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PHOX2B Gene

protein-coding   GIFtS: 57
GCID: GC04M041746

Paired-Like Homeobox 2b

(Previous name: paired mesoderm homeobox 2b)
(Previous symbol: PMX2B)
  See PHOX2B-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Paired-Like Homeobox 2b1 2 3     PHOX2B Homeodomain Protein2 3
PMX2B1 2 3 5     NBLST22 5
Paired Mesoderm Homeobox 2b1 2     Neuroblastoma Paired-Type Homeobox Protein2
Neuroblastoma Phox2 3     Paired Mesoderm Homeobox Protein 2B2
NBPhox2 3     NBPHOX5

External Ids:    HGNC: 91431   Entrez Gene: 89292   Ensembl: ENSG000001091327   OMIM: 6038515   UniProtKB: Q994533   

Export aliases for PHOX2B gene to outside databases

Previous GC identifers: GC04M042029 GC04M041596 GC04M041661 GC04M041587 GC04M041440 GC04M041068


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PHOX2B Gene:
The DNA-associated protein encoded by this gene is a member of the paired family of homeobox proteins localized to
the nucleus. The protein functions as a transcription factor involved in the development of several major
noradrenergic neuron populations and the determination of neurotransmitter phenotype. The gene product is linked
to enhancement of second messenger-mediated activation of the dopamine beta-hydroylase, c-fos promoters and
several enhancers, including cyclic amp-response element and serum-response element. (provided by RefSeq, Jul
2008)

GeneCards Summary for PHOX2B Gene:
PHOX2B (paired-like homeobox 2b) is a protein-coding gene. Diseases associated with PHOX2B include phox2b-related neuroblastoma, susceptibility, and adrenal neuroblastoma. GO annotations related to this gene include RNA polymerase II regulatory region sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is ALX1.

UniProtKB/Swiss-Prot: PHX2B_HUMAN, Q99453
Function: Involved in the development of several major noradrenergic neuron populations, including the locus
coeruleus. Transcription factor which could determine a neurotransmitter phenotype in vertebrates. Enhances
second-messenger-mediated activation of the dopamine beta-hydrolase and c-fos promoters, and of several enhancers
including cAMP-response element and serum-response element

Gene Wiki entry for PHOX2B Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000004.11  NC_018915.2  NT_006238.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the PHOX2B gene promoter:
         E2F-4   E2F-3a   E2F-5   CUTL1   E2F-2   SRY   E2F   E2F-1   SEF-1 (1)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPHOX2B promoter sequence
   Search Chromatin IP Primers for PHOX2B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PHOX2B


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4p12   Ensembl cytogenetic band:  4p13   HGNC cytogenetic band: 4p13

PHOX2B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PHOX2B gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04M041746:  view genomic region     (about GC identifiers)

Start:
41,746,099 bp from pter      End:
41,750,987 bp from pter
Size:
4,889 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PHX2B_HUMAN, Q99453 (See protein sequence)
Recommended Name: Paired mesoderm homeobox protein 2B  
Size: 314 amino acids; 31621 Da
Subunit: Interacts with TRIM11 (By similarity)
Secondary accessions: Q6PJD9

Explore the universe of human proteins at neXtProt for PHOX2B: NX_Q99453

Explore proteomics data for PHOX2B at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PHOX2B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003915.2  
    ENSEMBL proteins: 
     ENSP00000226382   ENSP00000426733  

    PHOX2B Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PRD: Homeoboxes / PRD class

    3 InterPro protein domains:
     IPR017970 Homeobox_CS
     IPR001356 Homeobox_dom
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry Q99453

    ProtoNet protein and cluster: Q99453

    UniProtKB/Swiss-Prot: PHX2B_HUMAN, Q99453
    Similarity: Belongs to the paired homeobox family
    Similarity: Contains 1 homeobox DNA-binding domain


    Find genes that share domains with PHOX2B           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PHX2B_HUMAN, Q99453
    Function: Involved in the development of several major noradrenergic neuron populations, including the locus
    coeruleus. Transcription factor which could determine a neurotransmitter phenotype in vertebrates. Enhances
    second-messenger-mediated activation of the dopamine beta-hydrolase and c-fos promoters, and of several enhancers
    including cAMP-response element and serum-response element

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000977RNA polymerase II regulatory region sequence-specific DNA binding IDA16280598
    GO:0000978RNA polymerase II core promoter proximal region sequence-specific DNA binding IDA16144830
    GO:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0043565sequence-specific DNA binding ----
         
    Find genes that share ontologies with PHOX2B           About GenesLikeMe


    Phenotypes:
         11 MGI mutant phenotypes (inferred from 8 alleles(MGI details for Phox2b):
     behavior/neurological  cardiovascular system  cellular  embryogenesis  growth/size/body 
     homeostasis/metabolism  mortality/aging  nervous system  normal  respiratory system 
     vision/eye 

    Find genes that share phenotypes with PHOX2B           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PHOX2B
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for PHOX2B

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PHOX2B
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    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate PHOX2B (see all 66):
    hsa-miR-146a hsa-miR-4272 hsa-miR-502-3p hsa-miR-3622b-3p hsa-miR-3150b-3p hsa-miR-3148 hsa-miR-2113 hsa-miR-4324
    SwitchGear 3'UTR luciferase reporter plasmidPHOX2B 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PHOX2B

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PHX2B_HUMAN, Q99453: Nucleus (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    cytosol2

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000790nuclear chromatin IDA16280598
    GO:0005634nucleus ----

    Find genes that share ontologies with PHOX2B           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PHOX2B About    
    See pathways by source

    SuperPathContained pathways About
    1Transcription factors in neurogenesis
    Transcription factors in neurogenesis
    2SIDS Susceptibility Pathways
    SIDS Susceptibility Pathways
    3Neural Crest Differentiation
    Neural Crest Differentiation


    2 BioSystems Pathways for PHOX2B
        SIDS Susceptibility Pathways
    Neural Crest Differentiation


        Pathway & Disease-focused RT2 Profiler PCR Array including PHOX2B: 
              Homeobox (HOX) Genes in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PHOX2B

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for PHOX2B (ENSP000002263824) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    NADKENSP000003416794STRING: ENSP00000341679
    SCFD1ENSP000003907834STRING: ENSP00000390783
    MPP7ENSP000003379074STRING: ENSP00000337907
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 33):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001764neuron migration ISS--
    GO:0002087regulation of respiratory gaseous exchange by neurological system process ISS--
    GO:0003357noradrenergic neuron differentiation ISS--
    GO:0003358noradrenergic neuron development ISS--
    GO:0003360brainstem development IEP12640453

    Find genes that share ontologies with PHOX2B           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PHOX2B (PHX2B)

    1 HMDB Compound for PHOX2B    About this table
    CompoundSynonyms CAS #PubMed Ids
    Cyclic AMPCyclic AMP (see all 19)60-92-4--

    5 Novoseek inferred chemical compound relationships for PHOX2B gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alanine 62.7 37 17045833 (5), 17300129 (3), 19191321 (2), 14566559 (2) (see all 14)
    dopamine 21.2 5 16249188 (1), 16280598 (1), 16021468 (1), 18572378 (1)
    tyrosine 8.07 6 10230790 (1), 16021468 (1), 10736201 (1), 11861481 (1)
    norepinephrine 7.54 2 16280598 (1), 15516980 (1)
    glutamine 0 1 16021468 (1)



    Find genes that share compounds with PHOX2B           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for PHOX2B gene: 
    NM_003924.3  

    Unigene Cluster for PHOX2B:

    Paired-like homeobox 2b
    Hs.87202  [show with all ESTs]
    Unigene Representative Sequence: NM_003924
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000226382(uc003gwf.4) ENST00000510424
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate PHOX2B (see all 66):
    hsa-miR-146a hsa-miR-4272 hsa-miR-502-3p hsa-miR-3622b-3p hsa-miR-3150b-3p hsa-miR-3148 hsa-miR-2113 hsa-miR-4324
    SwitchGear 3'UTR luciferase reporter plasmidPHOX2B 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat PHOX2B
      QuantiFast Probe-based Assays in human, mouse, rat PHOX2B

    Additional mRNA sequence: 

    AK311082.1 BC017199.2 D82344.1 

    1 DOTS entry:

    DT.40117788 

    18 AceView cDNA sequences:

    BX348259 BC017199 CR592141 CR603200 CR615256 BX324379 AI266171 AL529004 
    BX282258 BQ069075 BX394111 D82344 AL519054 NM_003924 BX334182 BX324378 
    BE314442 BE312054 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PHOX2B expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCTTATAGT
    PHOX2B Expression
    About this image


    PHOX2B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Gut Tube (Gastrointestinal Tract)
             Midgut
     
     NULL (Uncategorized)
             Neural rosettes
     
     Kidney (Urinary System)
             Metanephric Mesenchyme Cells Metanephric Mesenchyme
     
     Skeletal Muscle (Muscoskeletal System)
             Muscle Progenitor Cells Thoracic Ventrolateral Dermomyotome Lip
    PHOX2B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PHOX2B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.87202

    UniProtKB/Swiss-Prot: PHX2B_HUMAN, Q99453
    Tissue specificity: Expressed in neuroblastoma, brain and adrenal gland

        Pathway & Disease-focused RT2 Profiler PCR Array including PHOX2B: 
              Homeobox (HOX) Genes in human mouse rat

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    In Situ
    Assay Products:
     

     
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for PHOX2B gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Phox2b1 , 5 paired-like homeobox 2b1, 5 91.3(n)1
    100(a)1
      5 (35.95 cM)5
    189351  NM_008888.31  NP_032914.11 
     670943975 
    chicken
    (Gallus gallus)
    Aves PHOX2B1 paired-like homeobox 2b 89.07(n)
    97.31(a)
      395548  XM_001234150.3  XP_001234151.2 
    lizard
    (Anolis carolinensis)
    Reptilia PHOX2B6
    paired-like homeobox 2b
    94(a)
    1 ↔ 1
    5(100920164-100920370)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.322312 Xenopus laevis transcribed sequence with strong similarity more 80.77(n)    CA987053.1 
    zebrafish
    (Danio rerio)
    Actinopterygii phox2bb1 paired-like homeobox 2bb 81.42(n)
    94.79(a)
      544654  NM_001014818.1  NP_001014818.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta PHDP6
    Putative homeodomain protein
    32(a)
    1 → many
    2R(19770708-19771835)
    worm
    (Caenorhabditis elegans)
    Secernentea ceh-176
    Protein CEH-17 (ceh-17) mRNA, complete cds
    32(a)
    1 → many
    I(4568962-4570027) WBGene00000440


    ENSEMBL Gene Tree for PHOX2B (if available)
    TreeFam Gene Tree for PHOX2B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PHOX2B gene
    ALX12  ARX2  RAX2  DRGX2  SHOX22  PRRX12  PHOX2A2  ALX42  
    ISX2  RAX22  ALX32  SHOX2  OTP2  PRRX22  
    13 SIMAP similar genes for PHOX2B using alignment to 2 protein entries:     PHX2B_HUMAN (see all proteins):
    SHOX2    PITX2    PITX1    PHOX2A    MNX1    NKX2-5
    OTX2    PRRX1    DUX2    HOXB1    PRRX2    DRGX
    RAX2

    Find genes that share paralogs with PHOX2B           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PHOX2B (see all 153)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0469004
    Congenital central hypoventilation syndrome (CCHS)4--see VAR_0469002 R Q mis40--------
    VAR_0469014
    Congenital central hypoventilation syndrome (CCHS)4--see VAR_0469012 Q R mis40--------
    rs289397161,2,,4
    Cpathogenic141639438(-) AGGCGC/GGAGTC 2 R G mis1 ese30--------
    rs1048938561,2
    Cother141638243(-) TGGGGA/GCCCAG 2 D G mis10--------
    rs1048938551,2
    Cother141639560(-) GCGGCG/TCATCC 2 R L mis10--------
    rs1420001111,2
    --41635745(+) CTTGCC/TGGATA 1 -- ds50010--------
    rs76618541,2
    C,F--41635756(+) TCACTG/AGTCTT 1 -- ds50015Minor allele frequency- A:0.15NA WA 244
    rs1838606481,2
    --41635787(+) TCCACA/GCTGTC 1 -- ds50010--------
    rs1884254231,2
    --41635793(+) CTGTCA/GTTTTA 1 -- ds50010--------
    rs1457756141,2
    C--41635844(+) GCCACG/TTAGTC 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for PHOX2B (41746099 - 41750987 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for PHOX2B:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv32898CNV Gain17666407

    Human Gene Mutation Database (HGMD): PHOX2B
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PHOX2B
    DNA2.0 Custom Variant and Variant Library Synthesis for PHOX2B

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    OMIM gene information: 603851   
    OMIM disorders: 209880  613013  
    UniProtKB/Swiss-Prot: PHX2B_HUMAN, Q99453
  • Congenital central hypoventilation syndrome (CCHS) [MIM:209880]: Rare disorder characterized by abnormal
    control of respiration in the absence of neuromuscular or lung disease, or an identifiable brain stem lesion. A
    deficiency in autonomic control of respiration results in inadequate or negligible ventilatory and arousal
    responses to hypercapnia and hypoxemia. Note=The disease is caused by mutations affecting the gene represented in
    this entry
  • Neuroblastoma 2 (NBLST2) [MIM:613013]: A common neoplasm of early childhood arising from embryonic cells
    that form the primitive neural crest and give rise to the adrenal medulla and the sympathetic nervous system.
    Note=Disease susceptibility is associated with variations affecting the gene represented in this entry

  • 15 diseases for PHOX2B:    
    About MalaCards
    phox2b-related neuroblastoma, susceptibility    adrenal neuroblastoma    neuroblastoma 2    central hypoventilation syndrome, congenital, with or without hirschsprung disease
    neuroblastoma, susceptibility    hirschsprung disease ganglioneuroblastoma    autonomic dysfunction    central hypoventilation syndrome
    learning disability    neuroblastoma    congenital central hypoventilation syndrome    sudden infant death syndrome
    obstructive sleep apnea    hirschsprung's disease    type 1 diabetes mellitus

    3 diseases from the University of Copenhagen DISEASES database for PHOX2B:
    Hirschsprung's disease     Adrenal neuroblastoma     Neuroblastoma

    Find genes that share disorders with PHOX2B           About GenesLikeMe

    5 Novoseek inferred disease relationships for PHOX2B gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    central hypoventilation syndrome, congenital 98.3 40 16882781 (5), 17045833 (2), 18407552 (2), 18798833 (2) (see all 29)
    hirschsprung disease 86.8 12 16249188 (1), 15949893 (1), 19735829 (1), 15930201 (1) (see all 11)
    sudden infant death syndrome 37 1 15185974 (1)
    atrophy 0 1 15150159 (1)
    tumors 0 6 15657873 (2), 19212675 (1), 16888290 (1), 20208042 (1)

    GeneTests: PHOX2B
    GeneReviews: PHOX2B
    Genetic Association Database (GAD): PHOX2B
    Human Genome Epidemiology (HuGE) Navigator: PHOX2B (18 documents)

    Export disorders for PHOX2B gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    TryGeneCards Plus

    PubMed articles for PHOX2B gene, integrated from 10 sources (see all 147) (see top 10):
    (articles sorted by number of sources associating them with PHOX2B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. (PubMed id 15657873)1, 2, 4, 9 Trochet D.... Amiel J. (Am. J. Hum. Genet. 2005)
    2. Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. (PubMed id 15024693)1, 2, 4, 9 Trochet D.... Amiel J. (Am. J. Hum. Genet. 2004)
    3. PHOX2B analysis in non-syndromic neuroblastoma cases shows novel mutations and genotype-phenotype associations. (PubMed id 16691592)1, 2, 4 McConville C.... Rahman N. (Am. J. Med. Genet. A 2006)
    4. Genomic structure and functional characterization of NBPhox (PMX2B), a homeodomain protein specific to catecholaminergic cells that is involved in second messenger-mediated transcriptional activation. (PubMed id 10395798)1, 2, 3 Yokoyama M.... Nakamura M. (Genomics 1999)
    5. Identification and cloning of neuroblastoma-specific and nerve tissue-specific genes through compiled expression profiles. (PubMed id 9039501)1, 2, 3 Yokoyama M.... Matsubara K. (DNA Res. 1996)
    6. Association analysis of the PHOX2B gene with Hirschsprung disease in the Han Chinese population of Southeastern China. (PubMed id 19735829)1, 4, 9 Liu C.P....Li J.C. (J. Pediatr. Surg. 2009)
    7. Genetic association analyses of PHOX2B and ASCL1 in neuropsychiatric disorders: evidence for association of ASCL1 with Parkinson's disease. (PubMed id 16021468)1, 4, 9 Ide M....Yoshikawa T. (Hum. Genet. 2005)
    8. Paired-like homeodomain proteins Phox2a/Arix and Phox2b/NBPhox have similar genetic organization and independently regulate dopamine beta- hydroxylase gene transcription. (PubMed id 11034547)1, 2, 9 Adachi M.... Lewis E.J. (DNA Cell Biol. 2000)
    9. Unequal crossover recombination - population screening for PHOX2B gene polyalanine polymorphism using CE. (PubMed id 17300129)1, 4, 9 Hung C.C....Hsu S.M. (Electrophoresis 2007)
    10. Molecular analysis of congenital central hypoventilation syndrome. (PubMed id 14566559)1, 2, 9 Sasaki A.... Hayasaka K. (Hum. Genet. 2003)
    11. The French Congenital Central Hypoventilation Syndrome Registry: general data, phenotype, and genotype. (PubMed id 15653965)1, 4, 9 Trang H....Gaultier C. (Chest 2005)
    12. Association study of PHOX2B as a candidate gene for Hirschsprung's disease. (PubMed id 12631670)1, 4, 9 Garcia-BarcelA^ M....Tam P.K. (Gut 2003)
    13. Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development. (PubMed id 15240857)1, 4, 9 Weese-Mayer D.E....Marazita M.L. (Pediatr. Res. 2004)
    14. Comparison of PHOX2B testing methods in the diagnosis of congenital central hypoventilation syndrome and mosaic carriers. (PubMed id 21051998)1, 4 Jennings L.J....Weese-Mayer D.E. (Diagn. Mol. Pathol. 2010)
    15. Post-mortem pathologic and genetic studies in &quot;dead in bed syndrome&quot; cases in type 1 diabetes mellitus. (PubMed id 20004937)1, 4 Tu E....Semsarian C. (Hum. Pathol. 2010)
    16. Association of linear growth impairment in pediatric Crohn's disease and a known height locus: a pilot study. (PubMed id 20846217)1, 4 Lee J.J....Hirschhorn J. (Ann. Hum. Genet. 2010)
    17. A candidate gene study of obstructive sleep apnea in European Americans and African Americans. (PubMed id 20538960)1, 4 Larkin E.K....Redline S. (Am. J. Respir. Crit. Care Med. 2010)
    18. rs224136 on chromosome 10q21.1 and variants in PHOX2B, NCF4, and FAM92B are not major genetic risk factors for susceptibility to Crohn's disease in the German population. (PubMed id 19262523)1, 4 Glas J....Brand S. (Am. J. Gastroenterol. 2009)
    19. Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death. (PubMed id 18041756)1, 4 Gronli J.O....Weese-Mayer D.E. (Pediatr. Pulmonol. 2008)
    20. Confirmation of association of IRGM and NCF4 with ileal Crohn's disease in a population-based cohort. (PubMed id 18580884)1, 4 Roberts R.L....Merriman T.R. (Genes Immun. 2008)
    21. Rare occurrence of PHOX2b mutations in sporadic neuroblastomas. (PubMed id 19011468)1, 4 Serra A....Fitze G. (J. Pediatr. Hematol. Oncol. 2008)
    22. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    23. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. (PubMed id 12640453)1, 2 Amiel J.... Lyonnet S. (Nat. Genet. 2003)
    24. Interaction between PHOX2B and CREBBP mediates synergistic activation: mechanistic implications of PHOX2B mutants. (PubMed id 19191321)1, 9 Wu H.T....Wu K.J. (Hum. Mutat. 2009)
    25. PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome. (PubMed id 18079495)1, 9 Trochet D....Amiel J. (Am. J. Respir. Crit. Care Med. 2008)
    26. Prevalence and functional consequence of PHOX2B mutations in neuroblastoma. (PubMed id 17637745)1, 9 Raabe E.H....Maris J.M. (Oncogene 2008)
    27. The Phox2B homeobox gene is mutated in sporadic neuroblastomas. (PubMed id 15516980)1, 9 van Limpt V....Versteeg R. (Oncogene 2004)
    28. Effects of transcription factors Phox2 on expression of norepinephrine transporter and dopamine beta-hydroxylase in SK-N-BE(2)C cells. (PubMed id 19573018)1, 9 Fan Y....Zhu M.Y. (J. Neurochem. 2009)
    29. Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma. (PubMed id 17765533)1, 9 de Pontual L....Amiel J. (Eur. J. Cancer 2007)
    30. The TLX2 homeobox gene is a transcriptional target of PHOX2B in neural-crest-derived cells. (PubMed id 16402914)1, 9 Borghini S....Ceccherini I. (Biochem. J. 2006)
    31. ARIX and PHOX2B polymorphisms in patients with congenital superior oblique muscle palsy. (PubMed id 16049556)1, 9 Jiang Y....Yasuda T. (Acta Med. Okayama 2005)
    32. In Vitro studies of non poly alanine PHOX2B mutations argue against a loss-of-function mechanism for congenital central hypoventilation. (PubMed id 19058226)1, 9 Trochet D....Amiel J. (Hum. Mutat. 2009)
    33. Congenital Central Hypoventilation Syndrome due to PHOX2b gene defects: inheritance from asymptomatic parents. (PubMed id 19707990)1, 9 Hammel M....Holzinger A. (Klin Padiatr 2009)
    34. PHOX2B mutation-confirmed congenital central hypoventilation syndrome in a Chinese family: presentation from newborn to adulthood. (PubMed id 19201717)1, 9 Lee P....Wu H.D. (Chest 2009)
    35. PHOX2A and PHOX2B genes are highly co-expressed in human neuroblastoma. (PubMed id 18949361)1, 9 Longo L....Perri P. (Int. J. Oncol. 2008)
    36. Brainstem anomalies in two patients affected by congenital central hypoventilation syndrome. (PubMed id 16763219)1, 9 Bachetti T....Ottonello G. (Am. J. Respir. Crit. Care Med. 2006)
    37. Phox2 and dHAND transcription factors select shared and unique target genes in the noradrenergic cell type. (PubMed id 16280598)1, 9 Rychlik J.L....Lewis E.J. (J. Mol. Neurosci. 2005)
    38. Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction. (PubMed id 16249188)1, 9 Trochet D....Amiel J. (Hum. Mol. Genet. 2005)
    39. Sudden infant death syndrome is not associated with the mutation of PHOX2B gene, a major causative gene of congenital central hypoventilation syndrome. (PubMed id 15185974)1, 9 Kijima K....Hayasaka K. (Tohoku J. Exp. Med. 2004)
    40. Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene. (PubMed id 18798833)1, 9 Repetto G.M....Weese-Mayer D.E. (Acta Paediatr. 2009)
    41. Clinical features, ARIX and PHOX2B nucleotide changes in three families with congenital superior oblique muscle palsy. (PubMed id 18323871)1, 9 Imai S....Ohtsuki H. (Acta Med. Okayama 2008)
    42. Transcriptional regulation of TLX2 and impaired intestinal innervation: possible role of the PHOX2A and PHOX2B genes. (PubMed id 17505528)1, 9 Borghini S....Ceccherini I. (Eur. J. Hum. Genet. 2007)
    43. Molecular cloning and characterization of the promoter region of the human Phox2b gene. (PubMed id 15193420)1, 9 Jong Hong S....Kim K.S. (Brain Res. Mol. Brain Res. 2004)
    44. PMX2B, a new candidate gene for Hirschsprung's disease. (PubMed id 12919134)1, 9 Benailly H.K....Romana S.P. (Clin. Genet. 2003)
    45. Defective respiratory rhythmogenesis and loss of central chemosensitivity in Phox2b mutants targeting retrotrapezoid nucleus neurons. (PubMed id 19940179)1, 9 Dubreuil V....Goridis C. (J. Neurosci. 2009)
    46. Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine's Curse). (PubMed id 18407552)1, 9 Trochet D....Amiel J. (Hum. Mutat. 2008)
    47. A human mutation in Phox2b causes lack of CO2 chemosensitivity, fatal central apnea, and specific loss of parafacial neurons. (PubMed id 18198276)1, 9 Dubreuil V....Goridis C. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    48. PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood. (PubMed id 16873766)1, 9 Antic N.A....Weese-Mayer D.E. (Am. J. Respir. Crit. Care Med. 2006)
    49. An in vitro approach to test the possible role of candidate factors in the transcriptional regulation of the RET proto-oncogene. (PubMed id 16127999)1, 9 Bachetti T....Ceccherini I. (Gene Expr. 2005)
    50. Compound effect of PHOX2B and RET gene variants in congenital central hypoventilation syndrome combined with Hirschsprung disease. (PubMed id 18438890)1, 9 Fitze G....Schackert H.K. (Am. J. Med. Genet. A 2008)
    51. Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype. (PubMed id 16888290)1, 9 Berry-Kravis E.M....Weese-Mayer D.E. (Am. J. Respir. Crit. Care Med. 2006)
    52. [Congenital central hypoventilation syndrome: paradigm shifts and future prospects]. (PubMed id 24605541)1 Hayasaka K. and Sasaki A. (Nippon Rinsho 2014)
    53. Autonomic dysfunction of glucose homoeostasis in congenital central hypoventilation syndrome. (PubMed id 23231723)1 Marics G....TA^th-Heyn P. (Acta Paediatr. 2013)
    54. Contributions of PHOX2B in the pathogenesis of Hirschsprung disease. (PubMed id 23342068)1 FernA!ndez R.M....Borrego S. (PLoS ONE 2013)
    55. Transcriptional dysregulation and impairment of PHOX2B auto-regulatory mechanism induced by polyalanine expansion mutations associated with congenital central hypoventilation syndrome. (PubMed id 23103552)1 Di Lascio S....Fornasari D. (Neurobiol. Dis. 2013)
    56. A study of gata3 and phox2b expression in tumors of the autonomic nervous system. (PubMed id 23715162)1 Nonaka D....Sun C.C. (Am. J. Surg. Pathol. 2013)
    57. Variable human phenotype associated with novel deletions of the PHOX2B gene. (PubMed id 21830319)1 Jennings L.J....Weese-Mayer D.E. (Pediatr. Pulmonol. 2012)
    58. Inheritance of polyalanine expansion mutation of PHOX2B in congenital central hypoventilation syndrome. (PubMed id 22437207)1 Meguro T....Hayasaka K. (J. Hum. Genet. 2012)
    59. Germline mosaicism of PHOX2B mutation accounts for familial recurrence of congenital central hypoventilation syndrome (CCHS). (PubMed id 22821709)1 Rand C.M....Weese-Mayer D.E. (Am. J. Med. Genet. A 2012)
    60. Identification of novel DNA methylation markers in colorectal cancer using MIRA-based microarrays. (PubMed id 22552777)1 Li H....Yang Y.X. (Oncol. Rep. 2012)
    61. Congenital central hypoventilation syndrome with hirschsprung's disease due to PHOX2B gene mutation in a Turkish infant. (PubMed id 23427517)1 KaymakAsi A....Yilmaz M.S. (Turk. J. Pediatr. 2012)
    62. [Late onset Ondine syndrome: literature review on a case report]. (PubMed id 23037578)1 Butin M....Reix P. (Arch Pediatr 2012)
    63. A Phox2- and Hand2-dependent Hand1 cis-regulatory element reveals a unique gene dosage requirement for Hand2 during sympathetic neurogenesis. (PubMed id 22323723)1 Vincentz J.W....Firulli A.B. (J. Neurosci. 2012)
    64. The E3 ubiquitin ligase TRIM11 mediates the degradation of congenital central hypoventilation syndrome-associated polyalanine-expanded PHOX2B. (PubMed id 22307522)1 Parodi S....Ceccherini I. (J. Mol. Med. 2012)
    65. Associations between variants near a monoaminergic pathways gene (PHOX2B) and amygdala reactivity: a genome-wide functional imaging study. (PubMed id 22856363)1 Ousdal O.T....Andreassen O.A. (Twin Res Hum Genet 2012)
    66. Phenotype-phenotype and genotype-phenotype correlations in patients with idiopathic superior oblique muscle palsy. (PubMed id 22170461)1 Ohkubo S.I....Ohtsuki H. (J. Hum. Genet. 2012)
    67. Hirschsprung's disease and variants in genes that regulate enteric neural crest cell proliferation, migration and differentiation. (PubMed id 22648184)1 Carter T.C....Mills J.L. (J. Hum. Genet. 2012)
    68. Haddad syndrome with PHOX2B gene mutation in a Korean infant. (PubMed id 21286029)1 Lee C.W....Kim D.K. (J. Korean Med. Sci. 2011)
    69. Congenital central hypoventilation syndrome due to PHOX2B mutation in a Saudi child: a case report. (PubMed id 21088916)1 Al Saadi M.M. (amp 2011)
    70. Congenital central hypoventilation syndrome: four families. (PubMed id 21076974)1 Trivedi A....Nair R. (amp 2011)
    71. Transcription factor-induced lineage selection of stem-cell-derived neural progenitor cells. (PubMed id 21624811)1 Panman L....Perlmann T. (Cell Stem Cell 2011)
    72. Congenital central hypoventilation syndrome and the PHOX2B gene mutation. (PubMed id 22052119)1 Marion T.L. and Bradshaw W.T. (Neonatal Netw 2011)
    73. PHOX2B mutations in patients with Ondine-Hirschsprung disease and a review of the literature. (PubMed id 21373876)1 Kwon M.J....Park W.S. (Eur. J. Pediatr. 2011)
    74. IL23R, NOD2/CARD15, ATG16L1 and PHOX2B polymorphisms in a group of patients with Crohn's disease and correlation with sub-phenotypes. (PubMed id 21206965)1 Lauriola M....Solmi R. (Int. J. Mol. Med. 2011)
    75. PHOX2B-mediated regulation of ALK expression: in vitro identification of a functional relationship between two genes involved in neuroblastoma. (PubMed id 20957039)1 Bachetti T....Perri P. (PLoS ONE 2010)
    76. PHOX2B immunolocalization of the candidate human retrotrapezoid nucleus. (PubMed id 19888871)1 Rudzinski E. and Kapur R.P. (Pediatr. Dev. Pathol. 2010)
    77. Congenital central hypoventilation syndrome and the PHOX2B gene: a model of respiratory and autonomic dysregulation. (PubMed id 20601214)1 Patwari P.P....Weese-Mayer D.E. (amp 2010)
    78. Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: rs17884724:A&gt;C is associated with 7-alanine expansion. (PubMed id 19881470)1 Arai H....Hayasaka K. (J. Hum. Genet. 2010)
    79. Molecular pathogenesis of peripheral neuroblastic tumors. (PubMed id 20101209)1 Janoueix-Lerosey I....Delattre O. (Oncogene 2010)
    80. Asymmetrical distribution of non-conserved regulatory sequences at PHOX2B is reflected at the ENCODE loci and illuminates a possible genome-wide trend. (PubMed id 19128492)1 McGaughey D.M....McCallion A.S. (BMC Genomics 2009)
    81. Analysis of neuroblastoma tumour progression; loss of PHOX2B on 4p13 and 17q gain are early events in neuroblastoma tumourigenesis. (PubMed id 18292934)1 Krona C....Martinsson T. (Int. J. Oncol. 2008)
    82. Trim11 increases expression of dopamine beta-hydroxylase gene by interacting with Phox2b. (PubMed id 18275850)1 Hong S.J....Kim K.S. (Biochem. Biophys. Res. Commun. 2008)
    83. Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome. (PubMed id 18157832)1 Parodi S....Ceccherini I. (Hum. Mutat. 2008)
    84. Role of RET and PHOX2B gene polymorphisms in risk of Hirschsprung's disease in Chinese population. (PubMed id 17440194)1 Miao X....Tam P.K. (Gut 2007)
    85. Vagal and sympathetic heart rate and blood pressure control in adult onset PHOX2B mutation-confirmed congenital central hypoventilation syndrome. (PubMed id 17541758)1 Diedrich A....Weese-Mayer D.E. (Clin. Auton. Res. 2007)
    86. Sudden infant death syndrome: Case-control frequency differences in paired like homeobox (PHOX) 2B gene. (PubMed id 16830328)1 Rand C.M....Berry-Kravis E.M. (Am. J. Med. Genet. A 2006)
    87. A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. (PubMed id 17068223)4 Duerr R.H.... Cho J.H. (Science 2006)
    88. Pediatric disorders with autonomic dysfunction: what role for PHOX2B? (PubMed id 15901893)1 Gaultier C....Gallego J. (Pediatr. Res. 2005)
    89. PHOX2B regulates its own expression by a transcriptional auto-regulatory mechanism. (PubMed id 16144830)1 Cargnin F....Fornasari D. (J. Biol. Chem. 2005)
    90. Germline PHOX2B mutation in hereditary neuroblastoma. (PubMed id 15338462)1 Mosse Y.P....Maris J.M. (Am. J. Hum. Genet. 2004)
    91. Evidence for a hereditary neuroblastoma predisposition locus at chromosome 16p12-13. (PubMed id 12438263)1 Maris J.M....Shusterman S. (Cancer Res. 2002)
    92. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    93. The homeobox gene Phox2b is essential for the development of autonomic neural crest derivatives. (PubMed id 10360575)1 Pattyn A....Brunet J.F. (Nature 1999)
    94. Expression and interactions of the two closely related homeobox genes Phox2a and Phox2b during neurogenesis. (PubMed id 9374403)1 Pattyn A....Brunet J.F. (Development 1997)
    95. Congenital Central Hypoventilation Syndrome (PubMed id 20301600)1 Pagon R.A....Stephens K. (1993)
    96. Identification of Phox2b-regulated genes by expression profiling of cranial motoneuron precursors. (PubMed id 18565209)9 Pla P....Goridis C. (Neural Dev 2008)
    97. Geldanamycin promotes nuclear localisation and clearance of PHOX2B misfolded proteins containing polyalanine expansions. (PubMed id 17045833)9 Bachetti T....Ceccherini I. (amp 2007)
    98. Central nervous system distribution of the transcription factor Phox2b in the adult rat. (PubMed id 17559094)9 Kang B.J....Stornetta R.L. (J. Comp. Neurol. 2007)
    99. Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b. (PubMed id 14608649)9 Weese-Mayer D.E....Marazita M.L. (Am. J. Med. Genet. A 2003)
    100. The role of Phox2b in synchronizing pan-neuronal and type-specific aspects of neurogenesis. (PubMed id 12399315)9 Dubreuil V....Goridis C. (Development 2002)
    101. Phox2b expression in the aldosterone-sensitive HSD2 neurons of the NTS. (PubMed id 18620340)9 Geerling J.C....Loewy A.D. (Brain Res. 2008)
    102. Characterization of dermatoglyphics in PHOX2B-confirmed congenital central hypoventilation syndrome. (PubMed id 16882781)9 Todd E.S....Marazita M.L. (Pediatrics 2006)
    103. PHOX2B mutations and genetic predisposition to neuroblastoma. (PubMed id 15735672)9 Perri P....Ceccherini I. (Oncogene 2005)
    104. Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. (PubMed id 15949893)9 Bourdeaut F....Delattre O. (Cancer Lett. 2005)
    105. Transcriptional regulation of RET by Nkx2-1, Phox2b, Sox10, and Pax3. (PubMed id 19853745)9 Leon T.Y.Y.... Garcia-Barcelo M.M. (J. Pediatr. Surg. 2009)
    106. Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine. (PubMed id 19422034)9 Weese-Mayer D.E....Ceccherini I. (Pediatr. Pulmonol. 2009)
    107. Haploinsufficiency for Phox2b in mice causes dilated pupils and atrophy of the ciliary ganglion: mechanistic insights into human congenital central hypoventilation syndrome. (PubMed id 15150159)9 Cross S.H....Jackson I.J. (Hum. Mol. Genet. 2004)
    108. An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management. (PubMed id 20208042)9 Weese-Mayer D.E....Trang H. (Am. J. Respir. Crit. Care Med. 2010)
    109. Interaction of Mash1 and Phox2b in sympathetic neuron development. (PubMed id 15033166)9 Stanke M....Rohrer H. (Mol. Cell. Neurosci. 2004)
    110. The Phox2b transcription factor coordinately regulates neuronal cell cycle exit and identity. (PubMed id 11060244)9 Dubreuil V....Goridis C. (Development 2000)
    111. A novel missense mutation in the PHOX2B gene is associated with late onset central hypoventilation syndrome. (PubMed id 18785257)9 Parodi S....Ottonello G. (Pediatr. Pulmonol. 2008)
    112. The expression of PHOX2A, PHOX2B and of their target gene dopamine-beta-hydroxylase (DbetaH) is not modified by exposure to extremely-low-frequency electromagnetic field (ELF-EMF) in a human neuronal model. (PubMed id 18572378)9 Benfante R....Fornasari D. (Toxicol In Vitro 2008)
    113. Congenital central hypoventilation syndrome with PHOX2B gene mutation in a Taiwanese infant. (PubMed id 17282973)9 Chen L.R....Hsieh W.S. (J. Formos. Med. Assoc. 2007)
    114. Central hypoventilation with PHOX2B expansion mutation presenting in adulthood. (PubMed id 17909190)9 Barratt S....Whittle A.T. (Thorax 2007)
    115. Sp proteins and Phox2b regulate the expression of the human Phox2a gene. (PubMed id 11549713)9 Flora A....Fornasari D. (J. Neurosci. 2001)
    116. Specification of the central noradrenergic phenotype by the homeobox gene Phox2b. (PubMed id 10736201)9 Pattyn A....Brunet J.F. (Mol. Cell. Neurosci. 2000)
    117. A nonverbal learning disability in a case of central hypoventilation syndrome without a PHOX2B gene mutation. (PubMed id 19813116)9 Trobliger R....Higgins J.J. (Child Neuropsychol 2010)
    118. PHOX2B mutations and ventilatory control. (PubMed id 18675942)9 Gallego J. and Dauger S. (amp 2008)
    119. Concomitant existence of total bowel aganglionosis and congenital central hypoventilation syndrome in a neonate with PHOX2B gene mutation. (PubMed id 17270534)9 Ou-Yang M.C....Liu C.A. (J. Pediatr. Surg. 2007)
    120. Characterization of Xenopus Phox2a and Phox2b defines expression domains within the embryonic nervous system and early heart field. (PubMed id 15261839)9 Talikka M....Zimmerman K. (Gene Expr. Patterns 2004)
    121. Comprehensive characterization of neuroblastoma cell line subtypes reveals bilineage potential similar to neural crest stem cells. (PubMed id 19216736)9 Acosta S....Mora J. (BMC Dev. Biol. 2009)
    122. BMP signaling regulates sympathetic nervous system development through Smad4-dependent and -independent pathways. (PubMed id 19793887)9 Morikawa Y....Cserjesi P. (Development 2009)
    123. Congenital central hypoventilation syndrome with hyperinsulinism in a preterm infant. (PubMed id 18340402)9 Hennewig U....Hoehn T. (J. Hum. Genet. 2008)
    124. Effects of temperature on ventilatory response to hypercapnia in newborn mice heterozygous for transcription factor Phox2b. (PubMed id 17715184)9 Ramanantsoa N....Gallego J. (Am. J. Physiol. Regul. Integr. Comp. Physiol. 2007)
    125. Late-onset central hypoventilation syndrome: a family genetic study. (PubMed id 17264323)9 Doherty L.S....McNicholas W.T. (Eur. Respir. J. 2007)
    126. Congenital central hypoventilation syndrome and Hirschsprung's disease in an extremely preterm infant. (PubMed id 15930201)9 Bajaj R....Kluckow M. (Pediatrics 2005)
    127. Molecular control of ciliary neuron development: BMPs and downstream transcriptional control in the parasympathetic lineage. (PubMed id 12421710)9 MA1ller F. and Rohrer H. (Development 2002)
    128. Task2 potassium channels set central respiratory CO2 and O2 sensitivity. (PubMed id 20133877)9 Gestreau C....Barhanin J. (Proc. Natl. Acad. Sci. U.S.A. 2010)
    129. Chemosensitivity recovery in Ondine's curse syndrome under treatment with desogestrel. (PubMed id 20303419)9 Straus C....Similowski T. (amp 2010)
    130. Cerebral MRI abnormalities in a premature infant with later confirmed congenital central hypoventilation syndrome. (PubMed id 19953265)9 van Delft E....Bambang Oetomo S. (Eur. J. Pediatr. 2010)
    131. Novel MLPA procedure using self-designed probes allows comprehensive analysis for CNVs of the genes involved in Hirschsprung disease. (PubMed id 20459765)9 SA!nchez-MejA-as A....Borrego S. (BMC Med. Genet. 2010)
    132. Cor pulmonale due to congenital central hypoventilation syndrome presenting in adolescence. (PubMed id 19584633)9 Fine-Goulden M.R....Durward A. (Pediatr Crit Care Med 2009)
    133. Central congenital hypoventilation syndrome: changing face of a less mysterious but more complex genetic disorder. (PubMed id 19452387)9 Grigg-Damberger M. and Wells A. (Semin Respir Crit Care Med 2009)
    134. The Phox2 pathway is differentially expressed in neuroblastoma tumors, but no mutations were found in the candidate tumor suppressor gene PHOX2A. (PubMed id 19212675)9 WilzAcn A....Abel F. (Int. J. Oncol. 2009)
    135. Congenital Central Hypoventilation syndrome (Ondine's curse): prenatal diagnosis and fetal breathing characteristics. (PubMed id 19784002)9 Rajendran G.P....Manning F.A. (J Perinatol 2009)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 8929 HGNC: 9143 AceView: PHOX2B Ensembl:ENSG00000109132 euGenes: HUgn8929
    ECgene: PHOX2B H-InvDB: PHOX2B

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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PHOX2B Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PHOX2B[genesymbol]

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