Showing entry for Steroid 21-hydroxylase


　 　 　 　 　 　 　 　 　 　 　 　
General Target Information
BXGT IdBXGT006813
Protein NameSteroid 21-hydroxylase
Uniport IdP08686
GeneCYP21A2
Gene Id1589
Domainp450
Pfam PF00067  
OrganismHomo sapiens (Human)
Target protein  affiliated  biological  pathways
KEGG
Class Subclass KEGG Id Pathway Name
1. Metabolism 1.3 Lipid metabolism hsa00140 Steroid hormone biosynthesis
1. Metabolism 1.0 Global and overview maps hsa01100 Metabolic pathways
5. Organismal Systems 5.2 Endocrine system hsa04925 Aldosterone synthesis and secretion
5. Organismal Systems 5.2 Endocrine system hsa04927 Cortisol synthesis and secretion
6. Human Diseases 6.7 Endocrine and metabolic diseases hsa04934 Cushing syndrome
Gene Ontology
GO Type GO Id Gene Ontology
Biological Process GO:0006704 glucocorticoid biosynthetic process
Biological Process GO:0006705 mineralocorticoid biosynthetic process
Biological Process GO:0006694 steroid biosynthetic process
Biological Process GO:0008202 steroid metabolic process
Biological Process GO:0016125 sterol metabolic process
molecular function GO:0020037 heme binding
molecular function GO:0005506 iron ion binding
molecular function GO:0004509 steroid 21-monooxygenase activity
molecular function GO:0005496 steroid binding
molecular function GO:0008395 steroid hydroxylase activity
cellular component GO:0005789 endoplasmic reticulum membrane
Reactome
Pathway Id Pathway Name
R-HSA-1430728 Metabolism
R-HSA-1643685 Disease
R-HSA-193993 Mineralocorticoid biosynthesis
R-HSA-194002 Glucocorticoid biosynthesis
R-HSA-196071 Metabolism of steroid hormones
R-HSA-211859 Biological oxidations
R-HSA-211897 Cytochrome P450 - arranged by substrate type
R-HSA-211945 Phase I - Functionalization of compounds
R-HSA-211976 Endogenous sterols
R-HSA-556833 Metabolism of lipids
R-HSA-5579021 Defective CYP21A2 causes Adrenal hyperplasia 3 (AH3)
R-HSA-5579029 Metabolic disorders of biological oxidation enzymes
R-HSA-5668914 Diseases of metabolism
R-HSA-8957322 Metabolism of steroids
Target protein-related  diseases
Disease
CUI Id BXGD Id Disease Name Disease Class
C0000772 BXGD000009 Multiple congenital anomalies Congenital, Hereditary, and Neonatal Diseases and Abnormalities
C0001403 BXGD000048 Addison Disease Immune System Diseases; Endocrine System Diseases
C0001430 BXGD000054 Adenoma Neoplasms
C0001618 BXGD000063 Tumors of Adrenal Cortex Neoplasms; Endocrine System Diseases
C0001623 BXGD000066 Adrenal gland hypofunction Endocrine System Diseases
C0001624 BXGD000067 Adrenal Gland Neoplasms Neoplasms; Endocrine System Diseases
C0001627 BXGD000068 Congenital adrenal hyperplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C0001948 BXGD000091 Alcohol consumption Behavior and Behavior Mechanisms
C0003872 BXGD000235 Arthritis, Psoriatic Skin and Connective Tissue Diseases; Musculoskeletal Diseases
C0003873 BXGD000236 Rheumatoid Arthritis Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
C0004352 BXGD000269 Autistic Disorder Mental Disorders
C0004364 BXGD000270 Autoimmune Diseases Immune System Diseases
C0005890 BXGD000345 Body Height
C0008074 BXGD000519 Child Development Disorders, Pervasive Mental Disorders
C0008312 BXGD000527 Primary biliary cirrhosis Pathological Conditions, Signs and Symptoms; Digestive System Diseases
C0009324 BXGD000597 Ulcerative Colitis Digestive System Diseases
C0010068 BXGD000648 Coronary heart disease Cardiovascular Diseases
C0011847 BXGD000749 Diabetes Endocrine System Diseases
C0011849 BXGD000751 Diabetes Mellitus Nutritional and Metabolic Diseases; Endocrine System Diseases
C0011854 BXGD000753 Diabetes Mellitus, Insulin-Dependent Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases
C0011860 BXGD000755 Diabetes Mellitus, Non-Insulin-Dependent Nutritional and Metabolic Diseases; Endocrine System Diseases
C0013720 BXGD000861 Ehlers-Danlos Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
C0014175 BXGD000904 Endometriosis Female Urogenital Diseases and Pregnancy Complications
C0014772 BXGD000948 Red Blood Cell Count measurement
C0016529 BXGD001068 Forced expiratory volume function
C0017654 BXGD001136 Glomerular Filtration Rate
C0017661 BXGD001139 IGA Glomerulonephritis Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases
C0017665 BXGD001141 Membranous glomerulonephritis Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases
C0018051 BXGD001167 Gonadal Dysgenesis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C0018213 BXGD001187 Graves Disease Eye Diseases; Immune System Diseases; Endocrine System Diseases
C0018418 BXGD001192 Gynecomastia Skin and Connective Tissue Diseases
C0019163 BXGD001295 Hepatitis B Digestive System Diseases; Infections
C0020538 BXGD001422 Hypertensive disease Cardiovascular Diseases
C0020555 BXGD001431 Hypertrichosis Skin and Connective Tissue Diseases
C0020595 BXGD001438 Hypoaldosteronism Endocrine System Diseases
C0020615 BXGD001445 Hypoglycemia Nutritional and Metabolic Diseases
C0021704 BXGD001510 Intelligence Behavior and Behavior Mechanisms
C0023508 BXGD001675 White Blood Cell Count procedure
C0023806 BXGD001705 Lipomucopolysaccharidosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0024141 BXGD001740 Lupus Erythematosus, Systemic Skin and Connective Tissue Diseases; Immune System Diseases
C0025517 BXGD001875 Metabolic Diseases Nutritional and Metabolic Diseases
C0026650 BXGD001913 Movement Disorders Nervous System Diseases
C0026769 BXGD001930 Multiple Sclerosis Immune System Diseases; Nervous System Diseases
C0026896 BXGD001946 Myasthenia Gravis Neoplasms; Immune System Diseases; Nervous System Diseases
C0027651 BXGD002009 Neoplasms Neoplasms
C0028754 BXGD002082 Obesity Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases
C0030809 BXGD002258 Pemphigus Vulgaris Skin and Connective Tissue Diseases; Immune System Diseases
C0032460 BXGD002355 Polycystic Ovary Syndrome Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases
C0034013 BXGD002450 Precocious Puberty Endocrine System Diseases
C0035021 BXGD002501 Relapsing Fever Infections
C0036202 BXGD002581 Sarcoidosis Hemic and Lymphatic Diseases
C0036341 BXGD002600 Schizophrenia Mental Disorders
C0036421 BXGD002613 Systemic Scleroderma Skin and Connective Tissue Diseases
C0036868 BXGD002639 Sex Chromosome Aberrations Pathological Conditions, Signs and Symptoms
C0037369 BXGD002691 Smoking Behavior and Behavior Mechanisms
C0038443 BXGD002757 Stress, Psychological Behavior and Behavior Mechanisms
C0039263 BXGD002805 Takayasu Arteritis Skin and Connective Tissue Diseases; Cardiovascular Diseases
C0041408 BXGD002923 Turner Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases
C0042900 BXGD003012 Vitiligo Skin and Connective Tissue Diseases
C0043046 BXGD003024 Wasting Syndrome Nutritional and Metabolic Diseases
C0149678 BXGD003346 Epstein-Barr Virus Infections Infections
C0149745 BXGD003356 Oral Ulcer Stomatognathic Diseases
C0151449 BXGD003419 Primary Sjögren's syndrome Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases
C0151779 BXGD003473 Cutaneous Melanoma Neoplasms; Skin and Connective Tissue Diseases
C0152013 BXGD003516 Adenocarcinoma of lung (disorder) Neoplasms
C0156394 BXGD003856 Hypertrophy of clitoris Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications
C0162309 BXGD003934 Adrenoleukodystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases
C0162538 BXGD003954 Immunoglobulin A deficiency (disorder) Immune System Diseases; Hemic and Lymphatic Diseases
C0201657 BXGD004051 C-reactive protein measurement
C0202117 BXGD004074 Low density lipoprotein cholesterol measurement
C0202236 BXGD004086 Triglycerides measurement
C0205682 BXGD004105 Waist-Hip Ratio
C0206081 BXGD004152 Hyperandrogenism Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C0206667 BXGD004228 Adrenal Cortical Adenoma Neoplasms; Endocrine System Diseases
C0221757 BXGD004472 alpha 1-Antitrypsin Deficiency Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases
C0242379 BXGD005157 Malignant neoplasm of lung Neoplasms; Respiratory Tract Diseases
C0242383 BXGD005160 Age related macular degeneration Eye Diseases
C0262361 BXGD005229 Growth abnormality
C0265987 BXGD005598 Nevus comedonicus Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Skin and Connective Tissue Diseases
C0266362 BXGD005657 Ambiguous Genitalia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C0268226 BXGD005858 Type I Mucolipidosis Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
C0268287 BXGD005884 Deficiency of steroid 21-monooxygenase Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C0268288 BXGD005885 Mild steroid 21-hydroxylase deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C0268292 BXGD005886 Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C0268337 BXGD005901 Ehlers-Danlos syndrome, type 3 (disorder) Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
C0268542 BXGD005977 Ornithine carbamoyltransferase deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases
C0271084 BXGD006159 Exudative age-related macular degeneration Eye Diseases
C0271527 BXGD006208 Cryptogenic sexual precocity Endocrine System Diseases
C0271737 BXGD006252 Addison's disease due to autoimmunity Immune System Diseases; Endocrine System Diseases
C0272178 BXGD006316 Drug-induced neutropenia Hemic and Lymphatic Diseases
C0302280 BXGD006836 Adrenogenital Syndrome Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C0342464 BXGD007482 Salt-losing congenital adrenal hyperplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C0342467 BXGD007483 Late onset congenital adrenal hyperplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C0342541 BXGD007499 Precocious pubarche Endocrine System Diseases
C0342543 BXGD007500 Central Precocious Puberty Endocrine System Diseases
C0342546 BXGD007502 Premature adrenarche
C0343804 BXGD007648 Chronic Chagas' disease Infections
C0376338 BXGD007990 Diagnosis, Psychiatric Mental Disorders
C0405580 BXGD008325 Adrenal cortical hypofunction Endocrine System Diseases
C0406481 BXGD008343 Comedonal acne Skin and Connective Tissue Diseases
C0424605 BXGD008535 Developmental delay (disorder) Mental Disorders
C0424678 BXGD008537 Lean body mass
C0428883 BXGD008639 Diastolic blood pressure
C0455806 BXGD008858 Infant length
C0455988 BXGD008860 Hydrops Fetalis, Non-Immune Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases
C0520463 BXGD009085 Chronic active hepatitis Digestive System Diseases
C0524587 BXGD009232 Mean Corpuscular Volume (result)
C0524620 BXGD009236 Metabolic Syndrome X Nutritional and Metabolic Diseases
C0524909 BXGD009247 Hepatitis B, Chronic Digestive System Diseases; Infections
C0553723 BXGD009416 Squamous cell carcinoma of skin Neoplasms; Skin and Connective Tissue Diseases
C0557874 BXGD009444 Global developmental delay
C0565599 BXGD009488 Maternal hypertension Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases
C0577573 BXGD009531 Mass of body region
C0587178 BXGD009615 Anti-nuclear antibody measurement
C0596887 BXGD009648 mathematical ability
C0684249 BXGD009790 Carcinoma of lung Neoplasms; Respiratory Tract Diseases
C0700379 BXGD009890 Total iron binding capacity function
C0848558 BXGD010882 Hypospadias Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
C0852036 BXGD010934 Pregnancy associated hypertension Female Urogenital Diseases and Pregnancy Complications; Cardiovascular Diseases
C0852654 BXGD010947 21-hydroxylase deficiency
C0871470 BXGD011316 Systolic Pressure
C0920350 BXGD011466 Autoimmune thyroiditis Immune System Diseases; Endocrine System Diseases
C1153706 BXGD011769 Endometrial adenocarcinoma Neoplasms; Female Urogenital Diseases and Pregnancy Complications
C1269683 BXGD012001 Major Depressive Disorder Mental Disorders
C1274700 BXGD012040 Postmenopausal frontal fibrosing alopecia
C1283048 BXGD012160 Iron binding capacity total measurement
C1384514 BXGD012940 Conn Syndrome Endocrine System Diseases
C1445957 BXGD013081 Serum total cholesterol measurement
C1519383 BXGD013237 Smoking Behaviors Behavior and Behavior Mechanisms
C1536085 BXGD013334 Geographic Atrophy Eye Diseases
C1611743 BXGD013456 Familial (FPAH)
C1621895 BXGD013466 Adrenal hyperplasia Pathological Conditions, Signs and Symptoms; Neoplasms; Endocrine System Diseases
C1629609 BXGD013479 Age at menopause
C1836230 BXGD014099 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO
C1836231 BXGD014100 HIV-1, RESISTANCE TO
C1836232 BXGD014101 ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO
C1836233 BXGD014102 AIDS, PROGRESSION TO
C1846347 BXGD014802 Renal salt wasting
C1848029 BXGD014901 Ehlers-Danlos syndrome caused by tenascin-X deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases
C1857276 BXGD015688 Trichohepatoenteric Syndrome Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases
C1859995 BXGD015948 Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C1859998 BXGD015949 CARCINOMA, ADRENOCORTICAL, ANDROGEN-SECRETING
C1955743 BXGD016607 Mineralocorticoid deficiency Endocrine System Diseases
C1956346 BXGD016627 Coronary Artery Disease Cardiovascular Diseases
C2103602 BXGD016918 Autoimmune Primary Adrenal Insufficiency Immune System Diseases; Endocrine System Diseases
C2237660 BXGD016962 exudative macular degeneration Eye Diseases
C2239176 BXGD016965 Liver carcinoma Digestive System Diseases; Neoplasms
C2239219 BXGD016966 von Willebrand's factor (lab test)
C2698399 BXGD017453 Myeloperoxidase Measurement
C2721603 BXGD017540 Henoch-Schonlein purpura nephritis Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases
C2752038 BXGD017758 HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4
C2936858 BXGD018147 Congenital adrenal hyperplasia due to 21 hydroxylase deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C2985280 BXGD018223 Blood Protein Measurement
C3150275 BXGD018300 COMPLEMENT COMPONENT 2 DEFICIENCY
C3151153 BXGD018401 ADENOMA, CORTISOL-PRODUCING
C3281289 BXGD018896 TRICHOHEPATOENTERIC SYNDROME 2
C3669121 BXGD019323 11-Beta-hydroxylase deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C3714772 BXGD019433 Recurrent fevers
C3809950 BXGD019623 COMPLEMENT FACTOR B DEFICIENCY
C3838669 BXGD019758 Simple Virilizing 21-Hydroxylase Deficiency
C4021107 BXGD020557 Non-obstructive azoospermia Male Urogenital Diseases
C4021797 BXGD020787 Abnormality of the thorax
C4255374 BXGD022314 Frontal fibrosing alopecia
C4282398 BXGD022421 Sialidase deficiency Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases
C4329672 BXGD022788 Classic Congenital Adrenal Hyperplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases
C4732730 BXGD023895 Blood spots
Target protein-related  compounds
Compounds
BXGC Id Compound Name Strcuture Molecular Weight
BXGC0001325 Progesterone 314.46
BXGC0008676 Haem 616.49
The  target protein-related  foods
Foods
BXGF Id Food Name Scientific Name Food Group Number of compound? Number of compound in food, higher numbers indicate the food are more associated with the protein