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

SPG21 Gene

protein-coding   GIFtS: 53
GCID: GC15M065255

Spastic Paraplegia 21 (Autosomal Recessive, Mast Syndrome)

Alzheimer's & Parkinson's Diseases Congress
  See 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)
About This Section

Aliases
Spastic Paraplegia 21 (Autosomal Recessive, Mast Syndrome)1 2     MAST2 5
ACP332 3 5     GL0102
maspardin1 2     Spastic Paraplegia 21 Autosomal Recessive Mast Syndrome Protein3
Acid Cluster Protein 332 3     Spastic Paraplegia 21 Protein3

External Ids:    HGNC: 203731   Entrez Gene: 513242   Ensembl: ENSG000000904877   OMIM: 6081815   UniProtKB: Q9NZD83   

Export aliases for SPG21 gene to outside databases

Previous GC identifers: GC13U900001 GC15M062972 GC15M063042 GC15M042080


(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 SPG21 Gene:
The protein encoded by this gene binds to the hydrophobic C-terminal amino acids of CD4 which are involved in
repression of T cell activation. The interaction with CD4 is mediated by the noncatalytic alpha/beta hydrolase
fold domain of this protein. It is thus proposed that this gene product modulates the stimulatory activity of
CD4. Mutations in this gene are associated with autosomal recessive spastic paraplegia 21 (SPG21), also known as
mast syndrome. At least three different transcript variants encoding two different isoforms have been found for
this gene. (provided by RefSeq, Aug 2013)

GeneCards Summary for SPG21 Gene: 
SPG21 (spastic paraplegia 21 (autosomal recessive, Mast syndrome)) is a protein-coding gene. Diseases associated with SPG21 include mast syndrome, and ruptured abdominal aortic aneurysm. GO annotations related to this gene include CD4 receptor binding.

UniProtKB/Swiss-Prot: SPG21_HUMAN, Q9NZD8
Function: May play a role as a negative regulatory factor in CD4-dependent T-cell activation

Gene Wiki entry for SPG21 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_000015.9  NT_010194.17  NC_018926.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SPG21 gene promoter:
         AREB6   Max1   NF-kappaB   NF-kappaB1   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPG21 promoter sequence
   Search SABiosciences Chromatin IP Primers for SPG21

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPG21


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

Entrez Gene cytogenetic band: 15q21-q22   Ensembl cytogenetic band:  15q22.31   HGNC cytogenetic band: 15q21-q22

SPG21 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPG21 gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M065255:  view genomic region     (about GC identifiers)

Start:
65,255,362 bp from pter      End:
65,282,648 bp from pter
Size:
27,287 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: SPG21_HUMAN, Q9NZD8 (See protein sequence)
Recommended Name: Maspardin  
Size: 308 amino acids; 34960 Da
Subunit: Interacts with CD4. Interacts with ALDH16A1
Subcellular location: Cytoplasm, cytosol. Membrane; Peripheral membrane protein. Endosome membrane; Peripheral
membrane protein. Golgi apparatus, trans-Golgi network membrane; Peripheral membrane protein. Note=Partially
localized in the cytosol but also accumulated on an intracellular vesicular compartment. Colocalizes with CD4 on
endosomal/trans-Golgi network
Secondary accessions: B4DW44 Q6ZMB6
Alternative splicing: 2 isoforms:  Q9NZD8-1   Q9NZD8-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SPG21: NX_Q9NZD8

Explore proteomics data for SPG21 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NZD8

  • SPG21 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SPG21 Protein Expression
    REFSEQ proteins (3 alternative transcripts): 
    NP_001121361.1  NP_001121362.1  NP_057714.1  

    ENSEMBL proteins: 
     ENSP00000204566   ENSP00000456365   ENSP00000404111   ENSP00000452865   ENSP00000394846  
     ENSP00000452728   ENSP00000453541   ENSP00000453333   ENSP00000453362   ENSP00000453167  
     ENSP00000453658  

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    Sino Biological Recombinant Protein for SPG21
    Sino Biological Cell Lysate for SPG21 
    ProSpec Recombinant Protein for SPG21
    Cloud-Clone Corp. Proteins for SPG21 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005829cytosol IDA11113139
    GO:0010008endosome membrane IEA--
    GO:0030140trans-Golgi network transport vesicle IDA11113139

    SPG21 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
    1 InterPro protein domain:
     IPR026151 Maspardin

    Graphical View of Domain Structure for InterPro Entry Q9NZD8

    ProtoNet protein and cluster: Q9NZD8

    UniProtKB/Swiss-Prot: SPG21_HUMAN, Q9NZD8
    Similarity: Belongs to the AB hydrolase superfamily


    SPG21 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: SPG21_HUMAN, Q9NZD8
    Function: May play a role as a negative regulatory factor in CD4-dependent T-cell activation

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0042609CD4 receptor binding IPI11113139
         
    SPG21 for ontologies           About GeneDecksing


    Animal Models:
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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate SPG21:
    hsa-miR-548p hsa-miR-128 hsa-miR-3681*
    SwitchGear 3'UTR luciferase reporter plasmidSPG21 3' UTR sequence
    Inhib. RNA
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    (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 SPG21

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    5/26 Interacting proteins for SPG21 (Q9NZD82, 3 ENSP000002045664) via UniProtKB, MINT, STRING, and/or I2D (see all 26)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    LINC00921O149782, 3MINT-67414 I2D: score=5 
    RTN4Q9NQC32, 3, ENSP000003378384MINT-67816 I2D: score=5 STRING: ENSP00000337838
    ZNF263O149782, 3, ENSP000002190694MINT-67414 I2D: score=5 STRING: ENSP00000219069
    CTPS2Q9NRF82, 3, ENSP000003522224MINT-66818 I2D: score=5 STRING: ENSP00000352222
    GGA2Q9UJY42, 3, ENSP000003119624MINT-66286 I2D: score=5 STRING: ENSP00000311962
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008219cell death IEA--
    GO:0050851antigen receptor-mediated signaling pathway IC11113139

    SPG21 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 SPG21

    Search CenterWatch for drugs/clinical trials and news about SPG21

    (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 SPG21 gene (3 alternative transcripts): 
    NM_001127889.2  NM_001127890.2  NM_016630.4  

    Unigene Cluster for SPG21:

    Spastic paraplegia 21 (autosomal recessive, Mast syndrome)
    Hs.242458  [show with all ESTs]
    Unigene Representative Sequence: AL137312
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000204566(uc002aoe.3 uc010bhb.3) ENST00000559199 ENST00000433215(uc002aod.3)
    ENST00000561078 ENST00000416889 ENST00000558765 ENST00000557795 ENST00000560564
    ENST00000559677 ENST00000558943 ENST00000558415 ENST00000560878 ENST00000558339
    ENST00000561088

    miRNA
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    3 QIAGEN miScript miRNA Assays for microRNAs that regulate SPG21:
    hsa-miR-548p hsa-miR-128 hsa-miR-3681*
    SwitchGear 3'UTR luciferase reporter plasmidSPG21 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF208861.1 AF212231.1 AK123725.1 AK172849.1 AK225527.1 AK301362.1 AK312943.1 AL137312.1 
    BC000244.1 

    14 DOTS entries:

    DT.454639  DT.91762304  DT.91832373  DT.95138500  DT.91762303  DT.100820989  DT.100820993  DT.91844063 
    DT.91697318  DT.95121964  DT.100029158  DT.100820992  DT.70101577  DT.91762313 

    24/349 AceView cDNA sequences (see all 349):

    BM976902 BM709670 AA370209 BQ425838 AA296758 BU195993 BG655827 CK821563 
    BM311567 AA370208 BU538783 BM907418 CD107345 BP351908 BU150007 CN482514 
    AA314472 BM682107 BM985242 CB529811 CD251190 CR592296 BP376788 BI905889 

    GeneLoc Exon Structure

    5/7 Alternative Splicing Database (ASD) splice patterns (SP) for SPG21 (see all 7)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13
    SP1:              -     -     -     -     -           -     -                                                         
    SP2:                          -     -     -           -     -                                                         
    SP3:                          -                       -     -                                                         
    SP4:                                                                                                                  
    SP5:              -     -     -     -     -     -     -     -                                                         


    ECgene alternative splicing isoforms for SPG21

    (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

    SPG21 expression in normal human tissues (normalized intensities)      SPG21 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCACTACCC
    SPG21 Expression
    About this image


    SPG21 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Thymus (Hematopoietic System)
             Double Positive Thymocytes Thymus
     
     Blood (Cardiovascular System)
             Double Positive Thymocytes Thymus

    See SPG21 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SPG21

    SOURCE GeneReport for Unigene cluster: Hs.242458

    UniProtKB/Swiss-Prot: SPG21_HUMAN, Q9NZD8
    Tissue specificity: Expressed in all tissues tested, including heart, brain, placenta, lung, liver, skeletal
    muscle, kidney and pancreas. Expressed in J.CaM1.6, HuT 78 and HeLa cell lines (at protein level)

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPG21

    (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 eukaryotes.

    Orthologs for SPG21 gene from 7/16 species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Spg211 , 5 spastic paraplegia 21 homolog (human)1, 5 88.06(n)1
    98.05(a)1
      9 (35.32 cM)5
    279651  NM_138584.21  NP_613050.11 
     654609375 
    chicken
    (Gallus gallus)
    Aves SPG211 spastic paraplegia 21 (autosomal recessive, Mast syndrome) 82.36(n)
    94.81(a)
      415526  NM_001198603.1  NP_001185532.1 
    lizard
    (Anolis carolinensis)
    Reptilia SPG216
    Uncharacterized protein
    90(a)
    1 ↔ 1
    GL343392.1(339556-353100)
    African clawed frog
    (Xenopus laevis)
    Amphibia CA792967.12   -- 84.69(n)    CA792967.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.271612 Danio rerio cDNA clone MGC73091 IMAGE4200376, complete more 77.84(n)    AY394947.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G122301 esterase/lipase/thioesterase family protein 53.75(n)
    46.51(a)
      826831  NM_117293.1  NP_192960.1 
    rice
    (Oryza sativa)
    Liliopsida Os10g01698001 hypothetical protein 51.68(n)
    44.96(a)
      4348183  NM_001070765.1  NP_001064230.1 


    ENSEMBL Gene Tree for SPG21 (if available)
    TreeFam Gene Tree for SPG21 (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

    10/629 SNPs in SPG21 are shown (see all 629)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs129157181,2
    C,F--45315730(+) ccgggC/Tgtggt 3 -- ds50012Minor allele frequency- T:0.50NA WA 4
    rs1885586811,2
    --45315760(+) AGCTAC/TTTGGG 3 -- ds50010--------
    rs1470649941,2
    --45315959(+) TGCCAA/TTTTCT 3 -- ds50010--------
    rs169484401,2
    C,F,H--45316009(+) GAAGAT/CGAGAA 3 -- ds500121Minor allele frequency- C:0.17NA NS EA WA CSA 2244
    rs574383581,2
    C,F--45316209(+) TCAGTG/TAAATT 3 -- ut313Minor allele frequency- T:0.35WA CSA 122
    rs727406711,2
    C,F--45316313(+) GGAGAA/C/GCAAAC 6 -- ut313NA CSA 123
    rs1387797761,2
    --45316326(+) TGGGGC/TAGTGG 3 -- ut310--------
    rs2014180881,2
    C--45316462(-) TTTTTC/TTNNNN 3 -- ut310--------
    rs73221,2
    C,F,O,A,H--45316545(-) GTGCAG/AATTTT 3 -- ut31 ese332Minor allele frequency- A:0.45MN NA NS EA WA CSA 3226
    rs740193921,2
    C,F--45316727(+) AAGGCC/TGGCTG 3 -- ut312Minor allele frequency- T:0.07WA 120

    HapMap Linkage Disequilibrium report for SPG21 (65255362 - 65282648 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for SPG21:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv833041CNV Loss17160897
    nsv510404CNV Loss20534489


    Human Gene Mutation Database (HGMD): SPG21
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SPG21
    DNA2.0 Custom Variant and Variant Library Synthesis for SPG21

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608181   
    OMIM disorders: 248900  
    UniProtKB/Swiss-Prot: SPG21_HUMAN, Q9NZD8
  • Spastic paraplegia 21, autosomal recessive (SPG21) [MIM:248900]: 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. SPG21 is associated with dementia and other central nervous system
    abnormalities. Subtle childhood abnormalities may be present, but the main features develop in early adulthood.
    The disease is slowly progressive, and cerebellar and extrapyramidal signs are also found in patients with
    advanced disease. Patients have a thin corpus callosum and white-matter abnormalities. Note=The disease is caused
    by mutations affecting the gene represented in this entry

  • 16 diseases for SPG21:    About MalaCards
    mast syndrome    ruptured abdominal aortic aneurysm    compartment syndrome    gonorrhea
    abdominal aortic aneurysm    paraplegia    spasticity    substance abuse
    aortic aneurysm    hereditary spastic paraplegia    cerebrovascular accident    rhinitis
    dementia    multiple sclerosis    hepatitis b    hepatitis

    1 disease from the University of Copenhagen DISEASES database for SPG21:
    Paraplegia

    SPG21 for disorders           About GeneDecksing


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

    Export disorders for SPG21 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 SPG21 gene, integrated from 9 sources (see all 25):
    (articles sorted by number of sources associating them with SPG21)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning of ACP33 as a novel intracellular ligand of CD4. (PubMed id 11113139)1, 2, 3, 9 Zeitlmann L.... Kolanus W. (2001)
    2. Maspardin is mutated in Mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. (PubMed id 14564668)1, 2, 3, 9 Simpson M.A.... Crosby A.H. (2003)
    3. Interaction of the SPG21 protein ACP33/maspardin with the aldehyde dehydrogenase ALDH16A1. (PubMed id 19184135)1, 2, 9 Hanna M.C. and Blackstone C. (2009)
    4. 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)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    7. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (2012)
    8. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    10. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51324 HGNC: 20373 AceView: SPG21 Ensembl:ENSG00000090487 euGenes: HUgn51324
    ECgene: SPG21 H-InvDB: SPG21

    (According to HUGE)
    About This Section
      --

    (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 SPG21 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SPG21 gene:
    Search GeneIP for patents involving SPG21

    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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