AutismKB 2.0

Annotation Detail for SH3PXD2A


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Basic Information Top
Gene Symbol:SH3PXD2A ( FISH,SH3MD1,TSK5 )
Gene Full Name: SH3 and PX domains 2A
Band: 10q24.33
Quick LinksEntrez ID:9644; OMIM: NA; Uniprot ID:SPD2A_HUMAN; ENSEMBL ID: ENSG00000107957; HGNC ID: 23664
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of SH3PXD2A mRNAaffects expression 21346803
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of SH3PXD2A proteinaffects expression 20106945
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of SH3PXD2A mRNAdecreases expression 20106945
20064835
D016572 Cyclosporine Cyclosporine results in decreased expression of SH3PXD2A mRNAdecreases expression 20106945
D002117 Calcitriol Calcitriol results in increased expression of SH3PXD2A mRNAincreases expression 16002434
D004958 Estradiol Estradiol results in decreased expression of SH3PXD2A mRNAdecreases expression 20106945
D008628 Mercury Mercury results in increased expression of SH3PXD2A mRNAincreases expression 16823088
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of SH3PXD2A mRNAdecreases expression 20106945
D014212 Tretinoin Tretinoin results in decreased expression of SH3PXD2A mRNAdecreases expression 16604517
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.1315322242 14514962 11752688
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.4320464547 20127859
MESH:D000230 Adenocarcinoma Estradiol 4.4311473722
MESH:D000236 Adenoma Benzo(a)pyrene 2.766695378
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.6616835633
MESH:D000505 Alopecia Tretinoin 3.7815955085
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1411748828
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:D001321 Autistic Disorder Mercury 2.7717497416
MESH:D001327 Autoimmune Diseases Mercury 5.1316634805
MESH:D001471 Barrett Esophagus Tretinoin 4.6416935849
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.6312125929
MESH:D001778 Blood Coagulation Disorders Tretinoin 9.6316206674 16197459
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8915746008
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.3820146248 17474063
MESH:D001943 Breast Neoplasms Calcitriol 2.3811237771
MESH:D001943 Breast Neoplasms Estradiol 2.3812948864 18497071 17018787 19861407 17261762 16675129 14630087 17289903
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.3820435547
MESH:D001943 Breast Neoplasms Tretinoin 2.3816873071 16166294 16443354
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 4.8816813970
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.7516111702
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9616835633
MESH:D018236 Carcinoma, Embryonal Tretinoin 5.4816168501
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 6.8116705839
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 6.8112619106 21507988 12907637
MESH:D006528 Carcinoma, Hepatocellular Estradiol 6.8116924424
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 6.811917145
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 7.8520419170
MESH:D002294 Carcinoma, Squamous Cell Calcitriol 7.8511237771
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 7.8516051514 16096774
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4718850075 16120746 18670907
MESH:D002311 Cardiomyopathy, Dilated Mercury 3.5110334427
MESH:D002386 Cataract Tretinoin 3.2017460283
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 11.956135515
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 11.9512371664
MESH:D002471 Cell Transformation, Neoplastic Estradiol 11.9518566989
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 4.8816129372
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3416835633
MESH:D002779 Cholestasis Cyclosporine 3.0619486331
MESH:D002822 Choriocarcinoma Tretinoin 5.4816461808
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 6.0212621046 15340226 15668235 8697196 16354765
MESH:D002972 Cleft Palate Tretinoin 6.029407595
MESH:D003092 Colitis Tretinoin 3.9617035595
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2417141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5020055451 15322242 10048152
MESH:D019465 Craniofacial Abnormalities Tretinoin 2.5016925845 9125849 9142499 17551590 10589399 9211117 9224671 9664655 8800419 14991402
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.2818551238
MESH:D017449 Dermatitis, Allergic Contact Mercury 4.0516823706
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7117107852
MESH:D003928 Diabetic Nephropathies Estradiol 3.5919279558
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 3.8718551238 21346803
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.8720420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9111462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.5812711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 13.0318230668 16714409 15322242
MESH:D004489 Edema, Cardiac Tretinoin 13.0318230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Calcitriol 4.1715138306
MESH:D016889 Endometrial Neoplasms Estradiol 7.8411473722 19148513 18566989
MESH:D016889 Endometrial Neoplasms Tretinoin 7.8416569247
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.219294722 10568697
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0516530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 9.3411564622
MESH:D005124 Eye Abnormalities Tretinoin 9.349664655 16938888
MESH:D005234 Fatty Liver Cyclosporine 3.0619224547
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7111858732
MESH:D005355 Fibrosis Cyclosporine 16.2912168785 12639820
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 16.2920067830
MESH:D005355 Fibrosis Tretinoin 16.2917994277
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.508708960
MESH:D005909 Glioblastoma Tretinoin 3.1317312396
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9110696789
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 11.6620471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 11.6610048152 11294989
MESH:D006330 Heart Defects, Congenital Tretinoin 11.669664655 14991402
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.7115720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5411000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.1516120746 12621046 15340226
MESH:D006558 Herpes Genitalis Estradiol 5.3515709030
MESH:D019584 Hot Flashes Estradiol 4.0717088409
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.3616959395 15340226 16354765 18606429 8697196
MESH:D006930 Hyperalgesia Tretinoin 3.3716870215
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 4.8316778211
MESH:D006973 Hypertension Cyclosporine 5.1710903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.1718670907 18850075
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9512878042 12200463
MESH:D007333 Insulin Resistance Estradiol 3.0916393666 16627594
MESH:D007410 Intestinal Diseases Tretinoin 4.0217994277
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 10.6316580747
MESH:D007569 Jaw Abnormalities Tretinoin 10.6315992940 17551590
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.7615604871
MESH:D007674 Kidney Diseases Cyclosporine 10.8010903974 8314463 18776723
MESH:D007674 Kidney Diseases Estradiol 10.8015618244
MESH:D007674 Kidney Diseases Mercury 10.8017934191
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 13.3916705839
MESH:D007680 Kidney Neoplasms Cyclosporine 13.3912371664
MESH:D007680 Kidney Neoplasms Estradiol 13.3915610895
MESH:D007938 Leukemia Tretinoin 2.8617143497
MESH:D007951 Leukemia, Myeloid Tretinoin 3.9016932348 19285840 16482212
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 2.1017596541 19850784 16294345
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 3.2817217047 17361223 19225113 12679006 17301526 16891316 16331271 17712046 15748426 17107899 16935935 17649720 9834237 16788101 19029980 17506722 16140955 17339181 19035177 16823087 17368321 19075265 16766008 17294898 19642359
MESH:D017880 Limb Deformities, Congenital Tretinoin 3.459224671
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 3.5514716833 14659978
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.5512878042
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 3.5518397230 16248980
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 11.267678174
MESH:D008113 Liver Neoplasms Aflatoxin B1 11.262125692 18177683 9163691 15890375
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 11.2620195826 21137059
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 11.2616984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 10.512876784 2876786 6135515
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 10.518603461
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 10.5112151625
MESH:D008175 Lung Neoplasms Aflatoxin B1 3.4714755239
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 3.4720869020 6695378 20064080 18520028 18816296 20464547 18569708 17053015 20135361
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.4719555203 11884234
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 2.6811807958 11408345 17203775 16891317
MESH:D020149 Manganese Poisoning Estradiol 4.8019453300
MESH:D008527 Medulloblastoma Tretinoin 2.8517453147
MESH:D008545 Melanoma Tretinoin 1.9616752155
MESH:D008591 Meningomyelocele Tretinoin 4.6816940565
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.1116801185
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.3516381670
MESH:D009190 Myelodysplastic Syndromes Tretinoin 3.1917596541
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1812213967
MESH:D015428 Myocardial Reperfusion Injury Estradiol 3.4416810080
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.157678174 18551238
MESH:D009369 Neoplasms Benzo(a)pyrene 5.2911141357
MESH:D009369 Neoplasms Tretinoin 5.2916594593 16946489
MESH:D009389 Neovascularization, Pathologic Estradiol 4.0217289903
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.7617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.4719348381 18481113
MESH:D009421 Nervous System Malformations Estradiol 17.7811399458 16427766
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 17.7814600291
MESH:D009421 Nervous System Malformations Tretinoin 17.789125849
MESH:D009436 Neural Tube Defects Tretinoin 3.189142499
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.6216049721
MESH:D010051 Ovarian Neoplasms Estradiol 4.9919401270
MESH:D010051 Ovarian Neoplasms Tretinoin 4.9916936753
MESH:D010146 Pain Tretinoin 3.0716870215
MESH:D010190 Pancreatic Neoplasms Tretinoin 2.5215976015
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.5712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8018163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.4012371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.4811896295 11399792 11118676 11222880
MESH:D011470 Prostatic Hyperplasia Calcitriol 5.0615572423
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 4.0920887781
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.5217292933
MESH:D011471 Prostatic Neoplasms Calcitriol 2.5216289102 18247401 12479363 16644109 15754350
MESH:D011471 Prostatic Neoplasms Estradiol 2.5216740699
MESH:D011507 Proteinuria Tretinoin 3.8216636307
MESH:D011565 Psoriasis Cyclosporine 2.2916882103
MESH:D011625 Pterygium Tretinoin 5.0816723453
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0818990726
MESH:D012208 Rhabdomyosarcoma Tretinoin 4.3216116481 16283617
MESH:D012640 Seizures 2,6-dinitrotoluene 2.6718551238
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 9.8919755658 10029692
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 9.8916192470
MESH:D012878 Skin Neoplasms Tretinoin 9.8916467112
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.392093021 20155912
MESH:D013274 Stomach Neoplasms Tretinoin 2.3917261132
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2212697716
MESH:D013964 Thyroid Neoplasms Tretinoin 3.1817045167 16026305
MESH:D013978 Tibial Fractures Estradiol 5.0019048282
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:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9112125929
MESH:D014820 Vitiligo Tretinoin 4.2916761959
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.5715886252
MESH:D009396 Wilms Tumor Tretinoin 4.1516287080
MESH:D014985 Xerophthalmia Cyclosporine 4.7617120751
No data
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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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