2. Gene
  3. VMA21 - vacuolar ATPase assembly factor VMA21 Gene

VMA21 - vacuolar ATPase assembly factor VMA21 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：液泡 ATP 酶组装因子 VMA21

种属: Homo sapiens

同用名: MEAX; XMEA

基因 ID: 203547 | 基因类型: protein coding

关于 VMA21

Cytogenetic location: Xq28 Genomic coordinates (GRCh38): X:151,396,595-151,409,364 (from NCBI)

This gene has 3 transcripts (splice variants), 211 orthologues and is associated with 2 phenotypes. Ubiquitous expression in brain (RPKM 10.4), thyroid (RPKM 7.4) and 25 other tissues.

功能概要

该基因编码用于组装溶酶体液泡 ATP 酶的伴侣。[RefSeq 提供，2012 年 7 月]

This gene encodes a chaperone for assembly of lysosomal vacuolar ATPase.[provided by RefSeq, Jul 2012]

VMA21 基因产物(2)

mRNA Protein Name
NM_001017980.4 NP_001017980.1 vacuolar ATPase assembly integral membrane protein VMA21 isoform 1
NM_001363810.1 NP_001350739.1 vacuolar ATPase assembly integral membrane protein VMA21 isoform 2
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
29127204 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

VMA21 蛋白结构

VMA21

VMA21: VMA21-like domain (24 - 88)

  • 0
  • 101 a.a.
蛋白主名 其他名称

vacuolar ATPase assembly integral membrane protein VMA21

VMA21 vacuolar H+-ATPase homolog

VMA21 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
种属内
VMA21 Q3ZAQ7 RTP2 Homo sapiens Q5QGT7
Validated Y2H
32296183
种属内
VMA21 Q3ZAQ7 NIPAL3 Homo sapiens Q6P499
Validated Y2H
32296183
种属内
VMA21 Q3ZAQ7 SLC25A46 Homo sapiens Q96AG3
Validated Y2H
32296183
种属内
VMA21 Q3ZAQ7 NINJ2 Homo sapiens Q9NZG7
Validated Y2H
32296183
种属内
VMA21 Q3ZAQ7 ORMDL1 Homo sapiens Q9P0S3
Validated Y2H
32296183
种属内
VMA21 Q3ZAQ7 ATP13A1 Homo sapiens Q9HD20-3
Validated Y2H
32296183
种属内
VMA21 Q3ZAQ7 DAGLA Homo sapiens Q9Y4D2
Y2H Prey Pooling
32296183
种属内
VMA21 Q3ZAQ7 DAGLA Homo sapiens Q9Y4D2
Y2H Array
32296183
种属内
VMA21 Q3ZAQ7 DAGLA Homo sapiens Q9Y4D2
Validated Y2H
32296183
种属内
VMA21 Q3ZAQ7 CLEC12B Homo sapiens Q2HXU8-2
Y2H Prey Pooling
32296183
种属内
VMA21 Q3ZAQ7 CLEC12B Homo sapiens Q2HXU8-2
Y2H Array
32296183
种属内
VMA21 Q3ZAQ7 TMEM107 Homo sapiens Q6UX40
Validated Y2H
32296183
种属内
VMA21 Q3ZAQ7 SLC35E4 Homo sapiens Q6ICL7
Validated Y2H
32296183
种属内
VMA21 Q3ZAQ7 AQP6 Homo sapiens Q13520
Y2H Prey Pooling
32296183
种属内
VMA21 Q3ZAQ7 AQP6 Homo sapiens Q13520
Y2H Array
32296183
种属内
VMA21 Q3ZAQ7 LHFPL5 Homo sapiens Q8TAF8
Validated Y2H
32296183
种属内
VMA21 Q3ZAQ7 TMEM60 Homo sapiens Q9H2L4
Validated Y2H
32296183
种属内
VMA21 Q3ZAQ7 TECR Homo sapiens Q9NZ01
Validated Y2H
32296183
种属内
VMA21 Q3ZAQ7 THSD7A Homo sapiens Q9UPZ6
Validated Y2H
32296183
种属内
VMA21 Q3ZAQ7 ATP6V0B Homo sapiens Q99437
Validated Y2H
32296183
种属内
VMA21 Q3ZAQ7 PLLP Homo sapiens Q9Y342
Validated Y2H
32296183
种属内
VMA21 Q3ZAQ7 YIPF1 Homo sapiens Q9Y548
Validated Y2H
32296183
种属内
VMA21 Q3ZAQ7 INSIG2 Homo sapiens Q9Y5U4
Validated Y2H
32296183
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, X-Linked, With Excessive Autophagy

X-Linked Myopathy With Excessive Autophagy

Xmea

MEAX

Vacuolar Myopathy
Danon Disease

Pseudoglycogenosis Ii

Antopol Disease

Glycogen Storage Disease Iib

Glycogen Storage Disease Type 2b

Glycogen Storage Disease Type Iib

Gsd2b

Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency

Vacuolar Cardiomyopathy And Myopathy X-Linked

Vacuolar Cardiomyopathy And Myopathy, X-Linked

Lysosomal Glycogen Storage Disease Without Acid Maltase Deficiency, Formerly

Gsd2b, Formerly

Gsd Iib, Formerly

Glycogen Storage Cardiomyopathy

Glycogen Storage Disease Limited To The Heart

Pseudoglycogenosis 2

X-Linked Vacuolar Cardiomyopathy And Myopathy

Lysosomal Glycogen Storage Disease With Normal Acid Maltase

Glycogen Storage Disease Due To Lamp-2 Deficiency

Gsd Due To Lamp-2 Deficiency

Glycogenosis Due To Lamp-2 Deficiency

Lysosomal Glycogen Storage Disease With Normal Acid Maltase Activity

DAND

Gsd-Iib
Myopathy

Muscular Diseases

Myopathies
Vici Syndrome

Absent Corpus Callosum Cataract Immunodeficiency

VICIS

Immunodeficiency With Cleft Lip/Palate, Cataract, Hypopigmentation, And Absent Corpus Callosum

Dionisi Vici Sabetta Gambarara Syndrome

Immunodeficiency With Cleft Lip/Palate, Cataract, Hypopigmentation And Absent Corpus Callosum

Corpus Callosum Agenesis-Cataract-Immunodeficiency Syndrome

Dionisi-Vici-Sabetta-Gambarara Syndrome

Immunodeficiency With Cleft Lip/Palate Cataract Hypopigmentation And Absent Corpus Callosum
Alcohol-Related Neurodevelopmental Disorder

Static Encephalopathy

Arnd

Encephalopathy, Static

Alcohol Related Neurodevelopmental Disorder
Hypophosphatasia, Infantile

Infantile Hypophosphatasia

HPPI

Hops

Phosphoethanolaminuria

Perinatal Lethal Hypophosphatasia

Perinatal Lethal Rathbun Disease

Perinatal Lethal Phosphoethanolaminuria

Infantile Rathbun Disease

Infantile Phosphoethanolaminuria

Hypophosphatasia, Perinatal Lethal
Neurodegeneration With Brain Iron Accumulation 5

NBIA5

Beta-Propeller Protein-Associated Neurodegeneration

Bpan

Static Encephalopathy Of Childhood With Neurodegeneration In Adulthood

Senda

Neurodegeneration With Brain Iron Accumulation Type 5

Neurodegeneration With Brain Iron Accululation 5

Static Encephalopathy Of Childhood With Neurdegeneration In Adulthood

Neurodegeneration, With Brain Iron Accululation, Type 5
Centronuclear Myopathy

Myopathy, Centronuclear

Myotubular Myopathy

Cnm

Myopathy, Myotubular

Congenital Structural Myopathy
Warburg Micro Syndrome 1

Warburg Micro Syndrome

Micro Syndrome

Warbm

WARBM1

Warburg Sjo Fledelius Syndrome

Warburg-Sjo-Fledelius Syndrome

Micro Syndrome 1

Microcephaly, Microcornea, Congenital Cataract, Intellectual Disability, Optic Atrophy And Hypogenitalism
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS15662 VMA21 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Rattus norvegicus VMA21 RGD RGD:1566155
Canis familiaris VMA21 VGNC VGNC:48270
Mus musculus VMA21 MGD MGI:1914298
Bos taurus VMA21 VGNC VGNC:36804
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