AutismKB 2.0

Annotation Details for CREB3L2


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Basic Information Top
Gene Symbol:CREB3L2 ( BBF2H7,MGC131709,MGC71006 )
Gene Full Name: cAMP responsive element binding protein 3-like 2
Band: 7q33
Quick LinksEntrez ID:64764; OMIM: 608834; Uniprot ID:CR3L2_HUMAN; ENSEMBL ID: ENSG00000182158; HGNC ID: 23720
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005634IDA-nucleus17178827
GO:0005654IDA-nucleoplasm-
GO:0005783IDA-endoplasmic reticulum17178827
GO:0005789IEA-endoplasmic reticulum membrane-
GO:0016021IEA-integral component of membrane-
GO ID Evidence Qualifier GO_term References
GO:0000978IEA-RNA polymerase II core promoter proximal region sequence-specific DNA binding-
GO:0001077IEA-transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding-
GO:0035497IMP-cAMP response element binding17178827
GO:0044212IMP-transcription regulatory region DNA binding17178827
GO ID Evidence Qualifier GO_term References
GO:0002062ISS-chondrocyte differentiation-
GO:0006366IEA-transcription from RNA polymerase II promoter-
GO:0006888IEA-ER to Golgi vesicle-mediated transport-
GO:0030968IEA-endoplasmic reticulum unfolded protein response-
GO:0034976IEP-response to endoplasmic reticulum stress17178827
GO:0045893IDA-positive regulation of transcription, DNA-templated17178827
GO:0045944IEA-positive regulation of transcription from RNA polymerase II promoter-
GO:0051216ISS-cartilage development-
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2442695
  • Data Attributes: HomoloGene calculated
No data
No data

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  (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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