CYP11B1 (cytochrome P450 family 11 subfamily B member 1)

2012-11-01  

Identity

HGNC
LOCATION
8q24.3
LOCUSID
ALIAS
CPN1,CYP11B,FHI,P450C11
FUSION GENES

Other Information

Locus ID:

NCBI: 1584
MIM: 610613
HGNC: 2591
Ensembl: ENSG00000160882

Variants:

dbSNP: 1584
ClinVar: 1584
TCGA: ENSG00000160882
COSMIC: CYP11B1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000160882ENST00000292427P15538
ENSG00000160882ENST00000377675Q4VAR0
ENSG00000160882ENST00000517471P15538
ENSG00000160882ENST00000519285H0YBR4

Expression (GTEx)

0
500
1000
1500
2000
2500
3000
3500
4000
4500
5000

Pathways

PathwaySourceExternal ID
Steroid hormone biosynthesisKEGGko00140
Steroid hormone biosynthesisKEGGhsa00140
Metabolic pathwaysKEGGhsa01100
C21-Steroid hormone biosynthesis, progesterone => corticosterone/aldosteroneKEGGhsa_M00108
C21-Steroid hormone biosynthesis, progesterone => cortisol/cortisoneKEGGhsa_M00109
C21-Steroid hormone biosynthesis, progesterone => corticosterone/aldosteroneKEGGM00108
C21-Steroid hormone biosynthesis, progesterone => cortisol/cortisoneKEGGM00109
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Metabolism of steroid hormonesREACTOMER-HSA-196071
Glucocorticoid biosynthesisREACTOMER-HSA-194002
Biological oxidationsREACTOMER-HSA-211859
Phase 1 - Functionalization of compoundsREACTOMER-HSA-211945
Cytochrome P450 - arranged by substrate typeREACTOMER-HSA-211897
Endogenous sterolsREACTOMER-HSA-211976

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
195982352009Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome.92
195982352009Genes related to sex steroids, neural growth, and social-emotional behavior are associated with autistic traits, empathy, and Asperger syndrome.92
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
186361242008Polymorphisms in the estrogen receptor 1 and vitamin C and matrix metalloproteinase gene families are associated with susceptibility to lymphoma.32
204862822010Genetic variants in the renin-angiotensin-aldosterone system and salt sensitivity of blood pressure.25
119322092002Differential regulation of aldosterone synthase and 11beta-hydroxylase transcription by steroidogenic factor-1.21
194532612009High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.20
189742722009Differential effects of high and low steroidogenic factor-1 expression on CYP11B2 expression and aldosterone production in adrenocortical cells.19
248375482014Adrenal CYP11B1/2 expression in primary aldosteronism: immunohistochemical analysis using novel monoclonal antibodies.19
200896182010Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.18

Citation

Dessen P

CYP11B1 (cytochrome P450 family 11 subfamily B member 1)

Atlas Genet Cytogenet Oncol Haematol. 2012-11-01

Online version: http://atlasgeneticsoncology.org/gene/52986/cyp11b1