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Gene

PHOX2A

paired like homeobox 2A

Summary

Cytogenetic location
11q13.4
Coordinates
Chromosome 11: 72,239,077–72,244,176 (GRCh38)
Exons
3 exons across 5.1 kb
Protein
284 amino acids
Also known as
PMX2A, CFEOM2
Previous symbols
ARIX, FEOM2
MANE Select transcript
ENST00000298231.5NM_005169.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Congenital Cranial Dysinnervation Disorders

    • Congenital Fibrosis of the Extraocular Muscles

      A group of conditions, caused by changes in genes such as KIF21A, TUBB3 and PHOX2A, in which eye movements are restricted and the eyelids often droop from birth.

      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      A genetic diagnosis explains the condition, can guide planning for eye-muscle and eyelid surgery and informs recurrence risk.

How PHOX2A is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
Chromosome 11, with a bracket where PHOX2A sits. PHOX2A and 19 genes near it on chromosome 11, from 71,741,627 to 72,741,626.Chromosome 1111q13.4p15.5p15.4p15.3p15.2p15.1p14.3p14.2p14.1p13p12p11.2p11.12p11.11q11q12.1q12.2q12.3q13.1q13.2q13.3q13.4q13.5q14.1q14.2q14.3q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q2571.8 Mb72 Mb72.2 Mb72.4 Mb72.6 MbXNDC1N-ZNF705EP-ALG1L9P: 71,804,997–71,928,656, reverse strandXNDC1N-ZNF705EP-ALG1L9PDEFB108B: 71,833,200–71,837,710, forward strandDEFB108BXNDC1N: 71,865,504–71,928,917, reverse strandXNDC1NDEFB131B: 71,878,453–71,884,561, forward strandDEFB131BRNF121: 71,929,005–71,997,597, forward strandRNF121IL18BP: 71,998,613–72,007,315, forward strandIL18BPNUMA1: 72,002,860–72,080,693, reverse strandLRRC51: 72,080,286–72,096,895, forward strandLRTOMT: 72,080,331–72,110,782, forward strandLRTOMTLAMTOR1: 72,085,520–72,103,393, reverse strandTOMT: 72,103,506–72,111,546, forward strandTOMTANAPC15: 72,106,370–72,113,688, reverse strandANAPC15FOLR3: 72,114,869–72,141,085, forward strandFOLR3FOLR1: 72,189,529–72,199,329, forward strandFOLR1FOLR2: 72,216,601–72,221,957, forward strandFOLR2INPPL1: 72,223,524–72,239,184, forward strandINPPL1PHOX2A: 72,239,077–72,244,176, reverse strandPHOX2ACLPB: 72,285,495–72,434,680, reverse strandCLPBPDE2A: 72,576,141–72,674,591, reverse strandPDE2AARAP1: 72,682,436–72,794,047, reverse strandARAP1Diagram of PHOX2A: 3 exons on the reverse strand of chromosome 11Exon 3: 72,239,077–72,240,198, 1,122 basesExon 2: 72,241,102–72,241,289, 188 basesExon 1: 72,243,788–72,244,176, 389 bases3215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 1.7 kb of the gene's 5.1 kb; 855 of those bases code for the protein.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). PHOX2A gene: paired like homeobox 2A. Retrieved 16 October 2026, from https://dantelabs.com/genes/phox2a

Vancouver

Dante Labs. PHOX2A gene: paired like homeobox 2A [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/phox2a

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