View PHOX2B gene homepage

General information
Gene symbol PHOX2B
Gene name paired-like homeobox 2b
Chromosome 4
Chromosomal band p13
Imprinted Unknown
Genomic reference NG_008243.1
Transcript reference NM_003924.3
Exon/intron information NM_003924.3
Associated with diseases CCHS, NBLST-2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 62
Unique public DNA variants reported 31
Individuals with public variants 425
Hidden variants 0
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated October 17, 2016
Version PHOX2B:161017

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
Homepage URL
HGNC 9143
Entrez Gene 8929
PubMed articles PHOX2B
OMIM - Gene 603851
OMIM - Diseases CCHS (hypoventilation syndrome, central (CCHS, Haddad syndrome, Ondine-Hirschsprung disease))
NBLST-2 (neuroblastoma, susceptibility to, type 2 (NBLST-2))
GeneCards PHOX2B
GeneTests PHOX2B

Active transcripts




NCBI ID     

NCBI Protein ID     

00016114 4 paired-like homeobox 2b NM_003924.3 NP_003915.2 62

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