AutismKB 2.0

Annotation Detail for ITGB1BP3


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ITGB1BP3 ( MGC126624,MIBP,NRK2 )
Gene Full Name: integrin beta 1 binding protein 3
Band: 19p13.3
Quick LinksEntrez ID:27231; OMIM: 608705; Uniprot ID:NRK2_HUMAN; ENSEMBL ID: ENSG00000077009; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
75Phosphoserine(CDC2)HMM predict
135N-linkedHMM predict
136Phosphotyrosine(INSR)HMM predict
193N-linkedHMM predict
195Phosphoserine(ATM)HMM predict
198Phosphoserine(IKK)HMM predict
201O-linkedHMM predict
201Phosphoserine(CDC2)HMM predict
201Phosphoserine(CDK)HMM predict
215S-farnesylHMM predict
225Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
Validated miRNA targets Top
Cis-Nats regulation 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