CABP2 Gene
protein-coding GIFtS : 48
GCID: GC11 M067286
calcium binding protein 2
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Aliasesfor CABP2 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 Calcium Binding Protein 2 1 2 DFNB932 Calcium-Binding Protein 22 CaBP23
Export aliases for CABP2 gene to outside databases Previous GC identifers: GC11M069809 GC11M068982 GC11M067536 GC11M067061 GC11M067043 GC11M063615
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Summariesfor CABP2 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 CABP2 : This gene belongs to a subfamily of calcium binding proteins that share similarity to calmodulin. Like calmodulin, these family members can likely stimulate calmodulin-dependent kinase II and the protein phosphatase calcineurin. Calcium binding proteins are an important component of calcium mediated cellular signal transduction.(provided by RefSeq, Nov 2010)
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Genomic Viewsfor CABP2 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_000011.9 NC_018922.1 NT_167190.1 Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the CABP2 gene promoter: Egr-3 Spz1 Elk-1 Pax-5 AP-2gamma Evi-1 PPAR-alpha PPAR-gamma1 PPAR-gamma2 Zic3 Other transcription factors Search SABiosciences Chromatin IP Primers for CABP2 Epigenetics: QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CABP2
Genomic Location: Genomic View : UCSC Golden Path with GeneCards custom track Entrez Gene cytogenetic band: 11q13.1 Ensembl cytogenetic band: 11q13.2 HGNC cytogenetic band: 11q13.1 CABP2 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different) GeneLoc information about chromosome 11 GeneLoc Exon Structure
GeneLoc location for GC11M067286: view genomic region
(about GC identifiers )
Start:
67,286,409 bp from pter
End:
67,290,899 bp from pter
Size:
4,491 bases
Orientation:
minus strand
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Proteinsfor CABP2 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: CABP2_HUMAN, Q9NPB3 (See
protein sequence )Recommended Name: Calcium-binding protein 2 Size : 220 amino acids; 24482 Da
Subcellular location : Cytoplasm, perinuclear region. Cell membrane; Lipid-anchor; Cytoplasmic side. Golgi apparatusAlternative splicing : 2 isoforms : Q9NPB3-1 Q9NPB3-2 (No experimental confirmation available)Explore the universe of human proteins at neXtProt for CABP2: NX_Q9NPB3 CABP2 Protein expression data from MOPED and PaxDb : About this image
REFSEQ proteins: NP_057450.2 ENSEMBL proteins: ENSP00000312037 ENSP00000294288 ENSP00000446180 Human Recombinant Protein Products: Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view) : About this table
CABP2 for ontologies About GeneDecksing CABP2 Antibody Products: Assay Products for CABP2:
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Protein
Domains / Familiesfor CABP2 gene (According to InterPro , ProtoNet ,
UniProtKB , and/or BLOCKS ,
Sets of similar genes according to GeneDecks )
About This Section
CABP2 for domains About GeneDecksing 5 InterPro domains/families :
Graphical View of Domain Structure for InterPro Entry Q9NPB3 ProtoNet protein and cluster: Q9NPB3
UniProtKB/Swiss-Prot: CABP2_HUMAN, Q9NPB3 Similarity : Contains 4 EF-hand domains
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Functionfor CABP2 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 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 CABP2 (see all 4 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for CABP2OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: CABP2 (NM_016366 ) Browse Sino Biological Human cDNA Clones DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CABP2 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat CABP2
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:0005509 calcium ion binding
IEA --
CABP2 for ontologies About GeneDecksing
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Pathways & Interactionsfor CABP2 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 Unified GeneCards pathways   About this table See pathways by source Super-pathway contained gene-specific pathways 1 Visual Cycle in Retinal Rods
1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for CABP2 Interactions: Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CABP2 STRING Interaction
Network Preview (showing 3 interactants - click image to see more details)4 Interacting proteins for CABP2 (Q9NPB3 3 ENSP00000294288 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
CABP2 for ontologies About GeneDecksing
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Drugs & Compoundsfor CABP2 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 CABP2 Search CenterWatch for drugs/clinical trials and news about CABP2
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Transcriptsfor CABP2 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 CABP2 gene (2 alternative transcripts): NM_016366.2 NM_031204.2 Unigene Cluster for CABP2:
Calcium binding protein 2 Hs.278984 [show with all ESTs ] Unigene Representative Sequence: AB593136 3 Ensembl transcripts including schematic representations, and UCSC links where relevant : ENST00000353903 ENST00000294288 ENST00000545205 (uc001omc.1 uc001ome.1 )Clone Products: OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for CABP2 (see all 4 ) OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for CABP2OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling GenScript: all cDNA clones in your preferred vector: CABP2 (NM_016366 ) DNA2.0 Custom Codon Optimized Gene
Synthesis Service for CABP2 Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat CABP2
Additional cDNA sequence: AB593136.1 AF169154.1 BC018476.1
1 DOTS entry : DT.91657280
7 AceView cDNA sequences :
BC018476 BX280663 NM_016366 NM_031204 AF169154 BE780276 BM686898 GeneLoc Exon Structure 2 Alternative Splicing Database (ASD) splice patterns (SP) for CABP2 About this scheme ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 SP1 :                   SP2 :                  
ECgene alternative splicing isoforms for CABP2
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Expression for CABP2 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 CABP2 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this image BioGPS CGAP TAG: TTCCTTGAAG
About this image CABP2 expression in embryonic tissues and stem cells Expression by the Database of Embryonic development, Stem cell research, and
Regenerative medicine About this table 1 LifeMap In Vivo Development Anatomical Compartment/Cell Tissue Anatomical Compartment
Cell Category (developmental path) Eye Inner Nuclear Layer Type1 Off Cone Bipolar Cells Bipolar, Retina Expression: Positive Negative
Selective markerExperimental details:
Curated
Microarrays
In-situ hybridization
See CABP2 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for CABP2 SOURCE GeneReport for Unigene cluster: Hs.278984 UniProtKB/Swiss-Prot: CABP2_HUMAN, Q9NPB3 Tissue specificity : Retina SABiosciences Custom PCR Arrays for CABP2 Primer Products: OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for CABP2Browse OriGene validated miRNA SYBR primer pairs SABiosciences RT2 qPCR Primer Assay in human , mouse , rat CABP2 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat CABP2 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat CABP2
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Orthologsfor CABP2 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 animals.
Orthologs for CABP2 gene from 4/10 species (see all 10 ) About this table
ENSEMBL Gene Tree for CABP2 (if available)TreeFam Gene Tree for CABP2 (if available)
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Paralogsfor CABP2 gene (Paralogs according to
1 HomoloGene , 2 Ensembl , and 3 SIMAP , Pseudogenes according to 4 Pseudogene.org Build 68)About This Section Paralogs for CABP2 gene CALML3 2 CABP5 2 CABP1 2 TNNC1 2 CALM3 2 CABP4 2 CALM1 2 TNNC2 2 CALML6 2 CALML5 2 CALML4 2 CABP7 2 CALN1 2 CALM2 2 18/25 SIMAP similar genes for CABP2 using alignment to 3 protein entries: CABP2_HUMAN (see all proteins )
(see all similar genes ):CABP5 CABP1 CALN1 CALM3 CABP4 CALM1 CALML3 CALM2 S100Z CALML5 TNNC1 CETN1 TNNC2 CETN2 MYL9 MYL1 PPP3R1 MYL6
CABP2 for paralogs About GeneDecksing
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Genomic Variantsfor CABP2 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 11 pos Sequence # AA Chg Type More # Allele freq Pop Total sample More
HapMap Linkage Disequilibrium report for CABP2 (67286409 - 67290899 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 1 variation for CABP2 1 CNV : 5275 Human Gene Mutation Database (HGMD) : CABP2 SABiosciences Cancer Mutation PCR Assays
QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing CABP2
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Disorders
/ Diseasesfor CABP2 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
CABP2 for disorders About GeneDecksing
OMIM gene information: 607314
OMIM disorders : --UniProtKB/Swiss-Prot: CABP2_HUMAN, Q9NPB3
Defects in CABP2 are the cause of deafness, autosomal recessive, 93 (DFNB93) [MIM:614899]. A form of non-syndromic deafness characterized by stable, bilateral, symmetric, prelingual moderate to severe deafness. Hearing impairment is slightly more pronounced in the mid-frequencies, resulting in a distinctive shallow U-shaped audiogram 5 diseases for CABP2 : About MalaCards non-hodgkin lymphoma amebiasis hodgkin's lymphoma pulmonary function retinitis 1 disease from the University of Copenhagen DISEASES database for CABP2 :Amebiasis Export disorders for CABP2 gene to outside databases
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Publicationsfor CABP2 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 CABP2 gene, integrated from 9 sources (see all 12 ): (articles sorted by number of sources associating them with CABP2) Utopia : connect your pdf to the dynamic world of online information
Five members of a novel Ca(2+)-binding protein (CABP) subfamily with similarity to calmodulin. (PubMed id 10625670) 1 , 2 , 3 Haeseleer F....Palczewski K. (2000) Membrane targeting of the EF-hand containing calcium-sensing proteins CaBP7 and CaBP8. (PubMed id 19338761) 1 , 2 McCue H.V.... Haynes L.P. (2009) Ca(2+)-binding proteins in the retina: from discovery to etiology of human disease. (PubMed id 11108966) 1 , 2 Sokal I....Palczewski K. (2000) A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment. (PubMed id 22981119) 2 Schrauwen I.... Van Camp G. (2012) Full-length transcriptome analysis of human retina-derived cell lines ARPE-19 and Y79 using the vector-capping method. (PubMed id 21697133) 1 Oshikawa M.... Kato S. (2011) Human chromosome 11 DNA sequence and analysis including novel gene identification. (PubMed id 16554811) 2 Taylor T.D....Sakaki Y. (2006) 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) Functional roles and efficiencies of the thioredoxin boxes of calcium-binding proteins 1 and 2 in protein folding. (PubMed id 11415439) 1 Kramer B....Soling H.D. (2001) Secreted modular calcium-binding protein 2 haplotypes are associated with pulmonary function. (PubMed id 17204727) 9 Wilk J.B....Karamohamed S. (2007) Xenopus SMOC-1 Inhibits bone morphogenetic protein si gnaling downstream of receptor binding and is essential for postgastrulation de velopment in Xenopus. (PubMed id 19414592) 9 Thomas J.T....Moos M. (2009)
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External Searches for CABP2 gene
(in PubMed ,
OMIM , and NCBI Bookshelf ) About This Section
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Genome Databases showing CABP2 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 CABP2 gene
(According to HUGE )
About This Section --
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Specialized Databases showing CABP2 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 CABP2 Pharmacogenomics, SNPs, Pathways
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About This Section Patent Information for CABP2 gene: Search GeneIP for patents involving CABP2 GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
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Productsfor CABP2 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 CABP2 OriGene 29mer shRNA kits in GFP-retroviral vector in human , mouse , rat for CABP2 OriGene genome-wide validated SYBR primer pairs in human , mouse , rat for CABP2 OriGene Protein Over-expression Lysate for CABP2 Browse OriGene Fluorogenic Cell Assay Kits OriGene siRNA for CABP2 Browse 3'-UTR reporter clones for miRNA target validation OriGene untagged cDNA clones in CMV expression vector in human , mouse , rat for CABP2 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human , mouse , rat for CABP2 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 CABP2 OriGene custom cloning services - gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling OriGene Custom Antibody Services for CABP2 OriGene Custom Protein Services for CABP2 OriGene Custom Immunoassay Development
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat CABP2 QIAGEN SeqTarget long-range PCR primers in human , mouse , rat for resequencing CABP2 QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CABP2 QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human , mouse , rat CABP2 QIAGEN QuantiFast Probe-based Assays in human , mouse , rat CABP2 QIAGEN QuantiTect SYBR Green Assays in human , mouse , rat CABP2
Search Tocris compounds for CABP2
CABP2 Proteins, Antibodies, CLIAs, and ELISAs
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Vector BioLabs ready-to-use adenovirus/AAV for human , mouse , rat CABP2
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Aliases for CABP2
Databases for CABP2
Disorders / Diseases for CABP2
Domains / Families for CABP2
Drugs / Compounds for CABP2
Expression for CABP2
Function for CABP2
Genomic Views for CABP2
Intellectual Property for CABP2
Orthologs for CABP2
Paralogs for CABP2
Pathways / Interactions for CABP2
Products for CABP2
Proteins for CABP2
Publications for CABP2
Search Box for CABP2
Summaries for CABP2
Transcripts for CABP2
Variants for CABP2
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