AutismKB 2.0

Annotation Detail for TFAP2B


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:TFAP2B ( AP-2B,AP2-B,MGC21381 )
Gene Full Name: transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
Band: 6p12.3
Quick LinksEntrez ID:7021; OMIM: 601601; Uniprot ID:AP2B_HUMAN; ENSEMBL ID: ENSG00000008196; HGNC ID: 11743
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
No data
Desease Name
personality traits
PSYCH
anxiety disorder
METABOLIC
adiposity
REPRODUCTION
diabetes, type 2
patent ductus arteriosus
Insulin Resistance
Desease Name
Body mass index
Adiposity
Desease Name
Char syndrome
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D008345 Manganese Manganese results in increased expression of TFAP2B mRNAincreases expression 17175027
C025340 manganese chloride manganese chloride results in increased expression of TFAP2B mRNAincreases expression 17175027
C025462 sulindac sulfide sulindac sulfide results in increased expression of TFAP2B mRNAincreases expression 16184548
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000544 Alzheimer Disease sulindac sulfide 3.1618759972
MESH:D000756 Anemia, Sideroblastic Manganese 12.6916910769
MESH:D000756 Anemia, Sideroblastic manganese chloride 12.6916910769
MESH:D002289 Carcinoma, Non-Small-Cell Lung sulindac sulfide 3.5612391285
MESH:C538076 Char syndrome marker/mechanism 10802654
MESH:D019465 Craniofacial Abnormalities marker/mechanism 10802654
MESH:D005909 Glioblastoma Manganese 4.1817043766
MESH:D006228 Hand Deformities, Congenital marker/mechanism 10802654
MESH:D020149 Manganese Poisoning Manganese 6.3916568477 16551646 19453300
MESH:D009069 Movement Disorders Manganese 5.5416551646
MESH:D009410 Nerve Degeneration Manganese 4.6216551646
MESH:D010300 Parkinson Disease Manganese 3.5011181820
MESH:D020734 Parkinsonian Disorders Manganese 4.9216140633
MESH:D014594 Uterine Neoplasms sulindac sulfide 5.2418645019
No data
Pharmacogenomics Knowledge Base Top
Drug Bank Top

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