Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 



SPG21 Gene

protein-coding   GIFtS: 53
GCID: GC15M065255

Spastic Paraplegia 21 (Autosomal Recessive, Mast Syndrome)

  See SPG21-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

TryGeneCards Plus

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

TryGeneCards Plus

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 paraplegia. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

TryGeneCards Plus
RefSeq DNA sequence at NCBI GenBank:
NC_000015.9  NT_010194.18  NC_018926.2  
Regulatory elements:
   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 Chromatin IP Primers for SPG21

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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.)
About This Section

TryGeneCards Plus

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
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: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SPG21 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    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  

    SPG21 Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for SPG21
    OriGene Protein Over-expression Lysate for SPG21
    OriGene MassSpec for SPG21
    OriGene Custom Protein Services for SPG21
    GenScript Custom Purified and Recombinant Proteins Services for SPG21
    Novus Biologicals SPG21 Proteins
    Novus Biologicals SPG21 Lysates
    Sino Biological Recombinant Protein for SPG21
    Sino Biological Cell Lysate for SPG21
    ProSpec Recombinant Protein for SPG21
    Cloud-Clone Corp. Proteins for SPG21

     
    Search eBioscience for Proteins for SPG21 

    SPG21 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for SPG21
    Novus Biologicals SPG21 Antibodies
    Abcam antibodies for SPG21
    Cloud-Clone Corp. Antibodies for SPG21
    ThermoFisher Antibodies for SPG21
    LSBio Antibodies in human, mouse, rat for SPG21

    SPG21 Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for SPG21
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for SPG21
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for SPG21
    Cloud-Clone Corp. CLIAs for SPG21
    Search eBioscience for ELISAs for SPG21 


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

    TryGeneCards Plus
    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


    Find genes that share domains with SPG21           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.)
    About This Section

    TryGeneCards Plus

    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:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0042609CD4 receptor binding IPI11113139
         
    Find genes that share ontologies with SPG21           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SPG21
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SPG21

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SPG21
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for SPG21

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat SPG21 using miScript Target Protectors
    3 qRT-PCR 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
    Products:
        
    OriGene RNAi products in human, mouse, rat for SPG21
    Predesigned siRNA for gene silencing in human, mouse, rat SPG21

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for SPG21

    Clone
    Products:
         
    OriGene clones in human, mouse for SPG21 (see all 16)
    OriGene ORF clones in mouse, rat for SPG21
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): SPG21 (NM_001127889)
    Sino Biological Human cDNA Clone for SPG21
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SPG21
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPG21

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for SPG21
    Browse ESI BIO Cell Lines and PureStem Progenitors for SPG21 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPG21


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
    About This Section

    TryGeneCards Plus

    Subcellular locations from UniProtKB/Swiss-Prot
    SPG21_HUMAN, Q9NZD8: 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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    endosome5
    golgi apparatus5
    nucleus4
    mitochondrion1

    Gene Ontology (GO): 5 cellular component terms:    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

    Find genes that share ontologies with SPG21           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).
    About This Section

    TryGeneCards Plus




        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for SPG21
    Interactions:

        GeneGlobe Interaction Network for SPG21

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

    Selected 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:    About this table

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

    Find genes that share ontologies with SPG21           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)
    About This Section

    TryGeneCards Plus
    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for 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,
    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 )
    About This Section

    TryGeneCards Plus

    REFSEQ mRNAs for SPG21 gene (3 alternative transcripts): 
    NM_001127889.3  NM_001127890.3  NM_016630.5  

    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
    Products:
         
    Block miRNA regulation of human, mouse, rat SPG21 using miScript Target Protectors
    3 qRT-PCR 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
    Products:
         
    OriGene RNAi products in human, mouse, rat for SPG21
    Predesigned siRNA for gene silencing in human, mouse, rat SPG21
    Clone
    Products:
         
    OriGene clones in human, mouse for SPG21 (see all 16)
    OriGene ORF clones in mouse, rat for SPG21
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): SPG21 (NM_001127889)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SPG21
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPG21
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for SPG21
    OriGene qSTAR qPCR primer pairs in human, mouse for SPG21
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SPG21
      QuantiTect SYBR Green Assays in human, mouse, rat SPG21
      QuantiFast Probe-based Assays in human, mouse, rat SPG21

    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 

    Selected AceView cDNA sequences (see all 349):

    BQ425838 NM_016630 R81568 AA885960 BG655827 BU857034 BF087712 CN482514 
    D31503 AI818073 BM666585 BP376788 AA825431 BU631376 CA390608 BQ581539 
    BM311567 AA296758 BX345607 CK821563 CD251190 BM699080 BU735427 AI375568 

    GeneLoc Exon Structure

    Selected 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™, 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)
    About This Section

    TryGeneCards Plus

    SPG21 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 9) fully expand
     
     Thymus (Hematopoietic System)
             Double Positive Thymocytes Thymus
     
     Blood (Cardiovascular System)
             Double Positive Thymocytes Thymus
     
     Kidney (Urinary System)
     
     Uterus (Reproductive System)
     
     Thyroid (Endocrine System)
    SPG21 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SPG21 Protein Expression

    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)

        Custom PCR Arrays for SPG21
    Primer
    Products:
    OriGene qPCR primer pairs and template standards for SPG21
    OriGene qSTAR qPCR primer pairs in human, mouse for SPG21
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SPG21
    QuantiTect SYBR Green Assays in human, mouse, rat SPG21
    QuantiFast Probe-based Assays in human, mouse, rat SPG21
    In Situ
    Assay Products:
     

     
    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

    TryGeneCards Plus

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SPG21 gene from Selected 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
    spastic paraplegia 21 (autosomal recessive, Mast s...
    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 AT4G12230 53.38(n)
    45.86(a)
      826831  NM_117293.1  NP_192960.1 
    rice
    (Oryza sativa)
    Liliopsida Os10g01698001 Os10g0169800 51.81(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

    TryGeneCards Plus
      --

    (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

    TryGeneCards Plus

    Selected SNPs for SPG21 (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
    Site Specific Mutation Identification with 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, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TryGeneCards Plus
    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

  • 2 diseases for SPG21:    
    About MalaCards
    mast syndrome    paraplegia

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

    Find genes that share disorders with SPG21           About GenesLikeMe


    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

    TryGeneCards Plus

    PubMed articles for SPG21 gene, integrated from 10 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. (J. Biol. Chem. 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. (Am. J. Hum. Genet. 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. (Neurogenetics 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. (Genome Res. 2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (Cell 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. (Nat. Cell Biol. 2012)
    8. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    9. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (BMC Syst. Biol. 2011)
    10. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

    TryGeneCards Plus
     ANDOR
    Aliases
    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

    TryGeneCards Plus
    Entrez Gene: 51324 HGNC: 20373 AceView: SPG21 Ensembl:ENSG00000090487 euGenes: HUgn51324
    ECgene: SPG21 H-InvDB: SPG21

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (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

    TryGeneCards Plus
    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

    TryGeneCards Plus
    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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

    TryGeneCards Plus

     
     EMD Millipore genomic analysis products

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Enzyme Activity Assays/Reagents  
     Browse ELISpot/FluoroSpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Luminex Assays  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Recombinant/Natural Proteins   Browse Stem Cell Products  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for SPG21  
     OriGene qPCR primer pairs and template standards for SPG21   OriGene Protein Over-expression Lysate for SPG21  
     OriGene MassSpec something-or-other for SPG21   OriGene clones in human, mouse for SPG21  
     OriGene qSTAR qPCR primer pairs in human, mouse for SPG21   OriGene Purified Protein for SPG21  
     OriGene ORF clones in mouse, rat for SPG21   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for SPG21   OriGene Custom Protein Services for SPG21  

     
     
     Block miRNA regulation of human, mouse, rat SPG21 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing SPG21
     DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SPG21 Predesigned siRNA for gene silencing in human, mouse, rat SPG21
     QuantiFast Probe-based Assays in human, mouse, rat SPG21 QuantiTect SYBR Green Assays in human, mouse, rat SPG21
     Custom PCR Arrays for SPG21 Search Chromatin IP Primers for SPG21
     Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SPG21  GeneGlobe Interaction Network for SPG21
     Regulatory tfbs in SPG21 promoter
     GenScript Custom Purified and Recombinant Proteins Services for SPG21 GenScript cDNA clones with any tag delivered in your preferred vector for SPG21
     GenScript Custom Assay Services for SPG21 GenScript Custom overexpressing Cell Line Services for SPG21
     CloneReady with Over 120,000 Genes  Gene Synthesis: Any Gene in Any Vector
     Vector-based siRNA and miRNA, Ready for Transfection Gene Mutant Library, Variants up to 10^11
     Plasmid Preparation Custom Peptide Services
     Search for Antibodies & Assays

     Search Tocris compounds for SPG21
     Proteins for SPG21
     Cell Lysates for SPG21
     cDNA Clones for SPG21
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

     Novus Tissue Slides
     SPG21 antibodies
     SPG21 proteins
     SPG21 lysates
     Antibodies for SPG21
     See all of Abcam's Antibodies, Kits and Proteins for SPG21
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Recombinant Protein for SPG21
     Proteins for SPG21
     Antibodies for SPG21
     ELISAs for SPG21
     CLIAs for SPG21



     Browse ESI BIO Cell Lines and PureStem Progenitors for SPG21
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPG21
     SwitchGear 3'UTR luciferase reporter plasmids for SPG21
     SwitchGear Promoter luciferase reporter plasmids for SPG21
     ThermoFisher Antibodies for SPG21
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SPG21
     inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SPG21
     inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for SPG21
     LSBio Antibodies in human, mouse, rat for SPG21
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
     Browse compounds at ApexBio
     Search Addgene for plasmids for SPG21
      Search eBioscience for proteins for SPG21
      Search eBioscience for elisas for SPG21
      eBioscience FlowRNA Probe Sets
           
    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

    View Random Gene

    Category
    (GIFtS: )
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      SPG21 gene at Home site.
    Version: 3.12.216 30 Sep 2014
    hostname: 356977-web1.xennexinc.com index build: 128 solr: 1.4