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SPG20 Gene

protein-coding   GIFtS: 59
GCID: GC13M036875

Spastic Paraplegia 20 (Troyer Syndrome)

  See SPG20-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000013.10  NT_024524.15  NC_018924.2  
Regulatory elements:
   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 Chromatin IP Primers for SPG20

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: SPG20_HUMAN, Q8N0X7 (See protein sequence)
Recommended Name: Spartin  
Size: 666 amino acids; 72833 Da
Subunit: Interacts with ITCH and WWP1
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: 

  • Ubiquitinated; ubiquitination does not require ITCH and WWP11
  • Ubiquitination2 at Lys29, Lys47, Lys62, Lys82, Lys362, Lys370, Lys377, Lys440, Lys447, Lys465,
                                 Lys475, Lys481, Lys489, Lys507, Lys578
  • Modification sites at PhosphoSitePlus

  • See SPG20 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

    ENSEMBL proteins: 
     ENSP00000406061   ENSP00000473599   ENSP00000347314   ENSP00000414147  

    SPG20 Human Recombinant Protein Products:

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    Novus Biologicals SPG20 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for SPG20

     
    Search eBioscience for Proteins for SPG20 

    SPG20 Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of SPG20
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    LSBio Antibodies in human, mouse, rat for SPG20

    SPG20 Assay Products:

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    Search eBioscience for ELISAs for SPG20 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    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


    Find genes that share domains with SPG20           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0031625ubiquitin protein ligase binding IPI19580544
         
    Find genes that share ontologies with SPG20           About GenesLikeMe


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

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

    Find genes that share phenotypes with SPG20           About GenesLikeMe

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

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SPG20
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SPG20

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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SPG20

    miRNA
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    miRTarBase miRNAs that target SPG20:
    hsa-mir-130b-3p (MIRT020313), hsa-mir-197-3p (MIRT048060), hsa-mir-19b-3p (MIRT031237)

    Block miRNA regulation of human, mouse, rat SPG20 using miScript Target Protectors
    Selected qRT-PCR 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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    Predesigned siRNA for gene silencing in human, mouse, rat SPG20

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    GenScript: all cDNA clones in your preferred vector (see all 4): SPG20 (NM_001142294)
    Sino Biological Human cDNA Clone for SPG20
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SPG20
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPG20

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPG20


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    SPG20_HUMAN, Q8N0X7: Cytoplasm. Note=Transiently associated with endosomes
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    mitochondrion5
    cytosol2
    nucleus2
    cytoskeleton1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005741mitochondrial outer membrane IDA--
    GO:0005811lipid particle IEA--
    GO:0005886plasma membrane IDA--
    GO:0030496midbody IDA--

    Find genes that share ontologies with SPG20           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SPG20
    Interactions:

        GeneGlobe Interaction Network for SPG20

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

    Selected 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): Selected biological process terms (see all 10):    About this table

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

    Find genes that share ontologies with SPG20           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for 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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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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    Block miRNA regulation of human, mouse, rat SPG20 using miScript Target Protectors
    Selected qRT-PCR 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
    Products:
         
    OriGene RNAi products in human, mouse, rat for SPG20
    Predesigned siRNA for gene silencing in human, mouse, rat SPG20
    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 4): SPG20 (NM_001142294)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SPG20
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPG20
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for SPG20
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SPG20
      QuantiTect SYBR Green Assays in human, mouse, rat SPG20
      QuantiFast Probe-based Assays in human, mouse, rat SPG20

    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 

    Selected AceView cDNA sequences (see all 246):

    BP379493 AI610553 H97239 BC026284 AA419376 NM_015087 BG576962 AL702201 
    AL118692 AI638619 BU622545 BM710803 AL597590 CK299727 AY123329 CR624417 
    BX498854 CA396897 BM456959 AB011182 BG674816 AI378653 CR609925 R67052 

    GeneLoc Exon Structure

    Selected 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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    SPG20 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 5) fully expand
     
     Neurons
             nGnG Amacrine Cells Inner Nuclear Layer
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             nGnG Amacrine Cells Inner Nuclear Layer
     
     Brain (Nervous System)
             Myelinating Oligodendrocyte Cells Forebrain White Matter
     
     Ovary (Reproductive System)
     
     Adrenal Gland (Endocrine System)
    SPG20 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SPG20 Protein Expression

    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

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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for SPG20 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Spg205 spastic paraplegia 20, spartin (Troyer syndrome) homolog more   --   3 (26.53 cM) 55112108 
    chicken
    (Gallus gallus)
    Aves SPG201 spastic paraplegia 20 (Troyer syndrome) 68.38(n)
    64.09(a)
      418902  XM_004938749.1  XP_004938806.1 
    lizard
    (Anolis carolinensis)
    Reptilia SPG206
    spastic paraplegia 20 (Troyer syndrome)
    62(a)
    1 ↔ 1
    3(181727084-181753253)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia spg201 spastic paraplegia 20 (Troyer syndrome) 65.37(n)
    64.92(a)
      100170472  NM_001130255.1  NP_001123727.1 
    zebrafish
    (Danio rerio)
    Actinopterygii spg20a1 spastic paraplegia 20a (Troyer syndrome) 55.29(n)
    50.28(a)
      100005765  NM_001113658.1  NP_001107130.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG120016
    --
    25(a)
    1 ↔ 1
    3R(480550-483707)
    worm
    (Caenorhabditis elegans)
    Secernentea F57B10.91 F57B10.9 43.21(n)
    28.45(a)
      172369  NM_059487.5  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)
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      --

    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
    About This Section

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    Selected SNPs for SPG20 (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
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • 6 diseases for SPG20:    
    About MalaCards
    troyer syndrome    spastic paraplegia 20    hepatitis c    hepatitis c virus
    hepatitis    paraplegia

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

    Find genes that share disorders with SPG20           About GenesLikeMe

    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)
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    PubMed articles for SPG20 gene, integrated from 10 sources (see all 54):
    (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. (Nat. Genet. 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. (Biochem. J. 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. (Genomics 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. (J. Neurol. 2007)
    5. The DNA sequence and analysis of human chromosome 13. (PubMed id 15057823)1, 2 Dunham A.... Ross M.T. (Nature 2004)
    6. 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. (Genome Res. 2004)
    7. 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. (DNA Res. 1998)
    8. 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. (Arch. Neurol. 1967)
    9. A role for ubiquitin ligases and Spartin/SPG20 in lipid droplet turnover. (PubMed id 19307600)1, 9 Eastman S.W....Bieniasz P.D. (J. Cell Biol. 2009)
    10. Identification of novel spartin-interactors shows spartin is a multifunctional protein. (PubMed id 19765186)1, 9 Milewska M....Byrne P.C. (J. Neurochem. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 23111 HGNC: 18514 AceView: SPG20 Ensembl:ENSG00000133104 euGenes: HUgn23111
    ECgene: SPG20 H-InvDB: SPG20

    (According to HUGE)
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    HUGE: KIAA0610

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for SPG20 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SPG20[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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