TBX22 Gene
protein-coding GIFtS: 51
GCID: GC0XP079270
|
|
T-box 22(Previous name: cleft palate and/or ankyloglossia )
(Previous symbols: CPX, CLPA)
| |
Aliases
for TBX22 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| T-Box 221 2 | | TBXX2 | | CPX1 2 5 | | DJ795G23.11 | | CLPA1 2 | | T-Box Transcription Factor TBX222 | | T-Box Protein 222 3 | | TBOX223 | | Cleft Palate And/Or Ankyloglossia1 | | |
Export aliases for TBX22 gene to outside databasesPrevious GC identifers: GC0XP074823 GC0XP076231 GC0XP077311 GC0XP078033 GC0XP079083 GC0XP072851 |
Summaries
for TBX22 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 TBX22:
This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, theT-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Mutations inthis gene have been associated with the inherited X-linked disorder, Cleft palate with ankyloglossia, and it isbelieved to play a major role in human palatogenesis. Alternatively spliced transcript variants encoding differentisoforms have been found for this gene. (provided by RefSeq, Jul 2008)
UniProtKB/Swiss-Prot: TBX22_HUMAN, Q9Y458Function: Probable transcriptional regulator involved in developmental processes. This is major determinant crucial topalatogenesis
Gene Wiki entry for TBX22
|
Genomic Views
for TBX22 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_011651.17
Regulatory elements:
 SABiosciences Regulatory transcription factor binding sites in the TBX22 gene promoter:
C/EBPbeta SRY POU2F1 GATA-3 POU2F1a Nkx2-5
Other transcription factors
Search SABiosciences Chromatin IP Primers for TBX22
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TBX22 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: Xq21.1 Ensembl cytogenetic band: Xq21.1 HGNC cytogenetic band: Xq21.1TBX22 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 GC0XP079270: view genomic region
(about GC identifiers)
Start:
|
79,270,255 bp from pter |
End:
|
79,287,268 bp from pter |
Size:
|
17,014 bases |
Orientation:
|
plus strand |
|
Proteins
for TBX22 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
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: TBX22_HUMAN, Q9Y458 (See
protein sequence)Recommended Name: T-box transcription factor TBX22 Size: 520 amino acids; 57910 Da
Subcellular location: Nucleus (Potential)
Secondary accessions: Q5JZ06 Q96LC0 Q9HBF1Alternative splicing: 2 isoforms: Q9Y458-1 Q9Y458-2 Explore the universe of human proteins at neXtProt for TBX22: NX_Q9Y458
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q9Y458
TBX22 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (3 alternative transcripts):
NP_001103348.1 NP_001103349.1 NP_058650.1
ENSEMBL proteins: ENSP00000362393 ENSP00000362390 ENSP00000362388 ENSP00000396394
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:0005634 | nucleus |
NAS | -- |
TBX22 for ontologies About GeneDecksing
TBX22 Antibody Products:
Assay Products for TBX22: |
Protein
Domains /
Families
for TBX22 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
TBX22 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9Y458ProtoNet protein and cluster: Q9Y458 1 Blocks protein family: IPB001699 Transcription factor
UniProtKB/Swiss-Prot: TBX22_HUMAN, Q9Y458Similarity: Contains 1 T-box DNA-binding domain |
Function
for TBX22 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
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: TBX22_HUMAN, Q9Y458Function: Probable transcriptional regulator involved in developmental processes. This is major determinant crucial topalatogenesis
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TBX22 (see all 3)
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In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBX22 |
Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table
TBX22 for ontologies About GeneDecksing
Animal Models:
Mouse knock-out Tbx22tm1.1Sta for TBX22
7 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Tbx22):
TBX22 for phenotypes About GeneDecksing
|
Pathways & Interactions
for TBX22 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 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
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 TBX22
Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table
TBX22 for ontologies About GeneDecksing
|
Drugs & Compounds
for TBX22 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 TBX22
Search CenterWatch for drugs/clinical trials and news about TBX22
|
Transcripts
for TBX22 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 TBX22 gene (3 alternative transcripts): NM_001109878.1 NM_001109879.1 NM_016954.2 Unigene Cluster for TBX22: T-box 22 Hs.374253 [show with all ESTs]Unigene Representative Sequence: NM_0011098785 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000373296 ENST00000476373 ENST00000373294(uc004edj.1) ENST00000373291
ENST00000442340(uc010nmg.1 uc004edi.1)
Clone
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OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TBX22 (see all 3)
OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling
| | | GenScript: all cDNA clones in your preferred vector (see all 3): TBX22 (NM_016954) | | | DNA2.0 Custom Codon Optimized Gene
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Additional cDNA sequence: AF251684.1 AK097514.1 AY035371.1 BC014194.2 3 DOTS entries: DT.75148119 DT.95365125 DT.305015 11 AceView cDNA sequences: NM_016954 BX115071 BC014194 AY035371 AK097514 AW104387 AI018657 BF025868 AF251684 AA952933 BF376476
GeneLoc Exon Structure
3 Alternative Splicing Database (ASD) splice patterns (SP) for TBX22 About this scheme
| ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | · | 2c | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b |
|---|
|
| SP1: | | | | | | | | | - | | | | | | | | | | | | | | | | |
| SP2: | | | | | | | | | - | | | | | | | | | | | | | | | | |
| SP3: | | | | | | | | | | | | | | | | | | | | | | | | |
ECgene alternative splicing isoforms for TBX22
|
Expression
for TBX22 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
| TBX22 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TAAACAAATA
About this image
See TBX22 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TBX22
SOURCE GeneReport for Unigene cluster: Hs.374253
UniProtKB/Swiss-Prot: TBX22_HUMAN, Q9Y458Tissue specificity: Seems to be expressed at a low level
SABiosciences Custom PCR Arrays for TBX22
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TBX22
Browse OriGene validated miRNA SYBR primer pairs
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Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBX22 |
Orthologs
for TBX22 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
|
This gene was present in the common ancestor of animals.
Orthologs for TBX22 gene from 4/13 species (see all 13) About this table
| Organism |
Taxonomic
classification |
Gene |
Description |
Human
Similarity |
Orthology
Type |
Details |
chicken
(Gallus gallus) |
Aves |
TBX221 |
T-box 22 |
68.03(n)
68.65(a) |
|
373895 NM_204106.1 NP_989437.1 |
lizard
(Anolis carolinensis) |
Reptilia |
TBX226 |
-- |
68(a) |
1 ↔ 1 |
GL343528.1(62343-72968) |
zebrafish
(Danio rerio) |
Actinopterygii |
tbx226 |
T-box 22 |
36(a) |
1 ↔ 1 |
14(9562996-9572702) |
worm
(Caenorhabditis elegans) |
Secernentea |
mab-93 |
transcription regulator |
53(a) |
|
II(516155-521443) -- |
ENSEMBL Gene Tree for TBX22 (if available)
TreeFam Gene Tree for TBX22 (if available) |
Paralogs
for TBX22 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for TBX22 gene
- TBX12 TBX192 T2 EOMES2 TBX22 TBX62 TBX212 TBX32
- TBX202 TBX52 TBX102 TBX42 TBR12 TBX152 TBX182
8 SIMAP similar genes for TBX22 using alignment to 1 protein entry: TBX22_HUMAN:TBX18 TBX4 TBX15 TBX2 TBX10 TBX20
TBX1 TBX6
TBX22 for paralogs About GeneDecksing
|
Genomic Variants
for TBX22 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
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 TBX22 (79270255 - 79287268 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for TBX22: --
Human Gene Mutation Database (HGMD): TBX22
Locus Specific Mutation Databases (LSDB): TBX22
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TBX22 |
|
Disorders
/ Diseases
for TBX22 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
TBX22 for disorders About GeneDecksing
OMIM gene information: 300307
OMIM disorders: 303400
UniProtKB/Swiss-Prot: TBX22_HUMAN, Q9Y458
Defects in TBX22 are the cause of X-linked cleft palate with ankyloglossia (CPX) [MIM:303400]
8  diseases for TBX22: About MalaCardscleft palate with ankyloglossia cleft palate cleft lip/palate cleft lip
cleft lip +/- cleft palate pterygium pharyngitis alcoholism
2 diseases from the University of Copenhagen DISEASES database for TBX22:Cleft palate Cleft lip 2 Novoseek disease relationships for TBX22 gene About this table
Genetic Association Database (GAD): TBX22
Human Genome Epidemiology (HuGE) Navigator: TBX22 (5 documents)
Export disorders for TBX22 gene to outside databases
|
Publications
for TBX22 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 articles for TBX22 gene, integrated from 9 sources (see all 24):
(articles sorted by number of sources associating them with TBX22) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- TBX22 mutations are a frequent cause of cleft palate. (PubMed id 14729838)1, 2, 3 Marcano A.C.B....Stanier P. (2004)
- The T-box transcription factor gene TBX22 is mutated in X-linked cleft palate and ankyloglossia. (PubMed id 11559848)1, 2, 3 Braybrook C.... Stanier P. (2001)
- Craniofacial expression of human and murine TBX22 correlates with the cleft palate and ankyloglossia phenotype observed in CPX patients. (PubMed id 12374769)1, 2, 9 Braybrook C....Lindsay S. (2002)
- PAX9 and TGFB3 are linked to susceptibility to nonsyndromic cleft lip with or without cleft palate in the Japanese: population-based and family-based candidate gene analyses. (PubMed id 16247549)1, 4 Ichikawa E....Yoshiura K. (2006)
- The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (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)
- Molecular characterization of a new human T-box gene (TBX22) located in Xq21.1 encoding a protein containing a truncated T-domain. (PubMed id 11024289)1, 2 Laugier-Anfossi F. and Villard L. (2000)
- TBX22 mutations are a frequent cause of non-syndromic cleft palate in the Thai population. (PubMed id 17868388)1, 9 Suphapeetiporn K....Shotelersuk V. (2007)
- Cleft lip with cleft palate, ankyloglossia, and hypod ontia are associated with TBX22 mutations. (PubMed id 21248356)1 Kantaputra P.N....Stanier P. (2011)
- Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
|
External Searches for TBX22 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing TBX22 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing TBX22 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing TBX22 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 TBX22 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for TBX22 gene:
Search GeneIP for patents involving TBX22
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for TBX22 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 TBX22 | | | OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TBX22 | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TBX22 | | | OriGene Protein Over-expression Lysate for TBX22 | | Browse OriGene Fluorogenic Cell Assay Kits | | | OriGene siRNA for TBX22 | | Browse 3'-UTR reporter clones for miRNA target validation | | | OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TBX22 | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TBX22 | | | 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,
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| |  |  |  |  | | | | |
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 | | | TBX22 Proteins, Antibodies, CLIAs, and ELISAs |
| | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TBX22 |
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| | | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TBX22 |
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