TMEM63A Gene
protein-coding GIFtS : 50
GCID: GC01 M226033
transmembrane protein 63A (Previous name: KIAA0792 ) (Previous symbol: KIAA0792 )
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Aliasesfor TMEM63A 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 ,
and/or 10 fRNAdb )About This Section Aliases Transmembrane Protein 63A 1 2 KIAA07921 2 3 KIAA04893
Export aliases for TMEM63A gene to outside databases Previous GC identifers: GC01M222340 GC01M224099 GC01M196550
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Summariesfor TMEM63A gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Gene Wiki entry for TMEM63A
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Genomic Viewsfor TMEM63A 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 69) ,
Regulatory elements and Epigenetics data according to
QIAGEN ,
SABiosciences , and/or
SwitchGear Genomics )About This Section RefSeq DNA sequence: NC_000001.10 NC_018912.1 NT_167186.1 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the TMEM63A gene promoter: Lmo2 RelA NF-kappaB Roaz PPAR-alpha GCNF-1 NF-kappaB1 GCNF-2 Ik-1 Other transcription factors Search SABiosciences Chromatin IP Primers for TMEM63A Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat TMEM63A
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 1q42.12 Ensembl cytogenetic band: 1q42.12 HGNC cytogenetic band: 1q42.12 TMEM63A Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 1 GeneLoc Exon Structure
GeneLoc location for GC01M226033: view genomic region
(about GC identifiers )
Start:
226,033,233 bp from pter
End:
226,070,420 bp from pter
Size:
37,188 bases
Orientation:
minus strand
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Proteinsfor TMEM63A gene
(According to
1 UniProtKB ,
HORDE ,
neXtProt ,
Ensembl ,
and/or Reactome ,
Modification sites according to 2 PhosphoSitePlus ,
Specific Peptides from DME ,
Protein expression images according to data from SPIRE MOPED and PaxDb ,
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
Uscn ,
Biochemical Assays by
EMD Millipore ,
R&D Systems ,
OriGene ,
GenScript ,
Cell Signaling Technology ,
Enzo Life Sciences , and/or
Uscn ,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene ,
Antibodies by
EMD Millipore ,
R&D Systems ,
GenScript ,
Cell Signaling Technology ,
OriGene ,
Novus Biologicals ,
Thermo Fisher Scientific ,
Abcam , and/or
Uscn )
About This Section UniProtKB/Swiss-Prot: TM63A_HUMAN, O94886 (See
protein sequence )Recommended Name: Transmembrane protein 63A Size : 807 amino acids; 92126 Da
Subcellular location : Lysosome membrane; Multi-pass membrane protein
Sequence caution : Sequence=BAA34512.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;Sequence=BAD96654.1; Type=Erroneous initiation; Note=Translation N-terminally shortened; Sequence=BAD96664.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions : Q53GI7 Q5TE96 Q8N2U2Explore the universe of human proteins at neXtProt for TMEM63A: NX_O94886 Post-translational modifications:
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_O94886 TMEM63A Protein expression data from MOPED and PaxDb : About this image REFSEQ proteins: NP_055513.2 ENSEMBL proteins: ENSP00000355800 ENSP00000409002 ENSP00000445237 Human Recombinant Protein Products for TMEM63A: Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view) : About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0005765 lysosomal membrane
IDA -- GO:0016021 integral to membrane
IEA --
TMEM63A for ontologies About GeneDecksing TMEM63A Antibody Products: Assay Products for TMEM63A:
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Protein
Domains / Familiesfor TMEM63A gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
TMEM63A for domains About GeneDecksing 3 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry O94886 ProtoNet protein and cluster: O94886
UniProtKB/Swiss-Prot: TM63A_HUMAN, O94886 Similarity : Belongs to the SPO75/TMEM63 family
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Functionfor TMEM63A gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory ,
bound targets from SABiosciences ,
miRNA Gene Targets from miRTarBase ,
shRNA from
OriGene ,
Sirion Biotech ,
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 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
Sirion Biotech ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Gene Ontology (GO): 1 molecular function term (GO ID links to tree view) : About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0000166 nucleotide binding
IEA --
TMEM63A for ontologies About GeneDecksing Phenotypes: 1 GenomeRNAi human phenotype for TMEM63A :Animal Models: Clone Products: Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for TMEM63A (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for TMEM63A (see all 2 )OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: TMEM63A (NM_014698 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TMEM63A Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat TMEM63A
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM63A
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Pathways & Interactionsfor TMEM63A gene
(Pathways according to
EMD Millipore ,
R&D Systems ,
Cell Signaling Technology ,
KEGG ,
PharmGKB ,
BioSystems ,
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 1 UniProtKB ,
2 MINT ,
3 I2D , and/or
4 STRING ,
with links to IntAct and
Ensembl ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene) .
About This Section Interactions: Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TMEM63A 1 Interacting protein for TMEM63A (O94886 3 ) via UniProtKB, MINT, STRING, and/or I2D About this table
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Drugs & Compoundsfor TMEM63A gene (Chemical Compounds according to UniProtKB , Enzo Life Sciences ,
EMD Millipore , Tocris Bioscience
HMDB ,
BitterDB , and/or
Novoseek , 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 TMEM63A Search CenterWatch for drugs/clinical trials and news about TMEM63A / TM63A
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Transcriptsfor TMEM63A gene (Secondary structures according to
fRNAdb ,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank , RefSeq according to Entrez Gene ,
DOTS (version 10), and/or
AceView ,
transcript ids from Ensembl
with links to UCSC ,
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 ,
Sirion Biotech ,
microRNA from QIAGEN ,
Tagged/untagged cDNA clones from
OriGene ,
SwitchGear Genomics ,
GenScript ,
DNA2.0 ,
Vector BioLabs ,
Primers from
OriGene ,
SABiosciences , and/or
QIAGEN
)About This Section REFSEQ mRNAs for TMEM63A gene: NM_014698.2 Unigene Cluster for TMEM63A:
Transmembrane protein 63A Hs.119387 [show with all ESTs ] Unigene Representative Sequence: NM_014698 9 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000366835 (uc010pvi.1 uc001hpm.2 ) ENST00000496025 ENST00000482753 ENST00000487971 ENST00000474478 ENST00000483779 ENST00000436966 ENST00000487817 ENST00000537914 Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for TMEM63A (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for TMEM63A (see all 2 )OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: TMEM63A (NM_014698 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TMEM63A Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat TMEM63A
Additional cDNA sequence: AB018335.1 AK022465.1 AK022502.1 AK093860.1 AK222934.1 AK222944.1 BC030245.1 BC113811.1
22 DOTS entries : DT.100809681 DT.121385902
DT.91753085 DT.100646017 DT.313923 DT.433508 DT.75125328 DT.91753082 DT.99958517 DT.100776637 DT.95272203 DT.100776636 DT.97835932 DT.121385814 DT.121385803 DT.121385834 DT.121385857 DT.121385961 DT.95177846 DT.450530 DT.92040653 DT.97760262 24/230 AceView cDNA sequences (see all 230 ):
BF198037 AI985066 AI248404 BM786323 CA417857 BU542717 AJ705844 CD643051 BM874598 AB018335 AI052158 BQ896620 BP380711 BQ944516 BI031100 AA357762 CK430404 BU752102 BF512395 BQ898575 BG479230 BM873627 BX506091 AA747288 GeneLoc Exon Structure 5/18 Alternative Splicing Database (ASD) splice patterns (SP) for TMEM63A (see all 18 ) About this scheme ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b · 9c ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · SP1 :                                                     SP2 :                                                     SP3 :         -   -         -   -           -           -             SP4 :         -   -   -       -   -                     -             SP5 :         -   -         -   -                     -            
ExUns: 14b ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b ^ 18a · 18b ^ 19 ^ 20a · 20b ^ 21 ^ 22a · 22b ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 SP1 :                                             SP2 :             -                                 SP3 :                                             SP4 :                                             SP5 :                                            
ECgene alternative splicing isoforms for TMEM63A
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Expression for TMEM63A 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 TMEM63A expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: TCACTGAGTTAbout this image TMEM63A expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table
Stem Cell Differentiation: 1 LifeMap Cell Name Category Definitive endoderm-like cells (A scalable, suspensi... )Expression: Positive Negative
Selective markerExperimental details:
Curated
Microarrays
In-situ hybridization
See TMEM63A Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for TMEM63A SOURCE GeneReport for Unigene cluster: Hs.119387 SABiosciences Custom PCR Arrays for TMEM63A Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for TMEM63ABrowse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat TMEM63A QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat TMEM63A QIAGEN QuantiFast Probe-based Assays in human , mouse , rat TMEM63A In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM63A
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Orthologsfor TMEM63A 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 )
About This Section
This gene was present in the common ancestor of eukaryotes.
Orthologs for TMEM63A gene from 7/28 species (see all 28 ) About this table
ENSEMBL Gene Tree for TMEM63A (if available)TreeFam Gene Tree for TMEM63A (if available)
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Paralogsfor TMEM63A gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for TMEM63A gene TMEM63B 2 TMEM63C 2 2 SIMAP similar genes for TMEM63A using alignment to 2 protein entries: TM63A_HUMAN (see all proteins ):TMEM63B TMEM63C
TMEM63A for paralogs About GeneDecksing
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Genomic Variantsfor TMEM63A gene (SNPs/Variants according to the
1 NCBI SNP Database ,
2 Ensembl ,
3 PupaSUITE ,
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) 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
Genomic Data Transcription Related Data Allele Frequencies SNP ID Valid Clinical significance Chr 1 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for TMEM63A (226033233 - 226070420 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 2 variations for TMEM63A 2 CNVs : 48250 5555
SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing TMEM63A
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Disorders
/ Diseasesfor TMEM63A 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 .)
About This Section TMEM63A for disorders About MalaCards
TMEM63A for disorders About GeneDecksing Human Genome Epidemiology (HuGE) Navigator: TMEM63A (3 documents) Export disorders for TMEM63A gene to outside databases
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Publicationsfor TMEM63A 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 articles for TMEM63A gene, integrated from 9 sources (see all 11 ): (articles sorted by number of sources associating them with TMEM63A) Utopia : connect your pdf to the dynamic world of online information
Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 9872452) 1 , 2 , 3 Nagase T.... Ohara O. (1998) The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414) 1 , 2 Gregory S.G.... Bentley D.R. (2006) The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334) 1 , 2 Gerhard D.S....Malek J. (2004) Characterization of cDNA clones in size-fractionated cDNA libraries from human brain. (PubMed id 9455484) 1 , 3 Seki N.... Ohara O. (1997) The proteome of lysosomes. (PubMed id 20957757) 2 Schroeder B.A.... Saftig P. (2010) Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086) 1 Bailey S.D....Anand S. (2010) Gene-centric association signals for lipids and apoli poproteins identified via the HumanCVD BeadChip. (PubMed id 19913121) 1 Talmud P.J.... . (2009) Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560) 1 Kimura K.... Sugano S. (2006) Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039) 1 Ota T.... Sugano S. (2004) Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932) 1 Strausberg R.L....Marra M.A. (2002)
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External Searches for TMEM63A gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing TMEM63A 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 TMEM63A gene
(According to HUGE )
About This Section
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Specialized Databases showing TMEM63A 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 TMEM63A Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for TMEM63A gene: Search GeneIP for patents involving TMEM63A GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor TMEM63A 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 , Uscn , Thermo Fisher Scientific , Gene Editing from DNA2.0 and Sirion Biotech , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , Cell lines from GenScript , LifeMap BioReagents , and Sirion Biotech , 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 )About This Section
Browse OriGene Antibodies Browse OriGene shRNA RFPs OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for TMEM63A OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for TMEM63A OriGene Protein Over-expression Lysate for TMEM63A Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for TMEM63A OriGene 3'-UTR Clone for TMEM63A OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for TMEM63A OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for TMEM63A Browse OriGene GFP tagged cDNA clones in CMV expression vector Browse OriGene MicroRNA Expression Plasmids Browse OriGene basic RS shRNAs Browse OriGene validated miRNA SYBR primer pairs Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for TMEM63A OriGene Custom Protein Services for TMEM63A OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat TMEM63A QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing TMEM63A QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human , mouse , rat TMEM63A QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat TMEM63A QIAGEN QuantiFast Probe-based Assays in human , mouse , rat TMEM63A QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat TMEM63A
Search Tocris compounds for TMEM63A
TMEM63A Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM63A
Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat TMEM63A
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Aliases for TMEM63A
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