Details for: PHOX2A

Gene ID: 401

Symbol: PHOX2A

Ensembl ID: ENSG00000165462

Description: paired like homeobox 2A

Associated with

  • Chromatin
    (GO:0000785)
  • Dna-binding transcription activator activity, rna polymerase ii-specific
    (GO:0001228)
  • Dna-binding transcription factor activity
    (GO:0003700)
  • Dna-binding transcription factor activity, rna polymerase ii-specific
    (GO:0000981)
  • Dopaminergic neuron differentiation
    (GO:0071542)
  • Locus ceruleus development
    (GO:0021703)
  • Midbrain development
    (GO:0030901)
  • Noradrenergic neuron differentiation
    (GO:0003357)
  • Nucleus
    (GO:0005634)
  • Oculomotor nerve formation
    (GO:0021623)
  • Positive regulation of transcription by rna polymerase ii
    (GO:0045944)
  • Protein binding
    (GO:0005515)
  • Regulation of respiratory gaseous exchange
    (GO:0043576)
  • Regulation of transcription by rna polymerase ii
    (GO:0006357)
  • Rna polymerase ii transcription regulatory region sequence-specific dna binding
    (GO:0000977)
  • Sequence-specific double-stranded dna binding
    (GO:1990837)
  • Somatic motor neuron differentiation
    (GO:0021523)
  • Sympathetic nervous system development
    (GO:0048485)
  • Trochlear nerve formation
    (GO:0021642)

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 30.3742
    Cell Significance Index: 618.0500
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 5.5741
    Cell Significance Index: 86.2400
  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 5.5123
    Cell Significance Index: 60.7300
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 1.8062
    Cell Significance Index: 30.8800
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 0.5864
    Cell Significance Index: 14.2100
  • Cell Name: thymocyte (CL0000893)
    Fold Change: 0.2612
    Cell Significance Index: 3.3000
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 0.1409
    Cell Significance Index: 1.0200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0966
    Cell Significance Index: 52.7600
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.0813
    Cell Significance Index: 1.1200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.0675
    Cell Significance Index: 1.8100
  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: 0.0408
    Cell Significance Index: 0.3600
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.0149
    Cell Significance Index: 0.3700
  • Cell Name: squamous epithelial cell (CL0000076)
    Fold Change: 0.0115
    Cell Significance Index: 0.1400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0008
    Cell Significance Index: 0.1600
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0021
    Cell Significance Index: -4.0200
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0033
    Cell Significance Index: -1.8700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0037
    Cell Significance Index: -6.8200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0052
    Cell Significance Index: -7.1100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0059
    Cell Significance Index: -4.3900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0064
    Cell Significance Index: -4.0700
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0071
    Cell Significance Index: -0.3600
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0083
    Cell Significance Index: -0.3400
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: -0.0103
    Cell Significance Index: -0.0800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0103
    Cell Significance Index: -3.7000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0107
    Cell Significance Index: -4.8700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0113
    Cell Significance Index: -2.0400
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0115
    Cell Significance Index: -0.2400
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0129
    Cell Significance Index: -0.3300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0149
    Cell Significance Index: -4.3000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0157
    Cell Significance Index: -3.1500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0181
    Cell Significance Index: -3.8100
  • Cell Name: myoepithelial cell (CL0000185)
    Fold Change: -0.0185
    Cell Significance Index: -0.2100
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0224
    Cell Significance Index: -3.8200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0254
    Cell Significance Index: -3.6900
  • Cell Name: osteoblast (CL0000062)
    Fold Change: -0.0258
    Cell Significance Index: -0.2500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0263
    Cell Significance Index: -3.6100
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.0275
    Cell Significance Index: -0.3000
  • Cell Name: IgA plasma cell (CL0000987)
    Fold Change: -0.0285
    Cell Significance Index: -0.1900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0330
    Cell Significance Index: -4.0600
  • Cell Name: lung macrophage (CL1001603)
    Fold Change: -0.0347
    Cell Significance Index: -0.3800
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: -0.0385
    Cell Significance Index: -0.4800
  • Cell Name: peridermal cell (CL0000078)
    Fold Change: -0.0401
    Cell Significance Index: -0.2500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0421
    Cell Significance Index: -4.3000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0469
    Cell Significance Index: -5.3700
  • Cell Name: caudal ganglionic eminence derived cortical interneuron (CL4023064)
    Fold Change: -0.0470
    Cell Significance Index: -0.9400
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: -0.0471
    Cell Significance Index: -0.5100
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: -0.0472
    Cell Significance Index: -0.5200
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: -0.0513
    Cell Significance Index: -0.4000
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0538
    Cell Significance Index: -2.4400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0592
    Cell Significance Index: -3.9800
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.0635
    Cell Significance Index: -0.9100
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.0689
    Cell Significance Index: -0.4700
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: -0.0702
    Cell Significance Index: -1.0500
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.0726
    Cell Significance Index: -0.9900
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0786
    Cell Significance Index: -2.7600
  • Cell Name: blood vessel smooth muscle cell (CL0019018)
    Fold Change: -0.0847
    Cell Significance Index: -0.8000
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.0911
    Cell Significance Index: -0.7700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0918
    Cell Significance Index: -4.3100
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0999
    Cell Significance Index: -3.2700
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.1009
    Cell Significance Index: -5.6600
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.1024
    Cell Significance Index: -3.2600
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: -0.1059
    Cell Significance Index: -1.5400
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.1090
    Cell Significance Index: -2.7200
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1148
    Cell Significance Index: -3.0700
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.1152
    Cell Significance Index: -2.4100
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: -0.1184
    Cell Significance Index: -2.3300
  • Cell Name: keratocyte (CL0002363)
    Fold Change: -0.1185
    Cell Significance Index: -1.8800
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1212
    Cell Significance Index: -4.2100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1327
    Cell Significance Index: -5.8700
  • Cell Name: leukocyte (CL0000738)
    Fold Change: -0.1372
    Cell Significance Index: -2.3300
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.1388
    Cell Significance Index: -3.9600
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1411
    Cell Significance Index: -3.7100
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1463
    Cell Significance Index: -4.3100
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.1514
    Cell Significance Index: -3.2700
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: -0.1515
    Cell Significance Index: -1.9600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.1524
    Cell Significance Index: -4.3900
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.1528
    Cell Significance Index: -4.0800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1553
    Cell Significance Index: -5.8800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.1632
    Cell Significance Index: -5.7400
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1640
    Cell Significance Index: -3.4800
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: -0.1648
    Cell Significance Index: -2.4100
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.1699
    Cell Significance Index: -3.4100
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.1725
    Cell Significance Index: -3.4100
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.1776
    Cell Significance Index: -3.0700
  • Cell Name: T cell (CL0000084)
    Fold Change: -0.1829
    Cell Significance Index: -2.1600
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.1904
    Cell Significance Index: -4.1700
  • Cell Name: B cell (CL0000236)
    Fold Change: -0.1972
    Cell Significance Index: -2.3300
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.2055
    Cell Significance Index: -3.4400
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.2055
    Cell Significance Index: -5.8900
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: -0.2075
    Cell Significance Index: -3.3600
  • Cell Name: monocyte (CL0000576)
    Fold Change: -0.2094
    Cell Significance Index: -2.4100
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.2106
    Cell Significance Index: -3.4700
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.2126
    Cell Significance Index: -3.5800
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.2143
    Cell Significance Index: -3.9600
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.2248
    Cell Significance Index: -7.1100
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: -0.2275
    Cell Significance Index: -5.8000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.2336
    Cell Significance Index: -5.8400
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: -0.2381
    Cell Significance Index: -2.9500
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: -0.2414
    Cell Significance Index: -3.3900
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.2443
    Cell Significance Index: -5.9600

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** PHOX2A is a member of the paired-like homeobox (PHX) gene family, which is characterized by the presence of a paired-like homeodomain. This domain is responsible for DNA binding and transcriptional regulation. PHOX2A is highly conserved across species, suggesting its essential role in neuronal development and function. **Pathways and Functions:** PHOX2A is involved in several key pathways, including: 1. **Dopaminergic Neuron Differentiation**: PHOX2A regulates the expression of genes involved in dopaminergic neuron development, including dopamine transporter and tyrosine hydroxylase. 2. **Noradrenergic Neuron Differentiation**: PHOX2A is also involved in regulating noradrenergic neuron development, including the expression of noradrenaline transporter and tyrosine hydroxylase. 3. **Sympathetic Nervous System Development**: PHOX2A plays a crucial role in the development of the sympathetic nervous system, including the formation of the locus ceruleus and midbrain. 4. **Chromatin and DNA Binding**: PHOX2A binds to specific DNA sequences and regulates chromatin structure, facilitating transcriptional activation of target genes. 5. **Transcriptional Regulation**: PHOX2A acts as a transcriptional activator, regulating the expression of genes involved in neuronal development, differentiation, and function. **Clinical Significance:** Dysregulation of PHOX2A has been implicated in various neurological disorders, including: 1. **Congenital Insomnia**: Mutations in PHOX2A have been associated with congenital insomnia, a condition characterized by excessive sleepiness and lethargy. 2. **Autonomic Dysfunction**: PHOX2A mutations have also been linked to autonomic dysfunction, including abnormalities in blood pressure regulation and heart rate. 3. **Neurodegenerative Diseases**: PHOX2A has been implicated in neurodegenerative diseases, such as Parkinson's disease and Alzheimer's disease, where it may play a role in regulating neuronal survival and differentiation. In summary, PHOX2A is a critical transcription factor involved in neuronal development, differentiation, and function. Its dysregulation has been implicated in various neurological disorders, highlighting the importance of this gene in maintaining normal neural function and development.

Genular Protein ID: 669139078

Symbol: PHX2A_HUMAN

Name: Paired mesoderm homeobox protein 2A

UniProtKB Accession Codes:

O14813 A8K3N0 Q8IVZ2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 6 Ensembl 1 ExpressionAtlas 1 GO 18 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 8661014

Title: Mapping of the ARIX homeodomain gene to mouse chromosome 7 and human chromosome 11q13.

PubMed ID: 8661014

DOI: 10.1006/geno.1996.0230

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 11600883

Title: Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2.

PubMed ID: 11600883

DOI: 10.1038/ng744

PubMed ID: 14566559

Title: Molecular analysis of congenital central hypoventilation syndrome.

PubMed ID: 14566559

DOI: 10.1007/s00439-003-1036-z

Sequence Information:

  • Length: 284
  • Mass: 29653
  • Checksum: F123D5695FB45A99
  • Sequence:
    • MDYSYLNSYD SCVAAMEASA YGDFGACSQP GGFQYSPLRP AFPAAGPPCP ALGSSNCALG 
ALRDHQPAPY SAVPYKFFPE PSGLHEKRKQ RRIRTTFTSA QLKELERVFA ETHYPDIYTR 
EELALKIDLT EARVQVWFQN RRAKFRKQER AASAKGAAGA AGAKKGEARC SSEDDDSKES 
TCSPTPDSTA SLPPPPAPGL ASPRLSPSPL PVALGSGPGP GPGPQPLKGA LWAGVAGGGG 
GGPGAGAAEL LKAWQPAESG PGPFSGVLSS FHRKPGPALK TNLF

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.