Atlas of Genetics and Cytogenetics in Oncology and Haematology


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TBX22 (T-box transcription factor 22)

Identity

Alias (NCBI)ABERS
CLPA
CPX
TBXX
dJ795G23.1
HGNC (Hugo) TBX22
HGNC Previous nameCPX
 CLPA
HGNC Previous namecleft palate and/or ankyloglossia
LocusID (NCBI) 50945
Atlas_Id 74554
Location Xq21.1  [Link to chromosome band Xq21]
Location_base_pair Starts at 80022243 and ends at 80031769 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)TBX22   11600
Cards
Entrez_Gene (NCBI)TBX22    T-box transcription factor 22
AliasesABERS; CLPA; CPX; TBXX; 
dJ795G23.1
GeneCards (Weizmann)TBX22
Ensembl hg19 (Hinxton)ENSG00000122145 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000122145 [Gene_View]  ENSG00000122145 [Sequence]  chrX:80022243-80031769 [Contig_View]  TBX22 [Vega]
ICGC DataPortalENSG00000122145
TCGA cBioPortalTBX22
AceView (NCBI)TBX22
Genatlas (Paris)TBX22
SOURCE (Princeton)TBX22
Genetics Home Reference (NIH)TBX22
Genomic and cartography
GoldenPath hg38 (UCSC)TBX22  -     chrX:80022243-80031769 +  Xq21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TBX22  -     Xq21.1   [Description]    (hg19-Feb_2009)
GoldenPathTBX22 - Xq21.1 [CytoView hg19]  TBX22 - Xq21.1 [CytoView hg38]
ImmunoBaseENSG00000122145
Genome Data Viewer NCBITBX22 [Mapview hg19]  
OMIM300307   302905   303400   
Gene and transcription
Genbank (Entrez)AF251684 AK097514 AW104387 AY035371 BC014194
RefSeq transcript (Entrez)NM_001109878 NM_001109879 NM_001303475 NM_016954
Consensus coding sequences : CCDS (NCBI)TBX22
Gene ExpressionTBX22 [ NCBI-GEO ]   TBX22 [ EBI - ARRAY_EXPRESS ]   TBX22 [ SEEK ]   TBX22 [ MEM ]
Gene Expression Viewer (FireBrowse)TBX22 [ Firebrowse - Broad ]
GenevisibleExpression of TBX22 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)50945
GTEX Portal (Tissue expression)TBX22
Human Protein AtlasENSG00000122145-TBX22 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y458   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y458  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y458
PhosPhoSitePlusQ9Y458
Domaine pattern : Prosite (Expaxy)TBOX_1 (PS01283)    TBOX_2 (PS01264)    TBOX_3 (PS50252)   
Domains : Interpro (EBI)p53-like_TF_DNA-bd    T-box_sf    TF_T-box    TF_T-box_CS   
Domain families : Pfam (Sanger)T-box (PF00907)   
Domain families : Pfam (NCBI)pfam00907   
Domain families : Smart (EMBL)TBOX (SM00425)  
Conserved Domain (NCBI)TBX22
SuperfamilyQ9Y458
AlphaFold pdb e-kbQ9Y458   
Human Protein Atlas [tissue]ENSG00000122145-TBX22 [tissue]
HPRD02253
Protein Interaction databases
DIP (DOE-UCLA)Q9Y458
IntAct (EBI)Q9Y458
BioGRIDTBX22
STRING (EMBL)TBX22
ZODIACTBX22
Ontologies - Pathways
QuickGOQ9Y458
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  chromatin  RNA polymerase II transcription regulatory region sequence-specific DNA binding  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  cell fate specification  heart looping  DNA binding  DNA-binding transcription factor activity  protein binding  nucleus  regulation of transcription, DNA-templated  regulation of transcription by RNA polymerase II  multicellular organism development  negative regulation of transcription, DNA-templated  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  chromatin  RNA polymerase II transcription regulatory region sequence-specific DNA binding  RNA polymerase II cis-regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  cell fate specification  heart looping  DNA binding  DNA-binding transcription factor activity  protein binding  nucleus  regulation of transcription, DNA-templated  regulation of transcription by RNA polymerase II  multicellular organism development  negative regulation of transcription, DNA-templated  
NDEx NetworkTBX22
Atlas of Cancer Signalling NetworkTBX22
Wikipedia pathwaysTBX22
Orthology - Evolution
OrthoDB50945
GeneTree (enSembl)ENSG00000122145
Phylogenetic Trees/Animal Genes : TreeFamTBX22
Homologs : HomoloGeneTBX22
Homology/Alignments : Family Browser (UCSC)TBX22
Gene fusions - Rearrangements
Fusion : QuiverTBX22
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBX22 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBX22
dbVarTBX22
ClinVarTBX22
MonarchTBX22
1000_GenomesTBX22 
Exome Variant ServerTBX22
GNOMAD BrowserENSG00000122145
Varsome BrowserTBX22
ACMGTBX22 variants
VarityQ9Y458
Genomic Variants (DGV)TBX22 [DGVbeta]
DECIPHERTBX22 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTBX22 
Mutations
ICGC Data PortalTBX22 
TCGA Data PortalTBX22 
Broad Tumor PortalTBX22
OASIS PortalTBX22 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTBX22  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTBX22
Mutations and Diseases : HGMDTBX22
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTBX22
DgiDB (Drug Gene Interaction Database)TBX22
DoCM (Curated mutations)TBX22
CIViC (Clinical Interpretations of Variants in Cancer)TBX22
Cancer3DTBX22
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300307    302905    303400   
Orphanet1248    21791   
DisGeNETTBX22
MedgenTBX22
Genetic Testing Registry TBX22
NextProtQ9Y458 [Medical]
GENETestsTBX22
Target ValidationTBX22
Huge Navigator TBX22 [HugePedia]
ClinGenTBX22
Clinical trials, drugs, therapy
MyCancerGenomeTBX22
Protein Interactions : CTDTBX22
Pharm GKB GenePA36363
PharosQ9Y458
Clinical trialTBX22
Miscellaneous
canSAR (ICR)TBX22
HarmonizomeTBX22
DataMed IndexTBX22
Probes
Litterature
PubMed41 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTBX22
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 16:25:00 CEST 2021

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