1. Gene
  2. VCP - valosin containing protein Gene

VCP - valosin containing protein Gene

中文名称:含缬酪肽的蛋白质

种属: Homo sapiens

同用名: p97; TERA; CDC48; FTDALS6

基因 ID: 7415 | 基因类型: protein coding

关于 VCP

Cytogenetic location: 9p13.3 Genomic coordinates (GRCh38): 9:35,056,064-35,072,625 (from NCBI)

This gene has 36 transcripts (splice variants), 229 orthologues, 5 paralogues and is associated with 12 phenotypes. Ubiquitous expression in appendix (RPKM 60.7), thyroid (RPKM 56.9) and 25 other tissues.

功能概要

该基因编码 AAA ATPase 蛋白质家族的成员。编码的蛋白质在蛋白质降解、细胞内膜融合、DNA 修复和复制、细胞周期调节和 NF-kappa B 通路激活中发挥作用。这种蛋白质形成同型六聚体复合物,与多种辅助因子相互作用,并从脂质膜或蛋白质复合物中提取泛素化蛋白质。该基因的突变在人类患者中引起 IBMPFD (包涵体肌病伴佩吉特骨病和额颞叶痴呆) 、ALS (肌萎缩侧索硬化) 和 Charcot-Marie-Tooth 病。[RefSeq 提供,2017 年 8 月]

This gene encodes a member of the AAA ATPase family of proteins. The encoded protein plays a role in protein degradation, intracellular membrane fusion, DNA repair and replication, regulation of the cell cycle, and activation of the NF-kappa B pathway. This protein forms a homohexameric complex that interacts with a variety of cofactors and extracts ubiquitinated proteins from lipid membranes or protein complexes. Mutations in this gene cause IBMPFD (inclusion body myopathy with paget disease of bone and frontotemporal dementia), ALS (amyotrophic lateral sclerosis) and Charcot-Marie-Tooth disease in human patients. [provided by RefSeq, Aug 2017]

VCP 基因产物(3)

mRNA Protein Name
NM_001354927.2 NP_001341856.1 transitional endoplasmic reticulum ATPase isoform 2
NM_007126.5 NP_009057.1 transitional endoplasmic reticulum ATPase isoform 1
NM_001354928.2 NP_001341857.1 transitional endoplasmic reticulum ATPase isoform 2
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 ATP hydrolysis activity IDA
IDA: 通过直接分析推断
24129571 GOA
enables ATP hydrolysis activity IMP
IMP: 通过突变表型推断
23349634 GOA
enables BAT3 complex binding IPI
IPI: 通过物理相互作用推断
21636303 GOA
enables K48-linked polyubiquitin modification-dependent protein binding IDA
IDA: 通过直接分析推断
37816088 GOA
enables deubiquitinase activator activity IDA
IDA: 通过直接分析推断
22970133 GOA
enables identical protein binding IPI
IPI: 通过物理相互作用推断
20512113 GOA
enables polyubiquitin modification-dependent protein binding IDA
IDA: 通过直接分析推断
11483959 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
9452483 GOA
enables protein domain specific binding IPI
IPI: 通过物理相互作用推断
15362974 GOA
enables protein phosphatase binding IPI
IPI: 通过物理相互作用推断
10364224 GOA
enables ubiquitin protein ligase binding IPI
IPI: 通过物理相互作用推断
22590560 GOA
enables ubiquitin-like protein ligase binding IPI
IPI: 通过物理相互作用推断
16186510 GOA
enables ubiquitin-modified protein reader activity IDA
IDA: 通过直接分析推断
29033132 GOA
enables ubiquitin-specific protease binding IPI
IPI: 通过物理相互作用推断
22590560 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in DNA damage response IDA
IDA: 通过直接分析推断
16140914 GOA
involved in ERAD pathway IDA
IDA: 通过直接分析推断
17872946 GOA
involved in ERAD pathway IMP
IMP: 通过突变表型推断
20104022 GOA
involved in NADH metabolic process IMP
IMP: 通过突变表型推断
23498975 GOA
involved in autophagosome maturation IMP
IMP: 通过突变表型推断
20104022 GOA
involved in autophagy IMP
IMP: 通过突变表型推断
20104022 GOA
involved in cellular response to arsenite ion IMP
IMP: 通过突变表型推断
29804830 GOA
involved in cellular response to heat IMP
IMP: 通过突变表型推断
29804830 GOA
involved in cellular response to misfolded protein IMP
IMP: 通过突变表型推断
24089527 GOA
involved in cytoplasm protein quality control IDA
IDA: 通过直接分析推断
29033132 GOA
involved in double-strand break repair IDA
IDA: 通过直接分析推断
10855792 GOA
involved in endoplasmic reticulum stress-induced pre-emptive quality control IMP
IMP: 通过突变表型推断
26565908 GOA
involved in endosome to lysosome transport via multivesicular body sorting pathway IMP
IMP: 通过突变表型推断
21822278 GOA
involved in flavin adenine dinucleotide catabolic process IMP
IMP: 通过突变表型推断
23498975 GOA
involved in macroautophagy IMP
IMP: 通过突变表型推断
27753622 GOA
involved in negative regulation of hippo signaling IGI
IGI: 通过遗传相互作用推断
38710747 GOA
involved in negative regulation of protein localization to chromatin IDA
IDA: 通过直接分析推断
35013556 GOA
involved in negative regulation of smoothened signaling pathway IMP
IMP: 通过突变表型推断
23747190 GOA
involved in positive regulation of ATP biosynthetic process IMP
IMP: 通过突变表型推断
23498975 GOA
involved in positive regulation of Lys63-specific deubiquitinase activity IDA
IDA: 通过直接分析推断
22970133 GOA
involved in positive regulation of canonical Wnt signaling pathway IDA
IDA: 通过直接分析推断
28689657 GOA
involved in positive regulation of mitochondrial membrane potential IMP
IMP: 通过突变表型推断
23498975 GOA
involved in positive regulation of non-canonical NF-kappaB signal transduction IDA
IDA: 通过直接分析推断
37816088 GOA
involved in positive regulation of oxidative phosphorylation IMP
IMP: 通过突变表型推断
23498975 GOA
involved in positive regulation of proteasomal ubiquitin-dependent protein catabolic process IDA
IDA: 通过直接分析推断
9452483 GOA
involved in positive regulation of protein K63-linked deubiquitination IDA
IDA: 通过直接分析推断
22970133 GOA
involved in positive regulation of protein catabolic process IDA
IDA: 通过直接分析推断
11483959 GOA
involved in positive regulation of protein-containing complex assembly IDA
IDA: 通过直接分析推断
18775313 GOA
involved in proteasomal protein catabolic process IMP
IMP: 通过突变表型推断
26565908 GOA
involved in proteasome-mediated ubiquitin-dependent protein catabolic process IDA
IDA: 通过直接分析推断
31387940 GOA
involved in proteasome-mediated ubiquitin-dependent protein catabolic process IMP
IMP: 通过突变表型推断
20104022 GOA
involved in protein ubiquitination IDA
IDA: 通过直接分析推断
22120668 GOA
involved in protein-DNA covalent cross-linking repair IDA
IDA: 通过直接分析推断
32152270 GOA
involved in regulation of aerobic respiration IMP
IMP: 通过突变表型推断
23498975 GOA
involved in regulation of protein localization to chromatin IDA
IDA: 通过直接分析推断
32152270 GOA
involved in retrograde protein transport, ER to cytosol IDA
IDA: 通过直接分析推断
15215856 GOA
involved in retrograde protein transport, ER to cytosol IMP
IMP: 通过突变表型推断
25660456 GOA
involved in stress granule disassembly IDA
IDA: 通过直接分析推断
36692217 GOA
involved in stress granule disassembly IMP
IMP: 通过突变表型推断
29804830 GOA
involved in translesion synthesis IMP
IMP: 通过突变表型推断
23042605 GOA
involved in viral genome replication IMP
IMP: 通过突变表型推断
22379090 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of Derlin-1 retrotranslocation complex IDA
IDA: 通过直接分析推断
15215856 GOA
part of VCP-NPL4-UFD1 AAA ATPase complex IPI
IPI: 通过物理相互作用推断
20414249 GOA
part of VCP-NSFL1C complex IPI
IPI: 通过物理相互作用推断
21645854 GOA
located in cytoplasm IDA
IDA: 通过直接分析推断
27753622 GOA
located in cytoplasmic stress granule IDA
IDA: 通过直接分析推断
29804830 GOA
located in cytosol IDA
IDA: 通过直接分析推断
10855792 GOA
is active in cytosol IMP
IMP: 通过突变表型推断
38710747 GOA
located in endoplasmic reticulum IDA
IDA: 通过直接分析推断
15215856 GOA
is active in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
24129571 GOA
located in endoplasmic reticulum membrane IDA
IDA: 通过直接分析推断
17872946 GOA
located in lipid droplet IDA
IDA: 通过直接分析推断
23297223 GOA
located in nucleus IDA
IDA: 通过直接分析推断
10855792 GOA
located in perinuclear region of cytoplasm IDA
IDA: 通过直接分析推断
16275660 GOA
part of proteasome complex IDA
IDA: 通过直接分析推断
9452483 GOA
part of protein-containing complex IDA
IDA: 通过直接分析推断
21822278 GOA
located in site of double-strand break IDA
IDA: 通过直接分析推断
22120668 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

VCP 蛋白结构

CDC48_N

CDC48_N: Cell division protein 48 (CDC48), N-terminal domain (25 - 107)

CDC48_2

CDC48_2: Cell division protein 48 (CDC48), domain 2 (126 - 189)

AAA

AAA: ATPase family associated with various cellular activities (AAA) (241 - 370)

AAA

AAA: ATPase family associated with various cellular activities (AAA) (514 - 647)

Vps4_C

Vps4_C: Vps4 C terminal oligomerisation domain (719 - 760)

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

transitional endoplasmic reticulum ATPase

15S Mg(2+)-ATPase p97 subunit

TER ATPase

重组 VCP 蛋白

目录号 产品名 蛋白编号 纯度
HY-P71420 VCP Protein, Human (His) P55072 (A2-N589) ≥95%

关联疾病

疾病名称 别名
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia

Ibmpfd

Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia

Pagetoid Amyotrophic Lateral Sclerosis

Pagetoid Neuroskeletal Syndrome

Inclusion Body Myopathy With Paget Disease Of Bone And/Or Frontotemporal Dementia

Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone And/Or Frontotemporal Dementia

Multisystem Proteinopathy

Limb-Girdle Muscular Dystrophy With Paget Disease Of Bone

Inclusion Body Myopathy With Paget'S Disease Of Bone And Frontotemporal Dementia

Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dement

Lower Motor Neuron Degeneration With Paget-Like Bone Disease

Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone

Myopathy, Inclusion Body, With Early-Onset Paget Disease And Frontotemporal Dementia

Movement Disease

Movement Disorders

Movement Disorder

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1

FTDALS1

Frontotemporal Dementia And/Or Motor Neuron Disease

Ftdmnd

Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia

Alsftd

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-1

Frontotemporal Dementia With Motor Neuron Disease

Ftdals

Ftd-Als

Ftd-Mnd

Frontotemporal Dementia With Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis With Frontotemporal Dementia 1

Amyotrophic Lateral Sclerosis/Frontotemporal Dementia

Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia 1

Frontotemporal Lobar Degeneration

Grn-Related Frontotemporal Dementia

Myofibrillar Myopathy

Desmin Related Myopathy

Myotilinopathy

Myopathy, Myofibrillar

Alpha Beta Crystallinopathy

Desmin Storage Myopathy

Desminopathy

Filaminopathy

Protein Surplus Myopathy

Zaspopathy

Myofibrillar Myopathies

Myopathy, Myofibrillar, Desmin-Related

Myopathy, Desmin Storage

Mfm - [Myofibrillar Myopathy]

Parkinson Disease, Late-Onset

Parkinson Disease

Parkinson'S Disease

PD

PARK

Parkinson Disease, Susceptibility To

Late Onset Parkinson'S Disease

Late Onset Parkinson Disease

Paralysis Agitans

Primary Parkinsonism

Idiopathic Parkinson Disease

Parkinson'S

Parkinson Disease, Late-Onset, Susceptibility To

Parkinson Disease, Age Of Onset, Modifier

Lewy Body Parkinson Disease

Idiopathic Parkinson'S Disease

Pd - [Parkinson Disease]

Parkinson Disease Nos

Parkinson, Nos

Primary Parkinson Disease

Nervous System Disease

Abnormality Of The Nervous System

Nervous System Diseases

Nervous System Disorder

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis

ALS

Lou Gehrig Disease

Amyotrophic Lateral Sclerosis Type 1

Charcot Disease

ALS1

Amyotrophic Lateral Sclerosis, Susceptibility To

Fals

Lou Gehrig'S Disease

Mnd

Motor Neuron Disease

Familial Amyotrophic Lateral Sclerosis

Amyotrophic Lateral Sclerosis 1, Familial

Amyotrophic Lateral Sclerosis 1, Autosomal Dominant

Motor Neuron Disease, Bulbar

Motor Neurone Disease

Amyotrophic Lateral Sclerosis With Dementia

Dementia With Amyotrophic Lateral Sclerosis

Motor Neuron Disease, Amyotrophic Lateral Sclerosis

Sclerosis, Lateral, Amyotrophic

Sclerosis, Lateral, Amyotrophic, Type 1

Amyotrophic Sclerosis

Als - [Amyotrophic Lateral Sclerosis]

Wasting Palsy

Amyotrophic Paralysis

Amyotrophy Lateral Sclerosis

Wasting Paralysis

Spinal Progressive Amyotrophy

Progressive Atrophic Paralysis

Amyotrophic Lateral Sclerosis Type 15

Amyotrophic Lateral Sclerosis 15, With Or Without Frontotemporal Dementia

Als15

Amyotrophic Lateral Sclerosis 15

Supranuclear Palsy, Progressive, 1

Progressive Supranuclear Palsy

Steele-Richardson-Olszewski Syndrome

Supranuclear Palsy, Progressive

Psp

Progressive Supranuclear Ophthalmoplegia

PSNP1

Familial Progressive Supranuclear Palsy

Richardson'S Syndrome

Psp Syndrome

Progressive Supranuclear Palsy 1

Supranuclear Palsy Progressive

Ophthalmoplegia, Supranuclear, Progressive

Steele-Richardson-Olszewksi Syndrome

Amyotrophic Lateral Sclerosis 16, Juvenile

Amyotrophic Lateral Sclerosis Type 16

ALS16

Amyotrophic Lateral Sclerosis 16

Sclerosis, Lateral, Amyotrophic, Type 16, Juvenile

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone With Or Without Frontotemporal Dementia 1

Ibmpfd1

Msp1

Multisystem Proteinopathy 1

Inclusion Body Myopathy With Early-Onset Paget Disease Of Bone With Or Without Frontotemporal Dementia 2

Ibmpfd2

Msp2

Multisystem Proteinopathy 2

Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia

ALS6

Amyotrophic Lateral Sclerosis 6, With Or Without Frontotemporal Dementia

Amyotrophic Lateral Sclerosis 6 Without Frontotemporal Dementia

Amyotrophic Lateral Sclerosis 6

Muscle Tissue Disease
Dysgraphia

Agraphia

Werner Syndrome

Werner'S Syndrome

WRN

Adult Progeria

Ws

Adult Premature Ageing Syndrome

Adult Premature Aging Syndrome

Werners Syndrome

Aphasia
Dementia

Dementias

Presenile Dementia

Alzheimer Type Dementia

Alzheimer Sclerosis

Alzheimer Disease Dementia

Alzheimer Dementia

Primary Degenerative Alzheimer Type Dementia

End Stage Alzheimer'S Dementia

Alzheimer'S Type Atypical Dementia

Alzheimer Type Presenile Dementia

Early Onset Alzheimer Dementia

Dementia In Alzheimer Disease Type 2

Dementia In Alzheimer Disease With Early Onset

Early Onset Alzheimer Type Dementia, Uncomplicated

Primary Degenerative Alzheimer Type Dementia, Early Onset

Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated

Alzheimer Disease Dementia With Early Onset

Presenile Sclerosis

Presenile Brain Sclerosis

Presenile Alzheimer Brain Sclerosis

Late Onset Alzheimer Dementia

Dementia In Alzheimer Disease Type 1

Dementia In Alzheimer Disease With Late Onset

Primary Degenerative Alzheimer Type Dementia, Late Onset

Sdat - [Senile Dementia, Alzheimer Type]

Alzheimer Disease Dementia With Late Onset

Late Onset Alzheimer Brain Sclerosis

Senile Alzheimer Brain Disease

Senile Alzheimer Brain Sclerosis

Senile Primary Degenerative Alzheimer Type Dementia

Senile Dementia Of The Alzheimer Type

Arteriosclerotic Dementia

Strategic-Infarct Dementia

Post Stroke Dementia

Vascular Cognitive Impairment

Vascular Dementia

Dementia Of The Lewy Body Type

Dementia With Lewy Bodies

Sdlt - [Senile Dementia Of The Lewy Body Type]

Senile Dementia Of The Lewy Body Type

Alcohol-Related Dementia

Alcoholic Dementia Nos

Alcohol-Induced Dementia

Alcoholic Brain Syndrome

Chronic Alcoholic Brain Syndrome

Alcohol Dementia

Late Onset Alcoholic Psychosis

Residual And Late-Onset Alcohol-Induced Psychotic Disorder

Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder

Late-Onset Psychoactive Substance-Induced Psychotic Disorder

Inhalant Dementia

Volatile Solvents Dementia

Dementia In Paralysis Agitans

Pdd - [Parkinson Disease Dementia]

Dementia Syndrome Of Parkinson Disease

Dementia In Parkinson Disease

Parkinson Related Dementia

Dementia In Huntington Chorea

Hiv - [Human Immunodeficiency Virus] Dementia

Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex

Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex

Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex

Aids Related Dementia

Dementia Due To Niacin Deficiency

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7

Ftd3

Frontotemporal Dementia, Chromosome 3-Linked

Amyotrophic Lateral Sclerosis, Chmp2b-Related

Chromosome 3-Linked Frontotemporal Dementia

FTDALS7

Chmp2b-Related Frontotemporal Dementia

Amyotrophic Lateral Sclerosis 17, Formerly

Als17, Formerly

Amyotrophic Lateral Sclerosis Type 17

Dtm1

Ftd-3

Ftd-Chmp2b

Als17

Amyotrophic Lateral Sclerosis 17

Sclerosis, Lateral, Amyotrophic, Type 17

Dementia, Frontotemporal, Chromosome 3-Linked

Prosopagnosia
Cystic Fibrosis

Mucoviscidosis

CF

Pseudomonas Aeruginosa, Susceptibility To Chronic Infection By, In Cystic Fibrosis

Pseudomonas Aeruginosa Chronic Infection By, In Cystic Fibrosis

Cystic Fibrosis Lung Disease, Modifier Of

Cystic Fibrosis Of Pancreas

Fibrocystic Disease Of Pancreas

Cf - [Cystic Fibrosis]

Cystic Fibrosis Nos

Fibrocystic Disease

Fibrocystic Disease Of The Pancreas

Mucoviscidosis Of Pancreas

Nonproliferative Fibrocystic Disease

Pancreatic Cystic Fibrosis

Myositis

Idiopathic Inflammatory Myopathy

Idiopathic Inflammatory Myositis

Iim

Imm

Idiopathic Inflammatory Myopathies

Myopathy, Familial Idiopathic Inflammatory

Inflammatory Disorder Of Muscle

Idiopathic Inflammatory Myopathy, Familial

Inflammatory Myopathy, Idiopathic

Myopathies Idiopathic Inflammatory

Familial Idiopathic Inflammatory Myopathy

Muscular Dystrophy

Muscular Dystrophies

Congenital Md

Congenital Muscular Dystrophy

Cmd

Mdc

Dystrophy, Muscular

Gower'S Muscular Dystrophy

Progressive Musclular Dystrophy

Pseudohypertrophic Atrophy

Pseudohypertrophic Muscle Paralysis

Pseudohypertrophic Muscular Atrophy

Pseudohypertrophic Muscular Dystrophy

Pseudohypertrophic Paralysis

Pseudomuscular Hypertrophy

Writing Disorder
Nominal Aphasia

Anomia

Anomic Aphasia

Tooth Disease

Tooth Diseases

Teeth Disease

Tooth Disorders

Motor Neuron Disease

Anterior Horn Cell Disease

Motor Neuron Diseases

Mnd - [Motor Neurone Disease]

Lou Gehrig Disease

Creeping Palsy

Creeping Paralysis

Bulbar Motor Neuron Disease

Bulbar Syndrome

Anterior Horn Cell Disorder

Hereditary Motor Neuron Disease

Dementia, Lewy Body

Lewy Body Dementia

Lewy Body Disease

Diffuse Lewy Body Disease

Dementia With Lewy Bodies

DLB

Autosomal Dominant Diffuse Lewy Body Disease

Cortical Lewy Body Disease

Dementia, Lewy Body, Susceptibility To

Lewy Body Dementia, Susceptibility To

Senile Dementia Of The Lewy Body Type

Dementia Of The Lewy Body Type

Lbd

Diffuse Lewy Body Disease With Gaze Palsy

Dysphasic Dementia Hereditary

Lewy Body Type Senile Dementia

Lewy Body Variant Of Alzheimer Disease

Lewy Bodies

Lewy Body

Dlbd - [Diffuse Lewy Body Disease]

Clbd - [Cortical Lewy Body Disease]

Mammary Paget'S Disease

Paget'S Disease

Mammary Paget Disease

Paget'S Disease Of The Breast

Paget Disease Of The Breast

Paget'S Disease Of The Nipple

Paget'S Disease, Mammary

Paget Cell Neoplasm

Paget Disease Of The Nipple

Pagets Disease Mammary

Osteitis Deformans

Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1

IBMPFD1

Multisystem Proteinopathy 1

Pagetoid Amyotrophic Lateral Sclerosis

Pagetoid Neuroskeletal Syndrome

Lower Motor Neuron Degeneration With Paget-Like Bone Disease

Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia

Msp1

Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone

Inclusion Body Myopathy With Early-Onset Paget Disease And Frontotemporal Dementia 1

Limb-Girdle Muscular Dystrophy With Paget Disease Of Bone

Inclusion Body Myopathy Without Early-Onset Paget Disease And Frontotemporal Dementia 1

Lateral Sclerosis

Primary Lateral Sclerosis

Adult-Onset Primary Lateral Sclerosis

Adult-Onset Pls

Motor Neuron Disease

Pls

Pls - [Primary Lateral Sclerosis]

Lateral Spinal Sclerosis

Lateral Complete Paralysis

Lateral Incomplete Paralysis

Lateral Paralysis

Cerebellar Disease

Cerebellar Diseases

Cerebellar Dysfunction

Cerebellar Abnormality

Cerebellar Disorders

Autism

Autistic Disorder

Autism Susceptibility 1

Childhood Autism

Autistic Disorder Of Childhood Onset

Infantile Autism

Kanner'S Syndrome

Autistic

Autosomal Dominant Cerebellar Ataxia

Spinocerebellar Ataxia

Adca

Pierre Marie Cerebellar Ataxia

Ataxia, Spinocerebellar

Sca

Autosomal Dominant Spinocerebellar Ataxia

Spinocerebellar Ataxias

Spinal And Bulbar Muscular Atrophy, X-Linked 1

Kennedy Disease

Sbma

Spinal And Bulbar Muscular Atrophy

Kennedy'S Disease

X-Linked Spinal And Bulbar Muscular Atrophy

SMAX1

Kd

Kennedy Spinal And Bulbar Muscular Atrophy

Spinobulbar Muscular Atrophy

Bulbospinal Muscular Atrophy, X-Linked

Bulbospinal Neuronopathy, X-Linked Recessive

Xbsn

Spinal And Bulbar Muscular Atrophy Of Kennedy

Bulbospinal Muscular Atrophy

X-Linked Bulbospinal Amyotrophy

Bulbo-Spinal Atrophy, X-Linked

Spinal Bulbar Muscular Atrophy

X-Linked Bulbo-Spinal Atrophy

X-Linked Spinal Bulbar Muscular Atrophy

X-Linked Bsma

X-Linked Bulbospinal Muscular Atrophy

Spinal And Bulbar Muscular Atrophy X-Linked 1

Bulbospinal Muscular Atrophy X-Linked

Bulbospinal Neuronopathy X-Linked Recessive

Kennedy Disease)

Kennedy Syndrome

Atrophy, Muscular, Spinal And Bulbar, Kennedy Type

Atrophy, Muscular, Spinobulbar

Bulbospinal Neuronopathy

Machado-Joseph Disease

SCA3

MJD

Spinocerebellar Ataxia 3

Azorean Disease

Spinocerebellar Ataxia Type 3

Azorean Neurologic Disease

Spinopontine Atrophy

Nigrospinodentatal Degeneration

Spinocerebellar Atrophy

Spinocerebellar Atrophy Iii

Spinocerebellar Atrophy Type 3

Azorean Ataxia

Azorean Disease Of The Nervous System

Machado Disease

Nigro-Spino-Dentatal Degeneration With Nuclear Ophthalmoplegia

Disease, Machado-Joseph

Ataxia, Spinocerebellar

Alzheimer Disease 7

Ad7

Alzheimer'S Disease 7

Alzheimer Disease, Familial, 7

Alzheimer Disease-7

Alzheimer Disease, Familial 7

Associative Agnosia
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

Neuronal Ceroid Lipofuscinosis

Hereditary Ceroid Lipofuscinosis

Batten Disease

Ncl

Neuronal Ceroid-Lipofuscinoses

Lipofuscinosis, Ceroid, Neuronal

Juvenile Neuronal Ceroid Lipofuscinosis

Cerebromacular Dystrophy

Cerebromacular Degeneration

Ceroid-Lipofuscinosis

Ncl - [Neuronal Ceroid Lipofuscinosis]

Amaurotic Familial Idiocy

Amaurotic Idiocy

Amaurotic Idiot

Neuronal Lipofuscinosis

Pigmentary Retinal Lipoid Neuronal Heredodegeneration

Cortical Deafness
Agraphia
Hereditary Spastic Paraplegia

Familial Spastic Paraplegia

Hereditary Spastic Paraparesis

Strumpell-Lorrain Disease

Hsp

Spg

Strümpell-Lorrain Disease

Spastic Paraplegia, Hereditary

French Settlement Disease

Strumpell-Lorrain Syndrome

Fsp

Familial Spastic Paraparesis

Spastic Paraplegia, Familial

Spastic Paraplegia Hereditary

Spastic Paraplegia 3, Autosomal Dominant

Spastic Paraparesis

Hereditary Spastic Paralysis

Familial Spastic Paralysis

Hereditary Spastic Ataxia

Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6

FTDALS6

Amyotrophic Lateral Sclerosis 14 With Or Without Frontotemporal Dementia, Formerly

Als14, Formerly

Als14

Amyotrophic Lateral Sclerosis 14, With Or Without Frontotemporal Dementia

Sclerosis, Lateral, Amyotrophic, Type 14, With/Without Frontotemporal Dementia

Amyotrophic Lateral Sclerosis Type 14

Als14

Amyotrophic Lateral Sclerosis 14

Amyotrophic Lateral Sclerosis, With Or Without Frontotemporal Dementia

Amyotrophic Lateral Sclerosis 14 With Or Without Frontotemporal Dementia

Myopathy

Muscular Diseases

Myopathies

Spastic Paraplegia-Paget Disease Of Bone Syndrome
Primary Biliary Cholangitis

Primary Biliary Cirrhosis

Biliary Liver Cirrhosis

Chronic Nonsuppurative Destructive Cholangitis

Familial Primary Biliary Cirrhosis

Pbc

Hanot Syndrome

Cholestatic Cirrhosis

Biliary Cirrhosis Primary

Liver Cirrhosis, Biliary

Hanot'S Cirrhosis

Biliary Cirrhosis

Pericholangiolic Biliary Cirrhosis

Tannhauser-Magendantz Syndrome

Hanot-Rossle Syndrome

Hypertrophic Cirrhosis

Todd Cirrhosis

Hanot Cirrhosis

Charcot Cirrhosis

Mahon-Tannhauser Syndrome

Toxic Cirrhosis

Hypertrophic Biliary Cirrhosis

Monolobular Cirrhosis

Unilobar Cirrhosis

Xanthomatous Biliary Cirrhosis

Frontotemporal Dementia

Pallidopontonigral Degeneration

Frontotemporal Lobar Degeneration

Semantic Dementia

FTD

Frontotemporal Lobe Dementia

Multiple System Tauopathy With Presenile Dementia

Dementia, Frontotemporal

Frontotemporal Dementia With Parkinsonism

Mstd

Frontotemporal Lobar Degeneration With Tau Inclusions

Ftld With Tau Inclusions

Dementia, Frontotemporal, With Parkinsonism

Fldem

Ftdp17

Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex

Ddpac

Wilhelmsen-Lynch Disease

Wld

Ppnd

Dementia, Frontotemporal, With Or Without Parkinsonism

Semantic Primary Progressive Aphasia

Semantic Variant Ppa

Wilhemsen-Lynch Disease

Frontotemporal Dementia-Amyotrophic Lateral Sclerosis

Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17

Ftd-Als

Ftld

Pick Complex

Pick Disease Of The Brain

Frontotemporal Dementia With Parkinsonism-17

Grn-Related Frontotemporal Dementia

Frontotemporal Dementia With Motor Neuron Disease

Dementia In Fronto-Temporal Lobar Degeneration

Ftd - [Frontotemporal Dementia]

Temple Dementia

Frontal Lobe Dementia

Progressive Non-Fluent Aphasia

Non-Fluent Variant Ppa

Non-Fluent Primary Progressive Aphasia

Agramatic Variant Of Ppa

Agramatic Variant Of Primary Progressive Aphasia

Progressive Nonfluent Aphasia

Primary Progressive Non Fluent Aphasia

Primary Progressive Nonfluent Aphasia

Progressive Muscular Atrophy

Progressive Spinal Muscular Atrophy

Pure Progressive Muscular Atrophy

Pma

Hereditary Spinal Muscle Atrophy

Pma - [Progressive Muscular Atrophy]

Progressive Muscle Atrophy

Progressive Spinal Muscle Atrophy

Duchenne-Aran Atrophy

Duchenne-Aran Muscle Atrophy

Hereditary Sma - [Spinal Muscle Atrophy]

Alzheimer Disease, Familial, 1

Alzheimer Disease

Alzheimer'S Disease

Presenile And Senile Dementia

AD1

Alzheimer Disease, Susceptibility To

Alzheimer Disease, Late-Onset, Susceptibility To

Alzheimer Disease 1, Familial

AD

Familial Alzheimer Disease

Alzheimer Disease, Late-Onset

Alzheimers Dementia

Alzheimer Dementia

Alzheimer Sclerosis

Alzheimer Syndrome

Alzheimer-Type Dementia

Dat

Primary Senile Degenerative Dementia

Sdat

Alzheimer Disease 1

Autosomal Dominant Alzheimer Disease

Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

Late Onset Alzheimer Disease

Alzheimers Disease

Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

Late-Onset Alzheimers Disease

Alzheimer'S Disease Pathway Kegg

Dementia Due To Alzheimer'S Disease

Alzheimer Disease Type 1

Alzheimers

Muscular Disease
Nonaka Myopathy

Gne Myopathy

Hibm

Distal Myopathy With Rimmed Vacuoles

Hereditary Inclusion Body Myopathy

Ibm2

Inclusion Body Myopathy, Quadriceps-Sparing

Qsm

Dmrv

Distal Myopathy, Nonaka Type

Inclusion Body Myopathy 2

Inclusion Body Myopathy, Autosomal Recessive

NM

Nonaka Distal Myopathy

Myopathy, Distal, With Or Without Rimmed Vacuoles

Inclusion Body Myopathy, Hereditary, Autosomal Recessive

Inclusion Body Myopathy Type 2

Quadriceps-Sparing Myopathy

Quadriceps Sparing Myopathy

Rimmed Vacuole Myopathy

Inclusion Body Myopathy 2, Autosomal Recessive, Formerly

Ibm2, Formerly

Hibm2

Hereditary Inclusion Body Myopathy Type 2

Inclusion Body Myopathy 2, Autosomal Recessive

Myopathy, Distal, With Rimmed Vacuoles

Inclusion Body Myopathy Autosomal Recessive

Myopathy, Inclusion Body, Type 2

Myopathy, Nonaka

Amyotrophic Lateral Sclerosis Type 6

Amyotrophic Lateral Sclerosis 6, Autosomal Recessive

Als6

Amyotrophic Lateral Sclerosis 6, With Or Without Frontotemporal Dementia

Autosomal Recessive Amyotrophic Lateral Sclerosis 6

Sclerosis, Lateral, Amyotrophic, Type Type 6

Amyotrophic Lateral Sclerosis 6

Spinocerebellar Ataxia 2

Spinocerebellar Ataxia Type 2

SCA2

Amyotrophic Lateral Sclerosis 13

Spinocerebellar Degeneration With Slow Eye Movements

SDSEM

Spinocerebellar Atrophy Ii

Olivopontocerebellar Atrophy Ii

Opca2

Cerebellar Degeneration With Slow Eye Movements

Wadia-Swami Syndrome

Amyotrophic Lateral Sclerosis Type 13

ALS13

Olivopontocerebellar Atrophy Holguin Type

Spinocerebellar Ataxia Cuban Type

Olivopontocerebellar Atrophy, Holguin Type

Spinocerebellar Ataxia, Cuban Type

Amyotrophic Lateral Sclerosis, Susceptibility To, 13

Olivopontocerebellar Atrophy 2

Sca 2

Spinocerebellar Ataxia With Slow Eye Movements

Spinocerebellar Atrophy 2

Wadia Swami Syndrome

Opca Ii

Spinocerebellar Ataxia-2

Ataxia, Spinocerebellar, Type 2

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

Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3

Spondylocheirodysplasia, Ehlers-Danlos Syndrome-Like

Scd-Eds

EDSSPD3

Ehlers-Danlos Syndrome Spondylodysplastic Type 3

Ehlers-Danlos Syndrome, Spondylocheirodysplastic Type

Slc39a13-Related Spondylodysplastic Ehlers-Danlos Syndrome

Slc39a13-Related Speds

Slc39a13-Related Spondylodysplastic Eds

Spondylocheirodysplastic Ehlers-Danlos Syndrome

Speds-Slc39a13

Ehlers-Danlos Syndrome-Like Spondylocheirodysplasia

Ehlers-Danlos Syndrome, Spondylodysplastic, Type 3

Neuromuscular Disease

Neuromuscular Diseases

Neuromuscular Disorders

Neuromuscular Disorder

Breast Adenocarcinoma

Mammary Adenocarcinoma

Adenocarcinoma Of Breast

Adult-Onset Distal Myopathy Due To Vcp Mutation
Familial Expansile Osteolysis

FEO

Mccabe Disease

Osteolysis, Familial Expansile

Polyostotic Osteolytic Dysplasia, Hereditary Expansile

Hepod

Expansile Osteolysis, Familial

Eof

Hereditary Expansile Polyostotic Osteolytic Dysplasia

Pick Disease Of Brain

Pick Disease

Pick Disease Of The Brain

Lobar Atrophy Of Brain

Dementia With Lobar Atrophy And Neuronal Cytoplasmic Inclusions

Pick'S Disease

Behavioral Variant Of Frontotemporal Dementia

Dementia In Pick'S Disease

Lobar Atrophy Of The Brain

Bvftd

Bv-Ftd

PIDB

Picks Disease

Paget'S Disease Of Bone

Osteitis Deformans

Paget Disease Of Bone

Osseous Paget'S Disease

Paget Disease Of Bone, Familial

Bone Paget Disease

Familial Paget'S Disease Of Bone

Paget'S Bone Disease

Familial Paget Disease Of Bone

Paget Disease, Bone

Pdb

Pagets Bone Disease

Speech And Communication Disorders

Language Disorder

Communication Disorder

Language Disorders

Communication Disorders

Speech Language Disorder

Speech-Language Disorder

Communication Impairment

Speech And Language Disorder

Multisystem Proteinopathy
Perry Syndrome

Parkinsonism With Alveolar Hypoventilation And Mental Depression

PERRYS

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
Felis catus VCP VGNC VGNC:66933
Rattus norvegicus VCP RGD RGD:621595
Canis familiaris VCP VGNC VGNC:48243
Mus musculus VCP MGD MGI:99919
Bos taurus VCP VGNC VGNC:36780
Macaca mulatta VCP VGNC VGNC:78762
Others VCP NCBI