AutismKB 2.0

Annotation Details for SPG21


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Basic Information Top
Gene Symbol:SPG21 ( ACP33,GL010,MASPARDIN,MAST )
Gene Full Name: spastic paraplegia 21 (autosomal recessive, Mast syndrome)
Band: 15q22.31
Quick LinksEntrez ID:51324; OMIM: 608181; Uniprot ID:SPG21_HUMAN; ENSEMBL ID: ENSG00000090487; HGNC ID: 20373
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005829IDA-cytosol11113139
GO:0010008IEA-endosome membrane-
GO:0030140IDA-trans-Golgi network transport vesicle11113139
GO:0043231IDA-intracellular membrane-bounded organelle-
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding16189514
GO:0042609IPI-CD4 receptor binding11113139
GO ID Evidence Qualifier GO_term References
GO:0050851IC-antigen receptor-mediated signaling pathway11113139
Protein-Protein Interaction Top
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:106403
  • 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