TMEM27 Gene
protein-coding GIFtS : 51
GCID: GC0X M015555
transmembrane protein 27
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Aliasesfor TMEM27 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 27 1 2 3 NX171 2 5 0610008J07Rik2 NX-172 Collectrin1 Kidney-Specific Membrane Protein2
Export aliases for TMEM27 gene to outside databases Previous GC identifers: GC0XM015007 GC0XM015405 GC0XM013399
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Summariesfor TMEM27 gene (According to Entrez Gene ,
Tocris Bioscience ,
Wikipedia's
Gene Wiki ,
PharmGKB ,
UniProtKB/Swiss-Prot ,
and/or
UniProtKB/TrEMBL )
About This Section Entrez Gene summary for TMEM27 : This gene encodes a transmembrane protein that is important for trafficking amino acid transporters to the apical brush border of proximal tubules. It also plays a role in controlling insulin exocytosis by regulating formation of the SNARE (soluble N-ethylmaleimide-sensitive-factor attachment protein receptor) complex in pancreatic beta cells. (provided by RefSeq, Nov 2009) UniProtKB/Swiss-Prot: TMM27_HUMAN, Q9HBJ8 Function : Regulator of SNARE complex function. Stimulator of beta cell replication
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Genomic Viewsfor TMEM27 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_000023.10 NC_018934.1 NT_167197.1 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the TMEM27 gene promoter: c-Fos AP-1 CUTL1 Nkx5-1 Evi-1 GATA-1 RORalpha2 FOXO4 HFH-1 c-Jun Other transcription factors Search SABiosciences Chromatin IP Primers for TMEM27 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMEM27
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: Xp22 Ensembl cytogenetic band: Xp22.2 HGNC cytogenetic band: Xp22 TMEM27 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome X GeneLoc Exon Structure
GeneLoc location for GC0XM015555: view genomic region
(about GC identifiers )
Start:
15,645,441 bp from pter
End:
15,683,154 bp from pter
Size:
37,714 bases
Orientation:
minus strand
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Proteinsfor TMEM27 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: TMM27_HUMAN, Q9HBJ8 (See
protein sequence )Recommended Name: Collectrin precursor Size : 222 amino acids; 25235 Da
Subunit : Homodimer (By similarity). Associates with SLC6A18 (By similarity). Interacts with SNAPIN
Subcellular location : Membrane; Single-pass type I membrane protein (Potential)
Sequence caution : Sequence=AAQ89419.1; Type=Frameshift; Positions=207;
Secondary accessions : B2R9M1 Q6UW07Explore the universe of human proteins at neXtProt for TMEM27: NX_Q9HBJ8 Post-translational modifications:
Glycosylated (By similarity)1
The extracellular domain is cleaved and released from the cell membrane of pancreatic beta cells (By similarity)1
View modification sites using PhosphoSitePlus 2 View neXtProt modification sites for NX_Q9HBJ8 TMEM27 Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins: NP_065716.1 ENSEMBL proteins: ENSP00000369699 Human Recombinant Protein Products: Gene Ontology (GO): 1 cellular component term (GO ID links to tree view) : About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0016021 integral to membrane
IEA --
TMEM27 for ontologies About GeneDecksing TMEM27 Antibody Products: Assay Products for TMEM27:
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Protein
Domains / Familiesfor TMEM27 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
TMEM27 for domains About GeneDecksing 1 InterPro domain/family :
Graphical View of Domain Structure for InterPro Entry Q9HBJ8 ProtoNet protein and cluster: Q9HBJ8
UniProtKB/Swiss-Prot: TMM27_HUMAN, Q9HBJ8 Similarity : Belongs to the TMEM27 family
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Functionfor TMEM27 gene
(According to 1 UniProtKB ,
Genatlas ,
LifeMap Discovery™ ,
IUBMB , and/or
2 DME ,
Human phenotypes from GenomeRNAi ,
Animal models from MGI Mar 06 2013,
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 ,
Clones from EMD Millipore ,
OriGene ,
SwitchGear Genomics ,
GenScript ,
Sino Biological ,
DNA2.0 ,
and Vector BioLabs ,
Cell Lines from GenScript ,
LifeMap BioReagents ,
In Situ Hybridization Assays from Advanced Cell Diagnostics ,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene .)
About This Section Function Summary: UniProtKB/Swiss-Prot: TMM27_HUMAN, Q9HBJ8 Function : Regulator of SNARE complex function. Stimulator of beta cell replication
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 TMEM27 (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for TMEM27OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: TMEM27 (NM_020665 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TMEM27 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat TMEM27
In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM27
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view) : About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0008237 metallopeptidase activity
IEA -- GO:0008241 peptidyl-dipeptidase activity
IEA --
TMEM27 for ontologies About GeneDecksing 1 GenomeRNAi human phenotype for TMEM27 :Animal Models: Mouse knock-outs for TMEM27: Tmem27 tm1.1Pngr Tmem27 tm1Thu 7 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Tmem27) :
TMEM27 for phenotypes About GeneDecksing
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Pathways & Interactionsfor TMEM27 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 TMEM27 STRING Interaction
Network Preview (showing 1 interactants - click image to see more details)1 Interacting protein for TMEM27 (ENSP00000369699 4 ) via UniProtKB, MINT, STRING , and/or I2D About this table Gene Ontology (GO): 1 biological process term (GO ID links to tree view) : About this table
GO ID Qualified GO term Evidence PubMed IDs GO:0006508 proteolysis
IEA --
TMEM27 for ontologies About GeneDecksing
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Drugs & Compoundsfor TMEM27 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 TMEM27 Search CenterWatch for drugs/clinical trials and news about TMEM27 / TMM27
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Transcriptsfor TMEM27 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 ,
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 TMEM27 gene: NM_020665.4 Unigene Cluster for TMEM27:
Transmembrane protein 27 Hs.129614 [show with all ESTs ] Unigene Representative Sequence: BC014317 1 Ensembl transcript including schematic representation, and UCSC links where relevant : ENST00000380342 (uc004cxc.2 ) Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for TMEM27 (see all 3 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for TMEM27OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: TMEM27 (NM_020665 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for TMEM27 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat TMEM27
Additional cDNA sequence: AF229179.1 AK313835.1 AY359060.1 BC014317.1 BC015099.1 BC050606.1
7 DOTS entries : DT.202718 DT.121314624
DT.91766823 DT.102823265 DT.121314632 DT.121314666 DT.91655565 24/101 AceView cDNA sequences (see all 101 ):
CB137859 CB139958 AI373739 AI253234 AA999850 CB137251 AI650909 CB133561 CB134037 CB163923 BC015099 AY359060 BG564304 CB139945 AF229179 BC050606 AI985237 CB139939 BG429174 CB125058 AI793025 BG430790 AA345162 BF431418 GeneLoc Exon Structure
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Expression for TMEM27 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 TMEM27 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: TGGTATTTGT
About this image TMEM27 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table See TMEM27 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for TMEM27 SOURCE GeneReport for Unigene cluster: Hs.129614 UniProtKB/Swiss-Prot: TMM27_HUMAN, Q9HBJ8 Tissue specificity : Kidney; collecting ducts. Pancreas; beta cells of islets SABiosciences Custom PCR Arrays for TMEM27 Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for TMEM27Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat TMEM27 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat TMEM27 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat TMEM27 In Situ Assay Products: Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM27
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Orthologsfor TMEM27 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 chordates.
Orthologs for TMEM27 gene from 5/12 species (see all 12 ) About this table
ENSEMBL Gene Tree for TMEM27 (if available)TreeFam Gene Tree for TMEM27 (if available)
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Paralogsfor TMEM27 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for TMEM27 gene ACE 2 ENSG00000264813 2 ACE2 2 1 SIMAP similar gene for TMEM27 using alignment to 1 protein entry: TMM27_HUMAN :ACE2
TMEM27 for paralogs About GeneDecksing
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Genomic Variantsfor TMEM27 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 X pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for TMEM27 (15645441 - 15683154 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 1 variation for TMEM27 1 CNV : 3262 Locus Specific Mutation Databases (LSDB): TMEM27
SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing TMEM27
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Disorders
/ Diseasesfor TMEM27 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
TMEM27 for disorders About GeneDecksing
OMIM gene information: 300631
OMIM disorders : --8 diseases for TMEM27 : About MalaCards maturity-onset diabetes of the young pancreatitis hartnup disease dent disease polycystic kidney disease aminoaciduria turner syndrome kidney disease 2 diseases from the University of Copenhagen DISEASES database for TMEM27 :Hartnup disease maturity-onset diabetes of the young Human Genome Epidemiology (HuGE) Navigator: TMEM27 (1 document)Export disorders for TMEM27 gene to outside databases
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Publicationsfor TMEM27 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 TMEM27 gene, integrated from 9 sources (see all 29 ): (articles sorted by number of sources associating them with TMEM27) Utopia : connect your pdf to the dynamic world of online information
Collectrin, a collecting duct-specific transmembrane glycoprotein, is a novel homolog of ACE2 and is developmentally regulated in embryonic kidneys. (PubMed id 11278314) 1 , 2 , 3, 9 Zhang H.... Makino H. (2001) The HNF-1 target collectrin controls insulin exocytosis by SNARE complex formation. (PubMed id 16330323) 1 , 2 Fukui K.... Yamagata K. (2005) 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) The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309) 1 , 2 Clark H.F.... Gray A.M. (2003) Locus heterogeneity of Dent's disease: OCRL1 and TMEM 27 genes in patients with no CLCN5 mutations. (PubMed id 19582483) 1 , 9 Tosetto E....Anglani F. (2009) The role of transmembrane protein 27 (TMEM27) in isle t physiology and its potential use as a beta cell mass biomarker. (PubMed id 20386877) 1 , 9 Altirriba J....Gomis R. (2010) Collectrin and the kidney. (PubMed id 17693757) 1 , 9 Mount D.B. (2007) Not just angiotensinases: new roles for the angiotens in-converting enzymes. (PubMed id 19763395) 1 , 9 Lambert D.W....Turner A.J. (2010) Tmem27 dimerization, deglycosylation, plasma membrane depletion, and the extracellular Phe-Phe motif are negative regulators of cleava ge by Bace2. (PubMed id 22628310) 1 Esterhazy D....Stoffel M. (2012) Collectrin and ACE2 in renal and intestinal amino aci d transport. (PubMed id 21814048) 1 Singer D. and Camargo S.M. (2011)
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External Searches for TMEM27 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing TMEM27 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 TMEM27 gene
(According to HUGE )
About This Section --
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Specialized Databases showing TMEM27 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 TMEM27 Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for TMEM27 gene: Search GeneIP for patents involving TMEM27 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor TMEM27 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 , Clones from EMD Millipore , OriGene , GenScript , Sino Biological , DNA2.0 , SwitchGear Genomics , Vector BioLabs , 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 About This Section
Browse OriGene Antibodies OriGene shRNA RFP for TMEM27 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for TMEM27 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for TMEM27 OriGene Protein Over-expression Lysate for TMEM27 Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for TMEM27 Browse 3'-UTR reporter clones for miRNA target validation OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for TMEM27 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for TMEM27 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 OriGene Purified Protein for TMEM27 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for TMEM27 OriGene Custom Protein Services for TMEM27 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat TMEM27 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing TMEM27 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMEM27 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat TMEM27 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat TMEM27 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat TMEM27
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TMEM27 Proteins, Antibodies, CLIAs, and ELISAs
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM27
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Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat TMEM27
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Aliases for TMEM27
Databases for TMEM27
Disorders / Diseases for TMEM27
Domains / Families for TMEM27
Drugs / Compounds for TMEM27
Expression for TMEM27
Function for TMEM27
Genomic Views for TMEM27
Intellectual Property for TMEM27
Orthologs for TMEM27
Paralogs for TMEM27
Pathways / Interactions for TMEM27
Products for TMEM27
Proteins for TMEM27
Publications for TMEM27
Search Box for TMEM27
Summaries for TMEM27
Transcripts for TMEM27
Variants for TMEM27
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