AutismKB 2.0

Annotation Detail for CUBN


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Basic Information Top
Gene Symbol:CUBN ( FLJ90055,FLJ90747,IFCR,MGA1,gp280 )
Gene Full Name: cubilin (intrinsic factor-cobalamin receptor)
Band: 10p13
Quick LinksEntrez ID:8029; OMIM: 602997; Uniprot ID:CUBN_HUMAN; ENSEMBL ID: ENSG00000107611; HGNC ID: 2548
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
Pathway IDPathway Name
Hormone biosynthesis
Metabolism of vitamins and cofactors
Metabolism of lipids and lipoproteins
No data
No data
Pathway IDPathway Name
500600Vitamin D (calciferol) metabolism
500797HDL-mediated lipid transport
Related Diseases/Disorders Top
No data
No data
Desease Name
quantitative traits
METABOLIC
folate pathway vitamin levels
Desease Name
Folate pathway vitamin levels
Quantitative traits
Desease Name
Megaloblastic anemia-1, Finnish type
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride affects the expression of CUBN mRNAaffects expression 16483693
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of CUBN mRNAaffects binding|decreases expression|increases activity 19710929
C006253 pirinixic acid pirinixic acid results in decreased expression of CUBN mRNAdecreases expression 17426115
D014212 Tretinoin Tretinoin results in increased expression of CUBN mRNAincreases expression 16236135
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 4.3018287403
MESH:D055371 Acute Lung Injury pirinixic acid 3.6418653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.2216434500
MESH:D000505 Alopecia Tretinoin 3.9815955085
MESH:D000749 Anemia, Megaloblastic marker/mechanism
MESH:D001169 Arthritis, Experimental Tretinoin 3.3216412693
MESH:D001172 Arthritis, Rheumatoid Tretinoin 2.3416292516
MESH:D001249 Asthma Tretinoin 2.4416456186
MESH:D001471 Barrett Esophagus Tretinoin 4.9916935849
MESH:D001778 Blood Coagulation Disorders pirinixic acid 10.6319483382
MESH:D001778 Blood Coagulation Disorders Tretinoin 10.6316206674 16197459
MESH:D001943 Breast Neoplasms Tretinoin 2.2316443354 16166294 16873071
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 5.3316813970
MESH:D018236 Carcinoma, Embryonal Tretinoin 6.0316168501
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 1.921917145
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 2.3816051514 16096774
MESH:D002386 Cataract Tretinoin 3.3217460283
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 5.3316129372
MESH:D002779 Cholestasis pirinixic acid 3.1519176532
MESH:D002822 Choriocarcinoma Tretinoin 6.0316461808
MESH:D002972 Cleft Palate Tretinoin 2.819407595
MESH:D003092 Colitis Tretinoin 4.3517035595
MESH:D019465 Craniofacial Abnormalities Tretinoin 1.8317551590 9224671 8800419 9125849 10589399 9211117 16925845 9142499 9664655 14991402
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5918249437
MESH:D004487 Edema pirinixic acid 2.9612083418
MESH:D004489 Edema, Cardiac Tretinoin 5.3318230668
MESH:D016889 Endometrial Neoplasms Tretinoin 3.3716569247
MESH:D005124 Eye Abnormalities Tretinoin 3.909664655 16938888
MESH:D005234 Fatty Liver pirinixic acid 3.2519236843 20131406
MESH:D005355 Fibrosis Tretinoin 4.1617994277
MESH:D005909 Glioblastoma Tretinoin 3.2717312396
MESH:D006258 Head and Neck Neoplasms Tretinoin 3.4616096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 6.0316084493
MESH:D006330 Heart Defects, Congenital Tretinoin 3.099664655 14991402
MESH:D006333 Heart Failure pirinixic acid 2.7820558911
MESH:D006529 Hepatomegaly pirinixic acid 3.6419772884 16221962 18467677 19176532
MESH:D006930 Hyperalgesia Tretinoin 3.5716870215
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 5.2216778211
MESH:D006943 Hyperglycemia pirinixic acid 3.6320558911
MESH:D007333 Insulin Resistance pirinixic acid 2.9016306350
MESH:D007410 Intestinal Diseases Tretinoin 4.4217994277
MESH:D007569 Jaw Abnormalities Tretinoin 4.3917551590 15992940
MESH:D007938 Leukemia Tretinoin 2.9517143497
MESH:D007951 Leukemia, Myeloid Tretinoin 4.1816482212 16932348 19285840
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 2.1317596541 19850784 16294345
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 3.4219035177 17506722 19642359 15748426 16140955 16331271 16891316 17301526 17107899 16766008 17712046 19029980 17339181 19225113 17649720 17368321 9834237 12679006 17217047 16935935 16823087 16788101 17294898 19075265 17361223
MESH:D017880 Limb Deformities, Congenital Tretinoin 3.629224671
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.4415474484
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 2.4418397230 16248980
MESH:D008113 Liver Neoplasms pirinixic acid 1.9415890375 16377806 20007298
MESH:D008527 Medulloblastoma Tretinoin 2.9217453147
MESH:D008545 Melanoma Tretinoin 1.9916752155
MESH:D008591 Meningomyelocele Tretinoin 5.0816940565
MESH:D009135 Muscular Diseases pirinixic acid 4.1616239165
MESH:D009190 Myelodysplastic Syndromes Tretinoin 3.3017596541
MESH:D009203 Myocardial Infarction pirinixic acid 2.2919151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2916411023
MESH:D009369 Neoplasms pirinixic acid 5.5317405874
MESH:D009369 Neoplasms Tretinoin 5.5316594593 16946489
MESH:D009421 Nervous System Malformations Tretinoin 4.369125849
MESH:D009436 Neural Tube Defects Tretinoin 3.329142499
MESH:D009765 Obesity pirinixic acid 1.8920558911
MESH:D010051 Ovarian Neoplasms Tretinoin 2.4516936753
MESH:D010146 Pain Tretinoin 3.2816870215
MESH:D010190 Pancreatic Neoplasms Tretinoin 2.5815976015
MESH:D011507 Proteinuria Tretinoin 4.1316636307
MESH:D011625 Pterygium Tretinoin 5.5416723453
MESH:D015427 Reperfusion Injury pirinixic acid 2.5619058328
MESH:D012208 Rhabdomyosarcoma Tretinoin 4.6316283617 16116481
MESH:D012878 Skin Neoplasms Tretinoin 2.7816467112
MESH:D013274 Stomach Neoplasms Tretinoin 1.8017261132
MESH:D013964 Thyroid Neoplasms Tretinoin 3.3616026305 17045167
MESH:D014062 Tongue Neoplasms Tretinoin 4.2416051514
MESH:D014376 Tuberculosis Tretinoin 3.4716040207
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 4.1216129372
MESH:D014604 Uveal Neoplasms Tretinoin 5.4816752155
MESH:D014820 Vitiligo Tretinoin 4.6416761959
MESH:D009396 Wilms Tumor Tretinoin 4.3916287080
Pathway ID Pathway Name
REACT:15314 Hormone biosynthesis
REACT:22258 Metabolism of lipids and lipoproteins
REACT:11193 Metabolism of vitamins and cofactors
KEGG:04977 Vitamin digestion and absorption
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA27044
    • No data
    Releated disease ID Related disease Name
    PA443560Breast Neoplasms
    Releated drug ID Related drug Name
    PA448717calcitriol
    PA450952phospholipids
    PA145007158torcetrapib
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00115 - Liver-Stomach Concentrate with Intrinsic Factor Antianemic Agents;Essential Vitamin;Vitamins (Vitamin B Complex)
    DB00200 other Vege 1 Daily Caplet Nutritional Supplement;Anti-anemic Agents;Vitamin B Complex;Hematinics
    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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