VMA21 - vacuolar ATPase assembly factor VMA21 Gene

Also Known as MEAX; XMEA

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 203547

About 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.

Summary

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

VMA21 Products (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

Gene Ontology

  • Molecular Function
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
29127204 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

VMA21 Protein Structure

VMA21

VMA21: VMA21-like domain (24 - 88)

  • 0
  • 101 a.a.
Protein Preferred Names Protein Names

vacuolar ATPase assembly integral membrane protein VMA21

  • VMA21 vacuolar H+-ATPase homolog

VMA21 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
VMA21 Q3ZAQ7 RTP2 Homo sapiens Q5QGT7
Validated Y2H
32296183
Intra
VMA21 Q3ZAQ7 NIPAL3 Homo sapiens Q6P499
Validated Y2H
32296183
Intra
VMA21 Q3ZAQ7 SLC25A46 Homo sapiens Q96AG3
Validated Y2H
32296183
Intra
VMA21 Q3ZAQ7 NINJ2 Homo sapiens Q9NZG7
Validated Y2H
32296183
Intra
VMA21 Q3ZAQ7 ORMDL1 Homo sapiens Q9P0S3
Validated Y2H
32296183
Intra
VMA21 Q3ZAQ7 ATP13A1 Homo sapiens Q9HD20-3
Validated Y2H
32296183
Intra
VMA21 Q3ZAQ7 DAGLA Homo sapiens Q9Y4D2
Y2H Prey Pooling
32296183
Intra
VMA21 Q3ZAQ7 DAGLA Homo sapiens Q9Y4D2
Y2H Array
32296183
Intra
VMA21 Q3ZAQ7 DAGLA Homo sapiens Q9Y4D2
Validated Y2H
32296183
Intra
VMA21 Q3ZAQ7 CLEC12B Homo sapiens Q2HXU8-2
Y2H Prey Pooling
32296183
Intra
VMA21 Q3ZAQ7 CLEC12B Homo sapiens Q2HXU8-2
Y2H Array
32296183
Intra
VMA21 Q3ZAQ7 TMEM107 Homo sapiens Q6UX40
Validated Y2H
32296183
Intra
VMA21 Q3ZAQ7 SLC35E4 Homo sapiens Q6ICL7
Validated Y2H
32296183
Intra
VMA21 Q3ZAQ7 AQP6 Homo sapiens Q13520
Y2H Prey Pooling
32296183
Intra
VMA21 Q3ZAQ7 AQP6 Homo sapiens Q13520
Y2H Array
32296183
Intra
VMA21 Q3ZAQ7 LHFPL5 Homo sapiens Q8TAF8
Validated Y2H
32296183
Intra
VMA21 Q3ZAQ7 TMEM60 Homo sapiens Q9H2L4
Validated Y2H
32296183
Intra
VMA21 Q3ZAQ7 TECR Homo sapiens Q9NZ01
Validated Y2H
32296183
Intra
VMA21 Q3ZAQ7 THSD7A Homo sapiens Q9UPZ6
Validated Y2H
32296183
Intra
VMA21 Q3ZAQ7 ATP6V0B Homo sapiens Q99437
Validated Y2H
32296183
Intra
VMA21 Q3ZAQ7 PLLP Homo sapiens Q9Y342
Validated Y2H
32296183
Intra
VMA21 Q3ZAQ7 YIPF1 Homo sapiens Q9Y548
Validated Y2H
32296183
Intra
VMA21 Q3ZAQ7 INSIG2 Homo sapiens Q9Y5U4
Validated Y2H
32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
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
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS15662 VMA21 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source 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
Others VMA21 NCBI