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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
MalaCards
 

Aliases
for PHOX2B gene

(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


Summaries
for PHOX2B gene

(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 neuroblastoma 2, 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


Genomic Views
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 plasmid: PHOX2B 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

Proteins
for PHOX2B gene

(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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, 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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    OriGene Protein Over-expression Lysate for PHOX2B
    OriGene Custom MassSpec
    OriGene Custom Protein Services for PHOX2B
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for PHOX2B

         		 Search eBioscience for Proteins for PHOX2B 

         		antibodies-online proteins for PHOX2B (2 products) 

         		antibodies-online peptides for PHOX2B

    PHOX2B Antibody Products:

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    antibodies-online antibodies for PHOX2B (41 products) 

    PHOX2B Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for PHOX2B
    Cloud-Clone Corp. CLIAs for PHOX2B
    Search eBioscience for ELISAs for PHOX2B 
    antibodies-online kits for PHOX2B (4 products) 

    Domains /
    Families
    for PHOX2B gene

    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TryGeneCards Plus    		 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


    Function
    for PHOX2B gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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:
       genOway: Develop your customized and physiologically relevant rodent model for PHOX2B

    miRNA
    Products:            		Block miRNA regulation of human, mouse, rat PHOX2B using miScript Target Protectors
    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 plasmid: PHOX2B 3' UTR sequence
    Inhib. RNA
    Products:            		OriGene RNAi products in human, mouse, rat for PHOX2B
    Predesigned siRNA for gene silencing in human, mouse, rat PHOX2B

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for PHOX2B

    Clone
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    OriGene ORF clones in mouse, rat for PHOX2B
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    GenScript: all cDNA clones in your preferred vector: PHOX2B (NM_003924)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PHOX2B

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for PHOX2B 
    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHOX2B


    Localization
    for PHOX2B gene

    (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


    Pathways & Interactions
    for PHOX2B gene

    (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

    		      Powered
    by    		     
    SuperPathContained pathways About
    1SIDS Susceptibility Pathways
    		SIDS Susceptibility Pathways
    2Neural 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



    Drugs & Compounds
    for PHOX2B gene

    (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



    Transcripts
    for PHOX2B gene

    (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
    Products:             		 Block miRNA regulation of human, mouse, rat PHOX2B using miScript Target Protectors
    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 plasmid: PHOX2B 3' UTR sequence
    Inhib. RNA
    Products:             		OriGene RNAi products in human, mouse, rat for PHOX2B
    Predesigned siRNA for gene silencing in human, mouse, rat PHOX2B
    Clone
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    GenScript: all cDNA clones in your preferred vector: PHOX2B (NM_003924)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PHOX2B
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for PHOX2B
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat PHOX2B
      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


    Expression
    for PHOX2B gene

    (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

    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHOX2B

    Orthologs
    for PHOX2B gene

    (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
    for PHOX2B gene

    (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



    Genomic Variants
    for PHOX2B gene

    (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
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    Disorders / Diseases
    for PHOX2B gene

    (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
    neuroblastoma 2    adrenal neuroblastoma    phox2b-related neuroblastoma, susceptibility    central hypoventilation syndrome, congenital, with or without hirschsprung disease
    neuroblastoma, susceptibility    hirschsprung disease ganglioneuroblastoma    neuroblastoma    learning disability
    autonomic dysfunction    central hypoventilation syndrome    congenital central hypoventilation syndrome    hirschsprung's disease
    sudden infant death syndrome    obstructive sleep apnea    type 1 diabetes mellitus

    3 inferred disease relationships 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

    Publications
    for PHOX2B gene

    (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):
    (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)

    External Searches for PHOX2B gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing PHOX2B gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

    TryGeneCards Plus
    Entrez Gene: 8929 HGNC: 9143 AceView: PHOX2B Ensembl:ENSG00000109132 euGenes: HUgn8929
    ECgene: PHOX2B H-InvDB: PHOX2B

    Other Databases showing PHOX2B gene

    (According to HUGE)
    About This Section

    TryGeneCards Plus    		   --

    Specialized Databases showing PHOX2B gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

    TryGeneCards Plus
    NameDescription
    PharmGKB entry for PHOX2B Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PHOX2B[genesymbol]

    Intellectual Property
    for PHOX2B gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus    		Patent Information for PHOX2B gene:
    Search GeneIP for patents involving PHOX2B

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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