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)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: chromaffin cell (CL0000166)
    Fold Change: 2.58
    Marker Score: 3631
  • Cell Name: blood vessel endothelial cell (CL0000071)
    Fold Change: 2.23
    Marker Score: 2248.5
  • Cell Name: conventional dendritic cell (CL0000990)
    Fold Change: 2.2
    Marker Score: 1517
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 2.19
    Marker Score: 2463
  • Cell Name: plasma cell (CL0000786)
    Fold Change: 1.99
    Marker Score: 2227
  • Cell Name: primary sensory neuron (sensu Teleostei) (CL0000531)
    Fold Change: 1.93
    Marker Score: 649
  • Cell Name: inhibitory motor neuron (CL0008015)
    Fold Change: 1.78
    Marker Score: 842
  • Cell Name: motor neuron (CL0000100)
    Fold Change: 1.7
    Marker Score: 1012
  • Cell Name: neural cell (CL0002319)
    Fold Change: 1.39
    Marker Score: 669
  • Cell Name: granulocyte monocyte progenitor cell (CL0000557)
    Fold Change: 1.38
    Marker Score: 875
  • Cell Name: B cell (CL0000236)
    Fold Change: 1.26
    Marker Score: 1198
  • Cell Name: hematopoietic stem cell (CL0000037)
    Fold Change: 1.22
    Marker Score: 640
  • Cell Name: goblet cell (CL0000160)
    Fold Change: 1.16
    Marker Score: 7693
  • Cell Name: megakaryocyte (CL0000556)
    Fold Change: 1.07
    Marker Score: 609
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71826
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48055
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30409
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2413
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.94
    Marker Score: 5350
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.92
    Marker Score: 705
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.92
    Marker Score: 2743
  • Cell Name: kidney proximal convoluted tubule epithelial cell (CL1000838)
    Fold Change: 0.9
    Marker Score: 1869
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5292
  • Cell Name: natural killer cell (CL0000623)
    Fold Change: 0.87
    Marker Score: 1129.5
  • Cell Name: mast cell (CL0000097)
    Fold Change: 0.85
    Marker Score: 494
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.78
    Marker Score: 712
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.78
    Marker Score: 1266
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.77
    Marker Score: 401
  • Cell Name: pericyte (CL0000669)
    Fold Change: 0.75
    Marker Score: 440
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.75
    Marker Score: 1521
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.74
    Marker Score: 1411
  • Cell Name: sympathetic neuron (CL0011103)
    Fold Change: 0.74
    Marker Score: 244
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.71
    Marker Score: 182
  • Cell Name: dendritic cell (CL0000451)
    Fold Change: 0.7
    Marker Score: 480.5
  • Cell Name: kidney distal convoluted tubule epithelial cell (CL1000849)
    Fold Change: 0.68
    Marker Score: 716
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.63
    Marker Score: 503
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.62
    Marker Score: 9737
  • Cell Name: neutrophil (CL0000775)
    Fold Change: 0.61
    Marker Score: 370
  • Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
    Fold Change: 0.57
    Marker Score: 240
  • Cell Name: common myeloid progenitor (CL0000049)
    Fold Change: 0.57
    Marker Score: 152
  • Cell Name: male germ cell (CL0000015)
    Fold Change: 0.54
    Marker Score: 157
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 0.53
    Marker Score: 281
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.53
    Marker Score: 348
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: 0.47
    Marker Score: 282
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.47
    Marker Score: 450
  • Cell Name: myeloid cell (CL0000763)
    Fold Change: 0.41
    Marker Score: 655
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.39
    Marker Score: 124
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.37
    Marker Score: 377
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.37
    Marker Score: 178
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.37
    Marker Score: 643.5
  • Cell Name: secretory cell (CL0000151)
    Fold Change: 0.34
    Marker Score: 622
  • Cell Name: interneuron (CL0000099)
    Fold Change: 0.34
    Marker Score: 154
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.32
    Marker Score: 192
  • Cell Name: renal alpha-intercalated cell (CL0005011)
    Fold Change: 0.31
    Marker Score: 164
  • Cell Name: primordial germ cell (CL0000670)
    Fold Change: 0.3
    Marker Score: 377
  • Cell Name: T cell (CL0000084)
    Fold Change: 0.28
    Marker Score: 482
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.28
    Marker Score: 651
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: 0.28
    Marker Score: 173
  • Cell Name: kidney loop of Henle thick ascending limb epithelial cell (CL1001106)
    Fold Change: 0.24
    Marker Score: 646.5
  • Cell Name: neuroendocrine cell (CL0000165)
    Fold Change: 0.22
    Marker Score: 86
  • Cell Name: renal principal cell (CL0005009)
    Fold Change: 0.22
    Marker Score: 166
  • Cell Name: plasmacytoid dendritic cell (CL0000784)
    Fold Change: 0.21
    Marker Score: 113
  • Cell Name: mononuclear cell (CL0000842)
    Fold Change: 0.21
    Marker Score: 67
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.19
    Marker Score: 49
  • Cell Name: visceromotor neuron (CL0005025)
    Fold Change: 0.18
    Marker Score: 53
  • Cell Name: neuronal receptor cell (CL0000006)
    Fold Change: 0.18
    Marker Score: 78
  • Cell Name: parietal epithelial cell (CL1000452)
    Fold Change: 0.17
    Marker Score: 62.5
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 0.15
    Marker Score: 101
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.15
    Marker Score: 218
  • Cell Name: kidney loop of Henle thin ascending limb epithelial cell (CL1001107)
    Fold Change: 0.14
    Marker Score: 142
  • Cell Name: podocyte (CL0000653)
    Fold Change: 0.14
    Marker Score: 50
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: 0.14
    Marker Score: 479.5
  • Cell Name: erythrocyte (CL0000232)
    Fold Change: 0.13
    Marker Score: 74
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.12
    Marker Score: 4146
  • Cell Name: kidney capillary endothelial cell (CL1000892)
    Fold Change: 0.11
    Marker Score: 35
  • Cell Name: endothelial cell (CL0000115)
    Fold Change: 0.11
    Marker Score: 100
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 0.11
    Marker Score: 113
  • Cell Name: migratory enteric neural crest cell (CL0002607)
    Fold Change: 0.1
    Marker Score: 98
  • Cell Name: epithelial cell (CL0000066)
    Fold Change: 0.09
    Marker Score: 146
  • Cell Name: ciliated epithelial cell (CL0000067)
    Fold Change: 0.09
    Marker Score: 40
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.09
    Marker Score: 22
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 0.09
    Marker Score: 83
  • Cell Name: stromal cell (CL0000499)
    Fold Change: 0.08
    Marker Score: 88
  • Cell Name: endothelial cell of lymphatic vessel (CL0002138)
    Fold Change: 0.07
    Marker Score: 46
  • Cell Name: gut endothelial cell (CL0000131)
    Fold Change: 0.07
    Marker Score: 26
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.07
    Marker Score: 21
  • Cell Name: epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.07
    Marker Score: 32
  • Cell Name: macrophage (CL0000235)
    Fold Change: 0.07
    Marker Score: 78
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.07
    Marker Score: 119
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.07
    Marker Score: 410
  • Cell Name: epithelial cell of thymus (CL0002293)
    Fold Change: 0.07
    Marker Score: 21
  • Cell Name: interstitial cell of Cajal (CL0002088)
    Fold Change: 0.06
    Marker Score: 22
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 0.06
    Marker Score: 20
  • Cell Name: intestinal crypt stem cell of large intestine (CL0009016)
    Fold Change: 0.06
    Marker Score: 18
  • Cell Name: oocyte (CL0000023)
    Fold Change: 0.06
    Marker Score: 14
  • Cell Name: innate lymphoid cell (CL0001065)
    Fold Change: 0.06
    Marker Score: 20
  • Cell Name: kidney connecting tubule epithelial cell (CL1000768)
    Fold Change: 0.05
    Marker Score: 76
  • Cell Name: endothelial cell of artery (CL1000413)
    Fold Change: 0.05
    Marker Score: 22
  • Cell Name: oligodendrocyte precursor cell (CL0002453)
    Fold Change: 0.05
    Marker Score: 65
  • Cell Name: Schwann cell precursor (CL0002375)
    Fold Change: 0.05
    Marker Score: 13

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Other Information

**Key characteristics:** * The PHOX2A gene is located on chromosome 17q21.1. * It is a member of the paired like homeobox 2A (PHOX2A) family of homeobox genes. * The protein encoded by PHOX2A is a transcription factor that is expressed in a variety of cell types. * It is involved in the regulation of a number of cellular processes, including cell differentiation, proliferation, and apoptosis. **Pathways and functions:** * The PHOX2A gene is involved in the development of the midbrain. * It is a key factor in the specification of the midbrain region during neural tube formation. * It is also involved in the development of the sympathetic nervous system and the eye. * The protein encoded by PHOX2A is a key factor in the differentiation of sympathetic and parasympathetic neurons. * It is also involved in the regulation of respiratory gaseous exchange. **Clinical significance:** * Mutations in the PHOX2A gene have been linked to a number of human diseases, including autism, schizophrenia, and developmental disorders. * These mutations can disrupt the normal function of the PHOX2A protein, leading to a variety of developmental problems. * As such, the PHOX2A gene is a promising target for the treatment of human diseases that are caused by mutations in this gene.

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 Genevisible 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 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 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 RefSeq 1 SAM 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. For the full schema, download it here.