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Aliases for PHOX2A Gene

Aliases for PHOX2A Gene

  • Paired-Like Homeobox 2a 2 3
  • ARIX 3 4 6
  • Aristaless Homeobox Protein Homolog 3 4
  • ARIX1 Homeodomain Protein 3 4
  • CFEOM2 3 6
  • PMX2A 3 4
  • Aristaless (Drosophila) Homeobox, Aristaless Homeobox (Drosophila), Fibrosis Of Extraocular Muscles, Congenital, 2, Autosomal Recessive 2
  • Paired-Like (Aristaless) Homeobox 2a 2
  • Paired Mesoderm Homeobox Protein 2A 3
  • Aristaless Homeobox Homolog 3
  • Arix Homeodomain Protein 3
  • Paired-Like Homeobox 2A 4
  • NCAM2 3
  • FEOM2 3

External Ids for PHOX2A Gene

Previous Symbols for PHOX2A Gene

  • ARIX
  • FEOM2

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 phox2a-related congenital fibrosis of the extraocular muscles. Among its related pathways are SIDS Susceptibility Pathways and Cell adhesion molecules (CAMs). GO annotations related to this gene include sequence-specific DNA binding transcription factor activity and RNA polymerase II regulatory region sequence-specific DNA binding. An important paralog of this gene is PHOX2B.

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

Genomic Location for PHOX2A Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:

No data available for DME Specific Peptides for PHOX2A Gene

Domains for PHOX2A Gene

Gene Families for PHOX2A Gene

HGNC:
  • PRD :Homeoboxes / PRD class

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
Domain:
  • Contains 1 homeobox DNA-binding domain.:
    • O14813
Family:
  • Belongs to the paired homeobox family.:
    • O14813
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
GO:0003677 DNA binding --
GO:0003700 sequence-specific DNA binding transcription factor activity NAS 8661014
genes like me logo Genes that share ontologies with PHOX2A: view
genes like me logo Genes that share phenotypes with PHOX2A: view

Animal Models for PHOX2A Gene

MGI Knock Outs for PHOX2A:

miRNA for PHOX2A Gene

miRTarBase miRNAs that target PHOX2A
Targeting motifs for PHOX2A Gene
HOMER Transcription Factor Regulatory Elements motif PHOX2A
  • Consensus sequence: YTAATYNRATTA Submotif: canonical Cell Type: Neuron GeoId: GSE31456

No data available for Enzyme Numbers (IUBMB) and Transcription Factor Targeting 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 4

Gene Ontology (GO) - Cellular Components for PHOX2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IDA 16280598
GO:0005634 nucleus --
genes like me logo Genes that share ontologies with PHOX2A: view

Pathways 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
2 KEGG pathways for PHOX2A Gene

Gene Ontology (GO) - Biological Process for PHOX2A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003357 noradrenergic neuron differentiation NAS 16280598
GO:0006351 transcription, DNA-templated IEA --
GO:0021523 somatic motor neuron differentiation IEA --
GO:0021623 oculomotor nerve formation IEA --
GO:0021642 trochlear nerve formation IEA --
genes like me logo Genes that share ontologies with PHOX2A: view

Compounds for PHOX2A Gene

(3) Novoseek inferred chemical compound relationships for PHOX2A Gene

Compound -log(P) Hits PubMed IDs
dopamine 45.9 3
norepinephrine 44.2 2
tyrosine 26.1 2
genes like me logo Genes that share compounds with PHOX2A: view

Transcripts for PHOX2A Gene

mRNA/cDNA for PHOX2A Gene

(1) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(28) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

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 (15.2), Colon - Sigmoid (9.1), Esophagus - Muscularis (5.7), and Esophagus - Gastroesophageal Junction (5.1).

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for PHOX2A Gene

SOURCE GeneReport for Unigene cluster for PHOX2A Gene Hs.731115

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

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
chimpanzee
(Pan troglodytes)
Mammalia PHOX2A 36
  • 93 (a)
OneToOne
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
oppossum
(Monodelphis domestica)
Mammalia PHOX2A 36
  • 75 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Phox2a 35
  • 90.48 (n)
  • 96.79 (a)
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

Selected 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 MAF
rs677685 -- 72,245,855(-) TCCTG(C/G)GAAGC upstream-variant-2KB
rs3132787 -- 72,244,816(+) acagg(G/T)cagag upstream-variant-2KB
rs3132788 -- 72,245,251(+) CAGGT(C/T)CCTCT upstream-variant-2KB
rs7110260 -- 72,245,539(+) AGCTC(C/T)CTCGT upstream-variant-2KB
rs11601523 -- 72,242,428(+) TCCTA(G/T)GATTT intron-variant

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

Relevant External Links for PHOX2A Gene

HapMap Linkage Disequilibrium report
PHOX2A
Human Gene Mutation Database (HGMD)
PHOX2A

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

Disorders for PHOX2A Gene

(1) OMIM Diseases for PHOX2A Gene (602753)

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.

(4) University of Copenhagen DISEASES for PHOX2A Gene

(3) Novoseek inferred disease relationships for PHOX2A Gene

Disease -log(P) Hits PubMed IDs
cfeom2 95.3 7
cfeom 90.5 5
paralysis 22.4 6

Relevant External Links for PHOX2A

GeneTests
PHOX2A
GeneReviews
PHOX2A
Genetic Association Database (GAD)
PHOX2A
Human Genome Epidemiology (HuGE) Navigator
PHOX2A
genes like me logo Genes that share disorders with PHOX2A: view

Publications for PHOX2A Gene

  1. Molecular analysis of congenital central hypoventilation syndrome. (PMID: 14566559) Sasaki A. … Hayasaka K. (Hum. Genet. 2003) 3 4 23
  2. A novel PHOX2A/ARIX mutation in an Iranian family with congenital fibrosis of extraocular muscles type 2 (CFEOM2). (PMID: 14597037) Yazdani A. … Traboulsi E.I. (Am. J. Ophthalmol. 2003) 3 23 48
  3. Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development. (PMID: 15240857) Weese-Mayer D.E. … Marazita M.L. (Pediatr. Res. 2004) 3 23 48
  4. Mapping of the ARIX homeodomain gene to mouse chromosome 7 and human chromosome 11q13. (PMID: 8661014) Johnson K.R. … Lewis E.J. (Genomics 1996) 2 3 4
  5. 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

Products for PHOX2A Gene

Sources for PHOX2A Gene

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