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GBX2 (gastrulation brain homeobox 2)

Identity

Alias_namesgastrulation brain homeo box 2
Other alias-
HGNC (Hugo) GBX2
LocusID (NCBI) 2637
Atlas_Id 40693
Location 2q37.2  [Link to chromosome band 2q37]
Location_base_pair Starts at 236165236 and ends at 236168009 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)GBX2   4186
Cards
Entrez_Gene (NCBI)GBX2  2637  gastrulation brain homeobox 2
Aliases
GeneCards (Weizmann)GBX2
Ensembl hg19 (Hinxton)ENSG00000168505 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000168505 [Gene_View]  ENSG00000168505 [Sequence]  chr2:236165236-236168009 [Contig_View]  GBX2 [Vega]
ICGC DataPortalENSG00000168505
TCGA cBioPortalGBX2
AceView (NCBI)GBX2
Genatlas (Paris)GBX2
WikiGenes2637
SOURCE (Princeton)GBX2
Genetics Home Reference (NIH)GBX2
Genomic and cartography
GoldenPath hg38 (UCSC)GBX2  -     chr2:236165236-236168009 -  2q37.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GBX2  -     2q37.2   [Description]    (hg19-Feb_2009)
EnsemblGBX2 - 2q37.2 [CytoView hg19]  GBX2 - 2q37.2 [CytoView hg38]
Mapping of homologs : NCBIGBX2 [Mapview hg19]  GBX2 [Mapview hg38]
OMIM601135   
Gene and transcription
Genbank (Entrez)AA176205 AF118452 AK311262 BC137448 BC137449
RefSeq transcript (Entrez)NM_001301687 NM_001485
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GBX2
Cluster EST : UnigeneHs.735751 [ NCBI ]
CGAP (NCI)Hs.735751
Alternative Splicing GalleryENSG00000168505
Gene ExpressionGBX2 [ NCBI-GEO ]   GBX2 [ EBI - ARRAY_EXPRESS ]   GBX2 [ SEEK ]   GBX2 [ MEM ]
Gene Expression Viewer (FireBrowse)GBX2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2637
GTEX Portal (Tissue expression)GBX2
Human Protein AtlasENSG00000168505-GBX2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP52951   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP52951  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP52951
Splice isoforms : SwissVarP52951
PhosPhoSitePlusP52951
Domaine pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)   
Domains : Interpro (EBI)GBX-2    Homeobox-like_sf    Homeobox_CS    Homeobox_dom    Homeobox_metazoa   
Domain families : Pfam (Sanger)Homeobox (PF00046)   
Domain families : Pfam (NCBI)pfam00046   
Domain families : Smart (EMBL)HOX (SM00389)  
Conserved Domain (NCBI)GBX2
DMDM Disease mutations2637
Blocks (Seattle)GBX2
SuperfamilyP52951
Human Protein Atlas [tissue]ENSG00000168505-GBX2 [tissue]
Peptide AtlasP52951
HPRD03087
IPIIPI00006053   IPI01020826   
Protein Interaction databases
DIP (DOE-UCLA)P52951
IntAct (EBI)P52951
FunCoupENSG00000168505
BioGRIDGBX2
STRING (EMBL)GBX2
ZODIACGBX2
Ontologies - Pathways
QuickGOP52951
Ontology : AmiGORNA polymerase II core promoter sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  branching involved in blood vessel morphogenesis  neural crest cell migration  DNA-binding transcription factor activity  nucleus  nervous system development  axon guidance  cerebellum development  midbrain-hindbrain boundary morphogenesis  rhombomere 2 development  thalamus development  forebrain neuron development  cerebellar granule cell precursor proliferation  inner ear morphogenesis  positive regulation of transcription by RNA polymerase II  autonomic nervous system development  
Ontology : EGO-EBIRNA polymerase II core promoter sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription activator activity, RNA polymerase II-specific  branching involved in blood vessel morphogenesis  neural crest cell migration  DNA-binding transcription factor activity  nucleus  nervous system development  axon guidance  cerebellum development  midbrain-hindbrain boundary morphogenesis  rhombomere 2 development  thalamus development  forebrain neuron development  cerebellar granule cell precursor proliferation  inner ear morphogenesis  positive regulation of transcription by RNA polymerase II  autonomic nervous system development  
NDEx NetworkGBX2
Atlas of Cancer Signalling NetworkGBX2
Wikipedia pathwaysGBX2
Orthology - Evolution
OrthoDB2637
GeneTree (enSembl)ENSG00000168505
Phylogenetic Trees/Animal Genes : TreeFamGBX2
HOVERGENP52951
HOGENOMP52951
Homologs : HomoloGeneGBX2
Homology/Alignments : Family Browser (UCSC)GBX2
Gene fusions - Rearrangements
Fusion : QuiverGBX2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGBX2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GBX2
dbVarGBX2
ClinVarGBX2
1000_GenomesGBX2 
Exome Variant ServerGBX2
ExAC (Exome Aggregation Consortium)ENSG00000168505
GNOMAD BrowserENSG00000168505
Varsome BrowserGBX2
Genetic variants : HAPMAP2637
Genomic Variants (DGV)GBX2 [DGVbeta]
DECIPHERGBX2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGBX2 
Mutations
ICGC Data PortalGBX2 
TCGA Data PortalGBX2 
Broad Tumor PortalGBX2
OASIS PortalGBX2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGBX2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGBX2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch GBX2
DgiDB (Drug Gene Interaction Database)GBX2
DoCM (Curated mutations)GBX2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GBX2 (select a term)
intoGenGBX2
Cancer3DGBX2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601135   
Orphanet
DisGeNETGBX2
MedgenGBX2
Genetic Testing Registry GBX2
NextProtP52951 [Medical]
TSGene2637
GENETestsGBX2
Target ValidationGBX2
Huge Navigator GBX2 [HugePedia]
snp3D : Map Gene to Disease2637
BioCentury BCIQGBX2
ClinGenGBX2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2637
Chemical/Pharm GKB GenePA28600
Clinical trialGBX2
Miscellaneous
canSAR (ICR)GBX2 (select the gene name)
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGBX2
EVEXGBX2
GoPubMedGBX2
iHOPGBX2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 6 11:08:02 CET 2018

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