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)
About This Section
|
| Aliases |
|---|
| Muscular Dystrophy, With Rimmed Vacuoles1 2 | | NIPA22 |
Export aliases for MDRV gene to outside databases |
Summaries
for MDRV gene(According to Entrez Gene,
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 angelman syndrome, and muscular dystrophy.
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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 73),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| Regulatory elements:
 Search SABiosciences Regulatory transcription factor binding sites for MDRV
Other transcription factors
Search SABiosciences Chromatin IP Primers for MDRV
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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
UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE 1MOPED,
2PaxDb, and 3MAXQB
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.,
Ontologies according to Gene
Ontology Consortium 01 Oct 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
LSBio,
Abcam, and/or
Cloud-Clone Corp.)
About This Section
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UniProtKB: --
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Protein
Domains /
Families
for MDRV gene(According to HGNC, IUPHAR, InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| -- |
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,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
Vector BioLabs,
and Sirion Biotech,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Oct 2013 via
Entrez Gene.)
About This Section
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Animal Models:
Cell Line
Products: |  | GenScript Custom overexpressing Cell Line Services for MDRV | |  | Search LifeMap BioReagents cell lines for MDRV | In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MDRV |
Pathways & Interactions
for MDRV gene
(Pathways according to
EMD Millipore,
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
SABiosciences,
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 Oct 2013 via
Entrez Gene).
About This Section
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Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MDRV
|
Drugs & Compounds
for MDRV gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek,
Ligands according to IUPHAR,
and Drugs according to DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for MDRV
Search CenterWatch for drugs/clinical trials and news about MDRV
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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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Sirion Biotech,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
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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 GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| See probesets specificity/sensitivity at GeneAnnot
CGAP TAG: --
SABiosciences Custom PCR Arrays for MDRV
Primer
Products: |  | Browse OriGene qPCR
| | | Search SABiosciences RT2 qPCR
Primer Assays in human, mouse, rat MDRV | | | Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MDRV | | | Search QIAGEN 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)
About This Section
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Paralogs
for MDRV gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
| | | SABiosciences Cancer Mutation PCR Assays |
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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.)
About This Section
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OMIM gene information: 601846
OMIM disorders: --
2  diseases for MDRV: About MalaCardsangelman syndrome muscular dystrophy
MDRV for disorders About GeneDecksing
Export disorders for MDRV gene to outside databases
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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)
About This Section
|
PubMed article for MDRV gene integrated from 9 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. (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
| -- |
Specialized Databases showing MDRV gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or 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:
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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory,
genOway)
About This Section
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|  | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MDRV | | | Search QIAGEN SeqTarget long-range PCR primers for resequencing in MDRV | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MDRV | | | Search QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MDRV | | | Search QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MDRV | | | Search QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat 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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GeneCards Homepage -
Last full update: 23 Oct 2013 -
Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014
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