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PHOX2A Gene(Protein Coding)

Paired Like Homeobox 2a

GCID:
GC11M072239
GIFtS:
51
Genes Participants
UDN Logo

Aliases for PHOX2A Gene

Aliases for PHOX2A Gene

  • Paired Like Homeobox 2a 2 3 5
  • Aristaless Homeobox Protein Homolog 3 4
  • ARIX1 Homeodomain Protein 3 4
  • Paired-Like Homeobox 2A 3 4
  • 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
  • Paired Mesoderm Homeobox Protein 2A 3
  • Aristaless Homeobox Homolog 3
  • Arix Homeodomain Protein 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 Tukel Syndrome. Among its related pathways are Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. Gene Ontology (GO) annotations related to this gene include 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

Additional gene information for PHOX2A Gene

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

Genomics for PHOX2A Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for PHOX2A Gene

Promoters and enhancers for PHOX2A Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH11I072244 Promoter 0.7 EPDnew 550.8 +1.5 1468 0.1 POLR2A SIN3A EZH2 PHOX2A GC11M072240 GC11P072220
GH11I072245 Enhancer 0.5 ENCODE 550.8 +1.1 1092 0.2 SP1 FOXK2 ZNF143 SIN3A RCOR1 CHD2 EZH2 PHOX2A FOLR3 GC11M072240 GC11P072220
GH11I072037 Promoter/Enhancer 1.7 Ensembl ENCODE dbSUPER 10 +204.8 204815 6.7 HDGF PKNOX1 CLOCK FOXA2 SMAD1 MLX ARID4B NEUROD1 SIN3A FEZF1 NUMA1 LRTOMT FAM86C1 LOC100128494 LAMTOR1 ANAPC15 FOLR3 IL18BP RNF121 PHOX2A
GH11I072189 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 11.1 +54.6 54604 3.8 HDAC1 KLF1 MXI1 TEAD4 MAX ZFHX2 CTBP1 EGR1 POLR2A SMC3 GC11P072192 GC11P072193 GC11P072194 GC11P072195 FOLR1 FOLR3 PHOX2A NUMA1 ENSG00000256403 LRTOMT
GH11I072143 Enhancer 1.2 Ensembl ENCODE dbSUPER 10.4 +101.0 100956 2.8 RB1 BATF RAD21 RFX5 SCRT2 ZNF143 FOS ATF7 RUNX3 CREM FOLR3 NUMA1 LOC100128494 IL18BP ZNF705E ANAPC15 LAMTOR1 LRTOMT PHOX2A RNF121
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PHOX2A on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PHOX2A gene promoter:

Genomic Locations for PHOX2A Gene

Genomic Locations for PHOX2A Gene
chr11:72,239,077-72,245,664
(GRCh38/hg38)
Size:
6,588 bases
Orientation:
Minus strand
chr11:71,950,121-71,956,708
(GRCh37/hg19)

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 Structure • Gene Density

RefSeq DNA sequence for PHOX2A Gene

Proteins for PHOX2A Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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

Protein Expression for PHOX2A Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for PHOX2A Gene

No Post-translational modifications

Other Protein References for PHOX2A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PHOX2A Gene

Domains & Families for PHOX2A Gene

Gene Families for PHOX2A Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for PHOX2A Gene

InterPro:
Blocks:
ProtoNet:

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 :
  • Belongs to the paired homeobox family.
Family:
  • Belongs to the paired homeobox family.
genes like me logo Genes that share domains with PHOX2A: view

Function for PHOX2A Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

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 IEA --
GO:0003700 DNA binding transcription factor activity NAS 8661014
GO:0043565 sequence-specific DNA binding IEA --
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

CRISPR Products

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

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog and Transcription Factor Targets for PHOX2A Gene

Localization for PHOX2A Gene

Subcellular locations from UniProtKB/Swiss-Prot for PHOX2A Gene

Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PHOX2A gene
Compartment Confidence
nucleus 5
cytoskeleton 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (2)
  • Nucleus (2)
  • Vesicles (2)
See all subcellular structures

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 IEA --
genes like me logo Genes that share ontologies with PHOX2A: view

Pathways & Interactions for PHOX2A Gene

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

Pathways by source 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:0003357 noradrenergic neuron differentiation NAS,IEA 16280598
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0021523 somatic motor neuron differentiation IEA --
GO:0021623 oculomotor nerve formation IEA --
genes like me logo Genes that share ontologies with PHOX2A: view

Drugs & Compounds for PHOX2A Gene

Products:

  1. Drug

(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

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

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:

CRISPR Products

Inhibitory RNA Products

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

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PHOX2A Gene

mRNA expression in normal human tissues for PHOX2A Gene
mRNA expression by BioGPS for PHOX2A GenemRNA expression by GTEx 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



Protein tissue co-expression partners for PHOX2A Gene

NURSA nuclear receptor signaling pathways regulating expression of PHOX2A Gene:

PHOX2A

SOURCE GeneReport for Unigene cluster for PHOX2A Gene:

Hs.731115

Evidence on tissue expression from TISSUES for PHOX2A Gene

  • Nervous system(4.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PHOX2A Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • eyelid
  • face
  • forehead
  • head
  • lip
  • skull
Thorax:
  • chest wall
  • rib
  • rib cage
  • sternum
Pelvis:
  • pelvis
  • rectum
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with PHOX2A: view

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
dog
(Canis familiaris)
 Mammalia PHOX2A 33 34
  • 93.08 (n)
chimpanzee
(Pan troglodytes)
 Mammalia PHOX2A 34
  • 93 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia PHOX2A 33 34
  • 92.96 (n)
mouse
(Mus musculus)
 Mammalia Phox2a 33 16 34
  • 91.19 (n)
rat
(Rattus norvegicus)
 Mammalia Phox2a 33
  • 90.48 (n)
oppossum
(Monodelphis domestica)
 Mammalia PHOX2A 34
  • 75 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia -- 34
  • 35 (a)
 ManyToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia phox2a 33
  • 67.64 (n)
zebrafish
(Danio rerio)
 Actinopterygii phox2a 33 34
  • 70.16 (n)
fruit fly
(Drosophila melanogaster)
 Insecta PHDP 34
  • 34 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea ceh-17 34
  • 34 (a)
 OneToMany
Species where no ortholog for PHOX2A was found in the sources mined by GeneCards:
  • 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 Variation AA Info Type
rs104894269 pathogenic, Fibrosis of extraocular muscles, congenital, 2, Fibrosis of extraocular muscles, congenital, 2 (CFEOM2) [MIM:602078] 72,243,790(-) G/A coding_sequence_variant, missense_variant
rs886038557 likely-benign, not specified 72,243,769(-) G/T intron_variant
rs140850664 benign, not specified 72,244,023(-) C/T 5_prime_UTR_variant
rs182932220 benign, not specified 72,243,849(-) G/A coding_sequence_variant, synonymous_variant
rs1000006533 -- 72,245,809(-) C/A upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
esv26290 CNV loss 19812545
nsv1069605 CNV deletion 25765185
nsv555405 CNV loss 21841781
nsv951038 CNV deletion 24416366

Variation tolerance for PHOX2A Gene

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

Additional Variant Information for PHOX2A Gene

Human Gene Mutation Database (HGMD)
PHOX2A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PHOX2A

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

Disorders for PHOX2A Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
fibrosis of extraocular muscles, congenital, 2
  • cfeom2
tukel syndrome
  • fibrosis of extraocular muscles, congenital, with ulnar hand anomalies
brown syndrome
  • brwns
hypotropia
exotropia
  • divergent concomitant strabismus
- 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.

Additional Disease Information for PHOX2A

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

No data available for Genatlas for PHOX2A Gene

Publications for PHOX2A Gene

  1. Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development. (PMID: 15240857) Weese-Mayer DE … Marazita ML (Pediatric research 2004) 3 22 44 58
  2. Molecular analysis of congenital central hypoventilation syndrome. (PMID: 14566559) Sasaki A … Hayasaka K (Human genetics 2003) 3 4 22 58
  3. A novel PHOX2A/ARIX mutation in an Iranian family with congenital fibrosis of extraocular muscles type 2 (CFEOM2). (PMID: 14597037) Yazdani A … Traboulsi EI (American journal of ophthalmology 2003) 3 22 44 58
  4. Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2. (PMID: 11600883) Nakano M … Engle EC (Nature genetics 2001) 2 3 4 58
  5. Mapping of the ARIX homeodomain gene to mouse chromosome 7 and human chromosome 11q13. (PMID: 8661014) Johnson KR … Lewis EJ (Genomics 1996) 2 3 4 58

Products for PHOX2A Gene

Sources for PHOX2A Gene

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