Atlas of Genetics and Cytogenetics in Oncology and Haematology

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PHOX2B (paired-like homeobox 2b)

Identity

Other namesNBLST2
NBPhox
PMX2B
HGNC (Hugo) PHOX2B
LocusID (NCBI) 8929
Location 4p13
Location_base_pair Starts at 41746099 and ends at 41750987 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)PHOX2B   9143
Entrez_Gene (NCBI)PHOX2B  8929  paired-like homeobox 2b
Cards
GeneCards (Weizmann)PHOX2B
Ensembl (Hinxton)ENSG00000109132 [Gene_View]  chr4:41746099-41750987 [Contig_View]  PHOX2B [Vega]
AceView (NCBI)PHOX2B
Genatlas (Paris)PHOX2B
SOURCE (Stanford)NM_003924
Genomic and cartography
GoldenPath (UCSC)PHOX2B  -  4p13   chr4:41746099-41750987 -  4p13   [Description]    (hg19-Feb_2009)
EnsemblPHOX2B - 4p13 [CytoView]
Mapping of homologs : NCBIPHOX2B [Mapview]
OMIM142623   209880   256700   603851   613013   
Gene and transcription
Genbank (Entrez)AI266171 BC017199 D82344
RefSeq transcript (SRS)NM_003924
RefSeq transcript (Entrez)NM_003924
RefSeq genomic (SRS)AC_000136 NC_000004 NC_018915 NG_008243 NT_006238 NW_001838903 NW_004078018
RefSeq genomic (Entrez)AC_000136 NC_000004 NC_018915 NG_008243 NT_006238 NW_001838903 NW_004078018
Consensus coding sequences : CCDS (NCBI)PHOX2B
Cluster EST : UnigeneHs.87202 [ SRS ] Hs.87202 [ NCBI ]
CGAP (NCI)Hs.87202
Alternative Splicing : Fast-db (Paris)GSHG0023219
Alternative Splicing GalleryENSG00000109132
Gene ExpressionPHOX2B [ NCBI-GEO ]   PHOX2B [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ99453 (SRS) Q99453 (Uniprot)
NextProtQ99453
With graphics : InterProQ99453
Splice isoforms : SwissVarQ99453(Swissvar)
Domaine pattern : Prosite (SRS)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)   
Domaine pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)   
Domains : Interpro (SRS)Homeobox_CS    Homeodomain    Homeodomain-like   
Domains : Interpro (EBI)Homeobox_CS    Homeodomain    Homeodomain-like   
Related proteins : CluSTrQ99453
Domain families : Pfam (SRS)Homeobox (PF00046)   
Domain families : Pfam (Sanger)Homeobox (PF00046)   
Domain families : Pfam (NCBI)pfam00046   
Domain families : Smart (EMBL)HOX (SM00389)  
DMDM8929
Blocks (Seattle)Q99453
Human Protein AtlasENSG00000109132
HPRD09157
IPIIPI00293143   IPI00966807   
Protein Interaction databases
DIP (DOE-UCLA)Q99453
IntAct (EBI)Q99453
FunCoupENSG00000109132
REACTOMEPHOX2B
Protein Interaction Database8929
BioGRIDPHOX2B
InParanoidQ99453
Interologous Interaction database Q99453
IntegromeDBPHOX2B
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)PHOX2B
SNP (GeneSNP Utah)PHOX2B
SNP : HGBasePHOX2B
Genetic variants : HAPMAPPHOX2B
Cancer Gene: CensusPHOX2B 
Somatic Mutations in Cancer : COSMICPHOX2B 
CONAN: Copy Number AnalysisPHOX2B 
Mutations and Diseases : HGMDPHOX2B
OMIM142623    209880    256700    603851    613013   
GENETests142623    209880    256700    603851    613013   
Disease Genetic AssociationPHOX2B
Huge Navigator PHOX2B [HugePedia]  PHOX2B [HugeCancerGEM]
Genomic VariantsPHOX2B  PHOX2B [DGVbeta]
snp3D : Map Gene to Disease8929
General knowledge
Homologs : HomoloGenePHOX2B
Homology/Alignments : Family Browser (UCSC)PHOX2B
Phylogenetic Trees/Animal Genes : TreeFamPHOX2B
Chemical/Protein Interactions : CTD8929
Chemical/Pharm GKB GenePA33467
Clinical trialPHOX2B
Cancer Resource (Charite)ENSG00000109132
Ontology : AmiGOnuclear chromatin  RNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II core promoter proximal region sequence-specific DNA binding  neuron migration  regulation of respiratory gaseous exchange by neurological system process  noradrenergic neuron differentiation  noradrenergic neuron differentiation  brainstem development  sequence-specific DNA binding transcription factor activity  transcription, DNA-dependent  negative regulation of cell proliferation  glial cell differentiation  cell differentiation in hindbrain  medullary reticular formation development  hindbrain tangential cell migration  negative regulation of neuron differentiation  positive regulation of neuron differentiation  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  autonomic nervous system development  enteric nervous system development  sympathetic nervous system development  parasympathetic nervous system development  inner ear development  efferent axon development in a lateral line nerve  respiratory system development  retrotrapezoid nucleus neuron differentiation  dopaminergic neuron differentiation  dopaminergic neuron differentiation  cellular response to BMP stimulus  neural crest cell migration involved in autonomic nervous system development  
Ontology : EGO-EBInuclear chromatin  RNA polymerase II regulatory region sequence-specific DNA binding  RNA polymerase II core promoter proximal region sequence-specific DNA binding  neuron migration  regulation of respiratory gaseous exchange by neurological system process  noradrenergic neuron differentiation  noradrenergic neuron differentiation  brainstem development  sequence-specific DNA binding transcription factor activity  transcription, DNA-dependent  negative regulation of cell proliferation  glial cell differentiation  cell differentiation in hindbrain  medullary reticular formation development  hindbrain tangential cell migration  negative regulation of neuron differentiation  positive regulation of neuron differentiation  positive regulation of transcription from RNA polymerase II promoter  positive regulation of transcription from RNA polymerase II promoter  autonomic nervous system development  enteric nervous system development  sympathetic nervous system development  parasympathetic nervous system development  inner ear development  efferent axon development in a lateral line nerve  respiratory system development  retrotrapezoid nucleus neuron differentiation  dopaminergic neuron differentiation  dopaminergic neuron differentiation  cellular response to BMP stimulus  neural crest cell migration involved in autonomic nervous system development  
Other databases
Probes
Litterature
PubMed86 Pubmed reference(s) in Entrez
PubGenePHOX2B
iHOPPHOX2B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated01-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 1 12:43:19 CEST 2013
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