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
Associated with diseases Central hypoventilation syndrome, congenital, with or without Hirschsprung disease (Haddad syndrome), Neuroblastoma with Hirschsprung disease
Citation reference(s) -
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 0
Unique public DNA variants reported 0
Individuals with public variants 0
Hidden variants 0
Date created May 03, 2013

Links to other resources
HGNC 9143
Entrez Gene 8929
PubMed articles PHOX2B
OMIM - Gene 603851
OMIM - Diseases Central hypoventilation syndrome, congenital, with or without Hirschsprung disease (Haddad syndrome)
Neuroblastoma with Hirschsprung disease


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00016114 4 paired-like homeobox 2b NM_003924.3 NP_003915.2 0