PHOX2A

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PHOX2A
Identifiers
AliasesPHOX2A, ARIX, CFEOM2, FEOM2, NCAM2, PMX2A, paired like homeobox 2a
External IDsOMIM: 602753 MGI: 106633 HomoloGene: 31296 GeneCards: PHOX2A
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_005169

NM_008887

RefSeq (protein)

NP_005160

NP_032913

Location (UCSC)Chr 11: 72.24 – 72.25 MbChr 7: 101.47 – 101.47 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

Function

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).[7]

Interactions

PHOX2A has been shown to interact with HAND2.[8]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000165462 - Ensembl, May 2017
  2. ^ a b c 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.
  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.
  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.
  7. ^ a b "Entrez Gene: PHOX2A paired-like (aristaless) homeobox 2a".
  8. ^ Rychlik JL, Gerbasi V, Lewis EJ (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. 278 (49): 49652–60. doi:10.1074/jbc.M308577200. PMID 14506227.

Further reading

External links

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