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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
  • TAHCCP1 3 4
  • Spastic Paraplegia 20 Protein 4
  • KIAA0610 4
  • Spartin 2
  • SPARTIN 3

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 DNA Damage and Endocytosis. 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 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 Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around SPG20 on UCSC Golden Path with GeneCards custom track

Genomic Location for SPG20 Gene

Chromosome:
13
Start:
36,301,638 bp from pter
End:
36,370,180 bp from pter
Size:
68,543 bases
Orientation:
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:
    Q8N0X7-SPG20_HUMAN
    Recommended name:
    Spartin
    Protein Accession:
    Q8N0X7
    Secondary Accessions:
    • O60349
    • Q86Y67
    • Q9H1T2
    • Q9H1T3

    Protein attributes for SPG20 Gene

    Size:
    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 recruitement of SPG20 to midbodies (PubMed:20719964).
    SequenceCaution:
    • 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 Lys 29, Lys 47, Lys 62, Lys 82, Lys 362, Lys 370, Lys 440, Lys 447, Lys 475, Lys 481, Lys 489, Lys 507, and Lys 578
  • Modification sites at PhosphoSitePlus

Other Protein References for SPG20 Gene

Antibody Products

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

No data available for DME Specific Peptides for SPG20 Gene

Domains & Families for SPG20 Gene

Protein Domains for SPG20 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SPG20 Gene

Graphical View of Domain Structure for InterPro Entry

Q8N0X7

UniProtKB/Swiss-Prot:

SPG20_HUMAN :
  • Contains 1 MIT domain.
Domain:
  • 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. Participates in cytokinesis (PubMed:20719964).
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

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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

COMPARTMENTS
Jensen Localization Image for SPG20 Gene COMPARTMENTS Subcellular localization image for SPG20 gene
Compartment Confidence
mitochondrion 5
plasma membrane 5
cytosol 3
nucleus 3
cytoskeleton 2
endosome 2

Gene Ontology (GO) - Cellular Components for SPG20 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005741 mitochondrial outer membrane IDA 21559443
GO:0030496 midbody IDA 20719964
genes like me logo Genes that share ontologies with SPG20: view

Pathways & Interactions for SPG20 Gene

SuperPathways for SPG20 Gene

Superpath 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:0030514 negative regulation of BMP signaling pathway IEA --
GO:0034389 lipid particle organization IEA --
GO:0060612 adipose tissue development 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:

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: - - - -
SP6:
SP7: - - - - - - - - -
SP8: - - - - -
SP9: -
SP10: - - - - - -
SP11: - - - - -
SP12: - -
SP13: -

ExUns: 11b ^ 12 ^ 13 ^ 14 ^ 15a · 15b · 15c
SP1: -
SP2: -
SP3: -
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:

Relevant External Links for SPG20 Gene

GeneLoc Exon Structure for
SPG20
ECgene alternative splicing isoforms for
SPG20

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 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, MOPED, and MaxQB for SPG20 Gene



SOURCE GeneReport for Unigene cluster for SPG20 Gene Hs.440414

mRNA Expression by UniProt/SwissProt for SPG20 Gene

Q8N0X7-SPG20_HUMAN
Tissue specificity: Ubiquitously expressed, with highest levels of expression detected in adipose tissue.
genes like me logo Genes that share expression patterns with SPG20: view

Protein tissue co-expression partners for SPG20 Gene

- Elite partner

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
cow
(Bos Taurus)
Mammalia SPG20 35
  • 87.89 (n)
  • 88.29 (a)
SPG20 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SPG20 35
  • 90.58 (n)
  • 91.19 (a)
SPG20 36
  • 90 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia SPG20 35
  • 99.3 (n)
  • 99.7 (a)
SPG20 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Spg20 35
  • 82.47 (n)
  • 86.17 (a)
oppossum
(Monodelphis domestica)
Mammalia SPG20 36
  • 64 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Spg20 36
  • 85 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SPG20 36
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves SPG20 35
  • 68.38 (n)
  • 64.09 (a)
SPG20 36
  • 65 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SPG20 36
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia spg20 35
  • 65.37 (n)
  • 64.92 (a)
zebrafish
(Danio rerio)
Actinopterygii spg20a 35
  • 55.29 (n)
  • 50.28 (a)
spg20b 36
  • 57 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2655 35
fruit fly
(Drosophila melanogaster)
Insecta CG12001 36
  • 25 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea F57B10.9 35
  • 43.21 (n)
  • 28.45 (a)
F57B10.9 36
  • 24 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 37 (a)
OneToOne
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

ENSEMBL:
Gene Tree for SPG20 (if available)
TreeFam:
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
rs912926 -- 36,326,363(+) TAGTA(A/G)AACAG intron-variant
rs755050 -- 36,323,050(+) AGAAA(C/T)CTTAG intron-variant
rs755051 -- 36,323,096(+) CAACC(C/T)TAGGA 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

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)
SPG20

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
  • hereditary spastic paraplegia
paraplegia
  • paraplegia, lower
hereditary spastic paraplegia
  • familial spastic paraplegia
hepatitis c virus
  • hepatitic c virus
- elite association - COSMIC cancer census association via MalaCards
Search SPG20 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

SPG20_HUMAN
  • 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)
SPG20
Human Genome Epidemiology (HuGE) Navigator
SPG20
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
SPG20
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 67
  2. A role for ubiquitin ligases and Spartin/SPG20 in lipid droplet turnover. (PMID: 19307600) Eastman S.W. … Bieniasz P.D. (J. Cell Biol. 2009) 3 23
  3. 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 23
  4. 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
  5. Identification of novel spartin-interactors shows spartin is a multifunctional protein. (PMID: 19765186) Milewska M. … Byrne P.C. (J. Neurochem. 2009) 3 23

Products for SPG20 Gene

Sources for SPG20 Gene

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