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PHOX2A (paired like homeobox 2a)

Identity

Alias_namesARIX
FEOM2
aristaless (Drosophila) homeobox, aristaless homeobox (Drosophila), fibrosis of extraocular muscles, congenital, 2, autosomal recessive
paired-like (aristaless) homeobox 2a
Alias_symbol (synonym)PMX2A
CFEOM2
Other aliasNCAM2
HGNC (Hugo) PHOX2A
LocusID (NCBI) 401
Atlas_Id 51122
Location 11q13.4  [Link to chromosome band 11q13]
Location_base_pair Starts at 71950121 and ends at 71955220 bp from pter ( according to hg19-Feb_2009)

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)PHOX2A   691
Cards
Entrez_Gene (NCBI)PHOX2A  401  paired like homeobox 2a
AliasesARIX; CFEOM2; FEOM2; NCAM2; 
PMX2A
GeneCards (Weizmann)PHOX2A
Ensembl hg19 (Hinxton)ENSG00000165462 [Gene_View]  chr11:71950121-71955220 [Contig_View]  PHOX2A [Vega]
Ensembl hg38 (Hinxton)ENSG00000165462 [Gene_View]  chr11:71950121-71955220 [Contig_View]  PHOX2A [Vega]
ICGC DataPortalENSG00000165462
TCGA cBioPortalPHOX2A
AceView (NCBI)PHOX2A
Genatlas (Paris)PHOX2A
WikiGenes401
SOURCE (Princeton)PHOX2A
Genetics Home Reference (NIH)PHOX2A
Genomic and cartography
GoldenPath hg19 (UCSC)PHOX2A  -     chr11:71950121-71955220 -  11q13.4   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PHOX2A  -     11q13.4   [Description]    (hg38-Dec_2013)
EnsemblPHOX2A - 11q13.4 [CytoView hg19]  PHOX2A - 11q13.4 [CytoView hg38]
Mapping of homologs : NCBIPHOX2A [Mapview hg19]  PHOX2A [Mapview hg38]
OMIM602078   602753   
Gene and transcription
Genbank (Entrez)AK290645 BC041564 BQ890461 EU446462
RefSeq transcript (Entrez)NM_005169
RefSeq genomic (Entrez)NC_000011 NC_018922 NG_008169 NT_167190 NW_004929380
Consensus coding sequences : CCDS (NCBI)PHOX2A
Cluster EST : UnigeneHs.731115 [ NCBI ]
CGAP (NCI)Hs.731115
Alternative Splicing GalleryENSG00000165462
Gene ExpressionPHOX2A [ NCBI-GEO ]   PHOX2A [ EBI - ARRAY_EXPRESS ]   PHOX2A [ SEEK ]   PHOX2A [ MEM ]
Gene Expression Viewer (FireBrowse)PHOX2A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)401
GTEX Portal (Tissue expression)PHOX2A
Protein : pattern, domain, 3D structure
UniProt/SwissProtO14813   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO14813  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO14813
Splice isoforms : SwissVarO14813
PhosPhoSitePlusO14813
Domaine pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)   
Domains : Interpro (EBI)Homeobox_CS    Homeobox_dom    Homeodomain-like   
Domain families : Pfam (Sanger)Homeobox (PF00046)   
Domain families : Pfam (NCBI)pfam00046   
Domain families : Smart (EMBL)HOX (SM00389)  
Conserved Domain (NCBI)PHOX2A
DMDM Disease mutations401
Blocks (Seattle)PHOX2A
SuperfamilyO14813
Human Protein AtlasENSG00000165462
Peptide AtlasO14813
HPRD04129
IPIIPI00024171   IPI01010428   
Protein Interaction databases
DIP (DOE-UCLA)O14813
IntAct (EBI)O14813
FunCoupENSG00000165462
BioGRIDPHOX2A
STRING (EMBL)PHOX2A
ZODIACPHOX2A
Ontologies - Pathways
QuickGOO14813
Ontology : AmiGOnuclear chromatin  RNA polymerase II regulatory region sequence-specific DNA binding  noradrenergic neuron differentiation  noradrenergic neuron differentiation  transcription factor activity, sequence-specific DNA binding  transcription, DNA-templated  somatic motor neuron differentiation  oculomotor nerve formation  trochlear nerve formation  locus ceruleus development  midbrain development  regulation of respiratory gaseous exchange  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  sympathetic nervous system development  dopaminergic neuron differentiation  
Ontology : EGO-EBInuclear chromatin  RNA polymerase II regulatory region sequence-specific DNA binding  noradrenergic neuron differentiation  noradrenergic neuron differentiation  transcription factor activity, sequence-specific DNA binding  transcription, DNA-templated  somatic motor neuron differentiation  oculomotor nerve formation  trochlear nerve formation  locus ceruleus development  midbrain development  regulation of respiratory gaseous exchange  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  sympathetic nervous system development  dopaminergic neuron differentiation  
NDEx NetworkPHOX2A
Atlas of Cancer Signalling NetworkPHOX2A
Wikipedia pathwaysPHOX2A
Orthology - Evolution
OrthoDB401
GeneTree (enSembl)ENSG00000165462
Phylogenetic Trees/Animal Genes : TreeFamPHOX2A
HOVERGENO14813
HOGENOMO14813
Homologs : HomoloGenePHOX2A
Homology/Alignments : Family Browser (UCSC)PHOX2A
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPHOX2A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PHOX2A
dbVarPHOX2A
ClinVarPHOX2A
1000_GenomesPHOX2A 
Exome Variant ServerPHOX2A
ExAC (Exome Aggregation Consortium)PHOX2A (select the gene name)
Genetic variants : HAPMAP401
Genomic Variants (DGV)PHOX2A [DGVbeta]
DECIPHER (Syndromes)11:71950121-71955220  ENSG00000165462
CONAN: Copy Number AnalysisPHOX2A 
Mutations
ICGC Data PortalPHOX2A 
TCGA Data PortalPHOX2A 
Broad Tumor PortalPHOX2A
OASIS PortalPHOX2A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPHOX2A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPHOX2A
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PHOX2A
DgiDB (Drug Gene Interaction Database)PHOX2A
DoCM (Curated mutations)PHOX2A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PHOX2A (select a term)
intoGenPHOX2A
Cancer3DPHOX2A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602078    602753   
Orphanet10586   
MedgenPHOX2A
Genetic Testing Registry PHOX2A
NextProtO14813 [Medical]
TSGene401
GENETestsPHOX2A
Huge Navigator PHOX2A [HugePedia]
snp3D : Map Gene to Disease401
BioCentury BCIQPHOX2A
ClinGenPHOX2A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD401
Chemical/Pharm GKB GenePA28093
Clinical trialPHOX2A
Miscellaneous
canSAR (ICR)PHOX2A (select the gene name)
Probes
Litterature
PubMed32 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePHOX2A
EVEXPHOX2A
GoPubMedPHOX2A
iHOPPHOX2A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 13:21:16 CET 2017

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