The PHOX2A gene homepage

General information
Gene symbol PHOX2A
Gene name paired-like homeobox 2a
Chromosome 11
Chromosomal band q13.4
Imprinted Unknown
Genomic reference NG_008169.1
Transcript reference NM_005169.3
Associated with diseases CFEOM-2
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 25
Unique public DNA variants reported 24
Individuals with public variants 0
Hidden variants 4
Date created May 03, 2013
Date last updated September 15, 2020
Version PHOX2A:200915

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 691
Entrez Gene 401
PubMed articles PHOX2A
OMIM - Gene 602753
OMIM - Diseases CFEOM-2 (fibrosis, extraocular muscles, congenital, type 2)
Orphanet PHOX2A

Active transcripts




NCBI ID     

NCBI Protein ID     

00016113 11 paired-like homeobox 2a NM_005169.3 NP_005160.2 25

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2013-2021. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.