AutismKB 2.0

Annotation Details for CD2AP


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Basic Information Top
Gene Symbol:CD2AP ( CMS,DKFZp586H0519 )
Gene Full Name: CD2-associated protein
Band: 6p12.3
Quick LinksEntrez ID:23607; OMIM: 604241; Uniprot ID:CD2AP_HUMAN; ENSEMBL ID: ENSG00000198087; HGNC ID: 14258
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0001726IDA-ruffle10339567
GO:0005737TAS-cytoplasm10339567
GO:0005886IEA-plasma membrane-
GO:0005911IEA-cell-cell junction-
GO:0015629TAS-actin cytoskeleton10339567
GO:0030139IEA-endocytic vesicle-
GO:0031941IDA-filamentous actin10339567
GO:0048471IEA-perinuclear region of cytoplasm-
GO:0070062IDA-extracellular exosome19056867
GO ID Evidence Qualifier GO_term References
GO:0005172IEA-vascular endothelial growth factor receptor binding-
GO:0005200TAS-structural constituent of cytoskeleton10339567
GO:0005515IPI-protein binding10339567
GO:0008013IEA-beta-catenin binding-
GO:0008022IEA-protein C-terminus binding-
GO:0017124IPI-SH3 domain binding10339567
GO:0032403IEA-protein complex binding-
GO:0045296IDA-cadherin binding25468996
GO ID Evidence Qualifier GO_term References
GO:0006461TAS-protein complex assembly10339567
GO:0006930TAS-substrate-dependent cell migration, cell extension10339567
GO:0007010IEA-cytoskeleton organization-
GO:0007049IEA-cell cycle-
GO:0007165NAS-signal transduction10339567
GO:0016050IEA-vesicle organization-
GO:0016337IEA-single organismal cell-cell adhesion-
GO:0032911IEA-negative regulation of transforming growth factor beta1 production-
GO:0043161IEA-proteasome-mediated ubiquitin-dependent protein catabolic process-
GO:0048259IEA-regulation of receptor-mediated endocytosis-
GO:0051301IEA-cell division-
GO:1900182IEA-positive regulation of protein localization to nucleus-
GO:2000249IEA-regulation of actin cytoskeleton reorganization-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
CD2APCAPZA111714012690097 Reconstituted Complex
CD2APCAPZA110727912690097 Reconstituted Complex
CD2APCBL11714011067845 12559036 15128873 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
CD2APCBL10731511067845 12559036 15128873 Affinity Capture-Western; Reconstituted Complex; Two-hybrid
CD2APCD211714012690097 Reconstituted Complex
CD2APCD210735212690097 Reconstituted Complex
CD2APCDH310743615331416 Affinity Capture-Western
CD2APCDH311714015331416 Affinity Capture-Western
CD2APPTK2B10848015128873 Affinity Capture-Western
CD2APPTK2B11714015128873 Affinity Capture-Western
CD2APNPHS111714015331416 Affinity Capture-Western; Reconstituted Complex
CD2APNPHS111092815331416 Affinity Capture-Western; Reconstituted Complex
CD2APRAB4A11180512559036 Reconstituted Complex; Two-hybrid
CD2APRAB4A11714012559036 Reconstituted Complex; Two-hybrid
CD2APNPHS211714011733557 Affinity Capture-Western; Reconstituted Complex
CD2APNPHS211359011733557 Affinity Capture-Western; Reconstituted Complex
CD2APCASK11714015331416 Reconstituted Complex
CD2APCASK11414115331416 Reconstituted Complex
CD2APBCAR111714010339567 Reconstituted Complex
CD2APBCAR111493410339567 Reconstituted Complex
CD2APCD2AP11714010339567 12559036 Affinity Capture-Western; Reconstituted Complex
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:1330281
  • 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