1. Gene
  2. DNM2 - dynamin 2 Gene

DNM2 - dynamin 2 Gene

中文名称:动力 2

种属: Homo sapiens

同用名: DYN2; CMT2M; DYNII; LCCS5; CMTDI1; CMTDIB; DI-CMTB

基因 ID: 1785 | 基因类型: protein coding

关于 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.

功能概要

动力蛋白代表 GTP 结合蛋白的亚家族之一。这些蛋白质在分子的 N 末端部分具有相当大的序列相似性,其中包含 GTPase 结构域。动力蛋白与微管相关。它们涉及细胞过程,例如内吞作用和细胞运动,以及伴随某些活动 (例如破骨细胞的骨吸收) 的膜改变。动力蛋白结合许多结合肌动蛋白和其他细胞骨架蛋白的蛋白质。动力蛋白也可以自组装,这是一个刺激 GTPase 活性的过程。已经描述了编码不同蛋白质的五个可变剪接转录物。可能存在其他可变剪接的转录本,但尚未确定其全长性质。[RefSeq 提供,2010 年 6 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables GTPase activity IDA
IDA: 通过直接分析推断
34744632 GOA
enables SH3 domain binding IDA
IDA: 通过直接分析推断
18388313 GOA
enables phosphatidylinositol-4,5-bisphosphate binding IDA
IDA: 通过直接分析推断
34744632 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11583995 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in actin filament bundle organization IMP
IMP: 通过突变表型推断
19605363 GOA
involved in autophagy IDA
IDA: 通过直接分析推断
32315611 GOA
involved in autophagy IMP
IMP: 通过突变表型推断
29437695 GOA
involved in endocytosis IDA
IDA: 通过直接分析推断
33713620 GOA
involved in membrane tubulation IDA
IDA: 通过直接分析推断
24135484 GOA
involved in negative regulation of membrane tubulation IDA
IDA: 通过直接分析推断
18388313 GOA
involved in protein polymerization IDA
IDA: 通过直接分析推断
34744632 GOA
involved in receptor internalization IMP
IMP: 通过突变表型推断
14985334 GOA
involved in receptor-mediated endocytosis IDA
IDA: 通过直接分析推断
15731758 GOA
involved in transferrin transport IMP
IMP: 通过突变表型推断
14985334 GOA
involved in vesicle scission IDA
IDA: 通过直接分析推断
32315611 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in centriole IDA
IDA: 通过直接分析推断
15048127 GOA
located in centrosome IDA
IDA: 通过直接分析推断
16227997 GOA
located in clathrin-coated vesicle IDA
IDA: 通过直接分析推断
15731758 GOA
located in cytosol IDA
IDA: 通过直接分析推断
18388313 GOA
located in endosome IDA
IDA: 通过直接分析推断
15731758 GOA
located in microtubule IDA
IDA: 通过直接分析推断
15731758 GOA
located in postsynaptic membrane IDA
IDA: 通过直接分析推断
11583995 GOA
located in recycling endosome IDA
IDA: 通过直接分析推断
32315611 GOA
located in uropod IDA
IDA: 通过直接分析推断
18480402 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

DNM2 蛋白结构

Dynamin_N

Dynamin_N: Dynamin family (34 - 207)

Dynamin_M

Dynamin_M: Dynamin central region (216 - 505)

PH

PH: PH domain (520 - 618)

GED

GED: Dynamin GTPase effector domain (649 - 738)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 870 a.a.
蛋白主名 其他名称

dynamin-2

dynamin II

DNM2 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 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
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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