Free for academic non-profit institutions. Other users need a Commercial license

Aliases for SPG20 Gene

Aliases for SPG20 Gene

  • Spastic Paraplegia 20 (Troyer Syndrome) 2 3 5
  • Trans-Activated By Hepatitis C Virus Core Protein 1 3 4
  • Spartin 2 3
  • TAHCCP1 3 4
  • Spastic Paraplegia 20 Protein 4
  • KIAA0610 4

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 Paraplegia. Among its related pathways are Endocytosis and DNA Damage. 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. Participates in cytokinesis (PubMed:20719964).

Gene Wiki entry for SPG20 Gene

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

Genomics for SPG20 Gene

Regulatory Elements for SPG20 Gene

Enhancers for SPG20 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH13G036416 1.4 FANTOM5 Ensembl ENCODE 5.5 -47.7 -47738 2.0 TBP ZEB1 KAT2B GATA2 FOS RELB ETV6 IKZF2 CREM PAF1 SPG20-AS1 SPG20 CCNA1
GH13G036369 0.8 ENCODE dbSUPER 8.2 +0.6 609 1.1 JUND ATF3 POLR2A SCRT2 HNF4A YY1 CCDC169 SPG20 SOHLH2 SPG20-AS1
GH13G036154 1.3 FANTOM5 Ensembl ENCODE dbSUPER 3.1 +215.2 215164 1.8 POLR2A SMARCA4 PRDM4 DCLK1 CCDC169 SOHLH2 SPG20
GH13G036352 0.4 dbSUPER 8.4 +16.3 16332 2.2 ZNF664 SCRT1 CCDC169 SPG20 SOHLH2 SPG20-AS1
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around SPG20 on UCSC Golden Path with GeneCards custom track

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

Genes around SPG20 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SPG20 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 (PubMed:19580544). Interacts (via MIT domain) with IST1; leading to the recruitment of SPG20 to midbodies (PubMed:20719964).
    • 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

Post-translational modifications for SPG20 Gene

  • Ubiquitinated; ubiquitination does not require ITCH and WWP1.
  • Ubiquitination at posLast=2929, Lys47, Lys62, Lys82, Lys362, isoforms=370, Lys440, posLast=447447, posLast=475475, Lys481, Lys489, isoforms=507, and isoforms=578
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for SPG20 (SPG20)
  • Abcam antibodies for SPG20
  • Santa Cruz Biotechnology (SCBT) Antibodies for SPG20

No data available for DME Specific Peptides for SPG20 Gene

Domains & Families for SPG20 Gene

Protein Domains for SPG20 Gene


Suggested Antigen Peptide Sequences for SPG20 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with SPG20: view

No data available for Gene Families and UniProtKB/Swiss-Prot 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. Participates in cytokinesis (PubMed:20719964).

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

Human Phenotype Ontology for SPG20 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

Localization for SPG20 Gene

Subcellular locations from UniProtKB/Swiss-Prot for SPG20 Gene

Cytoplasm. Midbody. Note=Transiently associated with endosomes (PubMed:19580544). Colocalized with IST1 to the ends of Flemming bodies during cytokinesis (PubMed:20719964). {ECO:0000269 PubMed:19580544, ECO:0000269 PubMed:20719964}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SPG20 gene
Compartment Confidence
plasma membrane 5
mitochondrion 5
nucleus 5
cytosol 5
cytoskeleton 2
endosome 1

Gene Ontology (GO) - Cellular Components for SPG20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA,IEA 19580544
GO:0005741 mitochondrial outer membrane IDA 21559443
GO:0005811 lipid particle IEA --
GO:0005829 cytosol IDA --
genes like me logo Genes that share ontologies with SPG20: view

Pathways & Interactions for SPG20 Gene

SuperPathways for SPG20 Gene

SuperPathway Contained pathways
1 Endocytosis
2 DNA Damage
genes like me logo Genes that share pathways with SPG20: view

Pathways by source for SPG20 Gene

1 Cell Signaling Technology pathway for SPG20 Gene
1 KEGG pathway for SPG20 Gene

Gene Ontology (GO) - Biological Process for SPG20 Gene

GO ID Qualified GO term Evidence PubMed IDs
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 --
GO:0050905 neuromuscular process IEA --
genes like me logo Genes that share ontologies with SPG20: view

No data available for SIGNOR curated interactions for SPG20 Gene

Drugs & Compounds for SPG20 Gene

No Compound Related Data Available

Transcripts for SPG20 Gene

Unigene Clusters for SPG20 Gene

Spastic paraplegia 20 (Troyer syndrome):
Representative Sequences:

CRISPR Products

Inhibitory RNA 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for SPG20 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for SPG20 Gene

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

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for SPG20 Gene

Protein tissue co-expression partners for SPG20 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of SPG20 Gene:


SOURCE GeneReport for Unigene cluster for SPG20 Gene:


mRNA Expression by UniProt/SwissProt for SPG20 Gene:

Tissue specificity: Ubiquitously expressed, with highest levels of expression detected in adipose tissue.

Evidence on tissue expression from TISSUES for SPG20 Gene

  • Nervous system(4.9)
  • Eye(2.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for SPG20 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • cheek
  • eye
  • face
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • salivary gland
  • skull
  • lung
  • rib
  • rib cage
  • pelvis
  • ankle
  • arm
  • digit
  • finger
  • foot
  • hand
  • knee
  • lower limb
  • toe
  • upper limb
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with SPG20: view

Primer 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
(Pan troglodytes)
Mammalia SPG20 34 35
  • 99.3 (n)
(Canis familiaris)
Mammalia SPG20 34 35
  • 90.58 (n)
(Bos Taurus)
Mammalia SPG20 34 35
  • 87.89 (n)
(Mus musculus)
Mammalia Spg20 35
  • 85 (a)
(Rattus norvegicus)
Mammalia Spg20 34
  • 82.47 (n)
(Ornithorhynchus anatinus)
Mammalia SPG20 35
  • 66 (a)
(Monodelphis domestica)
Mammalia SPG20 35
  • 64 (a)
(Gallus gallus)
Aves SPG20 34 35
  • 68.38 (n)
(Anolis carolinensis)
Reptilia SPG20 35
  • 62 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia spg20 34
  • 65.37 (n)
(Danio rerio)
Actinopterygii spg20b 35
  • 57 (a)
spg20a 34
  • 55.29 (n)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2655 34
fruit fly
(Drosophila melanogaster)
Insecta CG12001 35
  • 25 (a)
(Caenorhabditis elegans)
Secernentea F57B10.9 34 35
  • 43.21 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 37 (a)
Species where no ortholog for SPG20 was found in the sources mined by GeneCards:
  • 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
rs730882198 Likely pathogenic 36,314,259(-) AGCTA(-/A)CAGGA nc-transcript-variant, reference, frameshift-variant
rs1054141 Likely benign 36,303,841(-) AAAAA(A/G)ACTTG nc-transcript-variant, utr-variant-3-prime
rs1054144 Likely benign 36,303,757(-) ATGGT(C/T)TCTTT nc-transcript-variant, utr-variant-3-prime
rs1054152 Likely benign 36,303,519(-) CTAAT(A/G)GTAAA nc-transcript-variant, utr-variant-3-prime
rs148399669 Likely benign 36,335,756(+) ACAAA(C/T)AAAAA nc-transcript-variant, reference, synonymous-codon

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

Variant ID Type Subtype PubMed ID
esv3631781 CNV loss 21293372
nsv478516 CNV novel sequence insertion 20440878

Variation tolerance for SPG20 Gene

Residual Variation Intolerance Score: 49.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.82; 34.30% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for SPG20 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for SPG20 Gene

MalaCards: The human disease database

(4) MalaCards diseases for SPG20 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
troyer syndrome
  • spastic paraplegia 20, autosomal recessive
  • paraplegia, lower
hereditary spastic paraplegia
  • familial spastic paraplegia
spastic paraplegia 33, autosomal dominant
  • hereditary spastic paraplegia 33
- elite association - COSMIC cancer census association via MalaCards
Search SPG20 in MalaCards View complete list of genes associated with diseases


  • 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.

Relevant External Links for SPG20

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
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 22 64
  2. 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 22 64
  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 22 46 64
  4. 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 22 64
  5. SPG20 protein spartin is recruited to midbodies by ESCRT-III protein Ist1 and participates in cytokinesis. (PMID: 20719964) RenvoisAc B. … Blackstone C. (Mol. Biol. Cell 2010) 3 4 64

Products for SPG20 Gene

Sources for SPG20 Gene

Loading form....