AutismKB 2.0

Annotation Detail for SHANK3


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Basic Information Top
Gene Symbol:SHANK3 ( DEL22q13.3,KIAA1650,PROSAP2,PSAP2,SPANK-2 )
Gene Full Name: SH3 and multiple ankyrin repeat domains 3
Band: 22q13.33
Quick LinksEntrez ID:85358; OMIM: 606230; Uniprot ID:F2Z3L0_HUMAN; ENSEMBL ID: ENSG00000251322; HGNC ID: 14294
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
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Desease Name
Chromosome 22q13.3 deletion syndrome
Autism, chromosome 22q13.3 deletion syndrome-related
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of SHANK3 mRNAaffects expression 21346803
C014347 decitabine decitabine results in increased expression of SHANK3 mRNAincreases expression 17419801
D008715 Methionine Methionine results in decreased expression of SHANK3 mRNAdecreases expression 17419801
D008715 Methionine Methionine results in decreased expression of SHANK3 proteindecreases expression 17419801
D015032 Zinc Zinc affects the folding of SHANK3 proteinaffects folding 16793273
D015032 Zinc Zinc binds to SHANK3 proteinaffects binding 16793273
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000169 Acrodermatitis Zinc 6.0317190629 16889938 17202136
MESH:D000544 Alzheimer Disease Zinc 2.8217119284 16325427 16580781 16410023
MESH:D000755 Anemia, Sickle Cell Zinc 5.4116916123
MESH:D001249 Asthma Zinc 3.0417085522
MESH:D001321 Autistic Disorder marker/mechanism 18621663
MESH:D001321 Autistic Disorder Methionine 3.5916917939 19056591 19267885
MESH:D001930 Brain Injuries Zinc 5.2517109824
MESH:D001943 Breast Neoplasms decitabine 2.5318320071 19208741
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 1.7916705839
MESH:D002294 Carcinoma, Squamous Cell decitabine 5.3019215824
MESH:D002294 Carcinoma, Squamous Cell Zinc 5.3016543248
MESH:D002318 Cardiovascular Diseases Zinc 3.9216936243
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 3.036135515
MESH:D002659 Child Development Disorders, Pervasive marker/mechanism 18252227 17173049
MESH:D002659 Child Development Disorders, Pervasive Methionine 4.4319267885
MESH:D003110 Colonic Neoplasms decitabine 2.3817616700
MESH:D015179 Colorectal Neoplasms decitabine 2.1118981723
MESH:D019465 Craniofacial Abnormalities Zinc 2.4419302082
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.5818551238
MESH:D002658 Developmental Disabilities marker/mechanism 16284256
MESH:D003920 Diabetes Mellitus Zinc 4.5716479319
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 2.0518551238 21346803
MESH:D004701 Endocrine Gland Neoplasms decitabine 5.8419294695
MESH:D004938 Esophageal Neoplasms Zinc 2.9316543248
MESH:D005756 Gastritis Zinc 5.5217241300
MESH:D006130 Growth Disorders Zinc 4.1917217573
MESH:D006258 Head and Neck Neoplasms decitabine 3.7419215824
MESH:D006333 Heart Failure Zinc 3.8317162251
MESH:D006335 Heart Injuries Zinc 6.4917074742
MESH:D016481 Helicobacter Infections Zinc 5.0017241300
MESH:D006527 Hepatolenticular Degeneration Zinc 5.2517276780
MESH:D007248 Infertility, Male decitabine 3.4517581917
MESH:D007511 Ischemia Zinc 5.1916584753
MESH:D007674 Kidney Diseases Zinc 3.5216960431
MESH:D007676 Kidney Failure, Chronic Zinc 4.8516518626
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 3.3216705839
MESH:D007805 Language Development Disorders marker/mechanism 17173049 16284256
MESH:D007938 Leukemia decitabine 3.2419235587 18980019
MESH:D007951 Leukemia, Myeloid decitabine 4.4317236224 19117987 18454857
MESH:D015470 Leukemia, Myeloid, Acute decitabine 2.4318460780 19387464 17679729 18704418 19010910 18206229
MESH:D015477 Leukemia, Myelomonocytic, Chronic decitabine 6.1918055864
MESH:D008106 Liver Cirrhosis, Experimental Methionine 3.5015158331
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 2.277678174
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 2.776135515 2876786 2876784
MESH:D008223 Lymphoma decitabine 3.6919470736
MESH:D008325 Mammary Neoplasms, Experimental Zinc 3.5312773700
MESH:D008545 Melanoma decitabine 2.2816505122 17785578
MESH:D008607 Mental Retardation marker/mechanism 16284256
MESH:D009101 Multiple Myeloma decitabine 3.6218172295
MESH:D009190 Myelodysplastic Syndromes decitabine 3.5818608210 16882708 19157545 19010910
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.497678174 18551238
MESH:D009369 Neoplasms decitabine 2.8719470736 17925555 19116145
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.8316049721
MESH:D010051 Ovarian Neoplasms decitabine 2.7419331143 19259094
MESH:D010190 Pancreatic Neoplasms decitabine 2.8719294695
MESH:D011225 Pre-Eclampsia Zinc 4.4817114810
MESH:D055728 Primary Myelofibrosis decitabine 5.2917616702
MESH:D011471 Prostatic Neoplasms Zinc 3.7612429649 16606632 16517595 16700911
MESH:D012162 Retinal Degeneration Zinc 4.4216584753
MESH:D012208 Rhabdomyosarcoma decitabine 4.8719155313
MESH:D012559 Schizophrenia Methionine 3.7115737665
MESH:D012640 Seizures 2,6-dinitrotoluene 2.7918551238
MESH:D013274 Stomach Neoplasms decitabine 2.1019037991
MESH:C536801 Telomeric 22q13 monosomy syndrome marker/mechanism 16284256
MESH:D013964 Thyroid Neoplasms decitabine 3.6317967635
MESH:D014062 Tongue Neoplasms Zinc 4.7916543248
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 5.5916049721
MESH:D001749 Urinary Bladder Neoplasms decitabine 5.5919087683 17616700
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.9510091137
MESH:D014604 Uveal Neoplasms decitabine 5.6417785578
Pathway ID Pathway Name
KEGG:04724 Glutamatergic synapse
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA37866
    • No data
    Releated disease ID Related disease Name
    PA447198Autistic Disorder
    PA447216Schizophrenia
    PA153906318Autism Spectrum Disorder
    No data
    Drug Bank Top

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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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