intermediate C	CMTDIC Charcot-Marie-Tooth Disease Dominant Intermediate C Di-Cmtc Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type C Charcot-Marie-Tooth Neuropathy, Dominant Intermediate C Charcot-Marie-Tooth Neuropathy Dominant Intermediate C Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, C Charcot-Marie-Tooth Disease, Dominant Intermediate, Type C
Ptosis	Blepharoptosis Drooping Eyelid Droopy Eyelid Ptosis Of Eyelid Paralysis Of Levator Palpebrae Superioris
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Charcot-Marie-Tooth Disease Type 4 Charcot-Marie-Tooth Disease Type 4e Hereditary Motor And Sensory Neuropathy Cmt4e CHN1 Hypomyelinating Neuropathy, Congenital, 1 Charcot-Marie-Tooth Neuropathy Type 4e Neuropathy, Congenital Hypomyelinating, 1 Ar-Cmt1 Autosomal Recessive Demyelinating Charcot-Marie-Tooth Cmt4 Neuropathy, Congenital Hypomyelinating Or Amyelinating, Autosomal Recessive Hypomyelination, Severe Congenital Charcot-Marie-Tooth Disease, Type 4e Charcot-Marie-Tooth Neuropathy, Type 4e Autosomal Recessive Congenital Hypomyelinating Or Amyelinating Neuropathy Autosomal Recessive Congenital Hypomyelinating Neuropathy Congenital Amyelinating Neuropathy Congenital Hypomyelinating Neuropathy Autosomal Recessive Neuropathy, Congenital Hypomyelinating Or Amyelinating Severe Congenital Hypomyelination Hereditary Sensory Motor Neuropathy Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive Neuropathy, Hypomyelinating, Congenital, Type 1 Neuropathy, Motor And Sensory, Hereditary Congenital Hypomyelinating Neuropathy Hereditary Motor And Sensory Neuropathies Hereditary Sensorimotor Neuropathy Hmsn - [Hereditary Motor And Sensory Neuropathy] Hsmn - [Hereditary Sensory And Motor Neuropathy] Hereditary Motor And Sensory Neuropathy, Types I-Iv
Charcot-Marie-Tooth Disease And Deafness	Charcot-Marie-Tooth Disease Type 1e CMT1E Charcot-Marie-Tooth Disease Type 1 Hereditary Motor And Sensory Neuropathy Type 1 Charcot-Marie-Tooth Disease, Demyelinating, Type 1e Charcot-Marie-Tooth Disease, Type I Charcot-Marie-Tooth Neuropathy And Deafness, Autosomal Dominant Charcot-Marie-Tooth Disease, Type 1e Charcot-Marie-Tooth Disease Demyelinating Type 1e Autosomal Dominant Demyelinating Charcot-Marie-Tooth Disease Cmt1 Charcot-Marie-Tooth Neuropathy Type 1 Autosomal Dominant Charcot-Marie-Tooth Neuropathy And Deafness Charcot-Marie-Tooth Disease-Deafness Charcot-Marie-Tooth Type 1 Hmsn1 Hereditary Motor And Sensory Neuropathy 1 Cmt 1e Charcot Marie Tooth Disease Type 1e Charcot-Marie-Tooth Disease-Deafness Syndrome Charcot-Marie-Tooth Disease-Hearing Loss Syndrome Charcot-Marie-Tooth Disease 1e Charcot-Marie-Tooth Disease And Deafness Autosomal Dominant Charcot-Marie-Tooth Neuropathy Type 1e Charcot-Marie-Tooth Disease, Type Ie Hereditary Motor And Sensory Neuropathy Type I
Charcot-Marie-Tooth Disease, Axonal, Type 2b	Charcot-Marie-Tooth Disease Type 2b CMT2B Hmsn Iib Hmsn2b Charcot-Marie-Tooth Disease, Type 2b Hereditary Motor And Sensory Neuropathy Iib Autosomal Dominant Charcot-Marie-Tooth Disease Type 2b Charcot-Marie-Tooth Neuropathy Type 2b Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2b Charcot-Marie-Tooth Neuropathy, Type 2b Hereditary Motor And Sensory Nueropathy Iib Cmt 2b Charcot Marie Tooth Disease Type 2b Charcot-Marie-Tooth Disease, Neuronal, Type 2b Hereditary Motor And Sensory Neuropathy 2 B Peripheral Sensory Neuropathy, Autosomal Dominant Charcot-Marie-Tooth Disease 2b Charcot-Marie-Tooth Disease Axonal Type 2b Charcot-Marie-Tooth Disease Neuronal Type 2b Peripheral Sensory Neuropathy Autosomal Dominant Psn
Charcot-Marie-Tooth Disease, Axonal, Type 2a1	CMT2A1 Charcot-Marie-Tooth Disease Type 2a1 Hereditary Motor And Sensory Neuropathy Iia1 Hmsn Iia1 Hmsn2a1 Charcot-Marie-Tooth Disease, Type 2a1 Charcot-Marie-Tooth Disease Neuronal Type 2a1 Charcot-Marie-Tooth Neuropathy Type 2a1 Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a1 Charcot-Marie-Tooth Disease, Neuronal, Type 2a1 Charcot-Marie-Tooth Neuropathy, Type 2a1 Autosomal Dominant Charcot-Marie-Tooth Disease Axonal Type 2a1 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a1 Charcot-Marie-Tooth Disease 2a1 Charcot-Marie-Tooth Disease Axonal Type 2a1
Hereditary Motor And Sensory Neuropathy, Type Iic	CMT2C Charcot-Marie-Tooth Disease Axonal Type 2c HMSN2C Hmsn Iic Autosomal Dominant Charcot-Marie-Tooth Disease Type 2c Charcot-Marie-Tooth Neuropathy Type 2c Hereditary Motor And Sensory Neuropathy Type Iic Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2c Charcot-Marie-Tooth Neuropathy, Type 2c Autosomal Cominant Axonal Charcot-Marie-Tooth Disease Type 2c Charcot-Marie-Tooth Disease 2c Charcot-Marie-Tooth Disease Axonal Autosomal Dominant 2c Charcot-Marie-Tooth Disease, Type 2c
Central Core Disease Of Muscle	Central Core Disease Central Core Myopathy CCD Cco Neuromuscular Disease, Congenital, With Uniform Type 1 Fiber Myopathy, Central Core Shy-Magee Syndrome Muscle Core Disease Muscular Central Core Disease Myopathy, Central Fibrillar Shy'S Disease Moderate Multiminicore Disease With Hand Involvement
Charcot-Marie-Tooth Disease, Type 4b2	Charcot-Marie-Tooth Disease Type 4b2 CMT4B2 Charcot-Marie-Tooth Disease, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b2 Charcot-Marie-Tooth Neuropathy, Type 4b2 Charcot-Marie-Tooth Neuropathy Type 4b2 Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b2 Cmt 4b2 Charcot Marie Tooth Disease Type 4b2 Charcot-Marie-Tooth Disease 4b2 Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b2 Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b2
Myopathy, Centronuclear, 2	Myopathy, Centronuclear, Autosomal Recessive Autosomal Recessive Centronuclear Myopathy CNM2 Centronuclear Myopathy 2 Ar-Cnm Myotubular Myopathy, Autosomal Recessive Autosomal Recessive Myotubular Myopathy Centronuclear Myopathy Autosomal Recessive Myopathy, Centronuclear, Type 2
Charcot-Marie-Tooth Disease, Type 4b1	Charcot-Marie-Tooth Disease Type 4b1 CMT4B1 Cmt4b Charcot-Marie-Tooth Neuropathy Type 4b1 Charcot-Marie-Tooth Disease Type 4b Charcot-Marie-Tooth Disease, Autosomal Recessive, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4b1 Charcot-Marie-Tooth Neuropathy, Type 4b1 Charcot-Marie-Tooth Disease, Type 4b Autosomal Recessive Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 4b1 Charcot-Marie-Tooth Disease 4b1 Charcot-Marie-Tooth Disease Autosomal Recessive With Focally Folded Myelin Sheaths 4b1 Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4b1
Charcot-Marie-Tooth Disease, Type 4c	Charcot-Marie-Tooth Disease Type 4c CMT4C Charcot-Marie-Tooth Neuropathy Type 4c Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4c Charcot-Marie-Tooth Neuropathy, Type 4c Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4c Charcot-Marie-Tooth Disease 4c Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4c
Congenital Fiber-Type Disproportion	Congenital Fiber Type Disproportion Cftdm Congenital Myopathy With Fiber Type Disproportion Cftd Congenital Fiber-Type Disproportion Myopathy Fiber-Type Disproportion Myopathy, Congenital Myopathy, Congenital With Fiber-Type Disproportion
Charcot-Marie-Tooth Disease, Axonal, Type 2b2	Charcot-Marie-Tooth Disease Type 2b2 CMT2B2 Arcmt2b Charcot-Marie-Tooth Disease, Type 2b2 Ar-Cmt2b2 Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2b2 Autosomal Recessive Axonal Cmt4c3 Charcot-Marie-Tooth Disease Neuronal Type 2b2 Charcot-Marie-Tooth Neuropathy Type 2b2 Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2b2 Charcot-Marie-Tooth Disease, Neuronal, Type 2b2 Charcot-Marie-Tooth Neuropathy, Type 2b2 Charcot-Marie-Tooth Disease 2b2 Charcot-Marie-Tooth Disease Axonal Autosomal Recessive B2 Charcot-Marie-Tooth Disease Axonal Type 2b2
Multiminicore Disease	Multiminicore Myopathy Mmd Minicore Disease Minicore Myopathy Multi-Core Congenital Myopathy Multi-Core Disease Multi-Minicore Disease Multicore Disease Multicore Myopathy Minicore Myopathy With External Ophthalmoplegia
Ocular Motility Disease	Ocular Motility Disorders Abnormality Of Eye Movement Disorder Of Eye Movements Eye Movement Disorder Eye Movement Disorders
Fragile X Syndrome	FXS Martin-Bell Syndrome Fraxa Syndrome Marker X Syndrome X-Linked Mental Retardation And Macroorchidism Fragile X Mental Retardation Syndrome Fra Syndrome Mental Retardation, X-Linked, Associated With Marxq28 X-Linked Intellectual Disability And Macroorchidism Frax Syndrome Symptomatic Form Of Fragile X Syndrome In Female Carriers Fragile-X Syndrome Fraxe Syndrome
Noonan Syndrome 3	NS3 Noonan Syndrome, Type 3
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
Congenital Myasthenic Syndrome	Congenital Myasthenia Congenital Myasthenic Syndromes Cms Myasthenic Syndromes, Congenital Myasthenic Syndromes Congenital Myasthenic Syndrome, Congenital Congenital Myasthenic Syndrome Ib Congenital And Developmental Myasthenia Developmental Myasthenia
Distal Arthrogryposis	Arthrogryposis Multiplex Congenita Arthrogryposis Congenital Multiple Arthrogryposis Congenital Arthromyodysplasia Fibrous Ankylosis Of Multiple Joints Guerin-Stern Syndrome Guérin-Stern Syndrome Myodystrophia Fetalis Deformans Otto Syndrome Rocher-Sheldon Syndrome Rossi Syndrome Amc Multiple Congenital Arthrogryposis Arthrogryposis Syndrome Arthrogryposis, Distal Distal Arthrogryposis Syndrome Freeman-Sheldon Syndrome Arthrogryposis, Distal, Type 2b Congenital Multiplex Arthrogryposis Amyoplasia Congenita Congenital Amyoplasia Amc - [Arthrogryposis Multiplex Congenita]
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (8)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-132583A	IONIS-DNM2-2.5Rx sodium		97.46%	Unkown
HY-RS03905	DNM2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-132583	IONIS-DNM2-2.5Rx		/	Unkown
HY-132583D	IONIS-DNM2-2.5Rx sodium scrambled negative control		/	Unkown
HY-132583E	FAM labled IONIS-DNM2-2.5Rx sodium		/	Unkown
HY-132583H	Cy3 labled IONIS-DNM2-2.5Rx sodium		/	Unkown
HY-RS22143	Dnm2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28664	Dnm2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Macaca mulatta	DNM2	VGNC	VGNC:71957
Bos taurus	DNM2	VGNC	VGNC:28143
Felis catus	DNM2	VGNC	VGNC:61560
Rattus norvegicus	DNM2	RGD	RGD:2513
Canis familiaris	DNM2	VGNC	VGNC:40033
Mus musculus	DNM2	MGD	MGI:109547
Others	DNM2	NCBI