AutismKB 2.0

Annotation Details for CHMP4A


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Basic Information Top
Gene Symbol:CHMP4A ( C14orf123,CHMP4,CHMP4B,FLJ61658,HSPC134,MGC142093,MGC142095,SNF7,SNF7-1,Shax2,VPS32A )
Gene Full Name: chromatin modifying protein 4A
Band: 14q12
Quick LinksEntrez ID:29082; OMIM: 610051; Uniprot ID:CHM4A_HUMAN; ENSEMBL ID: ENSG00000100931; HGNC ID: 20274
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0000815IDA-ESCRT III complex21975012
GO:0000815TAS-ESCRT III complex20588296
GO:0005634IDA-nucleus21975012
GO:0005737IDA-cytoplasm21975012
GO:0005768IDAcolocalizes_withendosome24878737
GO:0005829TAS-cytosol-
GO:0005886IDAcolocalizes_withplasma membrane24878737
GO:0009898IDA-cytoplasmic side of plasma membrane18209100
GO:0030117IMP-membrane coat24878737
GO:0030496IDA-midbody22724069
GO:0030659IEA-cytoplasmic vesicle membrane-
GO:0031902IEA-late endosome membrane-
GO:0070062IDA-extracellular exosome23376485
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding14505570
GO:0008289IEA-lipid binding-
GO:0042802IMP-identical protein binding18209100
GO:0042803IPI-protein homodimerization activity14519844
GO:0051117IPI-ATPase binding18209100
GO ID Evidence Qualifier GO_term References
GO:0000920IMP-cell separation after cytokinesis20616062
GO:0006620IMP-posttranslational protein targeting to endoplasmic reticulum membrane21975012
GO:0006900IGI-membrane budding18209100
GO:0006900IMP-membrane budding18209100
GO:0006997IMP-nucleus organization20616062
GO:0007034IEA-vacuolar transport-
GO:0007080IMP-mitotic metaphase plate congression20616062
GO:0010324IMP-membrane invagination24878737
GO:0016197TAS-endosomal transport-
GO:0016236TAS-macroautophagy20588296
GO:0019058TAS-viral life cycle-
GO:0036258TAS-multivesicular body assembly20588296
GO:0039702IDA-viral budding via host ESCRT complex24878737
GO:0039702IGI-viral budding via host ESCRT complex24107264
GO:0039702TAS-viral budding via host ESCRT complex20588296
GO:0051258IMP-protein polymerization24878737
GO:0051260IMP-protein homooligomerization18209100
GO:0097320IGI-plasma membrane tubulation18209100
GO:0097320IMP-plasma membrane tubulation18209100
GO:1901215IMP-negative regulation of neuron death21975012
GO:1902902IMP-negative regulation of autophagosome assembly21975012
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
CHMP4ASTAMBP11586317711858 Two-hybrid
CHMP4ASTAMBP11885217711858 Two-hybrid
SYT17CHMP4A11971716189514 Two-hybrid
SYT17CHMP4A11885216189514 Two-hybrid
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top

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