AutismKB 2.0

Annotation Detail for LRP2


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Basic Information Top
Gene Symbol:LRP2 ( DBS,GP330 )
Gene Full Name: low density lipoprotein receptor-related protein 2
Band: 2q31.1
Quick LinksEntrez ID:4036; OMIM: 600073; Uniprot ID:LRP2_HUMAN; ENSEMBL ID: ENSG00000081479; HGNC ID: 6694
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04340Hedgehog signaling pathway
Pathway IDPathway Name
Hormone biosynthesis
Metabolism of vitamins and cofactors
Metabolism of lipids and lipoproteins
Pathway IDPathway Name
200144Signaling events mediated by the Hedgehog family
Pathway IDPathway Name
P00004Alzheimer disease-presenilin pathway
Pathway IDPathway Name
500600Vitamin D (calciferol) metabolism
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1781Rheumatoid arthritis
1791Neuropathy
1831Prostate cancer
1904Diabetes mellitus
1946Thyroid gland disease
2032Kidney disease
No data
Desease Name
Hematological and biochemical traits
Desease Name
Donnai-Barrow syndrome
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of LRP2 mRNAaffects expression 21346803
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of LRP2 mRNAaffects expression 21346803
C040534 alpha-hexachlorocyclohexane alpha-hexachlorocyclohexane results in decreased expression of LRP2 mRNAdecreases expression 16940010
C095105 bexarotene bexarotene results in decreased expression of LRP2 mRNAdecreases expression 16648578
C006780 bisphenol A bisphenol A affects the expression of LRP2 mRNAaffects expression 20170705
D016572 Cyclosporine Cyclosporine results in decreased expression of LRP2 mRNAdecreases expression 20106945
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of LRP2 mRNAaffects expression 20170705
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of LRP2 mRNAaffects expression 20170705
D004997 Ethinyl Estradiol Ethinyl Estradiol results in decreased expression of LRP2 mRNAdecreases expression 17557909
15834898
16174780
17351261
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of LRP2 mRNAincreases expression 16940010
C014707 nitrosobenzylmethylamine nitrosobenzylmethylamine results in decreased expression of LRP2 mRNAdecreases expression 17616710
D011374 Progesterone Progesterone affects the expression of LRP2 mRNAaffects expression 17251523
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of LRP2 mRNAincreases expression 16467188
15800033
D014801 Vitamin A LRP2 protein results in increased uptake of and affects the abundance of Vitamin Aaffects abundance|increases uptake 16251603
D002762 Cholecalciferol Cholecalciferol results in increased expression of LRP2 mRNAincreases expression 17170073
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.0011752688 15322242 14514962
MESH:D000015 Abnormalities, Multiple Vitamin A 4.9710992263
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.1217505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8314692618
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.5316835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 9.3211748828
MESH:D000740 Anemia Vitamin A 9.3216960172
MESH:D018798 Anemia, Iron-Deficiency Vitamin A 4.9016960172
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.6011256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7315885639
MESH:D001249 Asthma Vitamin A 3.3816732791
MESH:D001327 Autoimmune Diseases Cholecalciferol 5.1716142846
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.1512125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.9615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8315746008
MESH:D001862 Bone Resorption bisphenol A 3.9711985600
MESH:D020201 Brain Hemorrhage, Traumatic Progesterone 5.5117868700
MESH:D001930 Brain Injuries Progesterone 4.4015665606 15380490 15845082
MESH:D001943 Breast Neoplasms bexarotene 2.0016344269 16818667
MESH:D001943 Breast Neoplasms bisphenol A 2.0017123778
MESH:D001943 Breast Neoplasms Progesterone 2.0015562024 17614352 16175315
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.0020435547
MESH:D001997 Bronchopulmonary Dysplasia Vitamin A 5.7517426644 17377406
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.8916835633
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 3.0016705839
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 3.0016705839
MESH:D002278 Carcinoma in Situ bisphenol A 5.1417123778
MESH:D002289 Carcinoma, Non-Small-Cell Lung bexarotene 3.2616247446
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4218850075 18670907 16120746
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 6.826135515
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 6.8212371664
MESH:D015362 Child Nutrition Disorders Vitamin A 5.6516153327
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2616835633
MESH:D002779 Cholestasis Cyclosporine 14.0219486331
MESH:D002779 Cholestasis Ethinyl Estradiol 14.0217681005 17333356 15861022 11677210 16919318 17110522 16105132
MESH:D002779 Cholestasis Vitamin A 14.0216175620
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 6.2815668235 16354765 15340226 12621046 8697196
MESH:D002972 Cleft Palate Vitamin A 6.2816054864
MESH:D003110 Colonic Neoplasms Vitamin A 3.0616267017 17219422
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1617141729 14669216
MESH:D019465 Craniofacial Abnormalities marker/mechanism 17632512
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.8510048152 20055451 15322242
MESH:D019465 Craniofacial Abnormalities Vitamin A 2.8510992263
MESH:D003490 Cyanosis 2,4-dinitrotoluene 11.3618551238
MESH:D003490 Cyanosis 2,6-dinitrotoluene 11.3618551238
MESH:D002658 Developmental Disabilities marker/mechanism 17632512
MESH:D003922 Diabetes Mellitus, Type 1 Vitamin A 3.5416506275
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6917107852
MESH:D003929 Diabetic Neuropathies Progesterone 4.6317187935
MESH:C536390 Donnai-Barrow syndrome marker/mechanism
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 6.3421346803 18551238
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 6.3418551238 21346803
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.3420420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8411462148
MESH:D015352 Dry Eye Syndromes Vitamin A 5.9616146918
MESH:C538011 Eales disease Vitamin A 5.799068938
MESH:D004480 Ectromelia Vitamin A 6.0016054864
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.4811000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.0816714409 15322242 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 9.4612538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Progesterone 9.4617692515
MESH:D004715 Endometriosis Progesterone 9.2816134523
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 9.2810568697 9294722
MESH:D004938 Esophageal Neoplasms nitrosobenzylmethylamine 2.8016510608 16704527 15264214 15623463 15878914 16805852 15547733 15547721 15150132
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0911564622
MESH:D015785 Eye Diseases, Hereditary marker/mechanism 17632512
MESH:D005234 Fatty Liver Cyclosporine 7.9519224547
MESH:D005234 Fatty Liver Ethinyl Estradiol 7.9515345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.5911858732
MESH:D005327 Fetal Resorption Vitamin A 5.5416054864
MESH:D005355 Fibrosis Cyclosporine 8.9512639820 12168785
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 8.9520067830
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.378708960
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.7710696789
MESH:D006319 Hearing Loss, Sensorineural marker/mechanism 17632512
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 7.0910048152 11294989
MESH:D006330 Heart Defects, Congenital Vitamin A 7.0916080930 10992263
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.5815720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4411000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.0316120746 15340226 12621046
MESH:D006548 Hernia, Diaphragmatic marker/mechanism 17632512
MESH:D006548 Hernia, Diaphragmatic Vitamin A 3.6516292552 16877224 17436238 16863852 16490937 15707848
MESH:D015658 HIV Infections Vitamin A 3.8716960176
MESH:D006679 HIV Seropositivity Vitamin A 5.7517209195
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.2218606429 8697196 16354765 15340226 16959395
MESH:D006973 Hypertension Cyclosporine 5.0710903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.0718670907 18850075
MESH:D006986 Hypervitaminosis A Vitamin A 6.3416054864
MESH:D007021 Hypospadias Ethinyl Estradiol 3.9516569931 16945680
MESH:D020244 Infarction, Middle Cerebral Artery Progesterone 4.5415869954
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.5812013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.5617937319
MESH:D007249 Inflammation Progesterone 5.1515869954
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.1512200463 12878042
MESH:D007333 Insulin Resistance bisphenol A 3.3616393666
MESH:D019586 Intracranial Hypertension Vitamin A 6.0015955940
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4416580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.6215604871
MESH:D007674 Kidney Diseases marker/mechanism 17632512
MESH:D007674 Kidney Diseases Cyclosporine 2.4018776723 10903974 8314463
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 12.9116705839
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 12.9116705839
MESH:D007680 Kidney Neoplasms Cyclosporine 12.9112371664
MESH:D017880 Limb Deformities, Congenital Vitamin A 4.3916054864
MESH:D008103 Liver Cirrhosis Vitamin A 3.9316256175
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.7112878042
MESH:D008106 Liver Cirrhosis, Experimental Vitamin A 2.7116248980
MESH:D008107 Liver Diseases Vitamin A 3.1716175620
MESH:D008108 Liver Diseases, Alcoholic Vitamin A 5.2916762690
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 4.497678174
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.4916984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 10.322876784 2876786 6135515
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 10.3212151625
MESH:D008114 Liver Neoplasms, Experimental Vitamin A 10.3217113696
MESH:D008171 Lung Diseases Vitamin A 4.1616863852
MESH:D008175 Lung Neoplasms bexarotene 2.5617849452
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.5611884234 19555203
MESH:D016410 Lymphoma, T-Cell, Cutaneous bexarotene 5.2811161223
MESH:D008325 Mammary Neoplasms, Experimental bexarotene 6.6019196722 15591091 19196723
MESH:D008325 Mammary Neoplasms, Experimental Progesterone 6.6011408345 17203775
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.9616801185
MESH:D009101 Multiple Myeloma Vitamin A 4.1316374440
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1112213967
MESH:D009336 Necrosis 2,4-dinitrotoluene 10.8718551238
MESH:D009336 Necrosis 2,6-dinitrotoluene 10.877678174 18551238
MESH:D009376 Neoplasms, Hormone-Dependent bexarotene 4.9619196722
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.6217954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.3819348381 18481113
MESH:D009421 Nervous System Malformations bisphenol A 10.0111399458 16427766
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 10.0114600291
MESH:D009436 Neural Tube Defects Vitamin A 4.1317400914
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 9.2316049721 12819281
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 9.2316049721
MESH:D010049 Ovarian Diseases bisphenol A 5.1411985600
MESH:D010051 Ovarian Neoplasms Progesterone 2.5516525653 17393432
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.8011578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.4212520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.6918163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.3212371664
MESH:D011297 Prenatal Exposure Delayed Effects bisphenol A 10.0310548101
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.0311118676 11896295 11399792 11222880
MESH:D019048 Prostatic Intraepithelial Neoplasia bisphenol A 4.3220887781
MESH:D011471 Prostatic Neoplasms bisphenol A 3.6616740699
MESH:D011471 Prostatic Neoplasms Cholecalciferol 3.6617024972
MESH:D011537 Pruritus Ethinyl Estradiol 3.4716919318 15861022
MESH:D011565 Psoriasis Cyclosporine 2.2616882103
MESH:D011629 Puberty, Precocious bisphenol A 4.9410548101
MESH:D012127 Respiratory Distress Syndrome, Newborn Vitamin A 5.9616877224
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.9618990726
MESH:D012468 Salivary Gland Neoplasms Progesterone 2.8918045962
MESH:D012640 Seizures 2,4-dinitrotoluene 6.1118551238
MESH:D012640 Seizures 2,6-dinitrotoluene 6.1118551238
MESH:D012871 Skin Diseases Vitamin A 3.3818709164
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.0916192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.1216709447
MESH:D013119 Spinal Cord Injuries Progesterone 4.4315862959 16503802
MESH:D013274 Stomach Neoplasms nitrosobenzylmethylamine 2.3217575124 12958204
MESH:D019966 Substance-Related Disorders bisphenol A 4.1416684133 16045194
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.7411994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.2515669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.0812697716
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 5.1416049721
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 5.1416049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 12.5110091137
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 12.5110091137
MESH:D014591 Uterine Diseases bisphenol A 5.1814652134
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.4214692618
MESH:D014605 Uveitis Cyclosporine 4.161336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.7712125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.6514671159 15869587
MESH:D014802 Vitamin A Deficiency Vitamin A 5.3916146918 16960172 16175781
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.4215886252
MESH:D014985 Xerophthalmia Cyclosporine 4.6217120751
Pathway ID Pathway Name
KEGG:04340 Hedgehog signaling pathway
REACT:15314 Hormone biosynthesis
REACT:22258 Metabolism of lipids and lipoproteins
REACT:11193 Metabolism of vitamins and cofactors
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA30452
    • No data
    Releated disease ID Related disease Name
    PA162263533nephrotoxicity
    PA162263534Ototoxicity
    PA443756Colonic Neoplasms
    Releated drug ID Related drug Name
    PA448717calcitriol
    PA449014cisplatin
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00013 - Urokinase Thrombolytic Agents
    DB00030 - Insulin recombinant Hypoglycemic Agents
    DB00071 - Insulin, porcine Hypoglycemic Agents
    DB00798 other/unknown Valisone G Ointment Anti-Bacterial Agents;Protein Synthesis Inhibitors;Aminoglycosides
    No data
    No data
    No data

    Simple Query:


      (e.g. CHD8)

    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


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