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
External Ids for PHOX2A Gene
- HGNC: 691
- Entrez Gene: 401
- Ensembl: ENSG00000165462
- OMIM: 602753
- UniProtKB: O14813
Previous HGNC Symbols for PHOX2A Gene
- ARIX
- FEOM2
Previous GeneCards Identifiers for PHOX2A Gene
- GC11M073490
- GC11M072172
- GC11M071676
- GC11M071627
- GC11M071950
- GC11M068243
Summaries 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.
Additional gene information for PHOX2A Gene
- Monarch Initiative
- Search for PHOX2A at DataMed
- Search for PHOX2A at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PHOX2A Gene
Genomics for PHOX2A Gene
GeneHancer (GH) Regulatory Elements for PHOX2A Gene
- Top Transcription factor binding sites by QIAGEN in the PHOX2A gene promoter:
Regulatory Element Products
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
- Cytogenetic band:
-
- 11q13.4 by Ensembl
- 11q13.4 by Entrez Gene
- 11q13.4 by HGNC


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
- A8K3N0
- Q8IVZ2
Protein attributes for PHOX2A Gene
- Size:
- 284 amino acids
- Molecular mass:
- 29653 Da
- Quaternary structure:
- No Data Available
Protein Expression for PHOX2A Gene
Post-translational modifications for PHOX2A Gene
Other Protein References for PHOX2A Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for PHOX2A
-
Abcam antibodies for PHOX2A
- Invitrogen Antibodies for PHOX2A
- Search GeneTex for Antibodies for PHOX2A
-
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-
Santa Cruz Biotechnology (SCBT) Antibodies for PHOX2A
Protein Products
-
OriGene Purified Proteins for PHOX2A
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Quality Products:
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Abcam proteins for PHOX2A
Assay Products
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- Family:
-
- Belongs to the paired homeobox family.
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.
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 | -- |
Phenotypes for PHOX2A Gene
- MGI mutant phenotypes for PHOX2A:
- inferred from 6 alleles
- GenomeRNAi human phenotypes for PHOX2A:
Animal Models for PHOX2A Gene
- MGI Knock Outs for PHOX2A:
-
- Phox2a tm1.1Sgu
- Phox2a tm1Jbr
- Phox2a/Inppl1 tm1Ssch
- Phox2a tm1Sgu
Animal Model Products
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-
-
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-
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CRISPR Products
-
OriGene CRISPR knockouts for PHOX2A
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-
Vectors and viruses for KO, Activation, Repression, and more
-
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miRNA for PHOX2A Gene
- miRTarBase miRNAs that target PHOX2A
Targeted motifs for PHOX2A Gene
- Consensus sequence: YTAATYNRATTA Submotif: canonical Cell Type: Neuron GEO ID: GSE31456
miRNA Products
- Search ViGene Biosciences for PHOX2A
Inhibitory RNA Products
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Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available PHOX2A gene related products
- orf clones - Search results for available PHOX2A gene related products
- Applied Biological Materials Clones for PHOX2A
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
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Horizon Cell Lines for PHOX2A
-
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-
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-
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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.
- Nuclear membrane (2)
- Nucleus (2)
- Vesicles (2)
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | IDA | 16280598 |
GO:0005634 | nucleus | IEA | -- |
Pathways & Interactions for PHOX2A Gene
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways |
Pathways by source for PHOX2A Gene
1 BioSystems pathway for PHOX2A Gene
Interacting Proteins 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 | -- |
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
CRISPR Products
-
OriGene CRISPR knockouts for PHOX2A
- genomics-online: gRNA clones - Search results for available PHOX2A gene related products
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-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for PHOX2A
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miRNA Products
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Inhibitory RNA Products
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-
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Clone Products
- Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat
- VectorBuilder custom plasmid, inducible vectors for PHOX2A
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-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- genomics-online: cdna clones - Search results for available PHOX2A gene related products
- orf clones - Search results for available PHOX2A gene related products
- Applied Biological Materials Clones for PHOX2A
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for PHOX2A Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Neural Tube (Nervous System)
- Brain (Nervous System)
mRNA differential expression in normal tissues according to GTEx for PHOX2A Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PHOX2A Gene
NURSA nuclear receptor signaling pathways regulating expression of PHOX2A Gene:
PHOX2ASOURCE GeneReport for Unigene cluster for PHOX2A Gene:
Hs.731115Evidence 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
- ectoderm
- mesoderm
- digestive
- integumentary
- nervous
- skeletal muscle
- skeleton
- brain
- cranial nerve
- eye
- eyelid
- face
- forehead
- head
- lip
- skull
- chest wall
- rib
- rib cage
- sternum
- pelvis
- rectum
- digit
- finger
- foot
- hand
- lower limb
- toe
- upper limb
- hair
- peripheral nervous system
- skin
- spinal column
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for PHOX2A
-
OriGene qPCR primer pairs and template standards for PHOX2A
- genomics-online: primer clones - Search results for available PHOX2A gene related 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.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
dog (Canis familiaris) |
Mammalia | PHOX2A 33 34 |
|
||
chimpanzee (Pan troglodytes) |
Mammalia | PHOX2A 34 |
|
OneToOne | |
cow (Bos Taurus) |
Mammalia | PHOX2A 33 34 |
|
||
mouse (Mus musculus) |
Mammalia | Phox2a 33 16 34 |
|
||
rat (Rattus norvegicus) |
Mammalia | Phox2a 33 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | PHOX2A 34 |
|
OneToOne | |
lizard (Anolis carolinensis) |
Reptilia | -- 34 |
|
ManyToMany | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | phox2a 33 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | phox2a 33 34 |
|
||
fruit fly (Drosophila melanogaster) |
Insecta | PHDP 34 |
|
OneToMany | |
worm (Caenorhabditis elegans) |
Secernentea | ceh-17 34 |
|
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)
Paralogs for PHOX2A Gene
Variants 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 |
Additional Variant Information for PHOX2A Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PHOX2A Gene
Disorders for PHOX2A Gene

(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 |
|
|
tukel syndrome |
|
|
brown syndrome |
|
|
hypotropia |
|
|
exotropia |
|
|
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
No data available for Genatlas for PHOX2A Gene
Publications for PHOX2A Gene
- 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
- Molecular analysis of congenital central hypoventilation syndrome. (PMID: 14566559) Sasaki A … Hayasaka K (Human genetics 2003) 3 4 22 58
- 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
- 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
- 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
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- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- antibodies-online: Search results for 66 available PHOX2A Antibodies ranked by validation data
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- antibodies-online: Search results for available PHOX2A related products ranked by validation data
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- Quality Products:
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Sources for PHOX2A Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
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