PHOX2A

PHOX2A
Identifiers
Aliases	PHOX2A, ARIX, CFEOM2, FEOM2, NCAM2, PMX2A, paired like homeobox 2a
External IDs	OMIM: 602753; MGI: 106633; HomoloGene: 31296; GeneCards: PHOX2A; OMA:PHOX2A - orthologs
Gene location (Human)
Chr.	Chromosome 11 (human)
End	72,245,664 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	101,471,933 bp
RNA expression pattern
	Top expressed in
	testicle; ; gonad; ; muscle layer of sigmoid colon; ; cecum; ; appendix; ; superior vestibular nucleus; ; gastric mucosa; ; right adrenal gland; ; transverse colon; ; muscle tissue;
	Top expressed in
	superior cervical ganglion; ; external carotid artery; ; enteric nervous system; ; female urethra; ; internal carotid artery; ; adrenal gland; ; epithelium of female urethra; ; parasympathetic nervous system; ; tail of embryo; ; embryo;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	DNA-binding transcription factor activity; DNA binding; sequence-specific DNA binding; RNA polymerase II transcription regulatory region sequence-specific DNA binding; DNA-binding transcription factor activity, RNA polymerase II-specific;
Cellular component	nucleus;
Biological process	somatic motor neuron differentiation; parasympathetic nervous system development; regulation of respiratory gaseous exchange; dopaminergic neuron differentiation; noradrenergic neuron differentiation; locus ceruleus development; trochlear nerve formation; regulation of transcription, DNA-templated; sympathetic nervous system development; oculomotor nerve formation; transcription, DNA-templated; midbrain development; positive regulation of transcription by RNA polymerase II; nervous system development; autonomic nervous system development; enteric nervous system development;
	Sources:Amigo / QuickGO
Orthologs
	401
	11859
	ENSG00000165462
	ENSMUSG00000007946
	O14813
	Q62066
	NM_005169
	NM_008887
	NP_005160
	NP_032913
	Wikidata
View/Edit Human	View/Edit Mouse

Paired mesoderm homeobox protein 2A is a protein that in humans is encoded by the PHOX2A gene.^[5]^[6]^[7]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000165462 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000007946 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Johnson KR, Smith L, Johnson DK, Rhodes J, Rinchik EM, Thayer M, Lewis EJ (Sep 1996). "Mapping of the ARIX homeodomain gene to mouse chromosome 7 and human chromosome 11q13". Genomics. 33 (3): 527–31. doi:10.1006/geno.1996.0230. PMID 8661014.
^ Nakano M, Yamada K, Fain J, Sener EC, Selleck CJ, Awad AH, Zwaan J, Mullaney PB, Bosley TM, Engle EC (Nov 2001). "Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2". Nat. Genet. 29 (3): 315–20. doi:10.1038/ng744. PMID 11600883. S2CID 25403574.
^ "Entrez Gene: PHOX2A paired-like (aristaless) homeobox 2a".

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000165462 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000007946 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid8661014-5] Johnson KR, Smith L, Johnson DK, Rhodes J, Rinchik EM, Thayer M, Lewis EJ (Sep 1996). "Mapping of the ARIX homeodomain gene to mouse chromosome 7 and human chromosome 11q13". Genomics. 33 (3): 527–31. doi:10.1006/geno.1996.0230. PMID 8661014.

[pmid11600883-6] Nakano M, Yamada K, Fain J, Sener EC, Selleck CJ, Awad AH, Zwaan J, Mullaney PB, Bosley TM, Engle EC (Nov 2001). "Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2". Nat. Genet. 29 (3): 315–20. doi:10.1038/ng744. PMID 11600883. S2CID 25403574.

[entrez-7] "Entrez Gene: PHOX2A paired-like (aristaless) homeobox 2a".

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