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

VMA21 - vacuolar ATPase assembly factor VMA21 Gene

Homo sapiens

Also known as MEAX; XMEA

Gene ID: 203547 | Gene type: protein coding

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 Reference 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 Reference
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

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