Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PHOX2A Gene

Aliases for PHOX2A Gene

  • Paired Like Homeobox 2a 2 3
  • Aristaless Homeobox Protein Homolog 3 4
  • ARIX1 Homeodomain Protein 3 4
  • Paired-Like Homeobox 2A 4 5
  • PMX2A 3 4
  • ARIX 3 4
  • Aristaless (Drosophila) Homeobox, Aristaless Homeobox (Drosophila), Fibrosis Of Extraocular Muscles, Congenital, 2, Autosomal Recessive 2
  • Paired-Like (Aristaless) Homeobox 2a 2
  • Aristaless Homeobox Homolog 3
  • Arix Homeodomain Protein 3
  • Paired-Like Homeobox 2a 3
  • CFEOM2 3
  • NCAM2 3
  • FEOM2 3

External Ids for PHOX2A Gene

Previous HGNC Symbols for PHOX2A Gene

  • ARIX
  • FEOM2

Previous GeneCards Identifiers for PHOX2A Gene

  • GC11M073490
  • GC11M072172
  • GC11M071676
  • GC11M071627
  • GC11M071950
  • GC11M068243

Summaries for PHOX2A Gene

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 Fibrosis Of Extraocular Muscles, Congenital, 2 and Congenital Fibrosis Of The Extraocular Muscles. Among its related pathways are SIDS Susceptibility Pathways. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and RNA polymerase II regulatory region sequence-specific DNA binding. An important paralog of this gene is PRRX2.

UniProtKB/Swiss-Prot for PHOX2A Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PHOX2A Gene

Genomics for PHOX2A Gene

Regulatory Elements for PHOX2A Gene

Enhancers for PHOX2A Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around PHOX2A on UCSC Golden Path with GeneCards custom track

Genomic Location for PHOX2A Gene

Chromosome:
11
Start:
72,239,077 bp from pter
End:
72,245,664 bp from pter
Size:
6,588 bases
Orientation:
Minus strand

Genomic View for PHOX2A Gene

Genes around PHOX2A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PHOX2A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PHOX2A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PHOX2A Gene

Proteins for PHOX2A Gene

  • Protein details for PHOX2A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14813-PHX2A_HUMAN
    Recommended name:
    Paired mesoderm homeobox protein 2A
    Protein Accession:
    O14813
    Secondary Accessions:
    • A8K3N0
    • Q8IVZ2

    Protein attributes for PHOX2A Gene

    Size:
    284 amino acids
    Molecular mass:
    29653 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PHOX2A Gene

Proteomics data for PHOX2A Gene at MOPED

Post-translational modifications for PHOX2A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PHOX2A Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for PHOX2A Gene

Domains & Families for PHOX2A Gene

Gene Families for PHOX2A Gene

Protein Domains for PHOX2A Gene

Suggested Antigen Peptide Sequences for PHOX2A Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O14813

UniProtKB/Swiss-Prot:

PHX2A_HUMAN :
  • Contains 1 homeobox DNA-binding domain.
  • Belongs to the paired homeobox family.
Domain:
  • Contains 1 homeobox DNA-binding domain.
Family:
  • Belongs to the paired homeobox family.
genes like me logo Genes that share domains with PHOX2A: view

Function for PHOX2A Gene

Molecular function for PHOX2A Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for PHOX2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IDA 16280598
genes like me logo Genes that share ontologies with PHOX2A: view
genes like me logo Genes that share phenotypes with PHOX2A: view

Human Phenotype Ontology for PHOX2A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PHOX2A Gene

MGI Knock Outs for PHOX2A:

Animal Model Products

Targeted motifs for PHOX2A Gene
HOMER Transcription Factor Regulatory Elements motif PHOX2A
  • Consensus sequence: YTAATYNRATTA Submotif: canonical Cell Type: Neuron GEO ID: GSE31456

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targets for PHOX2A Gene

Localization for PHOX2A Gene

Subcellular locations from UniProtKB/Swiss-Prot for PHOX2A Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PHOX2A Gene COMPARTMENTS Subcellular localization image for PHOX2A gene
Compartment Confidence
nucleus 5

No data available for Gene Ontology (GO) - Cellular Components for PHOX2A Gene

Pathways & Interactions for PHOX2A Gene

SuperPathways for PHOX2A Gene

genes like me logo Genes that share pathways with PHOX2A: view

Pathways by source for PHOX2A Gene

1 BioSystems pathway for PHOX2A Gene

SIGNOR curated interactions for PHOX2A Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for PHOX2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0021623 oculomotor nerve formation IEA --
GO:0021642 trochlear nerve formation IEA --
GO:0021703 locus ceruleus development IEA --
GO:0030901 midbrain development IEA --
genes like me logo Genes that share ontologies with PHOX2A: view

Drugs & Compounds for PHOX2A Gene

(3) Drugs for PHOX2A Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with PHOX2A: view

Transcripts for PHOX2A Gene

mRNA/cDNA for PHOX2A Gene

Unigene Clusters for PHOX2A Gene

Paired-like homeobox 2a:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PHOX2A Gene

No ASD Table

Relevant External Links for PHOX2A Gene

GeneLoc Exon Structure for
PHOX2A
ECgene alternative splicing isoforms for
PHOX2A

Expression for PHOX2A Gene

mRNA expression in normal human tissues for PHOX2A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PHOX2A Gene

This gene is overexpressed in Adrenal Gland (x15.2), Colon - Sigmoid (x9.1), Esophagus - Muscularis (x5.7), and Esophagus - Gastroesophageal Junction (x5.1).

Protein differential expression in normal tissues from HIPED for PHOX2A Gene

This gene is overexpressed in Monocytes (54.6) and Adipocyte (14.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PHOX2A Gene



SOURCE GeneReport for Unigene cluster for PHOX2A Gene Hs.731115

genes like me logo Genes that share expression patterns with PHOX2A: view

Protein tissue co-expression partners for PHOX2A Gene

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for PHOX2A Gene

Orthologs for PHOX2A Gene

This gene was present in the common ancestor of animals.

Orthologs for PHOX2A Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia PHOX2A 35
  • 92.96 (n)
  • 98.59 (a)
PHOX2A 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PHOX2A 35
  • 93.08 (n)
  • 98.94 (a)
PHOX2A 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Phox2a 35
  • 91.19 (n)
  • 97.86 (a)
Phox2a 16
Phox2a 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Phox2a 35
  • 90.48 (n)
  • 96.79 (a)
oppossum
(Monodelphis domestica)
Mammalia PHOX2A 36
  • 75 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia PHOX2A 36
  • 93 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 35 (a)
ManyToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia phox2a 35
  • 67.64 (n)
  • 69.09 (a)
zebrafish
(Danio rerio)
Actinopterygii phox2a 35
  • 70.16 (n)
  • 67.87 (a)
phox2a 36
  • 66 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta PHDP 36
  • 34 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ceh-17 36
  • 34 (a)
OneToMany
Species with no ortholog for PHOX2A:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PHOX2A Gene

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

Paralogs for PHOX2A Gene

Paralogs for PHOX2A Gene

(6) SIMAP similar genes for PHOX2A Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with PHOX2A: view

Variants for PHOX2A Gene

Sequence variations from dbSNP and Humsavar for PHOX2A Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
VAR_019014 Fibrosis of extraocular muscles, congenital, 2 (CFEOM2)
VAR_019016 -
rs677685 -- 72,245,855(-) TCCTG(C/G)GAAGC upstream-variant-2KB
rs11601523 -- 72,242,428(+) TCCTA(G/T)GATTT intron-variant
rs71062759 -- 72,246,168(-) GTCTG(-/A)AAAAA upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for PHOX2A Gene

Variant ID Type Subtype PubMed ID
dgv1221n71 CNV Loss 21882294
esv26290 CNV Loss 19812545

Variation tolerance for PHOX2A Gene

Gene Damage Index Score: 2.47; 43.31% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PHOX2A Gene

Human Gene Mutation Database (HGMD)
PHOX2A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PHOX2A Gene

Disorders for PHOX2A Gene

MalaCards: The human disease database

(14) MalaCards diseases for PHOX2A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PHX2A_HUMAN
  • Fibrosis of extraocular muscles, congenital, 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. {ECO:0000269 PubMed:11600883}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PHOX2A

Genetic Association Database (GAD)
PHOX2A
Human Genome Epidemiology (HuGE) Navigator
PHOX2A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PHOX2A
genes like me logo Genes that share disorders with PHOX2A: view

No data available for Genatlas for PHOX2A Gene

Publications for PHOX2A Gene

  1. Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. (PMID: 11600883) Nakano M. … Engle E.C. (Nat. Genet. 2001) 2 3 4 67
  2. The Phox2 pathway is differentially expressed in neuroblastoma tumors, but no mutations were found in the candidate tumor suppressor gene PHOX2A. (PMID: 19212675) WilzAcn A. … Abel F. (Int. J. Oncol. 2009) 3 23
  3. Effects of transcription factors Phox2 on expression of norepinephrine transporter and dopamine beta-hydroxylase in SK-N-BE(2)C cells. (PMID: 19573018) Fan Y. … Zhu M.Y. (J. Neurochem. 2009) 3 23
  4. Clinical features, ARIX and PHOX2B nucleotide changes in three families with congenital superior oblique muscle palsy. (PMID: 18323871) Imai S. … Ohtsuki H. (Acta Med. Okayama 2008) 3 23
  5. PHOX2A and PHOX2B genes are highly co-expressed in human neuroblastoma. (PMID: 18949361) Longo L. … Perri P. (Int. J. Oncol. 2008) 3 23

Products for PHOX2A Gene

Sources for PHOX2A Gene

Content