Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
1594
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Cytochrome P450 family 27 subfamily B member 1 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
CYP27B1 |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
CP2B, CYP1, CYP1alpha, CYP27B, P450c1, PDDR, VDD1, VDDR, VDDRI, VDR |
Chromosome
Chromosome number
|
12 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
12q14.1 |
Summary
Summary of gene provided in NCBI Entrez 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. The protein encode |
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs28934604 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
rs28934605 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
rs28934606 |
C>G,T |
Pathogenic |
Missense variant, coding sequence variant |
rs28934607 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
rs118204007 |
G>C |
Pathogenic |
Coding sequence variant, missense variant |
rs118204008 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
rs118204009 |
C>T |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
rs118204010 |
G>A,C |
Pathogenic |
Coding sequence variant, missense variant |
rs118204011 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
rs118204012 |
T>C |
Pathogenic |
Coding sequence variant, missense variant |
rs387906258 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs387906259 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs387906260 |
C>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs555068245 |
G>A,C |
Pathogenic |
Coding sequence variant, missense variant |
rs568165874 |
C>G,T |
Pathogenic |
Coding sequence variant, missense variant |
rs759208930 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
rs761780097 |
C>G,T |
Pathogenic |
Splice donor variant |
rs763437121 |
C>-,CC |
Pathogenic |
Coding sequence variant, frameshift variant |
rs767480544 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
rs770204470 |
C>T |
Pathogenic |
Splice donor variant |
rs780950819 |
->GGGTGGG |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1057520815 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
rs1555202494 |
C>T |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Hypercalcemia |
Hypercalcemia |
rs876657376, rs387907322, rs777676129, rs387907323, rs114368325, rs6068812, rs387907324, rs777947329, rs201304511, rs769409705, rs200095793, rs876661338, rs1554095500, rs139763321, rs774432244, rs781367354 View all (1 more) |
20427501 |
Hyperparathyroidism |
Hyperparathyroidism, Secondary |
rs28942098, rs121434262, rs80356649, rs121434264, rs587776558, rs587776559, rs121909259, rs104893689, rs28936684, rs104893690, rs869320729, rs104893700, rs104893705, rs104893707, rs104893709, rs863223311, rs80356650, rs193922432, rs886041637, rs201633414, rs1057519419, rs766719790, rs1281361203, rs759393722, rs1342435095, rs1200458339, rs755916513, rs1586190048, rs1558280170 View all (14 more) |
|
Multiple sclerosis |
Multiple Sclerosis |
rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544 View all (4 more) |
19525955 |
Vitamin d-dependent rickets |
Vitamin D-dependent rickets, type 1 |
rs28934604, rs28934605, rs28934606, rs387906258, rs387906259, rs387906260, rs118204007, rs761780097, rs118204008, rs118204009, rs2140397731, rs770204470, rs118204010, rs118204011, rs61495246, rs121909790, rs121909791, rs121909792, rs121909802, rs121909794, rs121909795, rs121909796, rs121909797, rs121909798, rs121909800, rs121909801, rs1592107753, rs267607169, rs111033566, rs886037890, rs568165874, rs780950819, rs1057520815, rs1057521095, rs555068245, rs763437121, rs767480544, rs749537609 View all (23 more) |
10518789, 22443290, 25284246, 12050193, 21700898, 30282619, 11737215, 9486994, 9837822, 10320521, 23423976, 10566658 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Vitamin D-Dependent Rickets |
vitamin D-dependent rickets, type 1A |
|
|
GenCC |
Multiple Sclerosis |
Multiple Sclerosis |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Abortion Habitual |
Inhibit
|
28033387 |
Addison Disease |
Associate
|
24614117 |
Adenoma |
Stimulate
|
22511602 |
Adenoma Islet Cell |
Associate
|
23979957 |
Arthritis Rheumatoid |
Associate
|
34925313 |
Asthma |
Associate
|
36839181 |
Autism Spectrum Disorder |
Associate
|
26073892 |
Autoimmune Diseases |
Associate
|
23614044, 25060765 |
Bipolar Disorder |
Associate
|
35279108 |
Bone Diseases Metabolic |
Associate
|
30887870 |
Breast Neoplasms |
Associate
|
16280049, 17878529, 26632252, 31041852 |
Breast Neoplasms |
Inhibit
|
19331145 |
Carcinogenesis |
Associate
|
28821819 |
Carcinoma Basal Cell |
Associate
|
15077124 |
Carcinoma Non Small Cell Lung |
Associate
|
25544771, 34836039, 36364930 |
Carcinoma Squamous Cell |
Associate
|
27765924 |
Cardiovascular Diseases |
Inhibit
|
40237935 |
Chronic Kidney Disease Mineral and Bone Disorder |
Associate
|
33211721 |
Colonic Neoplasms |
Associate
|
12899539, 17257827 |
Colorectal Neoplasms |
Associate
|
19706847, 21084270, 23423976, 28009432, 28665452, 28821819, 31434255, 32260235, 33058307 |
Coronary Artery Disease |
Associate
|
24736319 |
COVID 19 |
Associate
|
34147082, 36833234 |
Crohn Disease |
Stimulate
|
30429108 |
Cytomegalovirus Infections |
Associate
|
34578991 |
Diabetes Gestational |
Associate
|
32407388 |
Diabetes Mellitus |
Associate
|
40237935 |
Diabetes Mellitus Type 1 |
Associate
|
17606874, 21441443, 25060765, 37170809 |
Diabetes Mellitus Type 2 |
Associate
|
32542627 |
Drug Related Side Effects and Adverse Reactions |
Associate
|
35752163 |
Fasciculation |
Associate
|
26253396 |
Fat Necrosis |
Associate
|
18811689 |
Glioblastoma |
Associate
|
16886678 |
Heart Failure |
Associate
|
19891555 |
Hepatitis B Chronic |
Associate
|
25060765 |
Hereditary Breast and Ovarian Cancer Syndrome |
Associate
|
16886688 |
HIV Infections |
Associate
|
23877860 |
Hyperbilirubinemia Neonatal |
Associate
|
37259065 |
Hypercalcemia |
Associate
|
26253396, 30290590, 35965075 |
Hyperparathyroidism Secondary |
Associate
|
23186957 |
Hypertension |
Associate
|
19891555, 28827564, 36983047 |
Hypocalcemia |
Associate
|
27353739 |
Inflammation |
Associate
|
26253396 |
Inflammatory Bowel Diseases |
Associate
|
30429108 |
Lupus Erythematosus Systemic |
Associate
|
33594806 |
Lupus Erythematosus Systemic |
Inhibit
|
36326421 |
Lupus Nephritis |
Associate
|
36326421 |
Lymphoma Large B Cell Diffuse |
Associate
|
35965075 |
Malacoplakia |
Associate
|
30290590 |
Melanoma |
Associate
|
17172823, 22576141, 22995334, 25334067, 31235702 |
Multiple Sclerosis |
Associate
|
20648053, 21431378, 23160276, 24308945, 25526461, 32518073, 32540991, 33484325, 34855907, 34977256 |
Myopathies Structural Congenital |
Associate
|
39333342 |
N syndrome |
Associate
|
22992568 |
Neoplasm Invasiveness |
Inhibit
|
20831823 |
Neoplasm Metastasis |
Associate
|
22511602, 26632252 |
Neoplasm Metastasis |
Inhibit
|
22995334 |
Neoplasms |
Associate
|
16886678, 19331145, 25501638, 25544771, 26241700, 26501255, 35488273, 39333342 |
Nephritis |
Associate
|
36326421 |
Nephrocalcinosis |
Associate
|
27353739, 33004071 |
Obesity |
Associate
|
28787727, 35712242 |
Obesity |
Inhibit
|
31652924 |
Osteosarcoma |
Associate
|
40148931 |
Ovarian Neoplasms |
Associate
|
19667158, 25501638 |
Parkinson Disease |
Associate
|
35166042 |
Prostatic Neoplasms |
Associate
|
18649741, 20687218, 21358824, 25488826, 32102946 |
Psoriasis |
Associate
|
23995795 |
Pulmonary Disease Chronic Obstructive |
Associate
|
39583968 |
Rickets |
Associate
|
22855339, 25371233, 33004071 |
Seminoma |
Associate
|
37242266 |
Spasm |
Associate
|
27353739 |
Thyroid Carcinoma Anaplastic |
Associate
|
22511602 |
Thyroid Neoplasms |
Stimulate
|
22511602 |
Thyroid Neoplasms |
Associate
|
22690899 |
Turner Syndrome |
Associate
|
30887870 |
Urinary Tract Infections |
Associate
|
34578991 |
Urologic Diseases |
Associate
|
31235702 |
Uveal melanoma |
Associate
|
31235702 |
Uveitis |
Associate
|
23614044 |
Uveomeningoencephalitic Syndrome |
Associate
|
27716192 |
Vitamin D Deficiency |
Associate
|
22855339, 23877860, 30993743, 34578991, 35256680, 37259065 |
Vitamin D Dependent Rickets Type 2A |
Associate
|
11737215, 33004071 |
Vitamin D Hydroxylation Deficient Rickets Type 1A |
Associate
|
10320521, 1971995, 23444327, 25371233, 26132292, 27353739, 35600579, 35663328, 9486994 |
Xanthomatosis Cerebrotendinous |
Associate
|
11737215 |
|