The CYP11B2 gene homepage

General information
Gene symbol CYP11B2
Gene name cytochrome P450, family 11, subfamily B, polypeptide 2
Chromosome 8
Chromosomal band q21-q22
Imprinted Unknown
Genomic reference NG_008374.1
Transcript reference NM_000498.3
Exon/intron information NM_000498.3 exon/intron table
Associated with diseases corticosterone methyloxidase type 1 deficiency, Hypoaldosteronism, congenital, due to CMO II deficiency
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 56
Unique public DNA variants reported 45
Individuals with public variants 6
Hidden variants 1
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created May 03, 2013
Date last updated April 19, 2024
Version CYP11B2:240419

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_000498.3.
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 https://www.LOVD.nl/CYP11B2
HGNC 2592
Entrez Gene 1585
PubMed articles CYP11B2
OMIM - Gene 124080
OMIM - Diseases corticosterone methyloxidase type 1 deficiency
Hypoaldosteronism, congenital, due to CMO II deficiency
HGMD CYP11B2
GeneCards CYP11B2
GeneTests CYP11B2
Orphanet CYP11B2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00006039 8 cytochrome P450, family 11, subfamily B, polypeptide 2 NM_000498.3 NP_000489.3 56


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