AutismKB 2.0

Annotation Details for CYP11B1


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Basic Information Top
Gene Symbol:CYP11B1 ( CPN1,CYP11B,DKFZp686B05283,FHI,FLJ36771,P450C11 )
Gene Full Name: cytochrome P450, family 11, subfamily B, polypeptide 1
Band: 8q24.3
Quick LinksEntrez ID:1584; OMIM: 610613; Uniprot ID:C11B1_HUMAN; ENSEMBL ID: ENSG00000160882; HGNC ID: 2591
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005739IDA-mitochondrion2256920
GO:0005743IC-mitochondrial inner membrane8506298
GO:0005743TAS-mitochondrial inner membrane15026188
GO ID Evidence Qualifier GO_term References
GO:0004507IDA-steroid 11-beta-monooxygenase activity2256920
GO:0004507IMP-steroid 11-beta-monooxygenase activity2022736
GO:0004507TAS-steroid 11-beta-monooxygenase activity-
GO:0005506IEA-iron ion binding-
GO:0020037IC-heme binding2256920
GO:0047783IBA-corticosterone 18-monooxygenase activity-
GO ID Evidence Qualifier GO_term References
GO:0006700IDA-C21-steroid hormone biosynthetic process2256920
GO:0006704TAS-glucocorticoid biosynthetic process-
GO:0006955TAS-immune response12452430
GO:0008217IMP-regulation of blood pressure2022736
GO:0016125TAS-sterol metabolic process-
GO:0032342IDA-aldosterone biosynthetic process2256920
GO:0032342IMP-aldosterone biosynthetic process19342457
GO:0032870IEP-cellular response to hormone stimulus19342457
GO:0034651IDA-cortisol biosynthetic process8506298
GO:0034651IMP-cortisol biosynthetic process2022736
GO:0035865IEP-cellular response to potassium ion19342457
GO:0042593TAS-glucose homeostasis16114325
GO:0055114IEA-oxidation-reduction process-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:88583
  • Data Attributes: MGI curated and HomoloGene calculated
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Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018