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Aliases for SPG20 Gene

Aliases for SPG20 Gene

  • Spastic Paraplegia 20 (Troyer Syndrome) 2 3
  • Trans-Activated By Hepatitis C Virus Core Protein 1 3 4
  • TAHCCP1 3 4
  • Spastic Paraplegia 20 Protein 4
  • KIAA0610 4
  • Spartin 2

External Ids for SPG20 Gene

Previous GeneCards Identifiers for SPG20 Gene

  • GC13M030863
  • GC13M035813
  • GC13M034675
  • GC13M034673
  • GC13M035773
  • GC13M036875
  • GC13M017687

Summaries for SPG20 Gene

Entrez Gene Summary for SPG20 Gene

  • This gene encodes a protein containing a MIT (Microtubule Interacting and Trafficking molecule) domain, and is implicated in regulating endosomal trafficking and mitochondria function. The protein localizes to mitochondria and partially co-localizes with microtubules. Stimulation with epidermal growth factor (EGF) results in protein translocation to the plasma membrane, and the protein functions in the degradation and intracellular trafficking of EGF receptor. Multiple alternatively spliced variants, encoding the same protein, have been identified. Mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome). [provided by RefSeq, Nov 2008]

GeneCards Summary for SPG20 Gene

SPG20 (Spastic Paraplegia 20 (Troyer Syndrome)) is a Protein Coding gene. Diseases associated with SPG20 include troyer syndrome and hepatitis c. GO annotations related to this gene include ubiquitin protein ligase binding.

UniProtKB/Swiss-Prot for SPG20 Gene

  • May be implicated in endosomal trafficking, or microtubule dynamics, or both

Gene Wiki entry for SPG20 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SPG20 Gene

Genomics for SPG20 Gene

Regulatory Elements for SPG20 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for SPG20 Gene

36,301,638 bp from pter
36,370,180 bp from pter
68,543 bases
Minus strand

Genomic View for SPG20 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SPG20 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SPG20 Gene

Proteins for SPG20 Gene

  • Protein details for SPG20 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • O60349
    • Q86Y67
    • Q9H1T2
    • Q9H1T3

    Protein attributes for SPG20 Gene

    666 amino acids
    Molecular mass:
    72833 Da
    Quaternary structure:
    • Interacts with ITCH and WWP1.
    • Sequence=BAA25536.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAC17479.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for SPG20 Gene

neXtProt entry for SPG20 Gene

Proteomics data for SPG20 Gene at MOPED

Post-translational modifications for SPG20 Gene

  • Ubiquitinated; ubiquitination does not require ITCH and WWP1.
  • Ubiquitination at Lys29, Lys47, Lys62, Lys82, Lys362, Lys370, Lys377, Lys440, Lys447, Lys465, Lys475, Lys481, Lys489, Lys507, and Lys578
  • Modification sites at PhosphoSitePlus

Other Protein References for SPG20 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SPG20 (SPG20)

No data available for DME Specific Peptides for SPG20 Gene

Domains for SPG20 Gene

Protein Domains for SPG20 Gene


Suggested Antigen Peptide Sequences for SPG20 Gene

Graphical View of Domain Structure for InterPro Entry



  • Q8N0X7
  • Contains 1 MIT domain.
genes like me logo Genes that share domains with SPG20: view

No data available for Gene Families for SPG20 Gene

Function for SPG20 Gene

Molecular function for SPG20 Gene

UniProtKB/Swiss-Prot Function:
May be implicated in endosomal trafficking, or microtubule dynamics, or both

Gene Ontology (GO) - Molecular Function for SPG20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 20719964
GO:0031625 ubiquitin protein ligase binding IPI 19580544
genes like me logo Genes that share ontologies with SPG20: view
genes like me logo Genes that share phenotypes with SPG20: view

Animal Models for SPG20 Gene

MGI Knock Outs for SPG20:

Animal Model Products

miRNA for SPG20 Gene

miRTarBase miRNAs that target SPG20

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SPG20

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for SPG20 Gene

Localization for SPG20 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPG20 Gene

Cytoplasm. Note=Transiently associated with endosomes.

Subcellular locations from

Jensen Localization Image for SPG20 Gene COMPARTMENTS Subcellular localization image for SPG20 gene
Compartment Confidence
mitochondrion 5
cytosol 2
nucleus 2
cytoskeleton 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for SPG20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA --
GO:0005741 mitochondrial outer membrane IDA 21559443
GO:0005811 lipid particle IEA --
GO:0005886 plasma membrane IDA --
GO:0030496 midbody IDA 20719964
genes like me logo Genes that share ontologies with SPG20: view

Pathways for SPG20 Gene

SuperPathways for SPG20 Gene

No Data Available

Gene Ontology (GO) - Biological Process for SPG20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008219 cell death --
GO:0009838 abscission IMP 20719964
GO:0030514 negative regulation of BMP signaling pathway IEA --
GO:0034389 lipid particle organization IEA --
GO:0048698 negative regulation of collateral sprouting in absence of injury IEA --
genes like me logo Genes that share ontologies with SPG20: view

No data available for Pathways by source for SPG20 Gene

Transcripts for SPG20 Gene

Unigene Clusters for SPG20 Gene

Spastic paraplegia 20 (Troyer syndrome):
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for SPG20

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for SPG20 Gene

ExUns: 1a · 1b ^ 2a · 2b · 2c · 2d ^ 3a · 3b ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c · 6d · 6e · 6f · 6g ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11a ·
SP1: - - - - - - - - - - - - -
SP2: - - - - - - -
SP3: - - -
SP4: -
SP5: - - - -
SP7: - - - - - - - - -
SP8: - - - - -
SP9: -
SP10: - - - - - -
SP11: - - - - -
SP12: - -
SP13: -

ExUns: 11b ^ 12 ^ 13 ^ 14 ^ 15a · 15b · 15c
SP1: -
SP2: -
SP3: -
SP4: -

Relevant External Links for SPG20 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for SPG20 Gene

mRNA expression in normal human tissues for SPG20 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues for SPG20 Gene

This gene is overexpressed in Breast (10.4) and Peripheral blood mononuclear cells (8.9).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for SPG20 Gene

SOURCE GeneReport for Unigene cluster for SPG20 Gene Hs.440414

mRNA Expression by UniProt/SwissProt for SPG20 Gene

Tissue specificity: Ubiquitously expressed, with highest levels of expression detected in adipose tissue
genes like me logo Genes that share expressions with SPG20: view

Expression partners for SPG20 Gene

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for SPG20 Gene

Orthologs for SPG20 Gene

This gene was present in the common ancestor of animals.

Orthologs for SPG20 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia SPG20 35
  • 87.89 (n)
  • 88.29 (a)
SPG20 36
  • 88 (a)
(Canis familiaris)
Mammalia SPG20 35
  • 90.58 (n)
  • 91.19 (a)
SPG20 36
  • 90 (a)
(Pan troglodytes)
Mammalia SPG20 35
  • 99.3 (n)
  • 99.7 (a)
SPG20 36
  • 100 (a)
(Rattus norvegicus)
Mammalia Spg20 35
  • 82.47 (n)
  • 86.17 (a)
(Mus musculus)
Mammalia Spg20 16
Spg20 36
  • 85 (a)
(Monodelphis domestica)
Mammalia SPG20 36
  • 64 (a)
(Ornithorhynchus anatinus)
Mammalia SPG20 36
  • 66 (a)
(Gallus gallus)
Aves SPG20 35
  • 68.38 (n)
  • 64.09 (a)
SPG20 36
  • 65 (a)
(Anolis carolinensis)
Reptilia SPG20 36
  • 62 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia spg20 35
  • 65.37 (n)
  • 64.92 (a)
(Danio rerio)
Actinopterygii spg20a 35
  • 55.29 (n)
  • 50.28 (a)
spg20b 36
  • 57 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2655 35
fruit fly
(Drosophila melanogaster)
Insecta CG12001 36
  • 25 (a)
(Caenorhabditis elegans)
Secernentea F57B10.9 35
  • 43.21 (n)
  • 28.45 (a)
F57B10.9 36
  • 24 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 37 (a)
Species with no ortholog for SPG20:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SPG20 Gene

Gene Tree for SPG20 (if available)
Gene Tree for SPG20 (if available)

Paralogs for SPG20 Gene

No data available for Paralogs for SPG20 Gene

Variants for SPG20 Gene

Sequence variations from dbSNP and Humsavar for SPG20 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type MAF
rs755050 -- 36,323,050(+) AGAAA(C/T)CTTAG intron-variant
rs755051 -- 36,323,096(+) CAACC(C/T)TAGGA intron-variant
rs912926 -- 36,326,363(+) TAGTA(A/G)AACAG intron-variant
rs1041137 -- 36,313,917(+) CATCA(A/G)AACAA intron-variant
rs1054141 -- 36,303,841(-) AAAAA(A/G)ACTTG utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for SPG20 Gene

Variant ID Type Subtype PubMed ID
nsv899993 CNV Gain 21882294

Relevant External Links for SPG20 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SPG20 Gene

Disorders for SPG20 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for SPG20 Gene in MalaCards »

(5) Diseases for SPG20 Gene including...

(1) OMIM Diseases for SPG20 Gene (607111)


  • Spastic paraplegia 20, autosomal recessive (SPG20) [MIM:275900]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG20 is characterized by dysarthria, distal amyotrophy, mild developmental delay and short stature. {ECO:0000269 PubMed:12134148}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for SPG20 Gene

(3) Novoseek inferred disease relationships for SPG20 Gene

Disease -log(P) Hits PubMed IDs
troyer syndrome 99.5 22
spastic paraplegia hereditary 95.4 8
spastic paraplegia 78.4 1

Relevant External Links for SPG20

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with SPG20: view

No data available for Genatlas for SPG20 Gene

Publications for SPG20 Gene

  1. SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. (PMID: 12134148) Patel H. … Crosby A.H. (Nat. Genet. 2002) 2 3 4 23
  2. The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia. (PMID: 12676568) Ciccarelli F.D. … Crosby A.H. (Genomics 2003) 3 4 23
  3. The role of hereditary spastic paraplegia related genes in multiple sclerosis. A study of disease susceptibility and clinical outcome. (PMID: 17420921) DeLuca G.C. … Ebers G.C. (J. Neurol. 2007) 3 23 48
  4. Endogenous spartin (SPG20) is recruited to endosomes and lipid droplets and interacts with the ubiquitin E3 ligases AIP4 and AIP5. (PMID: 19580544) Edwards T.L. … Reid E. (Biochem. J. 2009) 3 4 23
  5. The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling. (PMID: 19620182) Tsang H.T. … Reid E. (Hum. Mol. Genet. 2009) 3 23

Products for SPG20 Gene

Sources for SPG20 Gene

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