CYP11B1 (cytochrome P450 family 11 subfamily B member 1)

2012-11-01  

Identity

HGNC
CYP11B1
LOCATION
8q24.3
LOCUSID
1584
ALIAS
CPN1,CYP11B,FHI,P450C11
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
374864412024Clinical and molecular characterization of 10 Chinese children with congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.0
382854092024Identification and functional characterization of compound heterozygous CYP11B1 gene mutations.0
388582182024[Analysis of a family with 11β-hydroxylase deficiency due to a mutation in the CYP11B1 gene].0
374864412024Clinical and molecular characterization of 10 Chinese children with congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.0
382854092024Identification and functional characterization of compound heterozygous CYP11B1 gene mutations.0
388582182024[Analysis of a family with 11β-hydroxylase deficiency due to a mutation in the CYP11B1 gene].0
369290502023Molecular analysis of 12 Chinese patients with 11β-hydroxylase deficiency and in vitro functional study of 20 CYP11B1 missense variants.0
369290502023Molecular analysis of 12 Chinese patients with 11β-hydroxylase deficiency and in vitro functional study of 20 CYP11B1 missense variants.0
347433562022Expression of CYP11B1 and CYP11B2 in adrenal adenoma correlates with clinical characteristics of primary aldosteronism.6
348212212022Aldosterone-producing nodules and CYP11B1 signaling correlate in primary aldosteronism.4
350124552022GRAde: a long-read sequencing approach to efficiently identifying the CYP11B1/CYP11B2 chimeric form in patients with glucocorticoid-remediable aldosteronism.0
358319032022Genetic variants in CYP11B1 influence the susceptibility to coronary heart disease.3
347433562022Expression of CYP11B1 and CYP11B2 in adrenal adenoma correlates with clinical characteristics of primary aldosteronism.6
348212212022Aldosterone-producing nodules and CYP11B1 signaling correlate in primary aldosteronism.4
350124552022GRAde: a long-read sequencing approach to efficiently identifying the CYP11B1/CYP11B2 chimeric form in patients with glucocorticoid-remediable aldosteronism.0

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/favicon/js/lib/jquery-3.5.1.min.js