MDRV Locus
genetic locus GIFtS: 12
GCID: GC19U990062
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Muscular Dystrophy, With Rimmed Vacuoles
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Aliases
for MDRV gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
10fRNAdb,
12H-InvDB,
13NCBI,
14NONCODE,
and/or 15RNAdb)
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| Aliases |
|---|
| Muscular Dystrophy, With Rimmed Vacuoles1 2 | | NIPA22 |
Export aliases for MDRV gene to outside databases |
Summaries
for MDRV gene(According to Entrez Gene,
GeneCards,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
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GeneCards Summary for MDRV Gene:
MDRV (muscular dystrophy, with rimmed vacuoles) is a genetic locus. Diseases associated with MDRV include muscular dystrophy with rimmed vacuoles.
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Genomic Views
for MDRV gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 75),
Regulatory elements and Epigenetics data according to
QIAGEN, and/or
SwitchGear Genomics)
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TryGeneCards Plus | Regulatory elements:
 Search for regulatory transcription factor binding sites for MDRV
Other transcription factors
Search Chromatin IP Primers for MDRV
Epigenetics:
| | DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MDRV |
Genomic Location:
Chromosome:19
Entrez Gene cytogenetic band: 19p13.3 HGNC cytogenetic band: 19p13.3GeneLoc information about chromosome 19 |
Proteins
for MDRV gene
(According to
1UniProtKB,
HORDE,
2neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to PhosphoSitePlus,
Specific Peptides from DME,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Cloud-Clone Corp.,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Cloud-Clone Corp.,
Antibodies by
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
LSBio,
Abcam, and/or
Cloud-Clone Corp.)
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UniProtKB: --
|
Domains /
Families
for MDRV gene(According to HGNC, IUPHAR, InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
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Function
for MDRV gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
genOway,
transcription factor targeting from QIAGEN
and/or HOMER,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
SwitchGear Genomics,
Gene Editing from DNA2.0,
Clones from OriGene,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
ESI BIO,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Apr 2014 via
Entrez Gene.)
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Animal Models:
Inhib. RNA
Products: |  | Browse OriGene RNAi
| | | Predesigned siRNA for gene silencing in human, mouse, rat MDRV |
Cell Line
Products: |  | GenScript Custom overexpressing Cell Line Services for MDRV | |  | Browse ESI BIO Cell Lines and PureStem Progenitors for MDRV  | In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MDRV |
Localization
for MDRV gene
(According to UniProtKB, COMPARTMENTS Subcellular localization database,
Ontologies according to Gene Ontology Consortium 01 Apr 2014 via
Entrez Gene.)
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Pathways & Interactions
for MDRV gene
(SuperPaths according to PathCards,
Pathways according to
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Sino Biological,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
QIAGEN,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Apr 2014 via
Entrez Gene).
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Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MDRV
Interactions:
Search GeneGlobe Interaction Network for MDRV
|
Drugs & Compounds
for MDRV gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience,
ApexBio,
HMDB,
BitterDB, and/or
Novoseek,
Ligands according to IUPHAR,
and Drugs according to DrugBank,
Enzo Life Sciences, and/or
PharmGKB)
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 Browse compounds at ApexBio
 Browse Tocris compounds for MDRV
|
Transcripts
for MDRV gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
Conferences by KenesGroup,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
SwitchGear Genomics,
Tagged/untagged cDNA clones from
OriGene,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene, and/or
QIAGEN
)
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Inhib. RNA
Products: | | Browse OriGene RNAi
| |
| | Predesigned siRNA for gene silencing in human, mouse, rat MDRV |
|
Expression
for MDRV gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
Protein expression images according to data from SPIRE 1MOPED,
2PaxDb, and 3MaxQB,
plus additional links to
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
QIAGEN,
Primers from
OriGene, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
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See probesets specificity/sensitivity at GeneAnnot
CGAP TAG: --
MDRV Protein expression data from MOPED1, PaxDb2 and
MaxQB3:  --
Custom PCR Arrays for MDRV
Primer
Products: | | Browse OriGene qPCR
| | | Search Pre-validated RT2 qPCR
Primer Assays in human, mouse, rat MDRV | | | QuantiTect SYBR Green Assays in human, mouse, rat MDRV | | | QuantiFast Probe-based Assays in human, mouse, rat MDRV | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MDRV |
Orthologs
for MDRV gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
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--
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Paralogs
for MDRV gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Genomic Variants
for MDRV gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
4UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD), the Human Cytochrome P450 Allele
Nomenclature Database, and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
About This Section
TryGeneCards Plus | | | Site Specific Mutation Identification with PCR Assays |
|
Disorders
/ Diseases
for MDRV gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Conferences by KenesGroup,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
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OMIM gene information: 601846
OMIM disorders: --
1  disease for MDRV:
About MalaCardsmuscular dystrophy with rimmed vacuoles
MDRV for disorders About GeneDecksing
Export disorders for MDRV gene to outside databases
|
Publications
for MDRV gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
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PubMed article for MDRV gene integrated from 10 sources:
(articles sorted by number of sources associating them with MDRV) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Fine mapping of a distinctive autosomal dominant vacuolar neuromyopathy using 11 novel microsatellite markers from chromosome band 19p13.3. (PubMed id 11039585)1 Sangiuolo F....Novelli G. (Eur. J. Hum. Genet. 2000)
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External Searches for MDRV gene (in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing MDRV gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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|
Other Databases showing MDRV gene
(According to HUGE)
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Specialized Databases showing MDRV gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for MDRV | Pharmacogenomics, SNPs, Pathways |
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TryGeneCards Plus | Patent Information for MDRV gene:
Search GeneIP for patents involving MDRV
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Products
for MDRV gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or
ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory,
genOway)
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|  | Block miRNA regulation of human, mouse, rat MDRV using miScript Target Protectors | | SeqTarget long-range PCR primers for resequencing MDRV | | | DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MDRV | | Predesigned siRNA for gene silencing in human, mouse, rat MDRV | | | QuantiFast Probe-based Assays in human, mouse, rat MDRV | | QuantiTect SYBR Green Assays in human, mouse, rat MDRV | | | Custom PCR Arrays for MDRV | | Search Chromatin IP Primers for MDRV | | | Search Pre-validated RT2 qPCR Primer Assays in human, mouse, rat MDRV | | Search GeneGlobe Interaction Network for MDRV | | | Search Regulatory tfbs for MDRV |
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| | | Search Tocris compounds for MDRV |
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 |  | | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MDRV |
| |  |  |  |  | | | Search ThermoFisher Antibodies for MDRV |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat MDRV |
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