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

SPTBN2 Gene

protein-coding   GIFtS: 62
GCID: GC11M066453

Spectrin, Beta, Non-Erythrocytic 2

(Previous name: spinocerebellar ataxia 5)
(Previous symbol: SCA5)
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
Spectrin, Beta, Non-Erythrocytic 21 2     SCAR142
SCA51 2 3 5     Glutamate Transporter EAAT4-Associated Protein 412
Beta-III Spectrin2 3     Spectrin Beta Chain, Brain 22
Spinocerebellar Ataxia 5 Protein2 3     Spectrin Beta Chain, Non-Erythrocytic 22
Spinocerebellar Ataxia 51     Spectrin, Non-Erythroid Beta Chain 22
GTRAP412     KIAA03023

External Ids:    HGNC: 112761   Entrez Gene: 67122   Ensembl: ENSG000001738987   OMIM: 6049855   UniProtKB: O150203   

Export aliases for SPTBN2 gene to outside databases

Previous GC identifers: GC11M068986 GC11M068134 GC11M066702 GC11M066228 GC11M066209 GC11M062780


(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 SPTBN2 Gene:
Spectrins are principle components of a cell's membrane-cytoskeleton and are composed of two alpha and two beta
spectrin subunits. The protein encoded by this gene (SPTBN2), is called spectrin beta non-erythrocytic 2 or
beta-III spectrin. It is related to, but distinct from, the beta-II spectrin gene which is also known as spectrin
beta non-erythrocytic 1 (SPTBN1). SPTBN2 regulates the glutamate signaling pathway by stabilizing the glutamate
transporter EAAT4 at the surface of the plasma membrane. Mutations in this gene cause a form of spinocerebellar
ataxia, SCA5, that is characterized by neurodegeneration, progressive locomotor incoordination, dysarthria, and
uncoordinated eye movements. (provided by RefSeq, Dec 2009)

GeneCards Summary for SPTBN2 Gene: 
SPTBN2 (spectrin, beta, non-erythrocytic 2) is a protein-coding gene. Diseases associated with SPTBN2 include spinocerebellar ataxia 5, and spinocerebellar ataxia, and among its related super-pathways are NCAM signaling for neurite out-growth and Axon guidance. GO annotations related to this gene include phospholipid binding and structural constituent of cytoskeleton. An important paralog of this gene is ACTN4.

UniProtKB/Swiss-Prot: SPTN2_HUMAN, O15020
Function: Probably plays an important role in neuronal membrane skeleton

Gene Wiki entry for SPTBN2 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_000011.9  NT_167190.1  NC_018922.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SPTBN2 gene promoter:
         GR   C/EBPbeta   Spz1   AML1a   Nkx2-2   Sox9   AP-4   LCR-F1   Roaz   Arnt   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSPTBN2 promoter sequence
   Search SABiosciences Chromatin IP Primers for SPTBN2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SPTBN2


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

Entrez Gene cytogenetic band: 11q13   Ensembl cytogenetic band:  11q13.2   HGNC cytogenetic band: 11q13.2

SPTBN2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SPTBN2 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M066453:  view genomic region     (about GC identifiers)

Start:
66,452,719 bp from pter      End:
66,496,697 bp from pter
Size:
43,979 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: SPTN2_HUMAN, O15020 (See protein sequence)
Recommended Name: Spectrin beta chain, non-erythrocytic 2  
Size: 2390 amino acids; 271325 Da
Subcellular location: Cytoplasm, cytoskeleton. Cytoplasm, cell cortex
Sequence caution: Sequence=BAA32700.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
2 PDB 3D structures from and Proteopedia for SPTBN2:
1WJM (3D)        1WYQ (3D)    
Secondary accessions: O14872 O14873
Alternative splicing: 2 isoforms:  O15020-1   O15020-2   

Explore the universe of human proteins at neXtProt for SPTBN2: NX_O15020

Explore proteomics data for SPTBN2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O15020

  • SPTBN2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SPTBN2 Protein Expression
    REFSEQ proteins: NP_008877.1  
    ENSEMBL proteins: 
     ENSP00000432568   ENSP00000433593   ENSP00000433631   ENSP00000311489  
    Reactome Protein details: O15020
    Human Recombinant Protein Products for SPTBN2: 
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0008091spectrin IDA9826670
    GO:0043025neuronal cell body IEA--

    SPTBN2 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
    HGNC Gene Families: 
    PLEKH: Pleckstrin homology (PH) domain containing

    5/8 InterPro protein domains (see all 8):
     IPR002017 Spectrin_repeat
     IPR001715 CH-domain
     IPR001849 Pleckstrin_homology
     IPR001589 Actinin_actin-bd_CS
     IPR016343 Spectrin_bsu

    Graphical View of Domain Structure for InterPro Entry O15020

    ProtoNet protein and cluster: O15020

    5 Blocks protein domains:
    IPB001589 Actin-binding
    IPB001605 Spectrin pleckstrin homology domain signature
    IPB001715 Calponin-like actin-binding
    IPB001849 Pleckstrin-like
    IPB002017 Spectrin repeat


    UniProtKB/Swiss-Prot: SPTN2_HUMAN, O15020
    Similarity: Belongs to the spectrin family
    Similarity: Contains 2 CH (calponin-homology) domains
    Similarity: Contains 1 PH domain
    Similarity: Contains 17 spectrin repeats


    SPTBN2 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: SPTN2_HUMAN, O15020
    Function: Probably plays an important role in neuronal membrane skeleton

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005200structural constituent of cytoskeleton TAS9826670
    GO:0005515protein binding ----
    GO:0005543phospholipid binding IEA--
         
    SPTBN2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SPTBN2:
     Decreased TP53 protein express 

         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Sptbn2):
     behavior/neurological  growth/size  nervous system 

    SPTBN2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Sptbn2tm1Mjac for SPTBN2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for SPTBN2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for SPTBN2

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    miRNA
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    8/21 QIAGEN miScript miRNA Assays for microRNAs that regulate SPTBN2 (see all 21):
    hsa-miR-34b* hsa-miR-676 hsa-miR-15a hsa-miR-503 hsa-miR-4299 hsa-miR-424 hsa-miR-298 hsa-miR-34b
    SwitchGear 3'UTR luciferase reporter plasmidSPTBN2 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

    SuperPaths for SPTBN2 About   (see all 7)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Developmental Biology
    Axon guidance0.70
    Developmental Biology0.70
    NCAM signaling for neurite out-growth0.70
    2Axon guidance
    Axon guidance0.69
    L1CAM interactions0.39
    Developmental Biology0.69
    3Immune System
    Immune System0.56
    Adaptive Immune System0.56
    4Sertoli-Sertoli Cell Junction Dynamics
    Sertoli-Sertoli Cell Junction Dynamics0.38
    Epithelial Tight Junctions0.36
    5NCAM signaling for neurite out-growth
    NCAM signaling for neurite out-growth0.62

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for SPTBN2
        Sertoli-Sertoli Cell Junction Dynamics
    Epithelial Tight Junctions

    5/11        Reactome Pathways for SPTBN2 (see all 11)
        L1CAM interactions
    Developmental Biology
    Interaction between L1 and Ankyrins
    Axon guidance
    Adaptive Immune System



    SPTBN2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for SPTBN2

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

    5/56 Interacting proteins for SPTBN2 (O150203 ENSP000003114894) via UniProtKB, MINT, STRING, and/or I2D (see all 56)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APCP250543, ENSP000002574304I2D: score=3 STRING: ENSP00000257430
    ACTBP607093, ENSP000003499604I2D: score=1 STRING: ENSP00000349960
    DCTN1Q142033, ENSP000003547914I2D: score=1 STRING: ENSP00000354791
    ESR2Q927313, ENSP000003439254I2D: score=1 STRING: ENSP00000343925
    SPTA1P025493, ENSP000003571304I2D: score=1 STRING: ENSP00000357130
    About this table

    Gene Ontology (GO): 5/9 biological process terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007411axon guidance TAS--
    GO:0007416synapse assembly IEA--
    GO:0008219cell death IEA--
    GO:0016192vesicle-mediated transport IDA9826670
    GO:0019886antigen processing and presentation of exogenous peptide antigen via MHC class II TAS--

    SPTBN2 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 SPTBN2 (SPTN2)

    Search CenterWatch for drugs/clinical trials and news about SPTBN2 / SPTN2

    (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 SPTBN2 gene: 
    NM_006946.2  

    Unigene Cluster for SPTBN2:

    Spectrin, beta, non-erythrocytic 2
    Hs.26915  [show with all ESTs]
    Unigene Representative Sequence: NM_006946
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000533211(uc001ojd.3) ENST00000529997(uc001ojc.1) ENST00000528051
    ENST00000530775 ENST00000532650 ENST00000532902 ENST00000530665 ENST00000527010
    ENST00000309996

    miRNA
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    8/21 QIAGEN miScript miRNA Assays for microRNAs that regulate SPTBN2 (see all 21):
    hsa-miR-34b* hsa-miR-676 hsa-miR-15a hsa-miR-503 hsa-miR-4299 hsa-miR-424 hsa-miR-298 hsa-miR-34b
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    Additional mRNA sequence: 

    AB008567.1 AF026487.1 AF026488.1 AF079569.1 BC122522.1 BC131819.1 BC139788.1 

    5 DOTS entries:

    DT.313402  DT.100776703  DT.95133313  DT.75115325  DT.95139921 

    24/140 AceView cDNA sequences (see all 140):

    AL043817 AF026488 BU186168 BI258633 BQ884172 BE794034 AA338691 CB155550 
    AB008567 BE791297 BM564196 AF026487 BU150360 AI675430 BM672103 NM_006946 
    BX441425 AI478211 BM799041 AI702184 AK021479 AI906779 BM703706 BU500359 

    GeneLoc Exon Structure

    5/12 Alternative Splicing Database (ASD) splice patterns (SP) for SPTBN2 (see all 12)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21a ·
    SP1:                                                                                                                                                            
    SP2:                                                                                      -                                                                     
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 21b ^ 22 ^ 23 ^ 24a · 24b ^ 25 ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30a · 30b ^ 31a · 31b
    SP1:                                                                    -                     
    SP2:                                                                                          
    SP3:                                                                                          
    SP4:                                                                                          
    SP5:                                                                    -                     


    ECgene alternative splicing isoforms for SPTBN2

    (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

    SPTBN2 expression in normal human tissues (normalized intensities)      SPTBN2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGAGGGCACT
    SPTBN2 Expression
    About this image


    SPTBN2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/19 selected tissues (see all 19) fully expand
     
     Brain (Nervous System)    fully expand to see all 5 entries
             Cerebral Cortex
             cerebellum   
     
     Epithelium (Reproductive System)    fully expand to see all 5 entries
             vagina ; squamous epithelial cells   
     
     Uterus
             cervix, uterine ; glandular cells   
     
     Oral Cavity (Gastrointestinal Tract)    fully expand to see all 2 entries
             salivary gland ; glandular cells   
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             bronchus ; respiratory epithelial cells   

    See SPTBN2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SPTBN2

    SOURCE GeneReport for Unigene cluster: Hs.26915

    UniProtKB/Swiss-Prot: SPTN2_HUMAN, O15020
    Tissue specificity: Highly expressed in brain, kidney, pancreas, and liver, and at lower levels in lung and
    placenta

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SPTBN2

    (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 SPTBN2 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sptbn25
    Spnb31
    spectrin beta 31, 5 87.59(n)1
    95.02(a)1
      19 (4.10 cM)5
    207431  NM_021287.11  NP_067262.11 
     47112235 
    chicken
    (Gallus gallus)
    Aves SPTBN26
    --
    --
    68(a)
    58(a)
    1 ↔ 1
    possible ortholog
    JH375875.1(42-1729)
    JH375526.1(21-6218)
    lizard
    (Anolis carolinensis)
    Reptilia SPTBN26
    Uncharacterized protein
    71(a)
    1 ↔ 1
    GL343961.1(63384-103000)
    zebrafish
    (Danio rerio)
    Actinopterygii sptbn26
    spectrin, beta, non-erythrocytic 2
    66(a)
    1 ↔ 1
    5(39249369-39309302)
    fruit fly
    (Drosophila melanogaster)
    Insecta &bgr;-Spec3 neuromuscular synaptic transmission
    actin binding
    51(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea unc-703 spectrin beta chain 49(a)
    (best of 2)
      V(6883990-6892937)   --


    ENSEMBL Gene Tree for SPTBN2 (if available)
    TreeFam Gene Tree for SPTBN2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SPTBN2 gene
    ACTN42  SYNE22  SPTA12  SPTBN42  SPTB2  SPTBN12  ACTN22  SPTBN52  
    SPTAN12  SYNE12  ACTN12  CLMN2  
    18/19 SIMAP similar genes for SPTBN2 using alignment to 5 protein entries:     SPTN2_HUMAN (see all proteins) (see all similar genes):
    HSpTB1    SPTBN1    PLEC    SPTB    MACF1    UTRN
    SPTBN4    DST    DMD    CLMN    ACF7    DKFZp434J0328
    SYNE1    SPNB4    ACTN4    ACTN3    ACTN1    ACTN2

    SPTBN2 for paralogs           About GeneDecksing



    (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

    10/1066 SNPs in SPTBN2 are shown (see all 1066)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0267674
    Spinocerebellar ataxia 5 (SCA5)4--see VAR_0267672 L P mis40--------
    VAR_0354584
    A colorectal cancer sample4--see VAR_0354582 E K mis40--------
    rs2019854551,2
    Cuntested166376115(+) AACTTC/TGTCGA 2 K E mis10--------
    VAR_0267704
    ----see VAR_0267702 S G mis40--------
    rs351835301,2
    C--62818116(+) GTCTC-/AAAAAA 1 -- us2k11Minor allele frequency- A:0.00NA 2
    rs1919793821,2
    C--66372143(+) GATCCC/TTGTCT 1 -- int10--------
    rs1840542151,2
    --66372177(+) GCAGAC/TGGCAA 1 -- int10--------
    rs1881045441,2
    --66372230(+) CTGGGA/CTGAGC 1 -- int10--------
    rs124216371,2
    C,F,H--66372262(+) CTGTAG/ACAATG 1 -- int18Minor allele frequency- A:0.00NS EA NA 698
    rs1923368321,2
    --66372294(+) AAACAA/GTTTAG 1 -- int10--------

    HapMap Linkage Disequilibrium report for SPTBN2 (66452719 - 66496697 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for SPTBN2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv897791CNV Loss21882294
    nsv522277CNV Loss19592680
    nsv518919CNV Loss19592680
    nsv468602CNV Loss19166990
    dgv1191n71CNV Loss21882294
    nsv897790CNV Loss21882294
    nsv897789CNV Gain21882294


    Human Gene Mutation Database (HGMD): SPTBN2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing SPTBN2
    DNA2.0 Custom Variant and Variant Library Synthesis for SPTBN2

    (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: 604985   
    OMIM disorders: 600224  
    UniProtKB/Swiss-Prot: SPTN2_HUMAN, O15020
  • Spinocerebellar ataxia 5 (SCA5) [MIM:600224]: Spinocerebellar ataxia is a clinically and genetically
    heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor
    coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement
    of the brainstem and spinal cord. SCA5 is an autosomal dominant cerebellar ataxia (ADCA). It is a slowly
    progressive disorder with variable age at onset, ranging between 10 and 50 years. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 6 diseases for SPTBN2:    About MalaCards
    spinocerebellar ataxia 5    spinocerebellar ataxia    dentatorubral-pallidoluysian atrophy    ataxia
    cerebellar ataxia    neuronitis

    3 diseases from the University of Copenhagen DISEASES database for SPTBN2:
    Spinocerebellar ataxia     dentatorubral-pallidoluysian atrophy     Cerebellar ataxia

    SPTBN2 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): SPTBN2
    Human Genome Epidemiology (HuGE) Navigator: SPTBN2 (2 documents)

    Export disorders for SPTBN2 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 SPTBN2 gene, integrated from 9 sources (see all 46):
    (articles sorted by number of sources associating them with SPTBN2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A widely expressed betaIII spectrin associated with Golgi and cytoplasmic vesicles. (PubMed id 9826670)1, 2, 3, 9 Stankewich M.C.... Lux S.E. (1998)
    2. Spectrin mutations cause spinocerebellar ataxia type 5. (PubMed id 16429157)1, 2, 3, 9 Ikeda Y.... Ranum L.P.W. (2006)
    3. Screening of the SPTBN2 (SCA5) gene in German SCA patients. (PubMed id 17940722)1, 4, 9 Zuhlke C....Burk K. (2007)
    4. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    5. Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9205841)1, 2 Nagase T.... Ohara O. (1997)
    6. Interlaboratory reproducibility of large-scale human p rotein-complex analysis by standardized AP-MS. (PubMed id 23455922)1 Varjosalo M....Superti-Furga G. (2013)
    7. bIII spectrin regulates the structural integrity and t he secretory protein transport of the Golgi complex. (PubMed id 23233669)1 Salcedo-Sicilia L....Egea G. (2013)
    8. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    9. Differential gene expression profile in PBMCs from sub jects with AERD and ATA: a gene marker for AERD. (PubMed id 22457146)1 Shin S....Park C.S. (2012)
    10. Recessive mutations in SPTBN2 implicate b-III spectrin in both cognitive and motor development. (PubMed id 23236289)1 Lise S....Nemeth A.H. (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
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      (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: 6712 HGNC: 11276 AceView: SPTBN2 Ensembl:ENSG00000173898 euGenes: HUgn6712
    ECgene: SPTBN2 H-InvDB: SPTBN2

    (According to HUGE)
    About This Section
    HUGE: KIAA0302

    (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 SPTBN2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SPTBN2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SPTBN2 gene:
    Search GeneIP for patents involving SPTBN2

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



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    About This Section

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