AutismKB 2.0

Annotation Detail for PRRT2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:PRRT2 ( DKFZp547J199,FLJ25513,IFITMD1 )
Gene Full Name: proline-rich transmembrane protein 2
Band: 16p11.2
Quick LinksEntrez ID:112476; OMIM: NA; Uniprot ID:PRRT2_HUMAN; ENSEMBL ID: ENSG00000167371; HGNC ID: 30500
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
53N-linked (GlcNAc...) (Potential).
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_145239
  • Location:chr16 29731019-29734602
  • strand:+
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 29730900 29731309 409 0
CTCF G2GSE9613 29731890 29732652 762 0
LIN9 G0GSE7516 29734317 29734867 550 0
Rb QuiescentGSE19898 29731025 29731397 372 0
Rb SenescentGSE19898 29730799 29731256 457 0
p130 QuiescentGSE19898 29734352 29734650 298 0
p130 shRbSenescentGSE19898 29730988 29731187 199 0
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