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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

SPG20 Gene

protein-coding   GIFtS: 57
GCID: GC13M036875

Spastic Paraplegia 20 (Troyer Syndrome)

Alzheimer's & Parkinson's Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Spastic Paraplegia 20 (Troyer Syndrome)1 2     SPARTIN2
spartin1 2     KIAA06103
Trans-Activated By Hepatitis C Virus Core Protein 12 3     Spastic Paraplegia 20 Protein3
TAHCCP12 3     

External Ids:    HGNC: 185141   Entrez Gene: 231112   Ensembl: ENSG000001331047   OMIM: 6071115   UniProtKB: Q8N0X73   

Export aliases for SPG20 gene to outside databases

Previous GC identifers: GC13M030863 GC13M035813 GC13M034675 GC13M034673 GC13M035773 GC13M017687


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 spastic paraplegia 20. GO annotations related to this gene include protein binding and ubiquitin protein ligase binding.

UniProtKB/Swiss-Prot: SPG20_HUMAN, Q8N0X7
Function: May be implicated in endosomal trafficking, or microtubule dynamics, or both

Gene Wiki entry for SPG20 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000013.10  NT_024524.14  NC_018924.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SPG20 gene promoter:
         AREB6   Pbx1a   p53   Hand1   CUTL1   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPG20 promoter sequence
   Search SABiosciences Chromatin IP Primers for SPG20

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPG20


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 13q13.3   Ensembl cytogenetic band:  13q13.3   HGNC cytogenetic band: 13q13.1

SPG20 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPG20 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13M036875:  view genomic region     (about GC identifiers)

Start:
36,875,775 bp from pter      End:
36,944,317 bp from pter
Size:
68,543 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: SPG20_HUMAN, Q8N0X7 (See protein sequence)
Recommended Name: Spartin  
Size: 666 amino acids; 72833 Da
Subunit: Interacts with ITCH and WWP1
Subcellular location: Cytoplasm. Note=Transiently associated with endosomes
Sequence caution: Sequence=BAA25536.1; Type=Erroneous initiation; Sequence=CAC17479.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for SPG20:
2DL1 (3D)    
Secondary accessions: O60349 Q86Y67 Q9H1T2 Q9H1T3

Explore the universe of human proteins at neXtProt for SPG20: NX_Q8N0X7

Explore proteomics data for SPG20 at MOPED 

Post-translational modifications:

  • UniProtKB: Ubiquitinated; ubiquitination does not require ITCH and WWP1
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q8N0X7

  • SPG20 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SPG20 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001135766.1  NP_001135767.1  NP_001135768.1  NP_055902.1  

    ENSEMBL proteins: 
     ENSP00000406061   ENSP00000473599   ENSP00000347314   ENSP00000414147  

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    Browse Sino Biological Cell Lysates 
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    Cloud-Clone Corp. Proteins for SPG20 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA19580544
    GO:0005741mitochondrial outer membrane IDA--
    GO:0005811lipid particle IEA--
    GO:0030496midbody IDA--
    GO:0045202synapse IEA--

    SPG20 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR007330 MIT
     IPR009686 Senescence/spartin

    Graphical View of Domain Structure for InterPro Entry Q8N0X7

    ProtoNet protein and cluster: Q8N0X7

    UniProtKB/Swiss-Prot: SPG20_HUMAN, Q8N0X7
    Similarity: Contains 1 MIT domain


    SPG20 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: SPG20_HUMAN, Q8N0X7
    Function: May be implicated in endosomal trafficking, or microtubule dynamics, or both

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0031625ubiquitin protein ligase binding IPI19580544
         
    SPG20 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SPG20:
     Decreased G3BP1 protein expres 

         7 MGI mutant phenotypes (inferred from 1 allele(MGI details for Spg20):
     adipose tissue  behavior/neurological  cellular  homeostasis/metabolism  nervous system 
     skeleton  tumorigenesis 

    SPG20 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Spg20tm1.1Xen for SPG20

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SPG20 
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    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidSPG20 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPG20


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SPG20

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/30 Interacting proteins for SPG20 (Q8N0X72, 3 ENSP000003473144) via UniProtKB, MINT, STRING, and/or I2D (see all 30)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ZFYVE9O954052, 3MINT-62053 I2D: score=3 
    SMURF2Q9HAU42, 3, ENSP000002624354MINT-61788 I2D: score=4 STRING: ENSP00000262435
    ITCHQ96J023, ENSP000003639984I2D: score=3 STRING: ENSP00000363998
    ACSL4O604883, ENSP000003397874I2D: score=2 STRING: ENSP00000339787
    AIFM1O958313, ENSP000002872954I2D: score=2 STRING: ENSP00000287295
    About this table

    Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000910cytokinesis IEA--
    GO:0008219cell death IEA--
    GO:0009838abscission IMP--
    GO:0030514negative regulation of BMP signaling pathway IEA--
    GO:0034389lipid particle organization IEA--

    SPG20 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for SPG20

    Search CenterWatch for drugs/clinical trials and news about SPG20

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for SPG20 gene (4 alternative transcripts): 
    NM_001142294.1  NM_001142295.1  NM_001142296.1  NM_015087.4  

    Unigene Cluster for SPG20:

    Spastic paraplegia 20 (Troyer syndrome)
    Hs.440414  [show with all ESTs]
    Unigene Representative Sequence: NM_015087
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000438666(uc010ten.2) ENST00000494062 ENST00000491805 ENST00000460126
    ENST00000475603 ENST00000482146 ENST00000495510(uc001uvp.2) ENST00000494703
    ENST00000476377 ENST00000355182(uc001uvq.3) ENST00000451493(uc001uvo.3)


    miRNA
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    8/39 QIAGEN miScript miRNA Assays for microRNAs that regulate SPG20 (see all 39):
    hsa-miR-124* hsa-miR-3685 hsa-miR-2052 hsa-miR-607 hsa-miR-562 hsa-miR-106a hsa-miR-301a hsa-miR-570
    SwitchGear 3'UTR luciferase reporter plasmidSPG20 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AB011182.1 AK001949.1 AK002207.1 AK057764.1 AK291724.1 AK302119.1 AY038359.1 AY123329.1 
    BC026284.1 BC047083.1 BX648004.1 

    17 DOTS entries:

    DT.317189  DT.97836680  DT.120778713  DT.95300476  DT.100747270  DT.75138480  DT.95183638  DT.100747269 
    DT.101964796  DT.75122650  DT.97787683  DT.95300472  DT.100689110  DT.40223736  DT.95300473  DT.95309279 
    DT.97777339 

    24/246 AceView cDNA sequences (see all 246):

    BI752765 BC026284 BX498854 AI378653 BP340079 BQ437119 AI610553 AY038359 
    BG576962 AI471967 AK001949 R67052 BG674816 BP351316 AU141085 CR624417 
    BM456959 AU133175 NM_015087 BM710803 CR609925 AI638619 AA419376 AL597590 

    GeneLoc Exon Structure

    5/13 Alternative Splicing Database (ASD) splice patterns (SP) for SPG20 (see all 13)    About this scheme

    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:                                                  -     -     -     -                                                                                       

    ExUns: 11b ^ 12 ^ 13 ^ 14 ^ 15a · 15b · 15c
    SP1:        -                                 
    SP2:        -                                 
    SP3:        -                                 
    SP4:        -                                 
    SP5:                                          


    ECgene alternative splicing isoforms for SPG20

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    SPG20 expression in normal human tissues (normalized intensities)      SPG20 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTGTATTGT
    SPG20 Expression
    About this image


    SPG20 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             nGnG Amacrine Cells Inner Nuclear Layer
     
     Blood (Hematopoietic System)
             bone marrow cd34+   
     
     Brain (Nervous System)
             Myelinating Oligodendrocyte Cells Forebrain White Matter

    See SPG20 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SPG20

    SOURCE GeneReport for Unigene cluster: Hs.440414

    UniProtKB/Swiss-Prot: SPG20_HUMAN, Q8N0X7
    Tissue specificity: Ubiquitously expressed, with highest levels of expression detected in adipose tissue

        SABiosciences Custom PCR Arrays for SPG20
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPG20

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for SPG20 gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Spg201 , 5 spastic paraplegia 20, spartin (Troyer syndrome) homolog more1, 5 82.06(n)1
    87.6(a)1
      3 (26.53 cM)5
    2292851  NM_001144988.11  NP_001138460.11 
     551121085 
    chicken
    (Gallus gallus)
    Aves SPG201 spastic paraplegia 20 (Troyer syndrome) 68.33(n)
    64.09(a)
      418902  XM_417098.3  XP_417098.1 
    lizard
    (Anolis carolinensis)
    Reptilia SPG206
    Uncharacterized protein
    61(a)
    1 ↔ 1
    3(181727084-181753253)
    zebrafish
    (Danio rerio)
    Actinopterygii spg20a1 spastic paraplegia 20a (Troyer syndrome) 55.15(n)
    49.91(a)
      100005765  NM_001113658.1  NP_001107130.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG120016
    --
    24(a)
    1 ↔ 1
    3R(480550-483707)
    worm
    (Caenorhabditis elegans)
    Secernentea F57B10.91 Protein F57B10.9 42.91(n)
    27.86(a)
      172369  NM_059487.4  NP_491888.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1339 SNPs in SPG20 are shown (see all 1339)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1405315431,2
    --17687137(+) GGTATA/GTTAGA 4 -- ds50010--------
    rs1820696551,2
    --17819557(+) GGAACA/TTGTTT 4 -- ds50010--------
    rs1444963311,2
    --17819617(+) TGCCCC/TAACAA 4 -- ds50010--------
    rs1474408021,2
    --17819691(+) ACAGAC/TGGAAC 4 -- ds50010--------
    rs73345851,2
    C,F,H--17819727(+) TACTCG/TATATA 4 -- ds500124Minor allele frequency- T:0.46NS EA NA WA CSA 2353
    rs1390282701,2
    --17819728(+) ACTCTA/CTATAT 4 -- ds50010--------
    rs1859082591,2
    --17819772(+) GAACTA/GTTCAA 4 -- ds50010--------
    rs1887574221,2
    --17819807(+) ATCTAC/TGGGGT 4 -- ds50010--------
    rs1148146051,2
    F--17819808(+) TCTACG/AGGGTG 4 -- ds50011Minor allele frequency- A:0.01WA 118
    rs1498908261,2
    --17819817(+) TGGGGA/GAGGAG 4 -- ds50010--------

    HapMap Linkage Disequilibrium report for SPG20 (36875775 - 36944317 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for SPG20:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv899993CNV Gain21882294


    Human Gene Mutation Database (HGMD): SPG20
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SPG20
    DNA2.0 Custom Variant and Variant Library Synthesis for SPG20

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 607111   
    OMIM disorders: 275900  
    UniProtKB/Swiss-Prot: SPG20_HUMAN, Q8N0X7
  • 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. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 13 diseases for SPG20:    About MalaCards
    troyer syndrome    spastic paraplegia 20    hepatitis c    pseudobulbar palsy
    paraplegia    spasticity    hereditary spastic paraplegia    hepatitis
    motor neuron disease    short stature    neuropathy    multiple sclerosis
    neuronitis

    1 disease from the University of Copenhagen DISEASES database for SPG20:
    Paraplegia

    SPG20 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    3 Novoseek inferred disease relationships for SPG20 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    troyer syndrome 99.5 50 19307600 (7), 19580544 (3), 17332501 (2), 16036216 (2) (see all 11)
    spastic paraplegia hereditary 95.4 9 12676568 (2), 16781711 (2), 19765186 (1), 12134148 (1) (see all 6)
    spastic paraplegia 78.4 2 16036216 (1)

    GeneTests: SPG20
    GeneReviews: SPG20
    Genetic Association Database (GAD): SPG20
    Human Genome Epidemiology (HuGE) Navigator: SPG20 (1 document)

    Export disorders for SPG20 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for SPG20 gene, integrated from 9 sources (see all 53):
    (articles sorted by number of sources associating them with SPG20)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. (PubMed id 12134148)1, 2, 3, 9 Patel H....Crosby A.H. (2002)
    2. Endogenous spartin (SPG20) is recruited to endosomes and lipid droplets and interacts with the ubiquitin E3 ligases AIP4 and AIP5. (PubMed id 19580544)1, 2, 9 Edwards T.L....Reid E. (2009)
    3. The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia. (PubMed id 12676568)1, 2, 9 Ciccarelli F.D.... Crosby A.H. (2003)
    4. The role of hereditary spastic paraplegia related genes in multiple sclerosis. A study of disease susceptibility and clinical outcome. (PubMed id 17420921)1, 4, 9 DeLuca G.C....Ebers G.C. (2007)
    5. Quantitative analysis of global ubiquitination in HeLa cells by mass spectrometry. (PubMed id 18781797)1, 2 Meierhofer D.... Kaiser P. (2008)
    6. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)1, 2 Dunham A.... Ross M.T. (2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9628581)1, 2 Nagase T....Ohara O. (1998)
    9. The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting. (PubMed id 6022528)1, 3 Cross H.E. and McKusick V.A. (1967)
    10. A role for ubiquitin ligases and Spartin/SPG20 in lipid droplet turnover. (PubMed id 19307600)1, 9 Eastman S.W....Bieniasz P.D. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23111 HGNC: 18514 AceView: SPG20 Ensembl:ENSG00000133104 euGenes: HUgn23111
    ECgene: SPG20 H-InvDB: SPG20

    (According to HUGE)
    About This Section
    HUGE: KIAA0610

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for SPG20 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SPG20

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SPG20 gene:
    Search GeneIP for patents involving SPG20

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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