The NR0B1 gene homepage

General information
Gene symbol NR0B1
Gene name nuclear receptor subfamily 0, group B, member 1
Chromosome X
Chromosomal band p21.3
Imprinted Unknown
Genomic reference NG_009814.1
Transcript reference NM_000475.4
Exon/intron information NM_000475.4 exon/intron table
Associated with diseases AHC, SRXY2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 186
Unique public DNA variants reported 165
Individuals with public variants 221
Hidden variants 8
Download all this gene's data Download all data
Notes Alias: DAX1
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created March 28, 2006
Date last updated December 25, 2022
Version NR0B1:221225

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000475.4.
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 7960
Entrez Gene 190
PubMed articles NR0B1
OMIM - Gene 300473
OMIM - Diseases AHC (adrenal hypoplasia, congenital (AHC, with hypogonadotropic hypogonadism))
SRXY2 (46,XY sex reversal, type 2 (SRXY-2))
GeneCards NR0B1
GeneTests NR0B1
Orphanet NR0B1

Active transcripts




NCBI ID     

NCBI Protein ID     

00014799 X nuclear receptor subfamily 0, group B, member 1 NM_000475.4 NP_000466.2 186

Copyright & disclaimer
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