1. Gene
  2. SH3TC2 - SH3 domain and tetratricopeptide repeats 2 Gene

SH3TC2 - SH3 domain and tetratricopeptide repeats 2 Gene

中文名称:SH3 结构域和四肽重复序列 2

种属: Homo sapiens

同用名: MNMN; CMT4C

基因 ID: 79628 | 基因类型: protein coding

关于 SH3TC2

Cytogenetic location: 5q32 Genomic coordinates (GRCh38): 5:148,982,150-149,063,062 (from NCBI)

This gene has 21 transcripts (splice variants), 209 orthologues, 1 paralogue and is associated with 3 phenotypes. Biased expression in testis (RPKM 1.4), brain (RPKM 0.6) and 6 other tissues.

功能概要

该基因编码的蛋白质具有两个 N 末端 Src 同源 3 (SH3) 结构域和 10 个四肽重复序列 (TPR) 基序,是一个小基因家族的成员。该基因产物已被提议为衔接子或对接分子。该基因的突变导致常染色体隐性遗传 Charcot-Marie-Tooth 病 4C 型,这是一种儿童期发病的神经退行性疾病,其特征是运动和感觉神经元脱髓鞘。[RefSeq 提供,2008 年 7 月]

This gene encodes a protein with two N-terminal Src homology 3 (SH3) domains and 10 tetratricopeptide repeat (TPR) motifs, and is a member of a small gene family. The gene product has been proposed to be an adapter or docking molecule. Mutations in this gene result in autosomal recessive Charcot-Marie-Tooth disease type 4C, a childhood-onset neurodegenerative disease characterized by demyelination of motor and sensory neurons. [provided by RefSeq, Jul 2008]

SH3TC2 基因产物(1)

mRNA Protein Name
NM_024577.4 NP_078853.2 SH3 domain and tetratricopeptide repeat-containing protein 2

SH3TC2 蛋白结构

SH3_9

SH3_9: Variant SH3 domain (275 - 323)

TPR_12

TPR_12: Tetratricopeptide repeat (837 - 906)

TPR_1

TPR_1: Tetratricopeptide repeat (1168 - 1197)

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  • 1288 a.a.
蛋白主名 其他名称

SH3 domain and tetratricopeptide repeat-containing protein 2

SH3 domain and tetratricopeptide repeats-containing protein 2

关联疾病

疾病名称 别名
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

Mononeuropathy Of The Median Nerve, Mild

Carpal Tunnel Syndrome

MNMN

Susceptibility To Mononeuropathy Of The Median Nerve, Mild

Carpal Tunnel Syndrome, Susceptibility To

Mononeuropathy Of The Median Nerve Mild

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

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

Genetic Motor Neuron Disease

Genetic Anterior Horn Cell Disease

Mononeuropathy

Mononeuropathies

Peripheral Nervous System Disease

Peripheral Neuropathy

Peripheral Nerve Disease

Peripheral Nerve Disorders

Neuropathy, Peripheral

Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Tooth Disease

Tooth Diseases

Teeth Disease

Tooth Disorders

Neuropathy

Peripheral Neuropathy

Peripheral Neuropathies

Carpal Tunnel Syndrome

Cts

Carpal Tunnel Syndrome, Familial

Carpal Tunnel Syndrome 1

CTS1

Amyotrophy, Thenar, Of Carpal Origin

Carpal Tunnel Median Neuropathy

Cts - Carpal Tunnel Syndrome

Median Nerve Entrapment

Carpal Canal

Carpal Tunnel

Compression Neuropathy, Carpal Tunnel

Distal Median Nerve Compression

Distal Median Nerve Entrapment

Entrapment Neuropathy, Carpal Tunnel

Median Neuropathy, Carpal Tunnel

Median Neuropathy Carpal Tunnel

Thenar Amyotrophy Of Crapal Origin

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, Type 4d

Charcot-Marie-Tooth Disease Type 4d

CMT4D

Hmsnl

Hmsn4d

Charcot-Marie-Tooth Neuropathy Type 4d

Hereditary Motor And Sensory Neuropathy Lom Type

Hmsn-Lom

Neuropathy, Hereditary Motor And Sensory, Lom Type

Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4d

Charcot-Marie-Tooth Neuropathy, Type 4d

Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4d

Hmsn Lom Type

Hmsn, Lom Type

Hereditary Motor And Sensory Neuropathy, Lom Type

Charcot-Marie-Tooth Disease 4d

Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4d

Hereditary Motor And Sensory Neuropathy Ivd

Hmsn Ivd

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

Sciatic Neuropathy
Charcot-Marie-Tooth Disease, Type 4a

Charcot-Marie-Tooth Disease Type 4a

CMT4A

Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4a

Charcot-Marie-Tooth Neuropathy, Type 4a

Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4a

Charcot-Marie-Tooth Neuropathy Type 4a

Charcot-Marie-Tooth Disease 4a

Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive, Type 4a

Charcot-Marie-Tooth Disease Neuropathy Type 4a

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

Neuropathy, Hereditary Motor And Sensory, Russe Type

Charcot-Marie-Tooth Disease Type 4g

HMSNR

Cmt4g

Hereditary Motor And Sensory Neuropathy, Russe Type

Charcot-Marie-Tooth Disease, Type 4g

Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4g

Charcot-Marie-Tooth Neuropathy Type 4g

Charcot-Marie-Tooth Neuropathy, Type 4g

Autosomal Recessive Charcot-Marie-Tooth Disease Type 4g

Hereditary Motor And Sensory Neuropathy Russe Type

Charcot-Marie-Tooth Disease Autosomal Recessive Type 4g

Scoliosis
Charcot-Marie-Tooth Disease, Demyelinating, Type 1a

Charcot-Marie-Tooth Disease Type 1a

CMT1A

Charcot-Marie-Tooth Disease, Type Ia

Hmsn1a

Hereditary Motor And Sensory Neuropathy Ia

Hmsn Ia

Charcot-Marie-Tooth Neuropathy, Type 1a

Charcot-Marie-Tooth Disease, Type 1a

Charcot-Marie-Tooth Neuropathy Type 1a

Hereditary Motor And Sensory Neuropathy 1a

Microduplication 17p12

Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1a

Autosomal Dominant Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 1a

Cmt 1a

Charcot Marie Tooth Disease Type 1a

Hmsn 1a

Charcot-Marie-Tooth Disease 1a

Charcot-Marie-Tooth Disease Demyelinating Type 1a

Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Unlinked To Duffy

Charcot-Marie-Tooth Disease, Axonal, Type 2j

CMT2J

Charcot-Marie-Tooth Disease, Type 2j

Charcot-Marie-Tooth Disease Type 2j

Charcot-Marie-Tooth Disease Type 2 With Hearing Loss And Pupillary Abnormalities

Charcot-Marie-Tooth Neuropathy Type 2j

Charcot-Marie-Tooth Neuropathy, Type 2j

Charcot-Marie-Tooth Disease, Type 2, With Hearing Loss And Pupillary Abnormalities

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2j

Charcot-Marie-Tooth Disease 2j

Charcot-Marie-Tooth Disease Axonal Type 2j

Charcot-Marie-Tooth Disease Neuronal Type 2j

Neuropathy, Hereditary, With Liability To Pressure Palsies

Tomaculous Neuropathy

Hereditary Neuropathy With Liability To Pressure Palsies

HNPP

Polyneuropathy, Familial Recurrent

Neuropathy, Recurrent, With Pressure Palsies

Current Pressure-Sensitive Neuropathy

Familial Recurrent Polyneuropathy

Heterozygous Microdeletion 17p11.2p12

Potato-Grubbing Palsy

Tulip-Bulb Digger'S Palsy

Compression Neuropathy

Entrapment Neuropathy

Familial Pressure Sensitive Neuropathy

Hereditary Motor And Sensory Neuropathy

Hereditary Pressure Sensitive Neuropathy

Inherited Tendency To Pressure Palsies

Hereditary Liability To Pressure Palsies

Nerve Compression Syndrome

Entrapment Neuropathies

Hereditary Motor And Sensory Neuropathies

Charcot-Marie-Tooth Disease, Demyelinating, Type 1c

Charcot-Marie-Tooth Disease Type 1c

CMT1C

Hmsn1c

Hmsn Ic

Charcot-Marie-Tooth Disease, Type 1c

Charcot-Marie-Tooth Neuropathy Type 1c

Cmt, Slow Nerve Conduction Type C

Charcot-Marie-Tooth Neuropathy, Type 1c

Neuropathy, Hereditary Motor And Sensory, Type Ic

Cmt Slow Nerve Conduction Type C

Neuropathy Hereditary Motor And Sensory Type 1c

Charcot-Marie-Tooth Disease 1c

Charcot-Marie-Tooth Disease Demyelinating Type 1c

Hereditary Motor And Sensory Neuropathy Ic

Charcot-Marie-Tooth Disease, Type Ic

Mononeuritis Of Lower Limb
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive

Gamstorp-Wohlfart Syndrome

Autosomal Recessive Axonal Neuropathy With Neuromyotonia

NMAN

Myokymia, Myotonia, And Muscle Wasting

Aran-Nm

Autosomal Recessive Charcot-Marie-Tooth Disease Type 2 With Neuromyotonia

Autosomal Recessive Neuromyotonia And Axonal Neuropathy

Arcmt2-Nm

Myokymia, Myotonia And Muscle Wasting

Myokymia Myotonia And Muscle Wasting

Isaacs Syndrome

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

Neuropathy, Hereditary Sensory And Autonomic, Type Ic

HSAN1C

Hsan Ic

Hsn1c

Hsn Ic

Hereditary Sensory And Autonomic Neuropathy Type 1c

Neuropathy, Hereditary Sensory And Autonomic, Type 1c

Neuropathy, Hereditary Sensory, Type Ic

Hereditary Sensory And Autonomic Neuropathy Type Ic

Neuropathy, Hereditary Sensory And Autonomic, 1c

Hereditary Sensory Neuropathy Type Ic

Neuropathy, Hereditary Sensory/Autonomic, Type Ic

Neuropathy, Sensory And Autonomic, Hereditary, Type Ic

Lesion Of Sciatic Nerve

Nerve Lesion Sciatic

Sciatic Neuropathy

Charcot-Marie-Tooth Disease, Demyelinating, Type 1b

Charcot-Marie-Tooth Disease Type 1b

CMT1B

Hereditary Motor And Sensory Neuropathy Ib

Hmsn Ib

Hmsn1b

Peroneal Muscular Atrophy

Charcot-Marie-Tooth Disease, Type 1b

Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Linked To Duffy

Charcot-Marie-Tooth Neuropathy Type 1b

Charcot-Marie-Tooth Disease, Type Ib

Hereditary Motor And Sensory Neuropathy I

Hmsn I

Hmsn1

Charcot-Marie-Tooth Neuropathy, Type 1b

Charcot-Marie-Tooth Disease, Slow Nerve Conduction Type, Linked To Duffy

Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1b

Autosomal Dominant Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 1b

Charcot-Marie-Tooth Disease 1b

Charcot-Marie-Tooth Disease Demyelinating Type 1b

Hmsn Type I

Hereditary Motor And Sensory Neuropathy Type I

Charcot-Marie-Tooth Disease

Motor Peripheral Neuropathy

Motor Neuritis

Peripheral Motor Neuropathy

Hereditary Motor And Sensory Neuropathy

Hsmn

Hsmn - Hereditary Sensory And Motor Neuropathy

Neuropathic Muscular Atrophy

Hereditary Sensory And Motor Neuropathy

Hereditary Motor And Sensory Neuropathies

Nerve Compression Syndrome

Entrapment Neuropathies

Compression Neuropathy

Entrapment Neuropathy

Peripheral Nerve Entrapment Syndrome

Nerve Compression Syndromes

Hereditary Liability To Pressure Palsies

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

Charcot-Marie-Tooth Disease, Axonal, Type 2i

CMT2I

Charcot-Marie-Tooth Disease, Type 2i

Charcot-Marie-Tooth Disease Type 2i

Charcot-Marie-Tooth Neuropathy Type 2i

Charcot-Marie-Tooth Neuropathy, Type 2i

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2i

Charcot-Marie-Tooth Disease 2i

Charcot-Marie-Tooth Disease Axonal Type 2i

Charcot-Marie-Tooth Disease Neuronal Type 2i

Charcot-Marie-Tooth Disease, Type 4h

Charcot-Marie-Tooth Disease Type 4h

CMT4H

Charcot-Marie-Tooth Neuropathy Type 4h

Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4h

Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4h

Charcot-Marie-Tooth Neuropathy, Type 4h

Autosomal Recessive Charcot-Marie-Tooth Disease Type 4h

Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4h

Charcot-Marie-Tooth Disease 4h

Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4h

Charcot-Marie-Tooth Disease, X-Linked Dominant, 1

CMTX1

Cmtx

Charcot-Marie-Tooth Disease X-Linked Dominant 1

Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 1

X-Linked Charcot-Marie-Tooth Disease

Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked

Cmt1x

X-Linked Charcot-Marie-Tooth Disease Type 1

X-Linked Hereditary Motor And Sensory Neuropathy

Hereditary Motor And Sensory Neuropathy, X-Linked

Hmsn, X-Linked

Charcot-Marie-Tooth Neuropathy, X-Linked, 1

Cmt2, Formerly

Charcot-Marie-Tooth Neuropathy X-Linked Dominant 1

Charcot-Marie-Tooth Neuropathy X-Linked 1

Charcot-Marie-Tooth Peroneal Muscular Atrophy X-Linked

Hereditary Motor And Sensory Neuropathy X-Linked

Hmsn X-Linked

Charcot-Marie-Tooth, X-Linked

Charcot-Marie-Tooth Disease, X-Linked Dominant, Type 1

Charcot-Marie-Tooth Disease, X-Linked, 1

Polyneuropathy

Polyneuropathies

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

Hypertrophic Neuropathy Of Dejerine-Sottas

Dejerine-Sottas Disease

Dejerine-Sottas Syndrome

Charcot-Marie-Tooth Disease Type 3

DSS

Hereditary Motor And Sensory Neuropathy Type Iii

Hmsn3

Dejerine-Sottas Neuropathy

Hmsn Iii

Charcot-Marie-Tooth Disease, Type 3

Cmt3

Dsn

Hmsn 3

Hereditary Motor And Sensory Neuropathy Type 3

Hereditary Motor And Sensory Neuropathy 3

Hypertrophic Neuropathy Of Infancy

Charcot-Marie-Tooth Disease Demyelinating Type 4f

Charcot-Marie-Tooth Disease Type 4f

Charcot-Marie-Tooth Neuropathy Type 4f

Cmt4f

Hereditary Motor And Sensory Neuropathy Iii

Charcot-Marie-Tooth Disease, Demyelinating, Type 4f

Charcot-Marie-Tooth Disease, Demyelinating, Type 4f

Charcot-Marie-Tooth Disease Type 4f

CMT4F

Charcot-Marie-Tooth Disease, Type 4f

Charcot-Marie-Tooth Disease 4f

Charcot-Marie-Tooth Disease Demyelinating Autosomal Recessive 4f

Charcot-Marie-Tooth Neuropathy Type 4f

Dejerine-Sottas Disease

Neuropathy, Hereditary Sensory And Autonomic, Type Ia

HSAN1A

Hsan Ia

Hsan1

Hsn Ia

Hereditary Sensory And Autonomic Neuropathy Type 1a

Neuropathy, Hereditary Sensory And Autonomic, Type 1a

Neuropathy, Hereditary Sensory, Type Ia

Hsn1a

Neuropathy, Hereditary Sensory Radicular, Autosomal Dominant, Type 1a

Hereditary Sensory And Autonomic Neuropathy Type Ia

Neuropathy, Hereditary Sensory And Autonomic, 1a

Hereditary Sensory Neuropathy Type Ia

Hereditary Sensory Radicular Neuropathy Autosomal Dominant Type 1a

Hsn1

Neuropathy, Sensory And Autonomic, Hereditary, Type 1a

Hereditary Sensory Autonomic Neuropathy, Type 1

Charcot-Marie-Tooth Disease Type X
Charcot-Marie-Tooth Disease, Type 4b3

Charcot-Marie-Tooth Disease Type 4b3

CMT4B3

Charcot-Marie-Tooth Disease With Focally Folded Myelin

Charcot-Marie-Tooth Disease 4b3

Charcot-Marie-Tooth Neuropathy Type 4b3

Charcot-Marie-Tooth Disease, Axonal, Type 2z

CMT2Z

Charcot-Marie-Tooth Disease Axonal Type 2z

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2z

Charcot-Marie-Tooth Neuropathy, Type 2z

Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2z

Charcot-Marie-Tooth Neuropathy Type 2z

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2z

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Morc2 Mutation

Charcot-Marie-Tooth Disease 2z

Charcot-Marie-Tooth Disease, Type 2z

Charcot-Marie-Tooth Disease, Dominant Intermediate E

CMTDIE

Charcot-Marie-Tooth Disease Dominant Intermediate E

Charcot-Marie-Tooth Neuropathy With Focal Segmental Glomerulonephritis

Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type E

Charcot-Marie-Tooth Disease-Nephropathy Syndrome

Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, E

Charcot-Marie-Tooth Disease, Dominant Intermediate, Type E

Postaxial Acrofacial Dysostosis

Miller Syndrome

POADS

Genee-Wiedemann Syndrome

Postaxial Acrodysostosis

Genee-Wiedemann Acrofacial Dysostosis

Acrofacial Dysostosis, Genee-Wiedmann Type

Mandibulfacial Dysostosis With Postaxial Limb Anomalies

Gwafd

Poads Syndrome

Postaxial Acrofacial Dysostosis Syndrome

Wildervanck-Smith Syndrome

Acrofacial Dysostosis, Genee-Wiedemann Type

Mandibulofacial Dysostosis With Postaxial Limb Anomalies

Genée-Wiedemann Syndrome

Chromosome 11p Deletion Syndrome

Charcot-Marie-Tooth Disease, Type 4j

Charcot-Marie-Tooth Disease Type 4j

CMT4J

Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4j

Autosomal Recessive Charcot-Marie-Tooth Disease Type 4j

Charcot-Marie-Tooth Disease 4j

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

Charcot-Marie-Tooth Disease, Type 4k

Charcot-Marie-Tooth Disease Type 4k

CMT4K

Charcot-Marie-Tooth Disease, Demyelinating, Autosomal Recessive, Type 4k

Charcot-Marie-Tooth Neuropathy, Demyelinating, Autosomal Recessive, Type 4k

Surf1-Related Charcot-Marie-Tooth Disease Type 4

Surf1-Related Cmt4

Surf1-Related Severe Demyelinating Charcot-Marie-Tooth Disease

Autosomal Recessive Demyelinating Charcot-Marie-Tooth Disease Type 4k

Autosomal Recessive Demyelinating Charcot-Marie-Tooth Neuropathy Type 4k

Charcot-Marie-Tooth Disease 4k

Charcot-Marie-Tooth Disease, Demyelinating, Type 4k

Charcot-Marie-Tooth Neuropathy, Type 4k

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

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

Neuronopathy, Distal Hereditary Motor, Type Va

Dsmav

Distal Hereditary Motor Neuropathy Type V

Young Adult-Onset Distal Hereditary Motor Neuropathy

Neuronopathy, Distal Hereditary Motor, Type V

Distal Hereditary Motor Neuronopathy Type 5

Dhmn5

Distal Spinal Muscular Atrophy Type 5

HMN5A

Hmn5

Dhmn5a

Dhmn Va

Dsmava

Spinal Muscular Atrophy, Distal, With Upper Limb Predominance

Distal Hmn V

Autosomal Recessive Distal Spinal Muscular Atrophy Type 5

Dsma5

Young Adult-Onset Dhmn

Dhmn-V

Hmn V

Neuronopathy, Distal Hereditary Motor, Type 5a

Hmn 5a

Neuropathy, Distal Hereditary Motor, Type Va

Spinal Muscular Atrophy, Distal, Type Va

Spinal Muscular Atrophy, Distal, Type V

Distal Spinal Muscular Atrophy Type V

Distal Spinal Muscular Atrophy With Upper Limb Predominance

Distal Hereditary Motor Neuronopathy Type 5a

Distal Hmn Va

Distal Spinal Muscular Atrophy Type Va

Distal Hereditary Motor Neuropathy, Type V

Distal Hereditary Motor Neuronopathy, Type V

Distal Spinal Muscular Atrophy, Type V

Spinal Muscular Atrophy, Distal Type V

Distal Hereditary Motor Neuropathy Type 5

Neuronopathy, Distal Hereditary Motor, 5a

Dhmn V

Distal Hereditary Motor Neuronopathy Type Va

Distal Hereditary Motor Neuropathy Type Va

Dsma-V

Hmn Va

Spinal Muscular Atrophy Distal Type V

Spinal Muscular Atrophy Distal Type Va

Spinal Muscular Atrophy Distal With Upper Limb Predominance

Neuropathy, Distal Hereditary Motor, Type V

Neuropathy, Motor, Distal, Hereditary, Type Va

Charcot-Marie-Tooth Disease, Axonal, Type 2t

CMT2T

Charcot-Marie-Tooth Disease Axonal Type 2t

Charcot-Marie-Tooth Neuropathy, Type 2t

Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2t

Ar-Cmt2t

Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Type 2t

Mme-Related Autosomal Dominant Charcot Marie Tooth Disease Type 2

Charcot-Marie-Tooth Neuropathy Type 2t

Charcot-Marie-Tooth Disease Type 2t

Mme-Related Autosomal Dominant Cmt2

Mme-Related Autosomal Dominant Hereditary Motor And Sensory Neuropathy Type 2

Charcot-Marie-Tooth Disease 2t

Charcot-Marie-Tooth Neuropathy Axonal Type 2t

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

Charcot-Marie-Tooth Disease, Axonal, Type 2d

Charcot-Marie-Tooth Disease Type 2d

CMT2D

Charcot-Marie-Tooth Disease, Type 2d

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2d

Charcot-Marie-Tooth Disease Neuronal Type 2d

Charcot-Marie-Tooth Neuropathy Type 2d

Charcot-Marie-Tooth Disease, Neuronal, Type 2d

Charcot-Marie-Tooth Neuropathy, Type 2d

Charcot-Marie-Tooth Disease 2d

Charcot-Marie-Tooth Disease Axonal Type 2d

Charcot-Marie-Tooth Disease, Demyelinating, Type 1f

Charcot-Marie-Tooth Disease Type 1f

CMT1F

Charcot-Marie-Tooth Disease, Type 1f

Charcot-Marie-Tooth Neuropathy Type 1f

Charcot-Marie-Tooth Neuropathy, Type 1f

Charcot-Marie-Tooth Disease Type 2b5

Ar-Cmt2b5

Autosomal Recessive Charcot-Marie-Tooth Disease Type 2b5

Seoan Due To Nefl Deficiency

Severe Early-Onset Axonal Neuropathy Due To Nefl Deficiency

Severe Early-Onset Axonal Neuropathy Due To Light Neurofilament Subunit Deficiency

Charcot-Marie-Tooth Disease 1f

Charcot-Marie-Tooth Disease Demyelinating Type 1f

Charcot-Marie-Tooth Disease, Type If

Charcot-Marie-Tooth Disease, Axonal, Type 2p

CMT2P

Charcot-Marie-Tooth Disease Axonal Type 2p

Charcot-Marie-Tooth Disease Type 2p

Charcot-Marie-Tooth Neuropathy, Type 2p

Charcot-Marie-Tooth Disease, Axonal, Type 2g, Formerly

Cmt2g, Formerly

Charcot-Marie-Tooth Neuropathy Type 2p

Charcot-Marie-Toothe Disease, Axonal, Type 2p

Charcot-Marie-Tooth Disease 2p

Charcot-Marie-Tooth Disease, Axonal Type 2g

Charcot-Marie-Tooth Neuropathy Axonal Type 2p

Cmt2g

Charcot-Marie-Tooth Disease, Type 2p

Charcot-Marie-Tooth Disease, Axonal, Type 2g

Autosomal Dominant Distal Hereditary Motor Neuronopathy

Autosomal Dominant Distal Hereditary Motor Neuropathy

Autosomal Dominant Dhmn

Autosomal Dominant Distal Spinal Muscular Atrophy

Neuronopathy, Distal Hereditary Motor, Type Viib

HMN7B

Hmn Viib

Dhmn7b

Neuropathy, Distal Hereditary Motor, Type Viib

Distal Hereditary Motor Neuronopathy Type 7b

Distal Hereditary Motor Neuropathy Type Viib

Neuronopathy, Distal Hereditary Motor, Type 7b

Neuropathy, Distal Hereditary Motor, With Vocal Cord Paralysis, Type Viib

Lower Motor Neuron Disease, Dynactin Type

Distal Spinal Muscular Atrophy With Vocal Cord Paralysis Type 7b

Harper-Young Myopathy

Neuronopathy, Distal Hereditary Motor, 7b

Distal Hereditary Motor Neuropathy With Vocal Cord Paralysis Type Viib

Lower Motor Neuron Disease Dynactin Type

Plmnd

Progressive Lower Motor Neuron Disease

Neuropathy, Motor, Distal, Hereditary, Type Viib

Charcot-Marie-Tooth Disease, X-Linked Recessive, 5

CMTX5

Rosenberg-Chutorian Syndrome

Charcot-Marie-Tooth Disease X-Linked Recessive 5

Optic Atrophy, Polyneuropathy, And Deafness

Charcot-Marie-Tooth Neuropathy X-Linked Recessive 5

Cmt5x

X-Linked Charcot-Marie-Tooth Disease Type 5

Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 5

Optic Atrophy Polyneuropathy Deafness

Optic Atrophy With Polyneuropathy And Deafness

Charcot-Marie-Tooth Disease, X-Linked Recessive, Type 5

Neuropathy, Hereditary Sensory And Autonomic, Type Iia

Hereditary Sensory And Autonomic Neuropathy Type 2

Hsan2

HSAN2A

Morvan Disease

Hereditary Sensory And Autonomic Neuropathy Type Ii

Neurogenic Acroosteolysis

Hsan Iia

Hsn2a

Hsn Iia

Neuropathy, Progressive Sensory, Of Children

Neuropathy, Congenital Sensory

Neuropathy, Hereditary Sensory And Autonomic, Type Ii

Hereditary Sensory And Autonomic Neuropathy Type 2a

Hereditary Sensory And Autonomic Neuropathy Type Iia

Hsanii

Congenital Sensory Neuropathy

Hsan Type Ii

Morvan Syndrome

Neuropathy, Hereditary Sensory And Autonomic, Type 2a

Morvan'S Disease

Neuropathy, Hereditary Sensory, Type Iia

Acroosteolysis, Neurogenic

Acroosteolysis, Giaccai Type

Neuropathy, Hereditary Sensory Radicular, Autosomal Recessive

Hereditary Sensory Autonomic Neuropathy Type 2

Giaccai Type Acroosteolysis

Hereditary Sensory Neuropathy Type 2

Hereditary Sensory Radicular Neuropathy, Recessive Form

Hsan2b

Hsan2c

Hsan2d

Hsn Type Ii

Autosomal Recessive Sensory Radicular Neuropathy

Limbic Encephalitis-Neuromyotonia-Hyperhidrosis-Polyneuropathy Syndrome

Morvan Fibrillary Chorea

Neuropathy, Hereditary Sensory And Autonomic, 2a

Acroosteolysis Giaccai Type

Hereditary Sensory Neuropathy Type Iia

Hereditary Sensory Radicular Neuropathy Autosomal Recessive

Progressive Sensory Neuropathy Of Children

Neuropathy Congenital Sensory

Charcot-Marie-Tooth Disease

Neuropathy, Sensory And Autonomic, Hereditary, Type Iia

Hereditary Sensory Autonomic Neuropathy, Type 2

Hereditary Motor And Sensory-Neuropathy Type Ii

Sensory Neuropathy, Hereditary

Neuropathy, Hereditary Sensory And Autonomic, Type Iib

Autosomal Recessive Distal Hereditary Motor Neuronopathy

Autosomal Recessive Distal Spinal Muscular Atrophy

Waardenburg Syndrome, Type 4a

Waardenburg-Shah Syndrome

Shah-Waardenburg Syndrome

Waardenburg Syndrome Type 4a

WS4A

Ws4

Waardenburg Syndrome Type 4

Waardenburg Syndrome Type Iva

Waardenburg Syndrome With Hirschsprung Disease Type 4a

Hirschsprung Disease With Pigmentary Anomaly

Waardenburg-Hirschsprung Syndrome

Waardenburg Syndrome, Type Iva

Waardenburg Syndrome With Hirschsprung Disease, Type 4a

Waardenburg-Hirschsprung Disease

Waardenburg Syndrome, Type 4

Waardenburg Syndrome 4a

Hereditary Sensory Neuropathy

Hereditary Sensory And Autonomic Neuropathy

Hereditary Sensory And Autonomic Neuropathies

Familial Dysautonomia, Type Ii

Hsan

Sensory Neuropathy Hereditary

Neuropathy, Sensory And Autonomic, Hereditary

Neuropathy, Sensory, Hereditary

Sensory Neuropathy, Hereditary

Charcot-Marie-Tooth Disease

Cmt - [Charcot-Marie-Tooth Disease]

Spastic Paraplegia 17, Autosomal Dominant

Silver Syndrome

SPG17

Silver Spastic Paraplegia Syndrome

Spastic Paraplegia With Amyotrophy Of Hands And Feet

Hereditary Spastic Paraplegia 17

Autosomal Dominant Spastic Paraplegia Type 17

Spastic Paraplegia 17

Spastic Paraplegia-Amyotrophy Of Hands And Feet

Autosomal Dominant Spastic Paraplegia 17

Dhmn5b

Distal Hereditary Motor Neuropathy Type 5b

Paraplegia, Spastic, Autosomal Dominant, Type 17

Russell-Silver Syndrome

Neuronopathy, Distal Hereditary Motor, Type Vb

Demyelinating Polyneuropathy

Peripheral Demyelinating Neuropathy

Demyelinating Peripheral Neuropathy

Sensory Peripheral Neuropathy

Sensory Neuropathy

Peripheral Sensory Neuropathy

Hereditary Sensory And Autonomic Neuropathies

Neuromuscular Disease

Neuromuscular Diseases

Neuromuscular Disorders

Neuromuscular Disorder

Bone Structure Disease
Hereditary Sensory And Autonomic Neuropathy Type 1

Hereditary Sensory And Autonomic Neuropathy Type I

Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome

Hsan1e

Hsan1

Dnmt1-Related Dementia, Deafness, And Sensory Neuropathy

Hsn1e

Hsnie

Hereditary Sensory Neuropathy Type Ie

Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome

Hereditary Sensory And Autonomic Neuropathy Type Ie

Hereditary Sensory And Autonomic Neuropathy Type 1e

Hereditary Sensory Neuropathy With Hearing Loss And Dementia

Dnmt1-Complex Disorder

Hereditary Sensory And Autonomic Neuropathy Type 1 With Dementia And Hearing Loss

Hsn Ie

Hereditary Sensory Autonomic Neuropathy, Type 1

Hsan1- [Hereditary Sensory And Autonomic Neuropathy Type I]

Distal Hereditary Motor Neuronopathy Type 2

Distal Hereditary Motor Neuropathy, Type Ii

Distal Hereditary Motor Neuropathy Type 2

Distal Hereditary Motor Neuropathy Type Ii

Hmn Ii

Hmn2

Distal Hereditary Motor Neuronopathy, Type Ii

Distal Spinal Muscular Atrophy Type 2

Dhmn2

Dsma2

Neuropathy, Motor, Distal, Hereditary, Type Ii

Spinal Muscular Atrophy, Jerash Type

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
Bos taurus SH3TC2 VGNC VGNC:34583
Felis catus SH3TC2 VGNC VGNC:65116
Macaca mulatta SH3TC2 VGNC VGNC:77337
Mus musculus SH3TC2 MGD MGI:2444417
Rattus norvegicus SH3TC2 RGD RGD:1309038
Canis familiaris SH3TC2 VGNC VGNC:46136