AutismKB 2.0

Annotation Details for FRMPD2


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Basic Information Top
Gene Symbol:FRMPD2 ( MGC178184,MGC178187,MGC35285,MGC87776,MGC87777,MGC90186,PDZD5C,PDZK4,PDZK5C )
Gene Full Name: FERM and PDZ domain containing 2
Band: 10q11.22
Quick LinksEntrez ID:143162; OMIM: 613323; Uniprot ID:FRPD2_HUMAN; ENSEMBL ID: ENSG00000170324; HGNC ID: 28572
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005737IEA-cytoplasm-
GO:0005856IEA-cytoskeleton-
GO:0005923IDA-bicellular tight junction19706687
GO:0016323IDA-basolateral plasma membrane19706687
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding19706687
GO:0005545IDA-1-phosphatidylinositol binding19706687
GO ID Evidence Qualifier GO_term References
GO:0070830IMP-bicellular tight junction assembly19706687
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2685472
  • Data Attributes: 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


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