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Gene

PHOX2B

paired like homeobox 2B

Summary

Cytogenetic location
4p13
Coordinates
Chromosome 4: 41,744,082–41,748,725 (GRCh38)
Exons
3 exons across 4.6 kb
Protein
314 amino acids
Inheritance
Autosomal dominant
Also known as
NBPhox
Previous symbols
PMX2B
MANE Select transcript
ENST00000226382.4NM_003924.4
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 reports relevant to this gene

  • Congenital Central Hypoventilation Syndrome

    • Autosomal dominant

      Reduced automatic breathing drive, most pronounced during sleep, usually caused by PHOX2B variants and sometimes accompanied by Hirschsprung disease or, with certain variants, a risk of neural crest tumours such as neuroblastoma.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing allows sleep studies with carbon dioxide monitoring, breathing support where needed, extra caution with anaesthesia and sedative medicines, and testing of parents and children.

  • Hirschsprung Disease & Related Enteric Neurocristopathies

    • Haddad syndromeAutosomal dominant

      The co-occurrence of congenital central hypoventilation syndrome and Hirschsprung disease, caused by PHOX2B variants.

      • ClinGen rates the link definitive
      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Knowing the diagnosis prompts lifelong breathing support during sleep and screening for neural crest tumours.

  • Neuroblastoma Predisposition (ALK and PHOX2B)

    • Neuroblastoma susceptibility 2 (PHOX2B)Autosomal dominant

      Germline PHOX2B variants predisposing to neuroblastoma and related neural-crest tumours.

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

      Abdominal ultrasound and urine catecholamine testing in early childhood.

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How PHOX2B is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 4, with a bracket where PHOX2B sits. PHOX2B and 6 genes near it on chromosome 4, from 41,246,404 to 42,246,403.Chromosome 44p13p16.3p16.2p16.1p15.33p15.32p15.31p15.2p15.1p14p13p12p11q11q12q13.1q13.2q13.3q21.1q21.21q21.22q21.23q21.3q22.1q22.2q22.3q23q24q25q26q27q28.1q28.2q28.3q31.1q31.21q31.22q31.23q31.3q32.1q32.2q32.3q33q34.1q34.2q34.3q35.1q35.241.4 Mb41.6 Mb41.8 Mb42 Mb42.2 MbUCHL1: 41,256,413–41,268,567, forward strandUCHL1LIMCH1: 41,359,574–41,700,049, forward strandLIMCH1PHOX2B: 41,744,082–41,748,725, reverse strandPHOX2BTMEM33: 41,934,380–41,960,803, forward strandTMEM33DCAF4L1: 41,981,756–41,986,465, forward strandDCAF4L1SLC30A9: 41,990,492–42,099,369, forward strandSLC30A9BEND4: 42,110,853–42,152,878, reverse strandBEND4Diagram of PHOX2B: 3 exons on the reverse strand of chromosome 4Exon 3: 36 known disease-causing sitesExon 2: 9 known disease-causing sitesExon 1: 9 known disease-causing sitesExon 3: 41,744,082–41,746,322, 2,241 basesExon 2: 41,747,349–41,747,536, 188 basesExon 1: 41,748,370–41,748,725, 356 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 2.8 kb of the gene's 4.6 kb; 945 of those bases code for the protein.

How a genome test reads PHOX2B

57

positions in PHOX2B where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 4.6 kb of PHOX2B, introns included, not only the 2.8 kb of exons.

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.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • 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.). PHOX2B gene: paired like homeobox 2B. Retrieved 16 October 2026, from https://dantelabs.com/genes/phox2b

Vancouver

Dante Labs. PHOX2B gene: paired like homeobox 2B [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/phox2b

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