Atlas of Genetics and Cytogenetics in Oncology and Haematology


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PHOX2A (paired like homeobox 2A)

Identity

Alias (NCBI)ARIX
CFEOM2
FEOM2
NCAM2
PMX2A
HGNC (Hugo) PHOX2A
HGNC Alias symbPMX2A
CFEOM2
HGNC Previous nameARIX
 FEOM2
HGNC Previous namearistaless (Drosophila) homeobox, aristaless homeobox (Drosophila), fibrosis of extraocular muscles, congenital, 2, autosomal recessive
 paired-like (aristaless) homeobox 2a
 paired like homeobox 2a
LocusID (NCBI) 401
Atlas_Id 51122
Location 11q13.4  [Link to chromosome band 11q13]
Location_base_pair Starts at 72239077 and ends at 72244176 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)PHOX2A   691
Cards
Entrez_Gene (NCBI)PHOX2A    paired like homeobox 2A
AliasesARIX; CFEOM2; FEOM2; NCAM2; 
PMX2A
GeneCards (Weizmann)PHOX2A
Ensembl hg19 (Hinxton)ENSG00000165462 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000165462 [Gene_View]  ENSG00000165462 [Sequence]  chr11:72239077-72244176 [Contig_View]  PHOX2A [Vega]
ICGC DataPortalENSG00000165462
TCGA cBioPortalPHOX2A
AceView (NCBI)PHOX2A
Genatlas (Paris)PHOX2A
SOURCE (Princeton)PHOX2A
Genetics Home Reference (NIH)PHOX2A
Genomic and cartography
GoldenPath hg38 (UCSC)PHOX2A  -     chr11:72239077-72244176 -  11q13.4   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PHOX2A  -     11q13.4   [Description]    (hg19-Feb_2009)
GoldenPathPHOX2A - 11q13.4 [CytoView hg19]  PHOX2A - 11q13.4 [CytoView hg38]
ImmunoBaseENSG00000165462
genome Data Viewer NCBIPHOX2A [Mapview hg19]  
OMIM602078   602753   
Gene and transcription
Genbank (Entrez)AK290645 BC041564 BQ890461
RefSeq transcript (Entrez)NM_005169
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PHOX2A
Alternative Splicing GalleryENSG00000165462
Gene ExpressionPHOX2A [ NCBI-GEO ]   PHOX2A [ EBI - ARRAY_EXPRESS ]   PHOX2A [ SEEK ]   PHOX2A [ MEM ]
Gene Expression Viewer (FireBrowse)PHOX2A [ Firebrowse - Broad ]
GenevisibleExpression of PHOX2A in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)401
GTEX Portal (Tissue expression)PHOX2A
Human Protein AtlasENSG00000165462-PHOX2A [pathology]   [cell]   [tissue]
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-like_sf    Homeobox_CS    Homeobox_dom   
Domain families : Pfam (Sanger)Homeodomain (PF00046)   
Domain families : Pfam (NCBI)pfam00046   
Domain families : Smart (EMBL)HOX (SM00389)  
Conserved Domain (NCBI)PHOX2A
Blocks (Seattle)PHOX2A
SuperfamilyO14813
Human Protein Atlas [tissue]ENSG00000165462-PHOX2A [tissue]
Peptide AtlasO14813
HPRD04129
IPIIPI00024171   IPI01010428   
Protein Interaction databases
DIP (DOE-UCLA)O14813
IntAct (EBI)O14813
BioGRIDPHOX2A
STRING (EMBL)PHOX2A
ZODIACPHOX2A
Ontologies - Pathways
QuickGOO14813
Ontology : AmiGOnuclear chromatin  nuclear chromatin  RNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II regulatory region 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 factor activity, RNA polymerase II-specific  noradrenergic neuron differentiation  noradrenergic neuron differentiation  DNA-binding transcription factor activity  nucleus  nervous system development  somatic motor neuron differentiation  oculomotor nerve formation  trochlear nerve formation  locus ceruleus development  midbrain development  regulation of respiratory gaseous exchange  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  autonomic nervous system development  enteric nervous system development  sympathetic nervous system development  dopaminergic neuron differentiation  
Ontology : EGO-EBInuclear chromatin  nuclear chromatin  RNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II regulatory region 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 factor activity, RNA polymerase II-specific  noradrenergic neuron differentiation  noradrenergic neuron differentiation  DNA-binding transcription factor activity  nucleus  nervous system development  somatic motor neuron differentiation  oculomotor nerve formation  trochlear nerve formation  locus ceruleus development  midbrain development  regulation of respiratory gaseous exchange  positive regulation of transcription by RNA polymerase II  positive regulation of transcription by RNA polymerase II  autonomic nervous system development  enteric nervous system development  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
HOGENOMO14813
Homologs : HomoloGenePHOX2A
Homology/Alignments : Family Browser (UCSC)PHOX2A
Gene fusions - Rearrangements
Fusion : QuiverPHOX2A
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPHOX2A [hg38]
dbVarPHOX2A
ClinVarPHOX2A
MonarchPHOX2A
1000_GenomesPHOX2A 
Exome Variant ServerPHOX2A
GNOMAD BrowserENSG00000165462
Varsome BrowserPHOX2A
Genomic Variants (DGV)PHOX2A [DGVbeta]
DECIPHERPHOX2A [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DPHOX2A
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] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602078    602753   
Orphanet10586   
DisGeNETPHOX2A
MedgenPHOX2A
Genetic Testing Registry PHOX2A
NextProtO14813 [Medical]
GENETestsPHOX2A
Target ValidationPHOX2A
Huge Navigator PHOX2A [HugePedia]
ClinGenPHOX2A
Clinical trials, drugs, therapy
MyCancerGenomePHOX2A
Protein Interactions : CTD
Pharm GKB GenePA28093
PharosO14813
Clinical trialPHOX2A
Miscellaneous
canSAR (ICR)PHOX2A (select the gene name)
HarmonizomePHOX2A
DataMed IndexPHOX2A
Probes
Litterature
PubMed35 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPHOX2A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Jan 1 18:31:19 CET 2021

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