AutismKB 2.0

Annotation Details for CSRNP2


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Basic Information Top
Gene Symbol:CSRNP2 ( C12orf2,C12orf22,FAM130A1,FLJ25576,TAIP-12 )
Gene Full Name: cysteine-serine-rich nuclear protein 2
Band: 12q13.12
Quick LinksEntrez ID:81566; OMIM: NA; Uniprot ID:CSRN2_HUMAN; ENSEMBL ID: ENSG00000110925; HGNC ID: 16006
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IDA-nucleus19389623
GO:0005634ISS-nucleus17726538
GO ID Evidence Qualifier GO_term References
GO:0001228IEA-transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding-
GO:0003700ISS-transcription factor activity, sequence-specific DNA binding17726538
GO:0005515IPI-protein binding15231748
GO:0019902IDA-phosphatase binding19389623
GO:0043565IEA-sequence-specific DNA binding-
GO ID Evidence Qualifier GO_term References
GO:0006366IEA-transcription from RNA polymerase II promoter-
GO:0006915IEA-apoptotic process-
GO:0010923IDA-negative regulation of phosphatase activity19389623
GO:0045944ISS-positive regulation of transcription from RNA polymerase II promoter17726538
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2386852
  • 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