MDRV Locus genetic locus GIFtS : 12 GCID: GC19 U990062
Muscular Dystrophy, With Rimmed Vacuoles
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Aliasesfor MDRV gene
(According to
1 HGNC ,
2 Entrez Gene ,
3 UniProtKB/Swiss-Prot ,
4 UniProtKB/TrEMBL , 5 OMIM , 6 GeneLoc ,
7 Ensembl ,
8 DME ,
9 miRBase ,
10 fRNAdb ,
12 H-InvDB ,
13 NCBI ,
14 NONCODE ,
and/or 15 RNAdb )About This Section
Aliases Muscular Dystrophy, With Rimmed Vacuoles 1 2 NIPA22
Export aliases for MDRV gene to outside databases
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Summariesfor MDRV gene (According to Entrez Gene ,
GeneCards ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section
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 Viewsfor MDRV gene
(According to
GeneLoc and/or
HGNC , and/or
Entrez Gene (NCBI build 37) ,miRBase ,UCSC (hg19) and
Ensembl (release 75) ,
Regulatory elements and Epigenetics data according to
QIAGEN , and/or
SwitchGear Genomics )About This Section
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
Genomic Location: Chromosome: 19 Entrez Gene cytogenetic band: 19p13.3 HGNC cytogenetic band: 19p13.3 GeneLoc information about chromosome 19
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Proteinsfor MDRV gene
(According to
1 UniProtKB ,
HORDE ,
2 neXtProt ,
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 ,
Cloud-Clone Corp. ,
eBioscience ,
antibodies-online , and/or
GeneTex ,
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences ,
Cloud-Clone Corp. ,
eBioscience , and/or
antibodies-online ,
Antibodies by
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam ,
Cloud-Clone Corp ,
antibodies-online ,
and/or others.)
About This Section
UniProtKB: --
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Domains /for MDRV gene (According to HGNC , IUPHAR , InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GenesLikeMe )
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Functionfor MDRV gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
genOway ,
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 ,
Vector BioLabs
and/or Addgene ,
Cell Lines from GenScript ,
ESI BIO ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Flow cytometry from eBioscience ,
Ontologies according to Gene Ontology Consortium 01 Apr 2014 via
Entrez Gene ,
Sets of similar genes according to GenesLikeMe )
About This Section
Animal Models: Inhib. RNA Browse OriGene RNAi Predesigned siRNA for gene silencing in human mouse rat
Cell Line GenScript Custom overexpressing Cell Line Services for MDRV Browse ESI BIO Cell Lines and PureStem Progenitors for MDRV In Situ AssayAdvanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MDRV
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Localizationfor MDRV gene
(According to UniProtKB , COMPARTMENTS Subcellular localization database ,
Ontologies according to Gene Ontology Consortium 01 Apr 2014 via
Entrez Gene ,
Sets of similar genes according to GenesLikeMe )
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Pathways & Interactionsfor 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 GenesLikeMe ,
Interaction Networks according to
QIAGEN ,
and/or STRING ,
Interactions according to 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Apr 2014 via
Entrez Gene ,
Sets of similar genes according to GenesLikeMe )
About This Section
Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MDRV Interactions: Search GeneGlobe Interaction Network for MDRV
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Drugs & Compoundsfor 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 ,
Sets of similar genes according to GenesLikeMe )
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Browse compounds at ApexBio Browse Tocris compounds for MDRV
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Transcriptsfor MDRV gene (Secondary structures according to
fRNAdb ,Unigene
(Build 236 Homo sapiens; Apr 25 2013) or GenBank , Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC , GeneLoc ,
alternative splicing isoforms according to ASD and/or
ECgene ,OriGene ,
QIAGEN ,
shRNA from
OriGene ,
microRNA from QIAGEN ,
SwitchGear Genomics ,
OriGene ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
and/or Addgene ,
Primers from
OriGene , and/or
QIAGEN ,
Flow cytometry from eBioscience
)About This Section
Inhib. RNA Browse OriGene RNAi Predesigned siRNA for gene silencing in human mouse rat
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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 GenesLikeMe ,
in vivo and in vitro expression data from LifeMap Discovery™ ,
Protein expression images according to data from SPIRE 1 MOPED ,
2 PaxDb , and 3 MaxQB ,
plus additional links to
SOURCE , and/or
BioGPS , and/or
UniProtKB ,QIAGEN ,
Primers from
OriGene , and/or
QIAGEN ,
In Situ Hybridization Assays from Advanced Cell Diagnostics )
About This Section
See probesets specificity/sensitivity at GeneAnnot CGAP TAG: -- MDRV Protein expression data from MOPED1 2 3 : Custom PCR Arrays for MDRV Primer Browse OriGene qPCR Search Pre-validated RT2 qPCR
Primer Assays in human, mouse, rat MDRV QuantiTect SYBR Green Assays in human mouse rat QuantiFast Probe-based Assays in human mouse rat In Situ Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MDRV
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Orthologsfor MDRV gene
(Orthologs according to
1,2 HomoloGene (2 older version, for species not in 1 newer version),
3 euGenes ,
4 SGD
,
5 MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase ,
and/or
6 Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam )
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Paralogsfor MDRV gene (Paralogs according to
1 HomoloGene ,2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe )About This Section
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Genomic Variantsfor MDRV gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
4 UniProtKB , 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
Site Specific Mutation Identification with PCR Assays
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Disorders
/ Diseasesfor MDRV gene
(in which this Gene is Involved, According to MalaCards ,
OMIM, UniProtKB ,
the University of Copenhagen DISEASES
database ,
Genatlas , GeneTests ,
GAD ,
HuGE Navigator ,
and/or TGDB ,
Sets of similar genes according to GenesLikeMe )
About This Section
OMIM gene information: 601846
OMIM disorders : --1 : About MalaCards muscular dystrophy with rimmed vacuoles
Find genes that share disorders with MDRV
About GenesLikeMe Export disorders for MDRV gene to outside databases
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Publicationsfor MDRV gene (in
PubMed .
Associations of this gene to articles via
1 Entrez Gene ,
2 UniProtKB/Swiss-Prot ,
3 HGNC ,
4 GAD ,
5 PharmGKB ,
6 HMDB ,
7 DrugBank ,
8 UniProtKB/TrEMBL ,
9 Novoseek , and/or
10 fRNAdb )
About This Section
PubMed article for MDRV gene integrated from 10 sources :(articles sorted by number of sources associating them with MDRV)
Fine mapping of a distinctive autosomal dominant vacuolar neuromyopathy using 11 novel microsatellite markers from chromosome band 19p13.3. (PubMed id 11039585) 1 (Eur. J. Hum. Genet. 2000)
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External Searches for MDRV gene (in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing MDRV gene
(According to
Entrez Gene ,
HGNC ,
AceView ,
euGenes ,
Ensembl ,
miRBase ,
ECgene ,
Kegg ,
and/or
H-InvDB )
About This Section
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Other Databases showing MDRV gene
(According to HUGE )
About This Section --
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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 )About This Section
Name Description PharmGKB entry for MDRV Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for MDRV gene: MDRV GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor 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 , eBioscience , antibodies-online , GeneTex , and/or others, Gene Editing from DNA2.0 . Clones from OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Addgene , Cell lines from GenScript , and ESI BIO , Flow cytometery from eBioscience , 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 genOway )About This Section
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 Predesigned siRNA for gene silencing in human mouse rat QuantiFast Probe-based Assays in human mouse rat QuantiTect SYBR Green Assays in human mouse rat 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
Search Tocris compounds for MDRV
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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Function for MDRV
Genomic Views for MDRV
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