AutismKB 2.0

Annotation Detail for PTBP2


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Basic Information Top
Gene Symbol:PTBP2 ( FLJ34897,PTB,PTBLP,brPTB,nPTB,nPTB5,nPTB6,nPTB7,nPTB8 )
Gene Full Name: polypyrimidine tract binding protein 2
Band: 1p21.3
Quick LinksEntrez ID:58155; OMIM: 608449; Uniprot ID:PTBP2_HUMAN; ENSEMBL ID: ENSG00000117569; HGNC ID: 17662
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1N-acetylmethionine.
27Phosphoserine (By similarity).
308Phosphoserine (By similarity).
Location(AA) Modifications Resource
27Phosphoserine (By similarity).Swiss-Prot 53.0
308Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
23Phosphoserine(IKK)HMM predict
27Phosphoserine(CDC2)HMM predict
27Phosphoserine(IKK)HMM predict
27Phosphoserine(CDK)HMM predict
30Phosphoserine(IKK)HMM predict
33O-linkedHMM predict
127Phosphotyrosine(Jak)HMM predict
161Phosphothreonine(MAPK)HMM predict
164O-linkedHMM predict
169O-linkedHMM predict
174O-linkedHMM predict
174Phosphothreonine(MAPK)HMM predict
272Phosphotyrosine(INSR)HMM predict
308Phosphoserine(CDC2)HMM predict
388Phosphoserine(ATM)HMM predict
434Phosphoserine(CDC2)HMM predict
514Phosphotyrosine(INSR)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_021190
  • Location:chr1 96959965-97052933
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 96946214 96946275 61 13721
PHF8 Hs68plusFBSGSE20725 96959158 96960631 1473 71
hScc1 BcellGSE12603 96959642 96960047 405 121
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 96959642 96960413 771 0
H3K4me3 colorectalcancer 96960689 96961885 1196 0
H3ac HepG2E 96960348 96961920 1572 0
Oct1 H2O2-HelaGSE14283 96978167 96978215 48 0
Oct1 HelaGSE14283 96978166 96978215 49 0
Rb GrowingGSE19898 96960742 96960874 132 0
TAF k562GSE8489 96960725 96961990 1265 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7b hsa-let-7b 22 18668040
hsa-let-7b* hsa-let-7b 22 18668040
hsa-miR-1 hsa-mir-1-2 18 18668040
hsa-miR-1 hsa-mir-1-1 20 18668040
hsa-miR-124 hsa-mir-124-1 8 21062284
hsa-miR-124 hsa-mir-124-2 8 21062284
hsa-miR-124 hsa-mir-124-3 20 21062284
hsa-miR-124 hsa-mir-124-1 8 17679093
hsa-miR-124 hsa-mir-124-2 8 17679093
hsa-miR-124 hsa-mir-124-3 20 17679093
hsa-miR-124* hsa-mir-124-1 8 21062284
hsa-miR-133a hsa-mir-133a-1 18 20520763
hsa-miR-133a hsa-mir-133a-2 20 20520763
hsa-miR-133a hsa-mir-133a-1 18 17210790
hsa-miR-133a hsa-mir-133a-2 20 17210790
hsa-miR-133b hsa-mir-133b 6 17210790
hsa-miR-146a hsa-mir-146a 5 20520763
hsa-miR-146a* hsa-mir-146a 5 20520763
hsa-miR-146b-3p hsa-mir-146b 10 20520763
hsa-miR-146b-5p hsa-mir-146b 10 20520763
hsa-miR-155 hsa-mir-155 21 18668040
hsa-miR-155* hsa-mir-155 21 18668040
hsa-miR-16 hsa-mir-16-1 13 18668040
hsa-miR-16 hsa-mir-16-2 3 18668040
hsa-miR-206 hsa-mir-206 6 17210790
hsa-miR-30a hsa-mir-30a 6 18668040
hsa-miR-30a* hsa-mir-30a 6 18668040
hsa-miR-30b hsa-mir-30b 8 18668040
hsa-miR-30b* hsa-mir-30b 8 18668040
hsa-miR-30c hsa-mir-30c-2 6 18668040
hsa-miR-30c hsa-mir-30c-1 1 18668040
hsa-miR-30c-1* hsa-mir-30c-1 1 18668040
hsa-miR-30c-2* hsa-mir-30c-2 6 18668040
hsa-miR-30d hsa-mir-30d 8 18668040
hsa-miR-30d* hsa-mir-30d 8 18668040
hsa-miR-30e hsa-mir-30e 1 18668040
hsa-miR-30e* hsa-mir-30e 1 18668040
ID in Tarbase Data Type Support Type miRNA Gene Direct Support Publication
449 mRNA repression TRUE miR-133 PTBP2 in vitro reporter gene assay (Luciferase) AND immunoblotting 17210790
1186 Unknown pSILAC miR-1 PTBP2 down 50-25% 18668040
Ensembl Protein Type Differentially expressed in Pathology or Event Mis Regulation Gene Expression Tumour Involvement
ENSG00000117569 "cardiac and skeletal muscles, cardiogenesis" n_a n_a "lymphoblast, lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
ENSG00000117569 n_a n_a n_a "lymphoblast, lymphocyte, muscle cell" "benign tumour, malignant tumour, carcinoma, leukaemia, sarcoma"
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