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IRX2 (iroquois homeobox 2)

Identity

Other aliasIRXA2
HGNC (Hugo) IRX2
LocusID (NCBI) 153572
Atlas_Id 45962
Location 5p15.33  [Link to chromosome band 5p15]
Location_base_pair Starts at 2746165 and ends at 2751655 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)
ARFRP1 (20q13.33) / IRX2 (5p15.33)IRX2 (5p15.33) / TERT (5p15.33)

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  del(5)(p15p15) IRX2/TERT


External links

Nomenclature
HGNC (Hugo)IRX2   14359
Cards
Entrez_Gene (NCBI)IRX2  153572  iroquois homeobox 2
AliasesIRXA2
GeneCards (Weizmann)IRX2
Ensembl hg19 (Hinxton)ENSG00000170561 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000170561 [Gene_View]  ENSG00000170561 [Sequence]  chr5:2746165-2751655 [Contig_View]  IRX2 [Vega]
ICGC DataPortalENSG00000170561
TCGA cBioPortalIRX2
AceView (NCBI)IRX2
Genatlas (Paris)IRX2
WikiGenes153572
SOURCE (Princeton)IRX2
Genetics Home Reference (NIH)IRX2
Genomic and cartography
GoldenPath hg38 (UCSC)IRX2  -     chr5:2746165-2751655 -  5p15.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)IRX2  -     5p15.33   [Description]    (hg19-Feb_2009)
EnsemblIRX2 - 5p15.33 [CytoView hg19]  IRX2 - 5p15.33 [CytoView hg38]
Mapping of homologs : NCBIIRX2 [Mapview hg19]  IRX2 [Mapview hg38]
OMIM606198   
Gene and transcription
Genbank (Entrez)AB188492 AI131378 AI928035 AY335940 BC065189
RefSeq transcript (Entrez)NM_001134222 NM_033267
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)IRX2
Cluster EST : UnigeneHs.282089 [ NCBI ]
CGAP (NCI)Hs.282089
Alternative Splicing GalleryENSG00000170561
Gene ExpressionIRX2 [ NCBI-GEO ]   IRX2 [ EBI - ARRAY_EXPRESS ]   IRX2 [ SEEK ]   IRX2 [ MEM ]
Gene Expression Viewer (FireBrowse)IRX2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)153572
GTEX Portal (Tissue expression)IRX2
Human Protein AtlasENSG00000170561-IRX2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BZI1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BZI1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BZI1
Splice isoforms : SwissVarQ9BZI1
PhosPhoSitePlusQ9BZI1
Domaine pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)   
Domains : Interpro (EBI)Homeobox-like_sf    Homeobox_CS    Homeobox_dom    Homeobox_KN_domain    Iroquois_homeo   
Domain families : Pfam (Sanger)Homeobox_KN (PF05920)   
Domain families : Pfam (NCBI)pfam05920   
Domain families : Smart (EMBL)HOX (SM00389)  IRO (SM00548)  
Conserved Domain (NCBI)IRX2
DMDM Disease mutations153572
Blocks (Seattle)IRX2
SuperfamilyQ9BZI1
Human Protein Atlas [tissue]ENSG00000170561-IRX2 [tissue]
Peptide AtlasQ9BZI1
HPRD09368
IPIIPI00395326   IPI00967829   
Protein Interaction databases
DIP (DOE-UCLA)Q9BZI1
IntAct (EBI)Q9BZI1
FunCoupENSG00000170561
BioGRIDIRX2
STRING (EMBL)IRX2
ZODIACIRX2
Ontologies - Pathways
QuickGOQ9BZI1
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  RNA polymerase II transcription factor activity, sequence-specific DNA binding  RNA polymerase II transcription factor activity, sequence-specific DNA binding  RNA polymerase II transcription factor activity, sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding  nucleus  sequence-specific DNA binding  specification of loop of Henle identity  proximal/distal pattern formation involved in metanephric nephron development  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  RNA polymerase II transcription factor activity, sequence-specific DNA binding  RNA polymerase II transcription factor activity, sequence-specific DNA binding  RNA polymerase II transcription factor activity, sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding  nucleus  sequence-specific DNA binding  specification of loop of Henle identity  proximal/distal pattern formation involved in metanephric nephron development  
NDEx NetworkIRX2
Atlas of Cancer Signalling NetworkIRX2
Wikipedia pathwaysIRX2
Orthology - Evolution
OrthoDB153572
GeneTree (enSembl)ENSG00000170561
Phylogenetic Trees/Animal Genes : TreeFamIRX2
HOVERGENQ9BZI1
HOGENOMQ9BZI1
Homologs : HomoloGeneIRX2
Homology/Alignments : Family Browser (UCSC)IRX2
Gene fusions - Rearrangements
Fusion : QuiverIRX2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerIRX2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)IRX2
dbVarIRX2
ClinVarIRX2
1000_GenomesIRX2 
Exome Variant ServerIRX2
ExAC (Exome Aggregation Consortium)ENSG00000170561
GNOMAD BrowserENSG00000170561
Varsome BrowserIRX2
Genetic variants : HAPMAP153572
Genomic Variants (DGV)IRX2 [DGVbeta]
DECIPHERIRX2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisIRX2 
Mutations
ICGC Data PortalIRX2 
TCGA Data PortalIRX2 
Broad Tumor PortalIRX2
OASIS PortalIRX2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICIRX2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDIRX2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch IRX2
DgiDB (Drug Gene Interaction Database)IRX2
DoCM (Curated mutations)IRX2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)IRX2 (select a term)
intoGenIRX2
Cancer3DIRX2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606198   
Orphanet23715   
DisGeNETIRX2
MedgenIRX2
Genetic Testing Registry IRX2
NextProtQ9BZI1 [Medical]
TSGene153572
GENETestsIRX2
Target ValidationIRX2
Huge Navigator IRX2 [HugePedia]
snp3D : Map Gene to Disease153572
BioCentury BCIQIRX2
ClinGenIRX2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD153572
Chemical/Pharm GKB GenePA29925
Clinical trialIRX2
Miscellaneous
canSAR (ICR)IRX2 (select the gene name)
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineIRX2
EVEXIRX2
GoPubMedIRX2
iHOPIRX2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Aug 27 11:29:37 CEST 2018

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