AutismKB 2.0

Annotation Details for FAM21C


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Basic Information Top
Gene Symbol:FAM21C ( FAM21A,KIAA0592,VPEF )
Gene Full Name: family with sequence similarity 21, member C
Band: 10q11.1
Quick LinksEntrez ID:253725; OMIM: NA; Uniprot ID:A8K5W5_HUMAN; ENSEMBL ID: ENSG00000172661; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005730IDA-nucleolus-
GO:0005768IDA-endosome20923837
GO:0005769IDA-early endosome19922874
GO:0005829IDA-cytosol-
GO:0005886IEA-plasma membrane-
GO:0030904IDAcolocalizes_withretromer complex23331060
GO:0031901IEA-early endosome membrane-
GO:0043231IDA-intracellular membrane-bounded organelle-
GO:0071203IDA-WASH complex19922875
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding19922874
GO:0005546IDA-phosphatidylinositol-4,5-bisphosphate binding20498093
GO:0005547IDA-phosphatidylinositol-3,4,5-trisphosphate binding20498093
GO:0010314IDA-phosphatidylinositol-5-phosphate binding20498093
GO:0032266IDA-phosphatidylinositol-3-phosphate binding20498093
GO:0043325IDA-phosphatidylinositol-3,4-bisphosphate binding20498093
GO:0070273IDA-phosphatidylinositol-4-phosphate binding20498093
GO:0080025IDA-phosphatidylinositol-3,5-bisphosphate binding20498093
GO:1905394IMP-retromer complex binding27385586
GO ID Evidence Qualifier GO_term References
GO:0015031IEA-protein transport-
GO:0042147IMP-retrograde transport, endosome to Golgi19922874
GO:1900024IDA-regulation of substrate adhesion-dependent cell spreading22070227
GO:1990126IMP-retrograde transport, endosome to plasma membrane25278552
GO:2000813IDA-negative regulation of barbed-end actin filament capping20498093
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
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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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