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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PHOX2A Gene

protein-coding   GIFtS: 56
GCID: GC11M071950

paired-like homeobox 2a

(Previous names: aristaless (Drosophila) homeobox, aristaless homeobox (Drosophila),...)
(Previous symbols: ARIX, FEOM2)
 Explore 18 diseases affiliated with
PHOX2A via our new
 Human Malady Compendium 
Biological research products
for PHOX2A
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Paired-Like Homeobox 2a1 2 3     Aristaless (Drosophila) Homeobox, Aristaless Homeobox (Drosophila), Fibrosis Of
Extraocular Muscles, Congenital, 2, Autosomal Recessive1
ARIX1 2 3 5     Paired-Like (Aristaless) Homeobox 2a1
PMX2A1 2 3     NCAM22
CFEOM21 2 5     Aristaless Homeobox Homolog2
FEOM21 2     Arix Homeodomain Protein2
Aristaless Homeobox Protein Homolog2 3     Paired Mesoderm Homeobox Protein 2A2
ARIX1 Homeodomain Protein2 3     

External Ids:    HGNC: 6911   Entrez Gene: 4012   Ensembl: ENSG000001654627   OMIM: 6027535   UniProtKB: O148133   

Export aliases for PHOX2A gene to outside databases

Previous GC identifers: GC11M073490 GC11M072172 GC11M071676 GC11M071627 GC11M068243


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for PHOX2A:
The protein encoded by this gene contains a paired-like homeodomain most similar to that of the Drosophila aristaless
gene product. The encoded protein plays a central role in development of the autonomic nervous system. It regulates
the expression of tyrosine hydroxylase and dopamine beta-hydroxylase, two catecholaminergic biosynthetic enzymes
essential for the differentiation and maintenance of the noradrenergic neurotransmitter phenotype. The encoded protein
has also been shown to regulate transcription of the alpha3 nicotinic acetylcholine receptor gene. Mutations in this
gene have been associated with autosomal recessive congenital fibrosis of the extraocular muscles. (provided by
RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: PHX2A_HUMAN, O14813
Function: May be involved in regulating the specificity of expression of the catecholamine biosynthetic genes. Acts as
a transcription activator/factor. Could maintain the noradrenergic phenotype

Gene Wiki entry for PHOX2A


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_167190.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PHOX2A gene promoter:
         GATA-3   Pax-5   AP-2alpha isoform 3   Nkx2-5   AP-2alpha isoform 2   GATA-2   GATA-1   AP-2alpha isoform 4   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPHOX2A promoter sequence
   Search SABiosciences Chromatin IP Primers for PHOX2A

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PHOX2A


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

Entrez Gene cytogenetic band: 11q13.2   Ensembl cytogenetic band:  11q13.4   HGNC cytogenetic band: 11q13.4

PHOX2A Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PHOX2A gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M071950:  view genomic region     (about GC identifiers)

Start:
71,950,121 bp from pter      End:
71,956,708 bp from pter
Size:
6,588 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: PHX2A_HUMAN, O14813 (See protein sequence)
Recommended Name: Paired mesoderm homeobox protein 2A  
Size: 284 amino acids; 29653 Da
Subcellular location: Nucleus (By similarity)
Secondary accessions: A8K3N0 Q8IVZ2

Explore the universe of human proteins at neXtProt for PHOX2A: NX_O14813

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O14813

  • PHOX2A Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005160.2  
    ENSEMBL proteins: 
     ENSP00000444845   ENSP00000298231  

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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for PHOX2A

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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


    PHOX2A for ontologies           About GeneDecksing



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

    PHOX2A for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR017970 Homeobox_CS
     IPR001356 Homeodomain
     IPR009057 Homeodomain-like

    Graphical View of Domain Structure for InterPro Entry O14813

    ProtoNet protein and cluster: O14813

    1 Blocks protein family: IPB000047 Lambda and other repressor helix-turn-helix signature

    UniProtKB/Swiss-Prot: PHX2A_HUMAN, O14813
    Similarity: Belongs to the paired homeobox family
    Similarity: Contains 1 homeobox DNA-binding domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: PHX2A_HUMAN, O14813
    Function: May be involved in regulating the specificity of expression of the catecholamine biosynthetic genes. Acts as
    a transcription activator/factor. Could maintain the noradrenergic phenotype

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PHOX2A
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    hsa-miR-607 hsa-miR-4254 hsa-miR-330-5p hsa-miR-326 hsa-miR-486-3p hsa-miR-1224-5p hsa-miR-1305
    SwitchGear 3'UTR luciferase reporter plasmidPHOX2A 3' UTR sequence
    Inhib. RNA
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000977RNA polymerase II regulatory region sequence-specific DNA binding IDA16280598
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--


    PHOX2A for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for PHOX2A: Phox2atm1Jbr Phox2a/Inppl1Phox2a/tm1Ssch
         8 MGI mutant phenotypes (inferred from 6 alleles(MGI details for Phox2a):
     behavior/neurological  cellular  growth/size  homeostasis/metabolism  mortality/aging 
     nervous system  no phenotypic analysis  respiratory system 

    PHOX2A for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1SIDS Susceptibility Pathways
    SIDS Susceptibility Pathways1.00


    1 BioSystems Pathway for PHOX2A 
        SIDS Susceptibility Pathways


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PHOX2A

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    5/7 Interacting proteins for PHOX2A (O148133 ENSP000002982314) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HAND2P612963, ENSP000003525654I2D: score=2 STRING: ENSP00000352565
    JUNP054123, ENSP000003602664I2D: score=1 STRING: ENSP00000360266
    PRKACAP176123, ENSP000003095914I2D: score=1 STRING: ENSP00000309591
    ATF6BQ999413, ENSP000003643494I2D: score=1 STRING: ENSP00000364349
    CREBBPQ927933, ENSP000002623674I2D: score=2 STRING: ENSP00000262367
    About this table

    Gene Ontology (GO): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003357noradrenergic neuron differentiation NAS16280598
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006355regulation of transcription, DNA-dependent ----
    GO:0021523somatic motor neuron differentiation IEA--
    GO:0021623oculomotor nerve formation IEA--


    PHOX2A for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PHOX2A for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PHOX2A
    3 Novoseek chemical compound relationships for PHOX2A gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dopamine 45.9 4 16280598 (1), 14506227 (1), 18572378 (1)
    norepinephrine 44.2 2 14512028 (1), 16280598 (1)
    tyrosine 26.1 2 8613746 (1), 10624949 (1)

    Search CenterWatch for drugs/clinical trials and news about PHOX2A / PHX2A 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for PHOX2A gene: 
    NM_005169.3  

    Unigene Cluster for PHOX2A:

    Paired-like homeobox 2a
    Hs.731565  [show with all ESTs]
    Unigene Representative Sequence: NM_005169
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000546310 ENST00000298231(uc001osh.4) ENST00000544057

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    hsa-miR-607 hsa-miR-4254 hsa-miR-330-5p hsa-miR-326 hsa-miR-486-3p hsa-miR-1224-5p hsa-miR-1305
    SwitchGear 3'UTR luciferase reporter plasmidPHOX2A 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PHOX2A
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PHOX2A

    Additional cDNA sequence: 

    AK290645.1 BC041564.1 

    8 DOTS entries:

    DT.91698778  DT.120744895  DT.446512  DT.100792229  DT.100832859  DT.91760053  DT.91760060  DT.95190629 

    24/28 AceView cDNA sequences (see all 28):

    CR607262 CR593042 CR621077 BC041564 CR600761 CR596068 NM_005169 BU151137 
    CR607218 CR604478 CR590341 BQ899131 BI196975 AL522064 BQ881657 BX375756 
    BX376662 BE383103 AL529571 BQ890461 BQ070957 BF311651 BE383114 BE313749 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PHOX2A expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGGCCTGTCC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See PHOX2A Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PHOX2A

    SOURCE GeneReport for Unigene cluster: Hs.731565
        SABiosciences Custom PCR Arrays for PHOX2A
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    In Situ
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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for PHOX2A gene from 5/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves F1NMR7_CHICK6
    Uncharacterized protein
    54(a)
    possible ortholog
    4(70341621-70359039)
    lizard
    (Anolis carolinensis)
    Reptilia PHOX2B6
    --
    83(a)
    possible ortholog
    5(100920164-100920370)
    zebrafish
    (Danio rerio)
    Actinopterygii phox2a1 paired-like homeobox 2a 69.55(n)
    67.87(a)
      404602  NM_207070.1  NP_996953.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta PHDP6
    Putative homeodomain protein
    27(a)
    1 → many
    2R(19770708-19771835)
    worm
    (Caenorhabditis elegans)
    Secernentea ceh-176
    alr-16
    Homeobox family member (ceh-17)
    AristaLess (Drosophila homeodomain) Related family...
    26(a)
    17(a)
    1 ↔ many
    possible ortholog
    I(4568963-4570028)
    X(11122531-11125549)


    ENSEMBL Gene Tree for PHOX2A (if available)
    TreeFam Gene Tree for PHOX2A (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PHOX2A gene
    ALX12  PITX12  PHOX2B2  RAX2  ARX2  VSX12  PRRX12  DRGX2  
    PITX22  VSX22  ISX2  ALX42  RAX22  PITX32  ALX32  PRRX22  
    6 SIMAP similar genes for PHOX2A using alignment to 3 protein entries:     PHX2A_HUMAN (see all proteins):
    PRRX1    PHOX2B    PRRX2    DRGX    ARX    OTP

    PHOX2A for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/83 NCBI SNPs in PHOX2A are shown (see all 83    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs761609151,2
    --68242860(+) GGGTGC/TCTGTG 1 -- ut310--------
    rs709408231,2
    C,--68242884(+) GTACGT/CCTGGG 1 -- ut311Minor allele frequency- C:0.02NA 44
    rs32100361,2
    C,F,H--68243112(+) AGGATC/TTCACC 1 -- ut316Minor allele frequency- T:0.02EA NS NA 516
    rs803403471,2
    C,F,--68243550(+) GGCAGC/TGGGCT 1 -- ds50011Minor allele frequency- T:0.02WA 118
    rs567874831,2
    --68243570(+) ACCAGA/CGTAAG 1 -- ds50010--------
    rs98861,2
    C,F,O,A,H,--71949665(+) GTCCTG/CTTTTA 2 -- ut31 ds500113Minor allele frequency- C:0.11MN EA NS NA WA 2636
    rs717261401,2
    C,--71949844(+) GAAAT-/GAAG  
            
    GAATA
    2 -- ut31 ds50010--------
    rs709408241,2
    C,F,--71950012(+) CCTGCT/GCTGGG 2 -- ut31 ds50014Minor allele frequency- G:0.14NA WA EA 404
    rs1444789611,2
    --71950054(+) TCCTCA/GCAGGT 2 -- ds5001 ut310--------
    rs1159089471,2
    F,--71950085(+) TGCAAG/TCAGCC 2 -- ds5001 ut311Minor allele frequency- T:0.02WA 118

    HapMap Linkage Disequilibrium report for PHOX2A (71950121 - 71956708 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for PHOX2A
         1 CNV: 71352
    Human Gene Mutation Database (HGMD): PHOX2A

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PHOX2A
    DNA2.0 Custom Variant and Variant Library Synthesis for PHOX2A

    (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

    PHOX2A for disorders           About GeneDecksing

    OMIM gene information: 602753   
    OMIM disorders: 602078  
    UniProtKB/Swiss-Prot: PHX2A_HUMAN, O14813
  • Defects in PHOX2A are the cause of congenital fibrosis of extraocular muscles type 2 (CFEOM2) [MIM:602078].
  • CFEOM encompasses several different inherited strabismus syndromes characterized by congenital restrictive
    ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. CFEOM is
    characterized clinically by anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. CFEOM2 may
    result from the aberrant development of the oculomotor (nIII), trochlear (nIV) and abducens (nVI) cranial nerve nuclei

    18 diseases for PHOX2A:    About MalaCards
    fibrosis of extraocular muscles    congenital fibrosis of the extraocular muscles    fibrosis    x-linked mental retardation with epilepsy
    central hypoventilation syndrome    paralytic squint    sudden infant death syndrome    congenital central hypoventilation syndrome
    mental retardation epilepsy    hypotropia    brown syndrome    exotropia
    amblyopia    strabismus    ptosis    hypertension
    neuroblastoma    neuronitis

    4 diseases from the University of Copenhagen DISEASES database for PHOX2A:
    Exotropia     Ophthalmoplegia     Hypotropia     Paralytic squint

    3 Novoseek disease relationships for PHOX2A gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cfeom2 95.3 12 12324876 (3), 11882252 (2), 14597037 (2)
    cfeom 90.5 7 11882252 (3), 14597037 (1), 15747768 (1)
    paralysis 22.4 9 16049556 (4), 18323871 (2)

    GeneTests: PHOX2A
    Congenital Fibrosis of the Extraocular Muscles

    Genetic Association Database (GAD): PHOX2A
    Human Genome Epidemiology (HuGE) Navigator: PHOX2A (1 document)

    Export disorders for PHOX2A 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

    PubMed articles for PHOX2A gene, integrated from 9 sources (see all 61):
    (articles sorted by number of sources associating them with PHOX2A)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. (PubMed id 11600883)1, 2, 3 Nakano M.... Engle E.C. (2001)
    2. Mapping of the ARIX homeodomain gene to mouse chromosome 7 and human chromosome 11q13. (PubMed id 8661014)1, 2, 3 Johnson K.R.... Lewis E.J. (1996)
    3. A novel PHOX2A/ARIX mutation in an Iranian family with congenital fibrosis of extraocular muscles type 2 (CFEOM2). (PubMed id 14597037)1, 4, 9 Yazdani A....Traboulsi E.I. (2003)
    4. Molecular analysis of congenital central hypoventilation syndrome. (PubMed id 14566559)1, 2, 9 Sasaki A.... Hayasaka K. (2003)
    5. 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. (2004)
    6. 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. (2004)
    7. ARIX and PHOX2B polymorphisms in patients with congenital superior oblique muscle palsy. (PubMed id 16049556)1, 9 Jiang Y....Yasuda T. (2005)
    8. The interaction between dHAND and Arix at the dopamine beta-hydroxylase promoter region is independent of direct dHAND binding to DNA. (PubMed id 14506227)1, 9 Rychlik J.L....Lewis E.J. (2003)
    9. Effects of transcription factors Phox2 on expression of norepinephrine transporter and dopamine beta-hydroxylase in SK-N-BE(2)C cell s. (PubMed id 19573018)1, 9 Fan Y....Zhu M.Y. (2009)
    10. 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. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 401 HGNC: 691 AceView: PHOX2A Ensembl:ENSG00000165462 euGenes: HUgn401
    ECgene: PHOX2A H-InvDB: PHOX2A

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PHOX2A Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/PHOX2A

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for PHOX2A gene:
    Search GeneIP for patents involving PHOX2A

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



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