Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

7421

Name

VDR

Synonym

NR1I1|PPP1R163;vitamin D (1,25- dihydroxyvitamin D3) receptor;VDR;vitamin D (1,25- dihydroxyvitamin D3) receptor

Definition

1,25-dihydroxyvitamin D3 receptor|nuclear receptor subfamily 1 group I member 1|protein phosphatase 1, regulatory subunit 163|vitamin D nuclear receptor variant 1|vitamin D3 receptor

Position

12q13.11

Gene Type

protein-coding

TSG scores

Description

TUSON ranking

17650

TUSON P-value

1

Pathways and Diseases

Pathway

Vitamin D metabolism and pathway;PANTHER;P04396

Pathway

RXR and RAR heterodimerization with other nuclear receptor;PID Curated;200112

Pathway

Direct p53 effectors;PID Curated;200101

Pathway

Regulation of nuclear SMAD2/3 signaling;PID Curated;200002

Pathway

Retinoic acid receptors-mediated signaling;PID Curated;200142

Pathway

Gene Expression;Reactome;REACT:71

Disease

pulmonary tuberculosis;GAD

Disease

combined bone mass;GAD

Disease

autoimmune hepatitis;GAD

Disease

HEMATOLOGICAL;GAD

Disease

Chronic Periodontitis;GAD

Disease

kidney stone disease;GAD

Disease

birth height growth to adolescence and adult stature;GAD

Disease

bone density;GAD

Disease

Osteoporosis;GAD

Disease

Difference in height;GAD

Disease

Crohn's disease;GAD

Disease

serum total and ionized calcium concentration;GAD

Disease

hepatitis B;GAD

Disease

obesity;GAD

Disease

early osteoarthritis;GAD

Disease

diabetes, type 2;GAD

Disease

AGING;GAD

Disease

Vitamin D deficiency rickets;GAD

Disease

leisure physical activity;GAD

Disease

chronic renal failure.;GAD

Disease

prostatic hyperplasia;GAD

Disease

Osteoporosis, Postmenopausal;GAD

Disease

BsmI vitamin D receptor gene polymorphism;GAD

Disease

osteonecrosis;GAD

Disease

renal cell carcinoma;GAD

Disease

breast cancer risk;GAD

Disease

bone metastases;GAD

Disease

calcific aortic valve stenosis;GAD

Disease

IMMUNE;GAD

Disease

Addison's disease;GAD

Disease

osteoarthritis;GAD

Disease

psoriasis;GAD

Disease

prostate cancer;GAD

Disease

PHARMACOGENOMIC;GAD

Disease

METABOLIC;GAD

Disease

periodontitis;GAD

Disease

sex-dependent growth;GAD

Disease

INFECTION;GAD

Disease

Rickets, vitamin D-resistant, type IIA;OMIM

Disease

Nephrolithiasis;GAD

Disease

colorectal cancer;GAD

Disease

Bone Mineral Density;GAD

Disease

tuberculosis;GAD

Disease

radiographic osteoarthritis at the knee;GAD

Disease

benign prostatic hyperplasia and benign prostatic enlargement;GAD

Disease

diabetes, type 1;GAD

Disease

lead toxicity;GAD

Disease

primary biliary cirrhosis;GAD

Disease

CARDIOVASCULAR;GAD

Disease

malignant melanoma;GAD

Disease

arthritis, juvenile;GAD

Disease

calcium oxalate stone disease;GAD

Disease

CANCER;GAD

Disease

melanoma;GAD

Disease

NORMALVARIATION;GAD

Disease

dengue hemorrhagic fever;GAD

Disease

pregnancy loss, recurrent;GAD

Disease

fat-free mass and sarcopenia;GAD

Disease

hyperthyroidism;GAD

Disease

Osteoporosis, involutional;OMIM

Disease

REPRODUCTION;GAD

Disease

lumbar disc disease;GAD

Disease

periodontitis, early-onset;GAD

Disease

bone mass;GAD

Disease

leprosy type;GAD

Disease

multiple sclerosis;GAD

Disease

urolithiasis;GAD

Disease

calcium;GAD

Disease

breast cancer;GAD

Disease

juvenile idiopathic arthritis;GAD

Disease

betaCL osteocalcin;GAD

Disease

metastatic breast cancer;GAD

Disease

end stage renal disease;GAD

Disease

Calcium Nephrolithiasis;GAD

Disease

rickets;GAD

Disease

breast cancer development;GAD

Disease

RENAL;GAD

Disease

Progression to AIDS;GAD

Disease

Lupus;GAD

Disease

Grave`s disease;GAD

External Links

Links to Entrez Gene

7421

Links to all GeneRIF Items

7421

Links to iHOP

7421

Sequence Information

The sequences provided here are only the longest representative sequences, not covering all the isoforms.

Nucleotide Sequence

>7421 : length: 1284
atggaggcaatggcggccagcacttccctgcctgaccctggagactttgaccggaacgtg
ccccggatctgtggggtgtgtggagaccgagccactggctttcacttcaatgctatgacc
tgtgaaggctgcaaaggcttcttcaggcgaagcatgaagcggaaggcactattcacctgc
cccttcaacggggactgccgcatcaccaaggacaaccgacgccactgccaggcctgccgg
ctcaaacgctgtgtggacatcggcatgatgaaggagttcattctgacagatgaggaagtg
cagaggaagcgggagatgatcctgaagcggaaggaggaggaggccttgaaggacagtctg
cggcccaagctgtctgaggagcagcagcgcatcattgccatactgctggacgcccaccat
aagacctacgaccccacctactccgacttctgccagttccggcctccagttcgtgtgaat
gatggtggagggagccatccttccaggcccaactccagacacactcccagcttctctggg
gactcctcctcctcctgctcagatcactgtatcacctcttcagacatgatggactcgtcc
agcttctccaatctggatctgagtgaagaagattcagatgacccttctgtgaccctagag
ctgtcccagctctccatgctgccccacctggctgacctggtcagttacagcatccaaaag
gtcattggctttgctaagatgataccaggattcagagacctcacctctgaggaccagatc
gtactgctgaagtcaagtgccattgaggtcatcatgttgcgctccaatgagtccttcacc
atggacgacatgtcctggacctgtggcaaccaagactacaagtaccgcgtcagtgacgtg
accaaagccggacacagcctggagctgattgagcccctcatcaagttccaggtgggactg
aagaagctgaacttgcatgaggaggagcatgtcctgctcatggccatctgcatcgtctcc
ccagatcgtcctggggtgcaggacgccgcgctgattgaggccatccaggaccgcctgtcc
aacacactgcagacgtacatccgctgccgccacccgcccccgggcagccacctgctctat
gccaagatgatccagaagctagccgacctgcgcagcctcaatgaggagcactccaagcag
taccgctgcctctccttccagcctgagtgcagcatgaagctaacgccccttgtgctcgaa
gtgtttggcaatgagatctcctga

Protein Sequence

>7421 : length: 427
MEAMAASTSLPDPGDFDRNVPRICGVCGDRATGFHFNAMTCEGCKGFFRRSMKRKALFTC
PFNGDCRITKDNRRHCQACRLKRCVDIGMMKEFILTDEEVQRKREMILKRKEEEALKDSL
RPKLSEEQQRIIAILLDAHHKTYDPTYSDFCQFRPPVRVNDGGGSHPSRPNSRHTPSFSG
DSSSSCSDHCITSSDMMDSSSFSNLDLSEEDSDDPSVTLELSQLSMLPHLADLVSYSIQK
VIGFAKMIPGFRDLTSEDQIVLLKSSAIEVIMLRSNESFTMDDMSWTCGNQDYKYRVSDV
TKAGHSLELIEPLIKFQVGLKKLNLHEEEHVLLMAICIVSPDRPGVQDAALIEAIQDRLS
NTLQTYIRCRHPPPGSHLLYAKMIQKLADLRSLNEEHSKQYRCLSFQPECSMKLTPLVLE
VFGNEIS



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