Atlas of Genetics and Cytogenetics in Oncology and Haematology


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TBX4 (T-box transcription factor 4)

Identity

Alias (NCBI)ICPPS
PAPPAS
SPS
HGNC (Hugo) TBX4
LocusID (NCBI) 9496
Atlas_Id 74556
Location 17q23.2  [Link to chromosome band 17q23]
Location_base_pair Starts at 61456488 and ends at 61485110 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)
TBX4 (17q23.2) / LUC7L2 (7q34)TBX4 (17q23.2) / TBX4 (17q23.2)TRIM25 (17q22) / TBX4 (17q23.2)

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)TBX4   11603
Cards
Entrez_Gene (NCBI)TBX4    T-box transcription factor 4
AliasesICPPS; PAPPAS; SPS
GeneCards (Weizmann)TBX4
Ensembl hg19 (Hinxton)ENSG00000121075 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000121075 [Gene_View]  ENSG00000121075 [Sequence]  chr17:61456488-61485110 [Contig_View]  TBX4 [Vega]
ICGC DataPortalENSG00000121075
TCGA cBioPortalTBX4
AceView (NCBI)TBX4
Genatlas (Paris)TBX4
SOURCE (Princeton)TBX4
Genetics Home Reference (NIH)TBX4
Genomic and cartography
GoldenPath hg38 (UCSC)TBX4  -     chr17:61456488-61485110 +  17q23.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)TBX4  -     17q23.2   [Description]    (hg19-Feb_2009)
GoldenPathTBX4 - 17q23.2 [CytoView hg19]  TBX4 - 17q23.2 [CytoView hg38]
ImmunoBaseENSG00000121075
Genome Data Viewer NCBITBX4 [Mapview hg19]  
OMIM147891   601360   601719   
Gene and transcription
Genbank (Entrez)AF188703 AK310312 BC136403 BC142620 BC144062
RefSeq transcript (Entrez)NM_001321120 NM_018488
Consensus coding sequences : CCDS (NCBI)TBX4
Gene ExpressionTBX4 [ NCBI-GEO ]   TBX4 [ EBI - ARRAY_EXPRESS ]   TBX4 [ SEEK ]   TBX4 [ MEM ]
Gene Expression Viewer (FireBrowse)TBX4 [ Firebrowse - Broad ]
GenevisibleExpression of TBX4 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9496
GTEX Portal (Tissue expression)TBX4
Human Protein AtlasENSG00000121075-TBX4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP57082   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP57082  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP57082
PhosPhoSitePlusP57082
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)TBX4
SuperfamilyP57082
AlphaFold pdb e-kbP57082   
Human Protein Atlas [tissue]ENSG00000121075-TBX4 [tissue]
HPRD03424
Protein Interaction databases
DIP (DOE-UCLA)P57082
IntAct (EBI)P57082
BioGRIDTBX4
STRING (EMBL)TBX4
ZODIACTBX4
Ontologies - Pathways
QuickGOP57082
Ontology : AmiGOchromatin  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  angiogenesis  cell fate specification  morphogenesis of an epithelium  DNA binding  DNA-binding transcription factor activity  nucleus  regulation of transcription, DNA-templated  regulation of transcription by RNA polymerase II  multicellular organism development  lung development  embryonic limb morphogenesis  limb morphogenesis  embryonic hindlimb morphogenesis  skeletal system morphogenesis  embryonic lung development  
Ontology : EGO-EBIchromatin  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  angiogenesis  cell fate specification  morphogenesis of an epithelium  DNA binding  DNA-binding transcription factor activity  nucleus  regulation of transcription, DNA-templated  regulation of transcription by RNA polymerase II  multicellular organism development  lung development  embryonic limb morphogenesis  limb morphogenesis  embryonic hindlimb morphogenesis  skeletal system morphogenesis  embryonic lung development  
NDEx NetworkTBX4
Atlas of Cancer Signalling NetworkTBX4
Wikipedia pathwaysTBX4
Orthology - Evolution
OrthoDB9496
GeneTree (enSembl)ENSG00000121075
Phylogenetic Trees/Animal Genes : TreeFamTBX4
Homologs : HomoloGeneTBX4
Homology/Alignments : Family Browser (UCSC)TBX4
Gene fusions - Rearrangements
Fusion : QuiverTBX4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerTBX4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TBX4
dbVarTBX4
ClinVarTBX4
MonarchTBX4
1000_GenomesTBX4 
Exome Variant ServerTBX4
GNOMAD BrowserENSG00000121075
Varsome BrowserTBX4
ACMGTBX4 variants
VarityP57082
Genomic Variants (DGV)TBX4 [DGVbeta]
DECIPHERTBX4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisTBX4 
Mutations
ICGC Data PortalTBX4 
TCGA Data PortalTBX4 
Broad Tumor PortalTBX4
OASIS PortalTBX4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTBX4  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DTBX4
Mutations and Diseases : HGMDTBX4
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaTBX4
DgiDB (Drug Gene Interaction Database)TBX4
DoCM (Curated mutations)TBX4
CIViC (Clinical Interpretations of Variants in Cancer)TBX4
Cancer3DTBX4
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM147891    601360    601719   
Orphanet1676    19868    20328    19278   
DisGeNETTBX4
MedgenTBX4
Genetic Testing Registry TBX4
NextProtP57082 [Medical]
GENETestsTBX4
Target ValidationTBX4
Huge Navigator TBX4 [HugePedia]
ClinGenTBX4
Clinical trials, drugs, therapy
MyCancerGenomeTBX4
Protein Interactions : CTDTBX4
Pharm GKB GenePA36366
PharosP57082
Clinical trialTBX4
Miscellaneous
canSAR (ICR)TBX4
HarmonizomeTBX4
DataMed IndexTBX4
Probes
Litterature
PubMed37 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXTBX4
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 16:25:01 CEST 2021

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