Vma21 MGI Mouse Gene Detail - MGI:1914298 - VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)

Symbol

Vma21
Name

VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)
Synonyms

2610030H06Rik

Feature Type

protein coding gene
IDs

MGI:1914298
NCBI Gene: 67048
Alliance

gene page
Transcription Start Sites

8 TSS

Sequence Map

ChrX:70856368-70868312 bp, + strand
From NCBI annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome X, 37.07 cM, cytoband C2
Mapping Data

3 experiments

SNPs within 2kb

266 from dbSNP Build 142
Strain Annotations

17

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_1914298	protein coding gene	ChrX:70856368-70883363 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0035785	protein coding gene	ChrX:67488219-67514382 (+)
A/J	MGP_AJ_G0035769	protein coding gene	ChrX:67728704-67757493 (+)
AKR/J	MGP_AKRJ_G0035691	protein coding gene	ChrX:69543793-69569959 (+)
BALB/cJ	MGP_BALBcJ_G0035756	protein coding gene	ChrX:66785777-66809566 (+)
C3H/HeJ	MGP_C3HHeJ_G0035459	protein coding gene	ChrX:68002966-68028778 (+)
C57BL/6NJ	no annotation
CAROLI/EiJ	MGP_CAROLIEiJ_G0033133	protein coding gene	ChrX:66960820-66984083 (+)
CAST/EiJ	MGP_CASTEiJ_G0034751	protein coding gene	ChrX:53393236-53420114 (+)
CBA/J	MGP_CBAJ_G0035434	protein coding gene	ChrX:71488536-71514356 (+)
DBA/2J	MGP_DBA2J_G0035587	protein coding gene	ChrX:67206271-67234286 (+)
FVB/NJ	MGP_FVBNJ_G0035538	protein coding gene	ChrX:66568215-66590723 (+)
LP/J	MGP_LPJ_G0035676	protein coding gene	ChrX:68360737-68391817 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0035573	protein coding gene	ChrX:74030418-74057489 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0036307	protein coding gene	ChrX:67342851-67366996 (+)
PWK/PhJ	MGP_PWKPhJ_G0034451	protein coding gene	ChrX:51410206-51434027 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0034286	protein coding gene	ChrX:54308920-54332488 (+)
WSB/EiJ	MGP_WSBEiJ_G0034893	protein coding gene	ChrX:66667185-66697468 (+)

Human Ortholog

VMA21, vacuolar ATPase assembly factor VMA21

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

VMA21, vacuolar ATPase assembly factor VMA21
Synonyms

MEAX, XMEA
Links

HGNC:22082

NCBI Gene ID: 203547

UniProt: Q3ZAQ7
Chr Location

Xq28; chrX:151396515-151409364 (+) GRCh38

MGI Vertebrate Homology

Vma21 stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: VMA21
Gene Tree

Vma21

Diseases

1 with human VMA21 associations

				Human Disease	Mouse Models
				X-linked myopathy with excessive autophagy IDs X-linked myopathy with excessive autophagy DOID:0050760 OMIM:310440

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

1 phenotype reference

All Mutations and Alleles

1
Endonuclease-mediated

1
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

1 strains or lines available

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All GO Annotations

16
GO References

7

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

877
Tissues

12
cDNA Data

16
Literature Summary

1

Images

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas

less

All Sequences

63
RefSeq

8
UniProt

3
CCDS

CCDS41000.1, CCDS72388.1, CCDS72389.1

Ensembl

ENSMUSG00000073131 (Evidence)
NCBI Gene

67048

			Length	Strain/Species	Flank
genomic	67048	NCBI Gene Model \| MGI Sequence Detail	11945	C57BL/6J	± kb
transcript	NM_001290781	RefSeq \| MGI Sequence Detail	4496	C57BL/6
polypeptide	Q78T54	UniProt \| EBI \| MGI Sequence Detail	101	Not Applicable

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UniProt

3 Sequences
Protein Ontology

PR:000030224 vacuolar ATPase assembly integral membrane protein VMA21

(term hierarchy)
InterPro Domains

IPR019013 Vacuolar ATPase assembly integral membrane protein Vma21

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All nucleic 20

cDNA 16

Primer pair 4

Microarray probesets 10

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MGI:2147916

Summaries

All 30

Developmental Gene Expression 1

Gene Ontology 7

Phenotypes 1
Earliest

J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
Latest

J:343515 Cocchiararo I, et al., Identification of a muscle-specific isoform of VMA21 as a potent actor in X-linked myopathy with excessive autophagy pathogenesis. Hum Mol Genet. 2023 Dec 1;32(24):3374-3389

TSS for Vma21:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr161174	ChrX:70856380-70856401 (+)	23 bp
Tssr161175	ChrX:70856406-70856413 (+)	42 bp
Tssr161176	ChrX:70856416-70856427 (+)	54 bp
Tssr161177	ChrX:70859726-70859735 (+)	3,363 bp
Tssr161178	ChrX:70859840-70859895 (+)	3,500 bp
Tssr161179	ChrX:70860357-70860366 (+)	3,994 bp
Tssr161180	ChrX:70860378-70860419 (+)	4,031 bp
Tssr161181	ChrX:70860440-70860449 (+)	4,077 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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