Details for: CYP21A2

Gene ID: 1589

Symbol: CYP21A2

Ensembl ID: ENSG00000231852

Description: cytochrome P450 family 21 subfamily A member 2

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 2.8175
    Cell Significance Index: -2.6900
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: 1.3211
    Cell Significance Index: 32.0000
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.4306
    Cell Significance Index: 6.3600
  • Cell Name: helper T cell (CL0000912)
    Fold Change: 0.2062
    Cell Significance Index: 2.9300
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.0701
    Cell Significance Index: 1.1800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0303
    Cell Significance Index: 1.9100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0300
    Cell Significance Index: 5.9600
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.0287
    Cell Significance Index: 0.4600
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.0276
    Cell Significance Index: 2.8200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0255
    Cell Significance Index: 3.7100
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0223
    Cell Significance Index: 1.1600
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 0.0095
    Cell Significance Index: 0.1500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0068
    Cell Significance Index: 4.3000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0011
    Cell Significance Index: 2.0800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0011
    Cell Significance Index: 0.1300
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.0006
    Cell Significance Index: -0.0100
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0013
    Cell Significance Index: -0.4600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0032
    Cell Significance Index: -0.6400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0033
    Cell Significance Index: -6.1000
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.0034
    Cell Significance Index: -0.1000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0037
    Cell Significance Index: -0.4700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0045
    Cell Significance Index: -3.4200
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0048
    Cell Significance Index: -7.3900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0054
    Cell Significance Index: -0.2500
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0056
    Cell Significance Index: -3.0600
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0061
    Cell Significance Index: -2.7700
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0067
    Cell Significance Index: -9.1200
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.0099
    Cell Significance Index: -0.2700
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0106
    Cell Significance Index: -7.8300
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0123
    Cell Significance Index: -0.6200
  • Cell Name: primitive red blood cell (CL0002355)
    Fold Change: -0.0124
    Cell Significance Index: -0.1400
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0129
    Cell Significance Index: -2.3200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0130
    Cell Significance Index: -3.7300
  • Cell Name: retinal blood vessel endothelial cell (CL0002585)
    Fold Change: -0.0132
    Cell Significance Index: -0.1700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0134
    Cell Significance Index: -0.3400
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0143
    Cell Significance Index: -8.0500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0165
    Cell Significance Index: -2.2600
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0178
    Cell Significance Index: -0.7300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0198
    Cell Significance Index: -2.4400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0226
    Cell Significance Index: -2.9200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0256
    Cell Significance Index: -1.9100
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0291
    Cell Significance Index: -4.9700
  • Cell Name: L5/6 near-projecting glutamatergic neuron (CL4030067)
    Fold Change: -0.0320
    Cell Significance Index: -0.1700
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -0.0321
    Cell Significance Index: -0.2700
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0325
    Cell Significance Index: -0.6800
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.0340
    Cell Significance Index: -0.3900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0353
    Cell Significance Index: -3.6800
  • Cell Name: L4 intratelencephalic projecting glutamatergic neuron (CL4030063)
    Fold Change: -0.0365
    Cell Significance Index: -0.4000
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.0377
    Cell Significance Index: -0.6500
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.0390
    Cell Significance Index: -0.2600
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: -0.0393
    Cell Significance Index: -0.5300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0447
    Cell Significance Index: -5.1200
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0486
    Cell Significance Index: -3.7300
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0491
    Cell Significance Index: -2.5600
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0501
    Cell Significance Index: -3.2300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0518
    Cell Significance Index: -2.4400
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0597
    Cell Significance Index: -2.0900
  • Cell Name: retinal astrocyte (CL4033015)
    Fold Change: -0.0608
    Cell Significance Index: -0.6000
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.0614
    Cell Significance Index: -2.0100
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.0620
    Cell Significance Index: -1.2100
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0623
    Cell Significance Index: -1.9900
  • Cell Name: pulmonary capillary endothelial cell (CL4028001)
    Fold Change: -0.0628
    Cell Significance Index: -0.8600
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: -0.0635
    Cell Significance Index: -0.6400
  • Cell Name: interstitial cell of Cajal (CL0002088)
    Fold Change: -0.0638
    Cell Significance Index: -0.6000
  • Cell Name: differentiation-committed oligodendrocyte precursor (CL4023059)
    Fold Change: -0.0641
    Cell Significance Index: -0.7600
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.0653
    Cell Significance Index: -0.7100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0675
    Cell Significance Index: -3.0600
  • Cell Name: natural T-regulatory cell (CL0000903)
    Fold Change: -0.0684
    Cell Significance Index: -0.6700
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.0686
    Cell Significance Index: -1.7100
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: -0.0688
    Cell Significance Index: -0.7600
  • Cell Name: collagen secreting cell (CL0000667)
    Fold Change: -0.0701
    Cell Significance Index: -0.3900
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0713
    Cell Significance Index: -4.0000
  • Cell Name: P/D1 enteroendocrine cell (CL0002268)
    Fold Change: -0.0733
    Cell Significance Index: -0.8200
  • Cell Name: glandular cell of esophagus (CL0002657)
    Fold Change: -0.0747
    Cell Significance Index: -0.8000
  • Cell Name: CD8-positive, alpha-beta thymocyte (CL0000811)
    Fold Change: -0.0762
    Cell Significance Index: -0.7100
  • Cell Name: osteoblast (CL0000062)
    Fold Change: -0.0763
    Cell Significance Index: -0.7400
  • Cell Name: decidual natural killer cell, human (CL0002343)
    Fold Change: -0.0764
    Cell Significance Index: -0.7900
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0785
    Cell Significance Index: -4.1200
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -0.0786
    Cell Significance Index: -1.6000
  • Cell Name: pancreatic epsilon cell (CL0005019)
    Fold Change: -0.0794
    Cell Significance Index: -0.7400
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.0822
    Cell Significance Index: -2.0500
  • Cell Name: prostate gland microvascular endothelial cell (CL2000059)
    Fold Change: -0.0835
    Cell Significance Index: -0.6000
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: -0.0841
    Cell Significance Index: -0.8700
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0859
    Cell Significance Index: -2.2600
  • Cell Name: M cell of gut (CL0000682)
    Fold Change: -0.0864
    Cell Significance Index: -0.7200
  • Cell Name: hepatocyte (CL0000182)
    Fold Change: -0.0908
    Cell Significance Index: -1.2600
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -0.0914
    Cell Significance Index: -1.5800
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: -0.0917
    Cell Significance Index: -0.8800
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.0923
    Cell Significance Index: -2.0000
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.0931
    Cell Significance Index: -2.6700
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.0941
    Cell Significance Index: -2.3500
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.0947
    Cell Significance Index: -2.0100
  • Cell Name: luminal epithelial cell of mammary gland (CL0002326)
    Fold Change: -0.0963
    Cell Significance Index: -1.2400
  • Cell Name: muscle fibroblast (CL1001609)
    Fold Change: -0.0979
    Cell Significance Index: -0.6000
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.0990
    Cell Significance Index: -4.3800
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.1008
    Cell Significance Index: -2.9700
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.1029
    Cell Significance Index: -1.7300
  • Cell Name: epithelial cell of urethra (CL1000296)
    Fold Change: -0.1034
    Cell Significance Index: -0.6400
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: -0.1037
    Cell Significance Index: -1.2000
  • Cell Name: epithelial cell of proximal tubule (CL0002306)
    Fold Change: -0.1047
    Cell Significance Index: -0.8000

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** 1. **Substrate specificity**: CYP21A2 exhibits high affinity for 17-hydroxyprogesterone and 11-deoxycortisol, converting them to more potent glucocorticoids and mineralocorticoids. 2. **Regulation**: The enzyme is tightly regulated by the cytosolic steroid hormone receptors, which modulate its expression and activity in response to changing steroid hormone levels. 3. **Expression**: CYP21A2 is primarily expressed in the adrenal cortex, where it plays a crucial role in the biosynthesis of steroid hormones. **Pathways and Functions:** 1. **Glucocorticoid biosynthesis**: CYP21A2 is essential for the conversion of 17-hydroxyprogesterone to 11-deoxycortisol, which is then converted to cortisol by the enzyme 11β-hydroxylase. 2. **Mineralocorticoid biosynthesis**: The enzyme is also involved in the conversion of 11-deoxycortisol to aldosterone, a critical mineralocorticoid hormone regulating sodium and potassium balance. 3. **Steroid metabolism**: CYP21A2 participates in the metabolism of various steroid hormones, including androgens, estrogens, and progestogens. **Clinical Significance:** 1. **Congenital Adrenal Hyperplasia (CAH)**: Defects in CYP21A2 are the primary cause of CAH, a group of autosomal recessive disorders characterized by impaired steroid hormone production and excess androgen production. 2. **Hypertension and electrolyte imbalance**: Impaired mineralocorticoid biosynthesis due to CYP21A2 deficiency can lead to hypertension and electrolyte imbalance. 3. **Growth and development**: Defects in CYP21A2 can also impact growth and development, particularly in individuals with CAH. 4. **Treatment**: Replacement therapy with glucocorticoids and mineralocorticoids can help alleviate symptoms and manage CAH. In conclusion, CYP21A2 is a vital enzyme in the biosynthesis of steroid hormones, and its dysregulation can have significant clinical implications. Further research is essential to unravel the complexities of CYP21A2 and develop novel therapeutic strategies for the treatment of CAH and related disorders.

Genular Protein ID: 1957177687

Symbol: CP21A_HUMAN

Name: 21-OHase

UniProtKB Accession Codes:

P08686 A2BHY6 P04033 Q01204 Q08AG8 Q16749 Q16806 Q16874 Q5ST44 Q96NU8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEBI 23 ChEMBL 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 DrugCentral 1 EC 2 EMBL 53 Ensembl 10 EvolutionaryTrace 1 ExpressionAtlas 1 GO 13 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 2 PIR 1 PRINTS 2 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 RNAct 1 Reactome 4 RefSeq 2 Rhea 8 SABIO-RK 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissLipids 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 neXtProt 1

Citations:

PubMed ID: 3486422

Title: Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: a pseudogene and a genuine gene.

PubMed ID: 3486422

DOI: 10.1073/pnas.83.9.2841

PubMed ID: 3487786

Title: Structure of human steroid 21-hydroxylase genes.

PubMed ID: 3487786

DOI: 10.1073/pnas.83.14.5111

PubMed ID: 3038528

Title: Molecular characterization of the HLA-linked steroid 21-hydroxylase B gene from an individual with congenital adrenal hyperplasia.

PubMed ID: 3038528

DOI: 10.1002/j.1460-2075.1987.tb02414.x

PubMed ID: 3267225

Title: Nonsense mutation causing steroid 21-hydroxylase deficiency.

PubMed ID: 3267225

DOI: 10.1172/jci113562

PubMed ID: 1406709

Title: R339H and P453S: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions.

PubMed ID: 1406709

DOI: 10.1210/mend.6.8.1406709

PubMed ID: 19505723

Title: Linkage analysis of the C4A/C4B copy number variation and polymorphisms of the adjacent steroid 21-hydroxylase gene in a healthy population.

PubMed ID: 19505723

DOI: 10.1016/j.molimm.2009.04.033

PubMed ID: 23241443

Title: Intraspecific evolution of human RCCX copy number variation traced by haplotypes of the CYP21A2 gene.

PubMed ID: 23241443

DOI: 10.1093/gbe/evs121

PubMed ID: 24312389

Title: Both positive and negative selection pressures contribute to the polymorphism pattern of the duplicated human CYP21A2 gene.

PubMed ID: 24312389

DOI: 10.1371/journal.pone.0081977

PubMed ID: 28401898

Title: A unique haplotype of RCCX copy number variation: from the clinics of congenital adrenal hyperplasia to evolutionary genetics.

PubMed ID: 28401898

DOI: 10.1038/ejhg.2017.38

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 14656967

Title: Analysis of the gene-dense major histocompatibility complex class III region and its comparison to mouse.

PubMed ID: 14656967

DOI: 10.1101/gr.1736803

PubMed ID: 14574404

Title: The DNA sequence and analysis of human chromosome 6.

PubMed ID: 14574404

DOI: 10.1038/nature02055

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8485582

Title: A de novo pathological point mutation at the 21-hydroxylase locus: implications for gene conversion in the human genome.

PubMed ID: 8485582

DOI: 10.1038/ng0393-260

PubMed ID: 3871526

Title: Mapping of steroid 21-hydroxylase genes adjacent to complement component C4 genes in HLA, the major histocompatibility complex in man.

PubMed ID: 3871526

DOI: 10.1073/pnas.82.2.521

PubMed ID: 3257825

Title: Mutation in the CYP21B gene (Ile-172-->Asn) causes steroid 21-hydroxylase deficiency.

PubMed ID: 3257825

DOI: 10.1073/pnas.85.5.1600

PubMed ID: 3497399

Title: P450XXI (steroid 21-hydroxylase) gene deletions are not found in family studies of congenital adrenal hyperplasia.

PubMed ID: 3497399

DOI: 10.1073/pnas.84.16.5858

PubMed ID: 10602386

Title: Restoration of adrenal steroidogenesis by adenovirus-mediated transfer of human cytochromeP450 21-hydroxylase into the adrenal gland of21-hydroxylase-deficient mice.

PubMed ID: 10602386

DOI: 10.1038/sj.gt.3301018

PubMed ID: 25855791

Title: Human Cytochrome P450 21A2, the major steroid 21-hydroxylase: structure of the enzyme-progesterone substrate complex and rate-limiting c-h bond cleavage.

PubMed ID: 25855791

DOI: 10.1074/jbc.m115.646307

PubMed ID: 1864962

Title: Mutations of P450c21 (steroid 21-hydroxylase) at Cys428, Val281, and Ser268 result in complete, partial, or no loss of enzymatic activity, respectively.

PubMed ID: 1864962

DOI: 10.1172/jci115334

PubMed ID: 8081391

Title: Mutations in steroid 21-hydroxylase (CYP21).

PubMed ID: 8081391

DOI: 10.1002/humu.1380030408

PubMed ID: 3260007

Title: Molecular genetic analysis of nonclassic steroid 21-hydroxylase deficiency associated with HLA-B14,DR1.

PubMed ID: 3260007

DOI: 10.1056/nejm198807073190104

PubMed ID: 2303461

Title: A missense mutation at Ile172-->Asn or Arg356-->Trp causes steroid 21-hydroxylase deficiency.

PubMed ID: 2303461

DOI: 10.1016/s0021-9258(19)39804-7

PubMed ID: 1937474

Title: Substitution of Ile-172 to Asn in the steroid 21-hydroxylase B (P450c21B) gene in a Finnish patient with the simple virilizing form of congenital adrenal hyperplasia.

PubMed ID: 1937474

DOI: 10.1007/bf00201731

PubMed ID: 2072928

Title: A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele.

PubMed ID: 2072928

DOI: 10.1210/mend-5-5-685

PubMed ID: 1644925

Title: Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

PubMed ID: 1644925

DOI: 10.1172/jci115897

PubMed ID: 1406699

Title: Pro-453 to Ser mutation in CYP21 is associated with nonclassic steroid 21-hydroxylase deficiency.

PubMed ID: 1406699

DOI: 10.1210/mend.6.8.1406699

PubMed ID: 1496017

Title: Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations.

PubMed ID: 1496017

DOI: 10.1073/pnas.89.15.7232

PubMed ID: 8478006

Title: Steroid 21-hydroxylase (P450c21): a new allele and spread of mutations through the pseudogene.

PubMed ID: 8478006

DOI: 10.1007/bf00218263

PubMed ID: 7749410

Title: Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency.

PubMed ID: 7749410

DOI: 10.1002/humu.1380050205

PubMed ID: 9067760

Title: E380D: a novel point mutation of CYP21 in an HLA-homozygous patient with salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

PubMed ID: 9067760

DOI: 10.1002/(sici)1098-1004(1997)9:2<181::aid-humu12>3.0.co;2-z

PubMed ID: 9187661

Title: A cluster of missense mutations at Arg356 of human steroid 21-hydroxylase may impair redox partner interaction.

PubMed ID: 9187661

DOI: 10.1007/s004390050436

PubMed ID: 8989258

Title: Synergistic effect of partially inactivating mutations in steroid 21-hydroxylase deficiency.

PubMed ID: 8989258

DOI: 10.1210/jcem.82.1.3678

PubMed ID: 9580109

Title: Molecular genetic analysis of patients carrying steroid 21-hydroxylase deficiency in the Mexican population: identification of possible new mutations and high prevalence of apparent germ-line mutations.

PubMed ID: 9580109

DOI: 10.1007/s004390050672

PubMed ID: 9497336

Title: Naturally occurring mutants of human steroid 21-hydroxylase (P450c21) pinpoint residues important for enzyme activity and stability.

PubMed ID: 9497336

DOI: 10.1074/jbc.273.11.6163

PubMed ID: 10198222

Title: Effects of missense mutations and deletions on membrane anchoring and enzyme function of human steroid 21-hydroxylase (P450c21).

PubMed ID: 10198222

DOI: 10.1006/bbrc.1999.0482

PubMed ID: 10364682

Title: Mutation analysis in patients with congenital adrenal hyperplasia in the Spanish population: identification of putative novel steroid 21-hydroxylase deficiency alleles associated with the classic form of the disease.

PubMed ID: 10364682

DOI: 10.1159/000022866

PubMed ID: 10094562

Title: Identification of CYP21 mutations, one novel, by single strand conformational polymorphism (SSCP) analysis.

PubMed ID: 10094562

DOI: 10.1002/(sici)1098-1004(1999)13:2<172::aid-humu17>3.0.co;2-n

PubMed ID: 10408778

Title: Steroid 21-hydroxylase deficiency: mutational spectrum in Denmark, three novel mutations, and in vitro expression analysis.

PubMed ID: 10408778

DOI: 10.1002/(sici)1098-1004(1999)13:6<482::aid-humu8>3.0.co;2-0

PubMed ID: 10408786

Title: A rapid screening for steroid 21-hydroxylase mutations in patients with congenital adrenal hyperplasia.

PubMed ID: 10408786

DOI: 10.1002/(sici)1098-1004(1999)13:6<505::aid-humu16>3.0.co;2-0

PubMed ID: 10443693

Title: A novel missense mutation, GLY424SER, in Brazilian patients with 21-hydroxylase deficiency.

PubMed ID: 10443693

DOI: 10.1210/jcem.84.8.5937

PubMed ID: 10496074

Title: Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency.

PubMed ID: 10496074

DOI: 10.1007/s100380050167

PubMed ID: 10051010

Title: Mutation screening in British 21-hydroxylase deficiency families and development of novel microsatellite based approaches to prenatal diagnosis.

PubMed ID: 10051010

PubMed ID: 10391209

Title: Characterization of single-nucleotide polymorphisms in coding regions of human genes.

PubMed ID: 10391209

DOI: 10.1038/10290

PubMed ID: 10720040

Title: Predicting phenotype in steroid 21-hydroxylase deficiency? Comprehensive genotyping in 155 unrelated, well defined patients from southern Germany.

PubMed ID: 10720040

DOI: 10.1210/jcem.85.3.6441

PubMed ID: 11598371

Title: Molecular analysis of CYP-21 mutations for congenital adrenal hyperplasia in Singapore.

PubMed ID: 11598371

DOI: 10.1159/000049992

PubMed ID: 11232002

Title: Phenotype-genotype correlation in 56 women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency.

PubMed ID: 11232002

DOI: 10.1210/jcem.86.1.7131

PubMed ID: 11600539

Title: Mutational spectrum of the steroid 21-hydroxylase gene in Austria: identification of a novel missense mutation.

PubMed ID: 11600539

DOI: 10.1210/jcem.86.10.7898

PubMed ID: 11746135

Title: Novel mutations in the human CYP21 gene.

PubMed ID: 11746135

DOI: 10.1002/pd.167

PubMed ID: 12222711

Title: Non-classical 21-hydroxylase deficiency in children: association of adrenocorticotropic hormone-stimulated 17-hydroxyprogesterone with the risk of compound heterozygosity with severe mutations.

PubMed ID: 12222711

DOI: 10.1080/080352502760148595

PubMed ID: 12050257

Title: Novel mutations in CYP21 detected in individuals with hyperandrogenism.

PubMed ID: 12050257

DOI: 10.1210/jcem.87.6.8525

PubMed ID: 12213891

Title: Three novel mutations in CYP21 gene in Brazilian patients with the classical form of 21-hydroxylase deficiency due to a founder effect.

PubMed ID: 12213891

DOI: 10.1210/jc.2001-011939

PubMed ID: 12887291

Title: Mutational spectrum of congenital adrenal hyperplasia in Slovenian patients: a novel Ala15Thr mutation and Pro30Leu within a larger gene conversion associated with a severe form of the disease.

PubMed ID: 12887291

DOI: 10.1530/eje.0.1490137

PubMed ID: 12788866

Title: Follow-up of 68 children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: relevance of genotype for management.

PubMed ID: 12788866

DOI: 10.1210/jc.2002-021433

PubMed ID: 12915679

Title: CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations.

PubMed ID: 12915679

DOI: 10.1210/jc.2002-021681

PubMed ID: 14715874

Title: Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318X mutation.

PubMed ID: 14715874

DOI: 10.1210/jc.2003-031056

PubMed ID: 14676460

Title: Three novel mutations in Japanese patients with 21-hydroxylase deficiency.

PubMed ID: 14676460

DOI: 10.1159/000075587

PubMed ID: 15126570

Title: Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia.

PubMed ID: 15126570

DOI: 10.1210/jc.2003-031630

PubMed ID: 15110320

Title: Detection and assignment of CYP21 mutations using peptide mass signature genotyping.

PubMed ID: 15110320

DOI: 10.1016/j.ymgme.2004.02.006

PubMed ID: 16046588

Title: 21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia.

PubMed ID: 16046588

DOI: 10.1210/jc.2005-0379

PubMed ID: 16984992

Title: Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia: identification, functional characterization, and structural analysis.

PubMed ID: 16984992

DOI: 10.1210/jc.2006-0777

PubMed ID: 18319307

Title: p.H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency.

PubMed ID: 18319307

DOI: 10.1210/jc.2007-2701

PubMed ID: 18381579

Title: Inhibition of CYP21A2 enzyme activity caused by novel missense mutations identified in Brazilian and Scandinavian patients.

PubMed ID: 18381579

DOI: 10.1210/jc.2007-2594

PubMed ID: 18445671

Title: Functional and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia: potential relevance of helix C for P450 oxidoreductase-21-hydroxylase interaction.

PubMed ID: 18445671

DOI: 10.1210/jc.2007-2646

PubMed ID: 20080860

Title: Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier.

PubMed ID: 20080860

DOI: 10.1210/jc.2009-1202

PubMed ID: 21169732

Title: A large view of CYP21 locus among Sicilians and other populations: identification of a novel CYP21A2 variant in Sicily.

PubMed ID: 21169732

DOI: 10.3275/7417

PubMed ID: 22014889

Title: p.H282N and p.Y191H: 2 novel CYP21A2 mutations in Italian congenital adrenal hyperplasia patients.

PubMed ID: 22014889

DOI: 10.1016/j.metabol.2011.08.008

PubMed ID: 27721825

Title: Functional and structural consequences of nine CYP21A2 mutations ranging from very mild to severe effects.

PubMed ID: 27721825

DOI: 10.1155/2016/4209670

PubMed ID: 29328376

Title: Identification of a novel compound heterozygous mutation of the CYP21A2 gene causing 21-hydroxylase deficiency in a Chinese pedigree.

PubMed ID: 29328376

DOI: 10.3892/mmr.2018.8391

Sequence Information:

  • Length: 495
  • Mass: 56001
  • Checksum: CE5C4EE9D3A0851C
  • Sequence:
    • MLLLGLLLLL PLLAGARLLW NWWKLRSLHL PPLAPGFLHL LQPDLPIYLL GLTQKFGPIY 
RLHLGLQDVV VLNSKRTIEE AMVKKWADFA GRPEPLTYKL VSRNYPDLSL GDYSLLWKAH 
KKLTRSALLL GIRDSMEPVV EQLTQEFCER MRAQPGTPVA IEEEFSLLTC SIICYLTFGD 
KIKDDNLMPA YYKCIQEVLK TWSHWSIQIV DVIPFLRFFP NPGLRRLKQA IEKRDHIVEM 
QLRQHKESLV AGQWRDMMDY MLQGVAQPSM EEGSGQLLEG HVHMAAVDLL IGGTETTANT 
LSWAVVFLLH HPEIQQRLQE ELDHELGPGA SSSRVPYKDR ARLPLLNATI AEVLRLRPVV 
PLALPHRTTR PSSISGYDIP EGTVIIPNLQ GAHLDETVWE RPHEFWPDRF LEPGKNSRAL 
AFGCGARVCL GEPLARLELF VVLTRLLQAF TLLPSGDALP SLQPLPHCSV ILKMQPFQVR 
LQPRGMGAHS PGQSQ

Genular Protein ID: 1945496978

Symbol: Q08AG9_HUMAN

Name: N/A

UniProtKB Accession Codes:

Q08AG9

Database IDs:

ARBA 17 AlphaFoldDB 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChEBI 4 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 GO 7 Gene3D 1 IntAct 1 InterPro 4 KEGG 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PIRSR 1 PRINTS 2 PROSITE 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 RefSeq 2 RuleBase 1 SAM 1 SMR 1 SUPFAM 1

Citations:

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

Sequence Information:

  • Length: 495
  • Mass: 55973
  • Checksum: F98A00BE05EE372E
  • Sequence:
    • MLLLGLLLLL PLLAGARLLW NWWKLQSLHL PPLAPGFLHL LQPDLPIYLL GLTQKFGPIY 
RLHLGLQDVV VLNSKRTIEE AMVKKWADFA GRPEPLTYKL VSRNYPDLSL GDYSLLWKAH 
KKLTRSALLL GIRDSMEPVV EQLTQEFCER MRAQPGTPVA IEEEFSLLTC SIICYLTFGD 
KIKDDNLMPA YYKCIQEVLK TWSHWSIQIV DVIPFLRFFP NPGLRRLKQA IEKRDHIVEM 
QLRQHKESLV AGQWRDMMDY MLQGVAQPSM EEGSGQLLEG HVHMAAVDLL IGGTETTANT 
LSWAVVFLLH HPEIQQRLQE ELDHELGPGA SSSRVPYKDR ARLPLLNATI AEVLRLRPVV 
PLALPHRTTR PSSISGYDIP EGTVIIPNLQ GAHLDETVWE RPHEFWPDRF LEPGKNSRAL 
AFGCGARVCL GEPLARLELF VVLTRLLQAF TLLPSGDALP SLQPLPHCSV ILKMQPFQVR 
LQPRGMGAHS PGQSQ

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.