Free for academic non-profit institutions. Other users need a Commercial license

CYP11B1 Gene(Protein Coding)

Cytochrome P450 Family 11 Subfamily B Member 1

GCID:
GC08M142872
GIFtS:
52
Genes Participants
UDN Logo

Aliases for CYP11B1 Gene

Aliases for CYP11B1 Gene

  • Cytochrome P450 Family 11 Subfamily B Member 1 2 3 5
  • Cytochrome P450, Subfamily XIB (Steroid 11-Beta-Hydroxylase), Polypeptide 1 2 3
  • Cytochrome P450, Family 11, Subfamily B, Polypeptide 1 2 3
  • Steroid 11-Beta-Monooxygenase 2 3
  • Steroid 11-Beta-Hydroxylase 3 4
  • Cytochrome P-450c11 3 4
  • Cytochrome P450C11 3 4
  • CYPXIB1 3 4
  • Cytochrome P450 11B1, Mitochondrial 3
  • Cytochrome P450 XIB1 3
  • EC 1.14.15.4 4
  • P450C11 3
  • CYP11B 3
  • S11BH 4
  • CPN1 3
  • FHI 3

External Ids for CYP11B1 Gene

Previous HGNC Symbols for CYP11B1 Gene

  • CYP11B

Previous GeneCards Identifiers for CYP11B1 Gene

  • GC08M142258
  • GC08M144187
  • GC08M143758
  • GC08M144016
  • GC08M143950
  • GC08M139206

Summaries for CYP11B1 Gene

Entrez Gene Summary for CYP11B1 Gene

  • This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for CYP11B1 Gene

CYP11B1 (Cytochrome P450 Family 11 Subfamily B Member 1) is a Protein Coding gene. Diseases associated with CYP11B1 include Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency and Hyperaldosteronism, Familial, Type I. Among its related pathways are Cytochrome P450 - arranged by substrate type and Metabolism. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is CYP11B2.

UniProtKB/Swiss-Prot for CYP11B1 Gene

  • Has steroid 11-beta-hydroxylase activity. In addition to this activity, the 18 or 19-hydroxylation of steroids and the aromatization of androstendione to estrone have also been ascribed to cytochrome P450 XIB.

Tocris Summary for CYP11B1 Gene

  • Hydroxylases are enzymes that catalyze the addition of hydroxyl groups to substrates during oxidation reactions. This diverse group of enzymes includes tryptophan hydroxylase (E.C. 1.14.16.4), steroid 11-beta hydroxylase (E.C. 1.14.15.4), and LTB4 omega-hydroxylase (E.C. 1.14.13.30).

Gene Wiki entry for CYP11B1 Gene

Additional gene information for CYP11B1 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYP11B1 Gene

Genomics for CYP11B1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for CYP11B1 Gene

Promoters and enhancers for CYP11B1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH08J142879 Promoter 0.6 EPDnew 650.7 0.0 0 0.1 ATF2 CYP11B1 GC08M142868 GML
GH08J142910 Enhancer 0.5 dbSUPER 0.3 -31.5 -31518 1.1 SIN3A EHMT2 REST ELF1 GML LYNX1 LY6E-DT CYP11B2 CYP11B1
GH08J142912 Enhancer 0.4 dbSUPER 0.3 -33.2 -33242 1.2 PKNOX1 PBX2 LYNX1 LY6E-DT C8orf31 CYP11B2 CYP11B1 GML
GH08J142913 Enhancer 0.4 dbSUPER 0.3 -35.1 -35101 2.4 MAX MNT LYNX1 LY6E-DT GML CYP11B2 CYP11B1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CYP11B1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CYP11B1 gene promoter:
  • HEN1
  • YY1
  • Lmo2
  • Bach1
  • GCNF-2
  • GCNF-1
  • GCNF
  • NF-1
  • NF-1/L
  • Ik-1

Genomic Locations for CYP11B1 Gene

Genomic Locations for CYP11B1 Gene
chr8:142,872,354-142,879,846
(GRCh38/hg38)
Size:
7,493 bases
Orientation:
Minus strand
chr8:143,953,772-143,961,262
(GRCh37/hg19)
Size:
7,491 bases
Orientation:
Minus strand

Genomic View for CYP11B1 Gene

Genes around CYP11B1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYP11B1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYP11B1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CYP11B1 Gene

Proteins for CYP11B1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for CYP11B1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P15538-C11B1_HUMAN
    Recommended name:
    Cytochrome P450 11B1, mitochondrial
    Protein Accession:
    P15538
    Secondary Accessions:
    • Q14095
    • Q4VAQ8
    • Q4VAQ9
    • Q9UML2

    Protein attributes for CYP11B1 Gene

    Size:
    503 amino acids
    Molecular mass:
    57573 Da
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CYP11B1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CYP11B1 Gene

Protein Expression for CYP11B1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CYP11B1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYP11B1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CYP11B1 Gene

Domains & Families for CYP11B1 Gene

Gene Families for CYP11B1 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Predicted intracellular proteins

Protein Domains for CYP11B1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CYP11B1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P15538

UniProtKB/Swiss-Prot:

C11B1_HUMAN :
  • Belongs to the cytochrome P450 family.
Family:
  • Belongs to the cytochrome P450 family.
genes like me logo Genes that share domains with CYP11B1: view

Function for CYP11B1 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for CYP11B1 Gene

UniProtKB/Swiss-Prot Function:
Has steroid 11-beta-hydroxylase activity. In addition to this activity, the 18 or 19-hydroxylation of steroids and the aromatization of androstendione to estrone have also been ascribed to cytochrome P450 XIB.
UniProtKB/Swiss-Prot CatalyticActivity:
A steroid + 2 reduced adrenodoxin + O(2) + 2 H(+) = an 11-beta-hydroxysteroid + 2 oxidized adrenodoxin + H(2)O.
GENATLAS Biochemistry:
cytochrome p450,subfamily XIB,polypeptide 1,steroid 11 beta-hydroxylase,mitochondrial,involved in glucocorticoid biosynthesis,stimulated by corticotropin,expressed in zona fasciculata of the adrenal cortex

Enzyme Numbers (IUBMB) for CYP11B1 Gene

Gene Ontology (GO) - Molecular Function for CYP11B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004507 steroid 11-beta-monooxygenase activity TAS --
GO:0005506 iron ion binding IEA --
GO:0016491 oxidoreductase activity IEA --
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA --
GO:0016709 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen IBA --
genes like me logo Genes that share ontologies with CYP11B1: view
genes like me logo Genes that share phenotypes with CYP11B1: view

Human Phenotype Ontology for CYP11B1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CYP11B1 Gene

MGI Knock Outs for CYP11B1:

Animal Model Products

Clone Products

No data available for Phenotypes From GWAS Catalog , miRNA , Transcription Factor Targets and HOMER Transcription for CYP11B1 Gene

Localization for CYP11B1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYP11B1 Gene

Mitochondrion membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CYP11B1 gene
Compartment Confidence
mitochondrion 5
peroxisome 2
cytosol 2
nucleus 1

Gene Ontology (GO) - Cellular Components for CYP11B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 2256920
GO:0005743 mitochondrial inner membrane TAS,IC 15026188
GO:0016020 membrane IEA --
GO:0031966 mitochondrial membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IBA --
genes like me logo Genes that share ontologies with CYP11B1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CYP11B1 Gene

Pathways & Interactions for CYP11B1 Gene

genes like me logo Genes that share pathways with CYP11B1: view

Gene Ontology (GO) - Biological Process for CYP11B1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006694 steroid biosynthetic process IEA --
GO:0006700 C21-steroid hormone biosynthetic process IDA 2256920
GO:0006704 glucocorticoid biosynthetic process TAS --
GO:0006955 immune response TAS 12452430
genes like me logo Genes that share ontologies with CYP11B1: view

No data available for SIGNOR curated interactions for CYP11B1 Gene

Drugs & Compounds for CYP11B1 Gene

Products:

  1. Drug

(42) Drugs for CYP11B1 Gene - From: DrugBank, DGIdb, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Metyrapone Approved, Investigational Pharma inhibitor, Target, Enzyme 11-beta hydroxylase inhibitor 13
Mitotane Approved Pharma binder, Target, inducer 12
Ketoconazole Approved, Investigational Pharma Pore Blocker, Enzyme, inhibitor Inhibitor of cyclosporine oxidase and testosterone 6 beta-hydroxylase, Cytochrome P450c17 inhibitor 179
Spironolactone Approved Pharma Antagonist, Enzyme, inhibitor, inducer Mineralocorticoid receptor antagonist 244
Cimetidine Approved, Investigational Pharma Inhibition, Inhibitor, Enzyme, inhibitor H2 receptor antagonist 81

(23) Additional Compounds for CYP11B1 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
17-Hydroxyprogesterone
  • 17-Hydroxypregn-4-en-3,20-dione
  • 17alpha-Hydroxy-4-pregnene-3,20-dione
  • 17alpha-Hydroxy-progesterone
  • delta(4)-Pregnene-17alpha-ol-3,20-dione
  • Hidroxiprogesterona
 68-96-2
18-Hydroxycorticosterone
  • 11b,18,21-Trihydroxy-pregn-4-ene-3,20-dione
  • 18 Hydrocorticosterone
  • 18 Hydroxycorticosterone
  • 18-Hydrocorticosterone
  • Hydroxycorticosterone, 18
 561-65-9
11b,17a,21-Trihydroxypreg-nenolone
  • 11beta,17alpha,21-Trihydroxypreg-nenolone
  • 11beta,17alpha,21-Trihydroxypregnenolone
11b-Hydroxyandrost-4-ene-3,17-dione
  • 11beta-Hydroxy-4-androstene-3,17-dione
  • 4-Androsten-11beta-ol-3,17-dione
  • Androst-4-ene-3,17-dione-11beta-ol
  • 11b-Hydroxy-4-androstene-3,17-dione
  • 11β-hydroxy-4-androstene-3,17-dione
 382-44-5
11b-Hydroxyprogesterone
  • (11beta)-11-Hydroxypregn-4-ene-3,20-dione
  • 11-beta-Hydroxypregn-4-ene-3,20-dione
  • 11-beta-Hydroxyprogesterone
  • 11beta-Hydroxypregn-4-ene-3,20-dione
  • 11beta-Hydroxyprogesterone
 600-57-7

(4) Tocris Compounds for CYP11B1 Gene

Compound Action Cas Number
17-ODYA LTB omega-hydroxylase inhibitor 34450-18-5
DMOG Prolyl hydroxylase inhibitor 89464-63-1
Metyrapone 11-beta hydroxylase inhibitor 54-36-4
p-Chlorophenylalanine Tryptophan hydroxylase inhibitor 7424-00-2
genes like me logo Genes that share compounds with CYP11B1: view

Transcripts for CYP11B1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CYP11B1 Gene

(2) REFSEQ mRNAs :
(7) Additional mRNA sequences :
(89) Selected AceView cDNA sequences:
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CYP11B1 Gene

Cytochrome P450, family 11, subfamily B, polypeptide 1:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CYP11B1 Gene

No ASD Table

Relevant External Links for CYP11B1 Gene

GeneLoc Exon Structure for
CYP11B1
ECgene alternative splicing isoforms for
CYP11B1

Expression for CYP11B1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CYP11B1 Gene

mRNA expression in normal human tissues for CYP11B1 Gene
mRNA expression by GTEx for CYP11B1 GenemRNA expression by BioGPS for CYP11B1 Gene

mRNA differential expression in normal tissues according to GTEx for CYP11B1 Gene

This gene is overexpressed in Adrenal Gland (x52.7).

Protein differential expression in normal tissues from HIPED for CYP11B1 Gene

This gene is overexpressed in Adrenal (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CYP11B1 Gene



Protein tissue co-expression partners for CYP11B1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CYP11B1 Gene:

CYP11B1

SOURCE GeneReport for Unigene cluster for CYP11B1 Gene:

Hs.184927

Evidence on tissue expression from TISSUES for CYP11B1 Gene

  • Blood(4.4)
  • Adrenal gland(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CYP11B1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • ear
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • heart
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • adrenal gland
  • kidney
  • pancreas
Pelvis:
  • pelvis
  • penis
  • prostate
  • testicle
  • ureter
  • urethra
  • urinary bladder
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with CYP11B1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for CYP11B1 Gene

Orthologs for CYP11B1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CYP11B1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia LOC464437 33
  • 98.34 (n)
CYP11B1 34
  • 90 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Cyp11b2 33
  • 75.2 (n)
mouse
(Mus musculus)
 Mammalia Cyp11b2 16 34 33
  • 74.87 (n)
Cyp11b1 34
  • 64 (a)
 ManyToMany
cow
(Bos Taurus)
 Mammalia -- 34
  • 72 (a)
 ManyToMany
-- 34
  • 69 (a)
 ManyToMany
dog
(Canis familiaris)
 Mammalia -- 34
  • 72 (a)
 OneToMany
oppossum
(Monodelphis domestica)
 Mammalia -- 34
  • 52 (a)
 OneToMany
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 34
  • 48 (a)
 OneToMany
lizard
(Anolis carolinensis)
 Reptilia -- 34
  • 50 (a)
 OneToMany
tropical clawed frog
(Silurana tropicalis)
 Amphibia LOC101731070 33
  • 57.52 (n)
zebrafish
(Danio rerio)
 Actinopterygii cyp11c1 34 33
  • 55.27 (n)
 OneToMany
fruit fly
(Drosophila melanogaster)
 Insecta dib 34
  • 24 (a)
 ManyToMany
Cyp12c1 34 35
  • 23 (a)
 ManyToMany
Cyp12a4 34
  • 22 (a)
 ManyToMany
Cyp12e1 34
  • 21 (a)
 ManyToMany
Cyp12b2 34
  • 21 (a)
 ManyToMany
shd 34
  • 21 (a)
 ManyToMany
Cyp12d1-d 34
  • 20 (a)
 ManyToMany
Cyp12a5 34
  • 20 (a)
 ManyToMany
Cyp12d1-p 34
  • 20 (a)
 ManyToMany
Cyp49a1 34
  • 19 (a)
 ManyToMany
Cyp301a1 34
  • 18 (a)
 ManyToMany
worm
(Caenorhabditis elegans)
 Secernentea ccp-44 35
  • 26 (a)
cyp-44A1 34
  • 24 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 20 (a)
 OneToMany
Species where no ortholog for CYP11B1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CYP11B1 Gene

ENSEMBL:
Gene Tree for CYP11B1 (if available)
TreeFam:
Gene Tree for CYP11B1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CYP11B1: view image

Paralogs for CYP11B1 Gene

Paralogs for CYP11B1 Gene

(7) SIMAP similar genes for CYP11B1 Gene using alignment to 9 proteins:

  • C11B1_HUMAN
  • A9UF29_HUMAN
  • D2KC07_HUMAN
  • H0YBR4_HUMAN
  • Q4VAR0_HUMAN
  • Q8TE38_HUMAN
  • Q8TE39_HUMAN
  • Q8TE40_HUMAN
  • Q8TE41_HUMAN

Pseudogenes.org Pseudogenes for CYP11B1 Gene

genes like me logo Genes that share paralogs with CYP11B1: view

Variants for CYP11B1 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for CYP11B1 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs104894061 pathogenic, Deficiency of steroid 11-beta-monooxygenase, Adrenal hyperplasia 4 (AH4) [MIM:202010] 142,876,242(-) G/A/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs104894062 pathogenic, Deficiency of steroid 11-beta-monooxygenase, Adrenal hyperplasia 4 (AH4) [MIM:202010] 142,875,712(-) C/G/T coding_sequence_variant, missense_variant
rs104894066 pathogenic, Deficiency of steroid 11-beta-monooxygenase 142,879,080(-) C/T coding_sequence_variant, genic_upstream_transcript_variant, stop_gained
rs104894067 pathogenic, Deficiency of steroid 11-beta-monooxygenase, Adrenal hyperplasia 4 (AH4) [MIM:202010] 142,877,221(-) T/C/G coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, upstream_transcript_variant
rs104894068 pathogenic, Deficiency of steroid 11-beta-monooxygenase, Adrenal hyperplasia 4 (AH4) [MIM:202010] 142,875,877(-) G/A coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for CYP11B1 Gene

Variant ID Type Subtype PubMed ID
esv2661137 CNV deletion 23128226
esv2673440 CNV deletion 23128226
esv2737938 CNV deletion 23290073
esv3544372 CNV deletion 23714750
esv991235 CNV deletion 20482838
nsv436586 CNV deletion 17901297
nsv470246 CNV loss 18288195
nsv482123 CNV gain 20164927
nsv520940 CNV gain 19592680

Variation tolerance for CYP11B1 Gene

Residual Variation Intolerance Score: 47.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.97; 59.92% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CYP11B1 Gene

Human Gene Mutation Database (HGMD)
CYP11B1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CYP11B1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYP11B1 Gene

Disorders for CYP11B1 Gene

MalaCards: The human disease database

(20) MalaCards diseases for CYP11B1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

C11B1_HUMAN
  • Adrenal hyperplasia 4 (AH4) [MIM:202010]: A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: salt wasting (SW, the most severe type), simple virilizing (SV, less severely affected patients), with normal aldosterone biosynthesis, non-classic form or late-onset (NC or LOAH) and cryptic (asymptomatic). {ECO:0000269 PubMed:16046588, ECO:0000269 PubMed:20089618, ECO:0000269 PubMed:2022736, ECO:0000269 PubMed:20331679, ECO:0000269 PubMed:20947076, ECO:0000269 PubMed:23940125, ECO:0000269 PubMed:24022297, ECO:0000269 PubMed:24536089, ECO:0000269 PubMed:24987415, ECO:0000269 PubMed:26053152, ECO:0000269 PubMed:26476331, ECO:0000269 PubMed:9302260}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Hyperaldosteronism, familial, 1 (HALD1) [MIM:103900]: A disorder characterized by hypertension, variable hyperaldosteronism, and abnormal adrenal steroid production, including 18-oxocortisol and 18-hydroxycortisol. There is significant phenotypic heterogeneity, and some individuals never develop hypertension. Note=The disease is caused by mutations affecting the gene represented in this entry. The molecular defect causing hyperaldosteronism familial 1 is an anti-Lepore-type fusion of the CYP11B1 and CYP11B2 genes. The hybrid gene has the promoting part of CYP11B1, ACTH-sensitive, and the coding part of CYP11B2.

Additional Disease Information for CYP11B1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CYP11B1: view

No data available for Genatlas for CYP11B1 Gene

Publications for CYP11B1 Gene

  1. Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency. (PMID: 20089618) Parajes S … Krone N (The Journal of clinical endocrinology and metabolism 2010) 3 4 22 58
  2. Polymorphisms in CYP11B2 and CYP11B1 genes associated with primary hyperaldosteronism. (PMID: 20339375) Zhang GX … Zhang X (Hypertension research : official journal of the Japanese Society of Hypertension 2010) 3 22 44 58
  3. Effect of variation in CYP11B1 and CYP11B2 on corticosteroid phenotype and hypothalamic-pituitary-adrenal axis activity in hypertensive and normotensive subjects. (PMID: 17980006) Freel EM … Connell JM (Clinical endocrinology 2008) 3 22 44 58
  4. Association between aldosterone production and variation in the 11beta-hydroxylase (CYP11B1) gene. (PMID: 16984984) Imrie H … Connell JM (The Journal of clinical endocrinology and metabolism 2006) 3 22 44 58
  5. Functional effects of genetic variants in the 11beta-hydroxylase (CYP11B1) gene. (PMID: 17121536) Barr M … Davies E (Clinical endocrinology 2006) 3 22 44 58

Products for CYP11B1 Gene

Sources for CYP11B1 Gene

Content
Loading form....