AutismKB 2.0

Annotation Details for BEND3


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Basic Information Top
Gene Symbol:BEND3 ( KIAA1553,RP11-59I9.2 )
Gene Full Name: BEN domain containing 3
Band: 6q21
Quick LinksEntrez ID:57673; OMIM: NA; Uniprot ID:BEND3_HUMAN; ENSEMBL ID: ENSG00000178409; HGNC ID: 23040
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005654IDA-nucleoplasm-
GO:0005720IDA-nuclear heterochromatin21914818
GO:0005730IDA-nucleolus26100909
GO ID Evidence Qualifier GO_term References
GO:0000182IDA-rDNA binding26100909
GO:0005515IPI-protein binding21914818
GO ID Evidence Qualifier GO_term References
GO:0000122IDA-negative regulation of transcription from RNA polymerase II promoter21914818
GO:0000183IMP-chromatin silencing at rDNA26100909
GO:0006306IMP-DNA methylation26100909
GO:0006351IEA-transcription, DNA-templated-
GO:0034773IDA-histone H4-K20 trimethylation26100909
GO:0036124IDA-histone H3-K9 trimethylation26100909
GO:0043967IDA-histone H4 acetylation26100909
GO:0080182IMP-histone H3-K4 trimethylation26100909
GO:0098532IDA-histone H3-K27 trimethylation26100909
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
BEND3USP2112170419615732 Affinity Capture-MS
BEND3USP2111795019615732 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2677212
  • Data Attributes: MGI curated and HomoloGene calculated
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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