AutismKB 2.0

Annotation Detail for ITSN2


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Basic Information Top
Gene Symbol:ITSN2 ( KIAA1256,PRO2015,SH3D1B,SH3P18,SWA,SWAP )
Gene Full Name: intersectin 2
Band: 2p23.3
Quick LinksEntrez ID:50618; OMIM: 604464; Uniprot ID:ITSN2_HUMAN; ENSEMBL ID: ENSG00000198399; HGNC ID: 6184
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
210Phosphoserine.
553Phosphotyrosine.
859Phosphotyrosine.
882Phosphothreonine.
884Phosphoserine.
889Phosphoserine.
968Phosphotyrosine.
Location(AA) Modifications Resource
209Phosphoserine (By similarity).Swiss-Prot 53.0
552Phosphotyrosine.Swiss-Prot 53.0
552PhosphotyrosinePhospho.ELM 6.0
858Phosphotyrosine.Swiss-Prot 53.0
967Phosphotyrosine.Swiss-Prot 53.0
967PhosphotyrosinePhospho.ELM 6.0
Location(AA) Modification Resource
38Phosphotyrosine(INSR)HMM predict
109Phosphoserine(CDC2)HMM predict
138O-linkedHMM predict
140O-linkedHMM predict
143O-linkedHMM predict
143O-linkedHMM predict
144Phosphoserine(CK1)HMM predict
162O-linkedHMM predict
164Phosphoserine(CDC2)HMM predict
164O-linkedHMM predict
168N-linkedHMM predict
183O-linkedHMM predict
184O-linkedHMM predict
219O-linkedHMM predict
220Phosphoserine(CK2)HMM predict
220Phosphoserine(CK1)HMM predict
222O-linkedHMM predict
224O-linkedHMM predict
224Phosphoserine(IKK)HMM predict
226Phosphoserine(ATM)HMM predict
235O-linkedHMM predict
275N-linkedHMM predict
277Phosphoserine(CK1)HMM predict
277Phosphoserine(ATM)HMM predict
340N-linkedHMM predict
653Phosphotyrosine(Syk)HMM predict
754Phosphothreonine(PKA)HMM predict
817PhosphoserineHMM predict
825Phosphoserine(CDK)HMM predict
825Phosphoserine(CDC2)HMM predict
825PhosphoserineHMM predict
836O-linkedHMM predict
840O-linkedHMM predict
841O-linkedHMM predict
842O-linkedHMM predict
842Phosphothreonine(CK2)HMM predict
844O-linkedHMM predict
858Phosphotyrosine(Syk)HMM predict
860N-linkedHMM predict
865N-linkedHMM predict
869N-linkedHMM predict
883Phosphoserine(CAMK2)HMM predict
917N-linkedHMM predict
975Phosphothreonine(PKC)HMM predict
985Phosphotyrosine(INSR)HMM predict
985Phosphotyrosine(EGFR)HMM predict
1043Phosphoserine(CDK)HMM predict
1047Phosphoserine(IKK)HMM predict
1061O-linkedHMM predict
1085N-linkedHMM predict
1122O-linkedHMM predict
1122Phosphothreonine(PKA)HMM predict
1148Phosphoserine(CK1)HMM predict
1189Phosphoserine(ATM)HMM predict
1276Phosphothreonine(PKC)HMM predict
1367Phosphothreonine(CDC2)HMM predict
1389Phosphoserine(ATM)HMM predict
1470Phosphoserine(CK2)HMM predict
1478Phosphoserine(CK1)HMM predict
1545SulfotyrosineHMM predict
1545Phosphotyrosine(Syk)HMM predict
1599Phosphoserine(ATM)HMM predict
1659Phosphothreonine(PKC)HMM predict
1685PhenylalanineHMM predict
1687PhenylalanineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_006277
  • Location:chr2 24279238-24436880
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 24277982 24278272 290 1112
No data
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
14024 mRNA chr2 24494404 24497425 205 mRNA ITSN2 chr2 24337385 24495028Sense/Antisense (SA) pairs

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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