PHOX2A

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Paired-like homeobox 2a
Identifiers
Symbols PHOX2A ; ARIX; CFEOM2; FEOM2; NCAM2; PMX2A
External IDs OMIM602753 MGI106633 HomoloGene31296 GeneCards: PHOX2A Gene
RNA expression pattern
PBB GE PHOX2A 214609 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 401 11859
Ensembl ENSG00000165462 ENSMUSG00000007946
UniProt O14813 Q62066
RefSeq (mRNA) NM_005169 NM_008887
RefSeq (protein) NP_005160 NP_032913
Location (UCSC) Chr 11:
71.95 – 71.96 Mb
Chr 7:
101.82 – 101.82 Mb
PubMed search [1] [2]

Paired mesoderm homeobox protein 2A is a protein that in humans is encoded by the PHOX2A gene.[1][2][3]

The protein encoded by this gene contains a paired-like homeodomain most similar to that of the Drosophila aristaless gene product. This protein is expressed specifically in noradrenergic cell types. It regulates the expression of tyrosine hydroxylase and dopamine beta-hydroxylase, two catecholaminergic biosynthetic enzymes essential for the differentiation and maintenance of noradrenergic phenotype. Mutations in this gene have been associated with autosomal recessive congenital fibrosis of the extraocular muscles (CFEOM2).[3]

Interactions[edit]

PHOX2A has been shown to interact with HAND2.[4]

References[edit]

  1. ^ 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. 
  2. ^ 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. 
  3. ^ a b "Entrez Gene: PHOX2A paired-like (aristaless) homeobox 2a". 
  4. ^ Rychlik, Jennifer L; Gerbasi Vincent; Lewis Elaine J (Dec 2003). "The interaction between dHAND and Arix at the dopamine beta-hydroxylase promoter region is independent of direct dHAND binding to DNA". J. Biol. Chem. (United States) 278 (49): 49652–60. doi:10.1074/jbc.M308577200. ISSN 0021-9258. PMID 14506227. 

Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.