Overview

Location [1]
4p13
Protein [2]
Paired mesoderm homeobox protein 2B
Synonyms [1]
CCHS, NBPhox, PMX2B, NBLST2

Paired-like homeobox 2b (PHOX2B) is a gene that encodes a protein that functions as a transcription factor involved in the development of norandrenergic neuron populations and determination of neurotransmitter pheynotype. Missense mutations, silent mutations, nonsense mutations, frameshift deletions, and frameshift insertions are observed in cancers such as skin cancer, pleural cancer, and colon cancer.

PHOX2B is altered in 0.93% of all cancers with colon adenocarcinoma, lung adenocarcinoma, cutaneous melanoma, endometrial endometrioid adenocarcinoma, and breast invasive ductal carcinoma having the greatest prevalence of alterations [3].

PHOX2B GENIE Cases - Top Diseases

The most common alterations in PHOX2B are PHOX2B Loss (0.13%), PHOX2B Amplification (0.07%), PHOX2B A256_A260del (0.08%), PHOX2B A254_A260del (0.06%), and PHOX2B T205P (1.00%) [3].

PHOX2B GENIE Cases - Top Alterations

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.