AutismKB 2.0

Annotation Details for SPG20


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Basic Information Top
Gene Symbol:SPG20 ( KIAA0610,SPARTIN,TAHCCP1 )
Gene Full Name: spastic paraplegia 20 (Troyer syndrome)
Band: 13q13.3
Quick LinksEntrez ID:23111; OMIM: 607111; Uniprot ID:SPG20_HUMAN; ENSEMBL ID: ENSG00000133104; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Gene Ontology Top
GO ID Evidence Qualifier GO_term References
GO:0005654IDA-nucleoplasm-
GO:0005737IDA-cytoplasm19580544
GO:0005741IDA-mitochondrial outer membrane21559443
GO:0005811IEA-lipid particle-
GO:0005829IDA-cytosol-
GO:0005886IDA-plasma membrane-
GO:0030496IDA-midbody20719964
GO:0045202IEA-synapse-
GO ID Evidence Qualifier GO_term References
GO:0005515IPI-protein binding20719964
GO:0031625IPI-ubiquitin protein ligase binding19580544
GO ID Evidence Qualifier GO_term References
GO:0009838IMP-abscission20719964
GO:0030514IEA-negative regulation of BMP signaling pathway-
GO:0034389IEA-lipid particle organization-
GO:0048698IEA-negative regulation of collateral sprouting in absence of injury-
GO:0050905IEA-neuromuscular process-
GO:0051301IMP-cell division20719964
GO:0051881IMP-regulation of mitochondrial membrane potential21559443
GO:0060612IEA-adipose tissue development-
Protein-Protein Interaction Top
Gene Symbol Interactant Interaction ID References Description
SPG20TUBA1A11673416945107 FRET
SPG20TUBA1A11360316945107 FRET
ITCHSPG2011673416055720 Affinity Capture-MS
ITCHSPG2012374716055720 Affinity Capture-MS
No data
No data
AlzGene, PDGene and SZGene Top
Animal Model Top
  • MGI ID: MGI:2139806
  • 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