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

PHOX2A Gene

protein-coding   GIFtS: 57
GCID: GC11M071950

Paired-Like Homeobox 2a

(Previous names: aristaless (Drosophila) homeobox, aristaless homeobox (Drosophila),...)
(Previous symbols: ARIX, FEOM2)
  19 related diseases
at
MalaCards
 

Aliases
for PHOX2A gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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
FEOM21 2     NCAM22
Aristaless Homeobox Protein Homolog2 3     Aristaless Homeobox Homolog2
PMX2A2 3     Arix Homeodomain Protein2
ARIX1 Homeodomain Protein2 3     Paired Mesoderm Homeobox Protein 2A2
CFEOM22 5     

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


Summaries
for PHOX2A gene

(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 Gene:
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)

GeneCards Summary for PHOX2A Gene: 
PHOX2A (paired-like homeobox 2a) is a protein-coding gene. Diseases associated with PHOX2A include congenital fibrosis of the extraocular muscles, and brown syndrome. 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: 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 Gene


Genomic Views
for PHOX2A 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.2  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 plasmid: PHOX2A 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

Proteins
for PHOX2A gene

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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

Explore proteomics data for PHOX2A at MOPED 

Post-translational modifications:

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

    • PHOX2A Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PHOX2A Protein Expression
    REFSEQ proteins: NP_005160.2  
    ENSEMBL proteins: 
     ENSP00000444845   ENSP00000298231  

    Human Recombinant Protein Products for PHOX2A: 
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    Novus Biologicals PHOX2A Proteins
    Novus Biologicals PHOX2A Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. 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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    Cloud-Clone Corp. ELISAs for PHOX2A 
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    Protein Domains /
    Families
    for PHOX2A gene

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

    3 InterPro protein domains:
     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 domain: 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


    PHOX2A for domains           About GeneDecksing


    Function
    for PHOX2A gene

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

         UniProtKB/Swiss-Prot Summary: 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 Ontology (GO): 4 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:0003677DNA binding ----
    GO:0003700sequence-specific DNA binding transcription factor activity IEA--
    GO:0043565sequence-specific DNA binding ----
         
    PHOX2A for ontologies           About GeneDecksing


    Phenotypes:
         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

    Animal Models:
         Mouse knock-outs for PHOX2A: Phox2atm1Jbr Phox2a/Inppl1Phox2a/tm1Ssch
       inGenious Targeting Laboratory - Custom generated mouse model solutions for PHOX2A 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for PHOX2A

    miRNA
    Products:        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PHOX2A
    7 QIAGEN miScript miRNA Assays for microRNAs that regulate PHOX2A:
    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 plasmid: PHOX2A 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for PHOX2A
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    Gene Editing
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    Clone
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    Cell Line
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    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PHOX2A


    Pathways & Interactions
    for PHOX2A gene

    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for PHOX2A About                                                                                                See pathways by source

    SuperPathContained pathways About
    1SIDS Susceptibility Pathways
    		SIDS Susceptibility Pathways


    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)

    5/10 Interacting proteins for PHOX2A (O148133 ENSP000002982314) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATF6BQ999413, ENSP000003643494I2D: score=1 STRING: ENSP00000364349
    ENSG00000168468Q999413I2D: score=1 
    ENSG00000228628Q999413I2D: score=1 
    ENSG00000234539Q999413I2D: score=1 
    HAND2P612963, ENSP000003525654I2D: score=2 STRING: ENSP00000352565
    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



    Drugs & Compounds
    for PHOX2A gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, IUPHAR, 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 (PHX2A)

    3 Novoseek inferred 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

    Transcripts
    for PHOX2A 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    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.731115  [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
    miRNA
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    7 QIAGEN miScript miRNA Assays for microRNAs that regulate PHOX2A:
    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 plasmid: PHOX2A 3' UTR sequence
    Inhib. RNA
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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PHOX2A
    Primer
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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 mRNA 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):

    CR621077 BQ899131 BC041564 CR607262 CR607218 CR593042 CR596068 BU151137 
    CR600761 CR590341 CR604478 NM_005169 BX376662 BE383103 AL529571 BQ890461 
    BX375756 BQ881657 BI196975 AL522064 BF311651 BE383114 BF310680 BQ070957 

    GeneLoc Exon Structure


    Expression
    for PHOX2A 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™, 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)      PHOX2A embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGCCTGTCC
    PHOX2A Expression
    About this image


    PHOX2A expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/5 selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 18 entries
             Thalamus
             Septum
     
     Spinal Cord (Nervous System)    fully expand to see all 7 entries
             Dorsal Horn
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 3 entries
             autonomic/sympathetic/ganglion
     
     Neural Tube (Nervous System)
             Metencephalon
     
     Gut Tube (Gastrointestinal Tract)
             Foregut

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

    SOURCE GeneReport for Unigene cluster: Hs.731115
        SABiosciences Custom PCR Arrays for PHOX2A
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    In Situ
    Assay Products:     
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    Orthologs
    for PHOX2A 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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for PHOX2A gene from 4/10 species (see all 10)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Phox2a1 , 5 paired-like homeobox 2a1, 5 91.55(n)1
    98.21(a)1    		   7 (54.66 cM)5
    118591  NM_008887.21  NP_032913.11 
     1018183135 
    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
    		 29(a)
    		 1 → many
    		 2R(19770708-19771835)
    worm
    (Caenorhabditis elegans)    		 Secernentea ceh-176
    		 Protein CEH-17
    		 28(a)
    		 1 → many
    		 I(4568962-4570027)


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

    Paralogs
    for PHOX2A gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PHOX2A gene
    ALX12  PHOX2B2  ARX2  RAX2  DRGX2  PRRX12  SHOX22  ALX42  
    ISX2  RAX22  ALX32  SHOX2  OTP2  PRRX22  
    7 SIMAP similar genes for PHOX2A using alignment to 3 protein entries:     PHX2A_HUMAN (see all proteins):
    PRRX1    SHOX2    PHOX2B    PRRX2    DRGX    ARX
    OTP

    PHOX2A for paralogs           About GeneDecksing



    Genomic Variants
    for PHOX2A 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) 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

    68/94 SNPs in PHOX2A are shown (see all 94)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 11 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    VAR_0190144
    		Congenital fibrosis of extraocular muscles 2 (CFEOM2)4--see VAR_0190142 A V mis40--------
    rs1048942691,2
    		Cpathogenic171818464(-) CTCGGC/TAGGTG 2 A V mis10--------
    VAR_0190164
    		----see VAR_0190162 P Q mis40--------
    rs1453804011,2
    		C--71815908(+) ATGCGC/TCGCTG 2 R syn10--------
    rs2003163341,2
    		C--71815970(+) TGCGGA/GTGTGT 1 -- int10--------
    rs2011366871,2
    		--71815976(+) TGTGTG/TCAGGG 1 -- int10--------
    rs1872901801,2
    		--71816390(+) CTGTCA/CGGTCT 1 -- int10--------
    rs342205951,2
    		C--71816429(+) CAGTTC/ATGGGC 1 -- int12Minor allele frequency- A:0.00NA 4
    rs1174765471,2
    		C,F--71816627(+) CTCTTC/ACTAAT 1 -- int11Minor allele frequency- A:0.03NA 120
    rs1476585121,2
    		--71816864(+) CCCCAC/TAGGTA 1 -- int10--------
    rs1414604351,2
    		C--71817017(+) ATCTTC/TGTCAT 1 -- int10--------
    rs1909310651,2
    		--71817057(+) CGCCTC/GATACT 1 -- int10--------
    rs1469975481,2
    		--71817070(+) TCTCTA/TTCTCC 1 -- int10--------
    rs116015231,2
    		C,H--71817102(+) TCCTAG/TGATTT 1 -- int11Minor allele frequency- T:0.00NA 2
    rs358038541,2
    		C,F,H--71817308(+) CCAGCC/TTAGGG 1 -- int13Minor allele frequency- T:0.02NS NA 282
    rs1998348411,2
    		C--71817334(+) CTTCT-/TCTTC 
                TTTTT     		1 -- int10--------
    rs1415371211,2
    		--71817335(+) TTCTT-/CTTC  
                TTTTT     		1 -- int10--------
    rs1826365141,2
    		--71817458(+) CCCAAA/GTAGCT 1 -- int10--------
    rs339100081,2
    		C--71817498(+) GCTAA-/T/TT  
                TTTTT     		1 -- int12NA CSA 4
    rs1863519011,2
    		--71817633(+) ACCGCA/GCCTGG 1 -- int10--------
    rs1899896051,2
    		C--71817884(+) AAAACC/TCGGGC 1 -- int10--------
    rs714777201,2
    		C,F--71818117(+) CTGGGG/AGCCTT 1 -- int12Minor allele frequency- A:0.50NA 4
    rs1177742311,2
    		C,F--71818154(+) TTTAGT/CGGTCA 1 -- int11Minor allele frequency- C:0.03NA 120
    rs782683061,2
    		C,F--71818172(+) CAGGTG/CGTGAG 1 -- int12Minor allele frequency- C:0.17WA EA 238
    rs1829322201,2
    		C--71818523(+) GAGCCA/GAGCGC 2 L syn10--------
    rs124185331,2
    		C,F,H--71819332(+) GAAGGG/AGGATG 1 -- us2k1 trp316Minor allele frequency- A:0.13NS EA NA CSA WA 2220
    rs1874860531,2
    		--71819346(+) ACCGGA/GAAGAG 1 -- us2k10--------
    rs1171917801,2
    		C,F--71819408(+) GAGACC/AGGGAG 1 -- us2k11Minor allele frequency- A:0.03NA 120
    rs1399597391,2
    		C--71819604(+) GAGAC-/AAGAGGA 1 -- us2k10--------
    rs763317461,2
    		F--71819838(+) GAAAAC/TGCCTC 1 -- us2k11Minor allele frequency- T:0.01WA 118
    rs31327881,2
    		C,F,H--71819956(+) CAGGTC/TCCTCT 1 -- us2k19Minor allele frequency- T:0.03NS EA WA NA 924
    rs1501390521,2
    		--71820158(+) CAGGGC/TCCCCC 1 -- us2k10--------
    rs71102601,2
    		C,F,A,H--71820244(+) AGCTCC/TCTCGT 1 -- us2k117Minor allele frequency- T:0.16NS EA NA WA 2338
    rs1381338081,2
    		C--71820350(+) TCAAC-/CCCCAG
                CCCCA     		1 -- cds10--------
    rs1385002491,2
    		--71820521(+) CCTCTC/TCTCAG 1 -- us2k10--------
    rs785801011,2
    		F--71820538(+) CTTCCC/GCCATC 1 -- us2k11Minor allele frequency- G:0.08WA 118
    rs128027371,2
    		C--71820551(+) CCGTTC/TTGGGC 1 -- us2k11Minor allele frequency- T:0.00NA 2
    rs6776851,2
    		C,F,A,H--71820560(-) TCCTGC/GGAAGC 1 -- us2k116Minor allele frequency- G:0.38NS EA NA WA CSA 963
    rs762228281,2
    		C,F--71820582(+) CCCCAA/GTCTCC 1 -- us2k11Minor allele frequency- G:0.02NA 120
    rs1919967181,2
    		--71820613(+) GATTTC/TTTTGA 1 -- us2k10--------
    rs1840843771,2
    		--71820679(+) ATAAAA/GTTTAC 1 -- us2k10--------
    rs128076961,2
    		C,F,H--71820783(+) aaaatC/Taaaac 1 -- us2k111Minor allele frequency- T:0.02NS EA NA 1306
    rs2005569211,2
    		--71951160(+) TTTTG-/GCG   
      CCCGCC    GCGCC     		1 -- cds10--------
    rs1174236571,2
    		C,F--71951312(+) CGCAAG/AGCTCG 1 -- int11Minor allele frequency- A:0.11EA 120
    rs1398422971,2
    		C--71951328(+) GATCCC/TGGTTC 1 -- int10--------
    rs1820390031,2
    		--71951510(+) GGGGAA/CCCTGC 1 -- int10--------
    rs1498228801,2
    		C--71951692(+) ACAAAC/TAGACA 1 -- int10--------
    rs729688721,2
    		C,F--71951999(+) CCTGCT/GGCCTC 1 -- int11Minor allele frequency- G:0.08WA 118
    rs1457863431,2
    		C--71952035(+) CCGCGC/GCCTGC 1 -- int10--------
    rs799085801,2
    		F--71952045(+) CCTTCG/CGGCTG 1 -- int11Minor allele frequency- C:0.08WA 118
    rs1489495101,2
    		--71952077(+) CCCCAA/GGTGTT 1 -- int10--------
    rs1408506641,2
    		C--71955067(+) GGGGGC/TGGGGG 1 -- ut510--------
    rs2002840551,2
    		--71955098(+) GTCGGA/GGTCCG 1 -- ut510--------
    rs710627591,2
    		C--71957208(-) CTGAAA/-AAAAA 1 -- us2k11Minor allele frequency- -:0.00NA 2
    rs346636561,2
    		----71951653(+) GTCAA-/GGCGGG 1 -- int10--------
    rs3730672131,2
    		----71815986(+) GGGCC-/GGGGGG 1 -- int10--------
    rs1135608111,2
    		----71818104(+) TGATAG/AGGCTG 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs349108781,2
    		----71820868(+) TTGTG-/TTTTTT 1 -- us2k10--------
    rs3766295091,2
    		----71819582(+) GACAGG/TGATGA 1 -- us2k10--------
    rs3687076711,2
    		----71815985(+) GGGGGC/TCGGGG 1 -- int10--------
    rs3706695741,2
    		----71957208(+) TTTTT-/TCAGAC 1 -- us2k10--------
    rs3741983271,2
    		----71950799(+) TAGAAC/GAGATT 2 L syn10--------
    rs3764829901,2
    		----71815833(+) TAAATA/GTCGGG 2 D syn10--------
    rs1128956011,2
    		----71951606(+) TGGAGC/AGCAGT 1 -- int11Minor allele frequency- A:0.50CSA 2
    rs1116780331,2
    		----71816323(+) TCCGAC/TCCTTC 1 -- int11Minor allele frequency- T:0.50CSA 2
    rs3696073021,2
    		----71816652(+) ATCTC-/TCTTCAAC 1 -- int10--------
    rs3697512381,2
    		----71950765(+) GGGGGC/TAGGCT 1 -- ut310--------
    rs2015807011,2
    		----71951878(+) CCTCGG/TCCTCC 1 -- int10--------

    HapMap Linkage Disequilibrium report for PHOX2A (71950121 - 71956708 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for PHOX2A:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv26290CNV Loss19812545
    dgv1221n71CNV Loss21882294


    Human Gene Mutation Database (HGMD): PHOX2A
    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for PHOX2A gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, 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
  • Congenital fibrosis of extraocular muscles 2 (CFEOM2) [MIM:602078]: A congenital ocular motility disorder
    • marked by restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear
    nerves. It is clinically characterized by anchoring of the eyes in downward gaze, ptosis, and backward tilt of the
    head. Congenital fibrosis of extraocular muscles type 2 may result from the defective development of the oculomotor
    (nIII), trochlear (nIV) and abducens (nVI) cranial nerve nuclei. Note=The disease is caused by mutations affecting the
    gene represented in this entry

    19 diseases for PHOX2A:    About MalaCards
    congenital fibrosis of the extraocular muscles    brown syndrome    paralytic squint    phox2a-related congenital fibrosis of the extraocular muscles
    hypotropia    exotropia    fibrosis of extraocular muscles, congenital, 1    congenital central hypoventilation syndrome
    mental retardation epilepsy    amblyopia    central hypoventilation syndrome    strabismus
    sudden infant death syndrome    ophthalmoplegia    paralysis    mental retardation
    neuroblastoma    hypertension    neuronitis

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

    3 Novoseek inferred 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

    Publications
    for PHOX2A 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

    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)

    External Searches for PHOX2A gene

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

    Genome Databases showing PHOX2A gene

    (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

    Other Databases showing PHOX2A gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PHOX2A gene

    (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

    Intellectual Property
    for PHOX2A gene

    (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:
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    About This Section

     
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