AutismKB 2.0

Annotation Detail for SPAG9


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Basic Information Top
Gene Symbol:SPAG9 ( CT89,FLJ13450,FLJ14006,FLJ26141,FLJ34602,HLC-6,HLC4,JIP-4,JIP4,JLP,KIAA0516,MGC117291,MGC14967,MGC74461,PHET,PIG6 )
Gene Full Name: sperm associated antigen 9
Band: 17q21.33
Quick LinksEntrez ID:9043; OMIM: 605430; Uniprot ID:JIP4_HUMAN; ENSEMBL ID: ENSG00000008294; HGNC ID: 14524
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
Pathway IDPathway Name
Myogenesis
Pathway IDPathway Name
200046Arf6 trafficking events
No data
Pathway IDPathway Name
500556CDO in myogenesis
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1818Systemic scleroderma
1934Cancer
1979Testicular dysfunction
No data
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of SPAG9 mRNAaffects expression 21346803
D017638 Asbestos, Crocidolite Asbestos, Crocidolite results in increased expression of SPAG9 mRNAincreases expression 18687144
D001564 Benzo(a)pyrene Benzo(a)pyrene results in increased expression of SPAG9 mRNAincreases expression 20127859
D016572 Cyclosporine Cyclosporine results in increased expression of SPAG9 mRNAincreases expression 20106945
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of SPAG9 mRNAaffects binding|decreases expression|increases activity 19710929
D018038 Sodium Selenite Sodium Selenite results in decreased expression of SPAG9 mRNAdecreases expression 18175754
C004648 testosterone enanthate testosterone enanthate affects the expression of SPAG9 mRNAaffects expression 17440010
D019772 Topotecan SPAG9 protein affects the susceptibility to Topotecanaffects response to substance 16217747
D014212 Tretinoin SPAG9 protein promotes the reaction [Tretinoin results in increased phosphorylation of MAPK8 protein]increases phosphorylation|increases reaction 16619266
D014212 Tretinoin Tretinoin promotes the reaction [SPAG9 protein binds to GNA13 protein]affects binding|increases reaction 16619266
D014212 Tretinoin Tretinoin results in increased expression of SPAG9 proteinincreases expression 16619266
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury pirinixic acid 3.3418653653
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0220464547 20127859
MESH:D000236 Adenoma Benzo(a)pyrene 2.766695378
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.7616434500
MESH:D000505 Alopecia Tretinoin 3.7815955085
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.3319183758
MESH:D001169 Arthritis, Experimental Tretinoin 3.1916412693
MESH:D001172 Arthritis, Rheumatoid Tretinoin 2.3016292516
MESH:D001249 Asthma Tretinoin 2.3916456186
MESH:D001471 Barrett Esophagus Tretinoin 4.6416935849
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.6719483382
MESH:D001778 Blood Coagulation Disorders Tretinoin 9.6716206674 16197459
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.0820146248 17474063
MESH:D001943 Breast Neoplasms Tretinoin 2.0816166294 16873071 16443354
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 4.8816813970
MESH:D018236 Carcinoma, Embryonal Tretinoin 5.4816168501
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 3.0916705839
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 3.091917145
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 4.7420419170
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 4.7416096774 16051514
MESH:D002386 Cataract Tretinoin 3.2017460283
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 7.036135515
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 7.0312371664
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 4.8816129372
MESH:D002779 Cholestasis Cyclosporine 8.2619486331
MESH:D002779 Cholestasis pirinixic acid 8.2619176532
MESH:D002822 Choriocarcinoma Tretinoin 5.4816461808
MESH:D019457 Chromosome Breakage Sodium Selenite 5.0115894690
MESH:D002972 Cleft Palate Tretinoin 2.749407595
MESH:D003092 Colitis Tretinoin 3.9617035595
MESH:D019465 Craniofacial Abnormalities Tretinoin 1.8310589399 9125849 17551590 14991402 9224671 16925845 9211117 9664655 9142499 8800419
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.2818551238
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5118249437
MESH:D003920 Diabetes Mellitus Sodium Selenite 3.9616285004
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 4.1421346803 18551238
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 4.1415131321
MESH:D004487 Edema pirinixic acid 2.6812083418
MESH:D004489 Edema, Cardiac Tretinoin 4.7818230668
MESH:D016889 Endometrial Neoplasms Tretinoin 3.2316569247
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0516530937
MESH:D005124 Eye Abnormalities Tretinoin 3.739664655 16938888
MESH:D005234 Fatty Liver Cyclosporine 8.2519224547
MESH:D005234 Fatty Liver pirinixic acid 8.2520131406 19236843
MESH:D005355 Fibrosis Cyclosporine 9.5712168785 12639820
MESH:D005355 Fibrosis Tretinoin 9.5717994277
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.508708960
MESH:D005909 Glioblastoma Tretinoin 3.1317312396
MESH:D006258 Head and Neck Neoplasms Tretinoin 3.3216096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 5.4816084493
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.9820471113
MESH:D006330 Heart Defects, Congenital Tretinoin 6.989664655 14991402
MESH:D006333 Heart Failure pirinixic acid 2.6520558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.7115720958
MESH:D006529 Hepatomegaly pirinixic acid 3.2518467677 19772884 16221962 19176532
MESH:D019247 HIV Wasting Syndrome testosterone enanthate 6.0617440010
MESH:D006930 Hyperalgesia Tretinoin 3.3716870215
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 4.8316778211
MESH:D006943 Hyperglycemia pirinixic acid 3.3820558911
MESH:D006973 Hypertension Cyclosporine 2.1610903974
MESH:D007333 Insulin Resistance pirinixic acid 7.7416306350
MESH:D007333 Insulin Resistance Sodium Selenite 7.7414714311
MESH:D007410 Intestinal Diseases Tretinoin 4.0217994277
MESH:D007569 Jaw Abnormalities Tretinoin 4.1115992940 17551590
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.7615604871
MESH:D007674 Kidney Diseases Cyclosporine 2.448314463 10903974 18776723
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 7.8516705839
MESH:D007680 Kidney Neoplasms Cyclosporine 7.8512371664
MESH:D007938 Leukemia Tretinoin 2.8617143497
MESH:D007951 Leukemia, Myeloid Tretinoin 3.9016932348 16482212 19285840
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 2.1016294345 19850784 17596541
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 3.2817107899 16935935 15748426 17368321 17339181 19225113 16140955 17301526 16766008 19029980 16891316 17506722 17294898 17649720 17712046 12679006 16823087 16788101 19075265 19035177 17361223 19642359 17217047 9834237 16331271
MESH:D017880 Limb Deformities, Congenital Tretinoin 3.459224671
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.3915474484
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 2.3918397230 16248980
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 7.777678174
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 7.7720195826 21137059
MESH:D008113 Liver Neoplasms pirinixic acid 7.7720007298 16377806 15890375
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 2.662876786 6135515 2876784
MESH:D055370 Lung Injury Asbestos, Crocidolite 4.2817365036
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 1.5618816296 20869020 18569708 20064080 17053015 20135361 18520028 6695378 20464547
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.2814737004
MESH:D008527 Medulloblastoma Tretinoin 2.8517453147
MESH:D008545 Melanoma Tretinoin 1.9616752155
MESH:D008591 Meningomyelocele Tretinoin 4.6816940565
MESH:D008654 Mesothelioma Asbestos, Crocidolite 3.2516966607 16166281 18303189
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.1116801185
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.3516381670
MESH:D009135 Muscular Diseases pirinixic acid 3.7616239165
MESH:D009190 Myelodysplastic Syndromes Tretinoin 3.1917596541
MESH:D009203 Myocardial Infarction pirinixic acid 2.2119151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1016411023
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.1518551238 7678174
MESH:D009369 Neoplasms Benzo(a)pyrene 8.7311141357
MESH:D009369 Neoplasms pirinixic acid 8.7317405874
MESH:D009369 Neoplasms Tretinoin 8.7316594593 16946489
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.7617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.4719348381 18481113
MESH:D009421 Nervous System Malformations Tretinoin 4.029125849
MESH:D009436 Neural Tube Defects Tretinoin 3.189142499
MESH:D009447 Neuroblastoma Topotecan 3.9415176712
MESH:D009765 Obesity pirinixic acid 1.8520558911
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.6216049721
MESH:D010051 Ovarian Neoplasms Tretinoin 2.4016936753
MESH:D010146 Pain Tretinoin 3.0716870215
MESH:D010190 Pancreatic Neoplasms Tretinoin 2.5215976015
MESH:D010995 Pleural Diseases Asbestos, Crocidolite 5.1510923243
MESH:D011230 Precancerous Conditions Cyclosporine 3.4012371664
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.1717292933
MESH:D011471 Prostatic Neoplasms Sodium Selenite 3.1718760546
MESH:D011507 Proteinuria Tretinoin 3.8216636307
MESH:D011565 Psoriasis Cyclosporine 2.2916882103
MESH:D011625 Pterygium Tretinoin 5.0816723453
MESH:D011658 Pulmonary Fibrosis Asbestos, Crocidolite 3.0915814490 17365031 17975199 17322281
MESH:D015427 Reperfusion Injury pirinixic acid 2.4719058328
MESH:D012208 Rhabdomyosarcoma Tretinoin 4.3216116481 16283617
MESH:D012640 Seizures 2,6-dinitrotoluene 2.6718551238
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.9719755658 10029692
MESH:D012878 Skin Neoplasms Tretinoin 5.9716467112
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.3920155912 2093021
MESH:D013274 Stomach Neoplasms Tretinoin 2.3917261132
MESH:D013964 Thyroid Neoplasms Tretinoin 3.1816026305 17045167
MESH:D014062 Tongue Neoplasms Tretinoin 3.9816051514
MESH:D014376 Tuberculosis Tretinoin 3.3416040207
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 5.2116049721
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 5.2117053015
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.6010091137
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 3.8716129372
MESH:D014604 Uveal Neoplasms Tretinoin 4.9316752155
MESH:D014605 Uveitis Cyclosporine 4.301336536
MESH:D014820 Vitiligo Tretinoin 4.2916761959
MESH:D009396 Wilms Tumor Tretinoin 4.1516287080
MESH:D014985 Xerophthalmia Cyclosporine 4.7617120751
Pathway ID Pathway Name
REACT:21350 Activation of p38 alpha/beta MAPK
REACT:21303 Myogenesis
Pharmacogenomics Knowledge Base Top
Drug Bank Top

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  (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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