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SBF2 Gene

protein-coding   GIFtS: 54
GCID: GC11M009800

SET Binding Factor 2

(Previous names: Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive,...)
(Previous symbol: CMT4B2)
  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)
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Aliases
SET Binding Factor 21 2     Myotubularin Related 131
CMT4B21 2 3 5     DENND7B2
MTMR132 3 5     Myotubularin-Related Protein 132
DENN/MADD Domain Containing 7B1 2     KIAA17663
Charcot-Marie-Tooth Neuropathy 4B2 (Autosomal Recessive, With Myelin
Outfolding)1
     SET-Binding Factor 23

External Ids:    HGNC: 21351   Entrez Gene: 818462   Ensembl: ENSG000001338127   OMIM: 6076975   UniProtKB: Q86WG53   

Export aliases for SBF2 gene to outside databases

Previous GC identifers: GC11M009757 GC11M009472


(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 SBF2 Gene:
This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within
the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been associated with
Charcot-Marie-Tooth Disease, type 4B2. (provided by RefSeq, Jul 2008)

GeneCards Summary for SBF2 Gene:
SBF2 (SET binding factor 2) is a protein-coding gene. Diseases associated with SBF2 include charcot-marie-tooth neuropathy type 4b2, and charcot-marie-tooth disease type 4b2. GO annotations related to this gene include phosphatase binding and protein homodimerization activity. An important paralog of this gene is MTMR7.

UniProtKB/Swiss-Prot: MTMRD_HUMAN, Q86WG5
Function: Guanine nucleotide exchange factor (GEF) which may activate RAB28. Promotes the exchange of GDP to GTP,
converting inactive GDP-bound Rab proteins into their active GTP-bound form

Gene Wiki entry for SBF2 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:
NC_000011.10  NT_009237.19  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the SBF2 gene promoter:
         AP-2alpha isoform 3   AP-2alpha isoform 4   AP-2alpha isoform 2   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSBF2 promoter sequence
   Search Chromatin IP Primers for SBF2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat SBF2


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

Entrez Gene cytogenetic band: 11p15.4   Ensembl cytogenetic band:  11p15.4   HGNC cytogenetic band: 11p15.3

SBF2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SBF2 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M009800:  view genomic region     (about GC identifiers)

Start:
9,800,214 bp from pter      End:
10,315,754 bp from pter
Size:
515,541 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, 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., 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: MTMRD_HUMAN, Q86WG5 (See protein sequence)
Recommended Name: Myotubularin-related protein 13  
Size: 1849 amino acids; 208464 Da
Subunit: Interacts with MTMR2
Caution: In contrast to other members of the family, it lacks a canonical protein-tyrosine phosphatase domain and
lacks the conserved Cys residue in position 1410 which is replaced by a Leu residue. It therefore probably does
not have phosphatase activity
Secondary accessions: Q3MJF0 Q68DQ3 Q6P459 Q6PJD1 Q7Z325 Q7Z621 Q86VE2 Q96FE2 Q9C097
Alternative splicing: 2 isoforms:  Q86WG5-1   Q86WG5-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for SBF2: NX_Q86WG5

Explore proteomics data for SBF2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See SBF2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_112224.1  
    ENSEMBL proteins: 
     ENSP00000256190   ENSP00000434620   ENSP00000432643   ENSP00000410478  

    SBF2 Human Recombinant Protein Products:

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    Novus Biologicals SBF2 Protein
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    Cloud-Clone Corp. Proteins for SBF2

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    Abcam antibodies for SBF2
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    Cloud-Clone Corp. CLIAs for SBF2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PLEKH: Pleckstrin homology (PH) domain containing
    DENND: DENN/MADD domain containing
    DUSPM: Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins

    Selected InterPro protein domains (see all 9):
     IPR005112 dDENN_dom
     IPR017906 Myotubularin_phosphatase_dom
     IPR010569 Myotubularin-like_Pase_dom
     IPR001849 Pleckstrin_homology
     IPR011993 PH_like_dom

    Graphical View of Domain Structure for InterPro Entry Q86WG5

    ProtoNet protein and cluster: Q86WG5

    2 Blocks protein domains:
    IPB001849 Pleckstrin-like
    IPB004182 GRAM domain


    UniProtKB/Swiss-Prot: MTMRD_HUMAN, Q86WG5
    Similarity: Belongs to the protein-tyrosine phosphatase family. Non-receptor class myotubularin subfamily
    Similarity: Contains 1 dDENN domain
    Similarity: Contains 1 DENN domain
    Similarity: Contains 1 GRAM domain
    Similarity: Contains 1 myotubularin phosphatase domain
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 uDENN domain


    SBF2 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MTMRD_HUMAN, Q86WG5
    Function: Guanine nucleotide exchange factor (GEF) which may activate RAB28. Promotes the exchange of GDP to GTP,
    converting inactive GDP-bound Rab proteins into their active GTP-bound form

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI15998640
    GO:0016791phosphatase activity IEA--
    GO:0017112Rab guanyl-nucleotide exchange factor activity IDA--
    GO:0019208phosphatase regulator activity IEA--
    GO:0019902phosphatase binding IEA--
         
    SBF2 for ontologies           About GeneDecksing


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Sbf2):
     behavior/neurological  nervous system  reproductive system 

    SBF2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for SBF2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for SBF2
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    miRNA
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    miRTarBase miRNAs that target SBF2:
    hsa-mir-335-5p (MIRT018858)

    Block miRNA regulation of human, mouse, rat SBF2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SBF2 (see all 45):
    hsa-miR-3685 hsa-miR-607 hsa-miR-300 hsa-miR-548k hsa-miR-513a-5p hsa-miR-29a hsa-miR-3653 hsa-miR-301a
    SwitchGear 3'UTR luciferase reporter plasmidSBF2 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for SBF2
    Predesigned siRNA for gene silencing in human, mouse, rat SBF2

    Gene Editing
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SBF2 (NM_030962)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SBF2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SBF2

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SBF2


    (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
    MTMRD_HUMAN, Q86WG5: Cytoplasm. Membrane; Peripheral membrane protein. Note=Associated with membranes
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton3
    cytosol3
    nucleus3
    vacuole2
    lysosome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005774vacuolar membrane IEA--
    GO:0016020membrane IDA15998640

    SBF2 for ontologies           About GeneDecksing


    (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 SBF2
    Interactions:

        Search GeneGlobe Interaction Network for SBF2

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    4 Interacting proteins for SBF2 (Q86WG53 ENSP000002561904) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PMS1P542773, ENSP000004064904I2D: score=1 STRING: ENSP00000406490
    FOSP011003I2D: score=1 
    NRBF2Q96F243I2D: score=1 
    MTMR2ENSP000003457524STRING: ENSP00000345752
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016311dephosphorylation ----
    GO:0032313regulation of Rab GTPase activity IDA--
    GO:0042552myelination NAS15998640
    GO:0051262protein tetramerization IEA--

    SBF2 for ontologies           About GeneDecksing



    (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 SBF2 (MTMRD)



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for SBF2 gene: 
    NM_030962.3  

    Unigene Cluster for SBF2:

    SET binding factor 2
    Hs.577252  [show with all ESTs]
    Unigene Representative Sequence: NM_030962
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000256190(uc001mic.2 uc001mid.2 uc001mib.2) ENST00000525040
    ENST00000529587 ENST00000532095 ENST00000528478 ENST00000525697 ENST00000530741
    ENST00000524961 ENST00000533584 ENST00000533770(uc001mif.3) ENST00000420722
    ENST00000526353(uc001mih.4) ENST00000527019 ENST00000533661
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat SBF2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate SBF2 (see all 45):
    hsa-miR-3685 hsa-miR-607 hsa-miR-300 hsa-miR-548k hsa-miR-513a-5p hsa-miR-29a hsa-miR-3653 hsa-miR-301a
    SwitchGear 3'UTR luciferase reporter plasmidSBF2 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for SBF2
    Predesigned siRNA for gene silencing in human, mouse, rat SBF2
    Clone
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: SBF2 (NM_030962)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for SBF2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat SBF2
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for SBF2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat SBF2
      QuantiTect SYBR Green Assays in human, mouse, rat SBF2
      QuantiFast Probe-based Assays in human, mouse, rat SBF2

    Additional mRNA sequence: 

    AB051553.1 AF085830.1 AK022478.1 AK026571.1 AK091362.1 AK123621.1 AL512756.1 AL832942.1 
    AY234241.1 BC011143.1 BC027492.1 BC043389.1 BC053867.1 BC063656.1 BC101466.1 BX538184.1 
    BX647533.1 CR749312.1 

    15 DOTS entries:

    DT.313555  DT.40213458  DT.91957512  DT.101969480  DT.95326543  DT.100736649  DT.95293345  DT.100750046 
    DT.75134541  DT.97837682  DT.100639703  DT.120715513  DT.75154979  DT.91686032  DT.95075484 

    Selected AceView cDNA sequences (see all 138):

    BM461560 AI754979 H88098 AY234241 AA598451 BQ446647 NM_030962 AA630746 
    AL512756 BX647533 AI831899 Z44474 BM702128 BQ774853 D79793 CR611690 
    AF085830 BQ721979 BM698888 AA347197 BC043389 BC063656 AB051553 CR603765 

    GeneLoc Exon Structure


    (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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    SBF2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTAAACAGAA
    SBF2 Expression
    About this image

    SBF2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    SBF2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.577252

    UniProtKB/Swiss-Prot: MTMRD_HUMAN, Q86WG5
    Tissue specificity: Widely expressed. Expressed in spinal cord

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SBF2

    (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 SBF2 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sbf21 , 5 SET binding factor 21, 5 88.97(n)1
    94.04(a)1
      7 (57.70 cM)5
    3199341  NM_177324.21  NP_796298.21 
     1103080135 
    chicken
    (Gallus gallus)
    Aves SBF21 SET binding factor 2 78.9(n)
    86.17(a)
      423043  NM_001012895.3  NP_001012913.2 
    lizard
    (Anolis carolinensis)
    Reptilia SBF26
    SET binding factor 2
    85(a)
    1 ↔ 1
    1(63667169-63999029)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.86492 Xenopus laevis transcribed sequence with weak similarity to protein pirT00375 (H.sapiens) T00375 hypothetical protein KIAA0647 - human (fragment) less 73.75(n)    CA792031.1 
    zebrafish
    (Danio rerio)
    Actinopterygii BM534438.12   -- 75.12(n)    BM534438.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Sbf1 SET domain binding factor 52.1(n)
    46.19(a)
      41427  NM_058053.4  NP_477401.2 
    worm
    (Caenorhabditis elegans)
    Secernentea mtm-51 mtm-5 42.85(n)
    31.23(a)
      180792  NM_076487.3  NP_508888.2 


    ENSEMBL Gene Tree for SBF2 (if available)
    TreeFam Gene Tree for SBF2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for SBF2 gene
    MTMR72  MTMR42  MTMR122  MTMR22  MTMR102  MTM12  MTMR82  MTMR32  
    MTMR62  MTMR92  MTMR112  SBF12  MTMR12  
    3 SIMAP similar genes for SBF2 using alignment to 4 protein entries:     MTMRD_HUMAN (see all proteins):
    DKFZp666I2310    DKFZp761D0422    SBF1

    SBF2 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), 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)
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    Selected SNPs for SBF2 (see all 11061)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs794012591,2
    Cuntested19734204(+) CACGCA/GATCTG 2 R C mis10--------
    rs113457861,2
    C--9476013(+) AAAAT-/AAAAAA 1 -- int1 trp32Minor allele frequency- A:0.00NA CSA 4
    rs106411341,2
    C--9476901(+) AACTG-/TATC  
            
    TATCT
    1 -- int10--------
    rs681644081,2
    C--9476931(+) TCCAG-/AAGACT 1 -- int10--------
    rs2021710151,2
    C--9476932(+) CCAGA-/AG    
       ACTGG
    TAAGA
    1 -- int10--------
    rs2020819141,2
    C--9476934(+) AGAAG-/ACTGGT
            
    AAGAA
    1 -- int10--------
    rs722096201,2
    C--9520375(+) GTGTG-/TATATAT 1 -- int10--------
    rs1116302191,2
    C--9520391(+) ATATA-/TATGTG
            
    TGTGT
    1 -- int11Minor allele frequency- TATGTG:0.00CSA 2
    rs559222061,2
    C--9520392(+) TATATAT/-GTGTG 1 -- int11Minor allele frequency- -:0.50NA 2
    rs360824111,2
    C--9521208(+) AAAAA-/A/AA  
            
    GAATC
    1 -- int12NA 4

    HapMap Linkage Disequilibrium report for SBF2 (9800214 - 10050214 bp, first 250kb of SBF2)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for SBF2 (see all 34):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2543425CNV Deletion19546169
    esv2744100CNV Deletion23290073
    esv2744095CNV Deletion23290073
    esv2386638CNV Deletion18987734
    esv2665897CNV Deletion23128226
    esv2087227CNV Deletion18987734
    esv2662075CNV Deletion23128226
    esv2459856CNV Deletion19546169
    esv2666504CNV Deletion23128226
    esv2663460CNV Deletion23128226

    Human Gene Mutation Database (HGMD): SBF2
    Locus Specific Mutation Databases (LSDB): SBF2

    Site Specific Mutation Identification with PCR Assays
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    (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: 607697   
    OMIM disorders: 604563  
    UniProtKB/Swiss-Prot: MTMRD_HUMAN, Q86WG5
  • Charcot-Marie-Tooth disease 4B2 (CMT4B2) [MIM:604563]: A recessive demyelinating form of
    Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness
    and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth
    disease is classified in two main groups on the basis of electrophysiologic properties and histopathology:
    primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary
    peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve
    conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations
    on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow
    feet. By convention autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 19 diseases for SBF2:    
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    charcot-marie-tooth neuropathy type 4b2    charcot-marie-tooth disease type 4b2    early-onset glaucoma    charcot-marie-tooth neuropathy type 4
    charcot-marie-tooth disease type 4    centronuclear myopathy    tooth disease    charcot-marie-tooth disease
    neuropathy    axonal neuropathy    myopathy    glaucoma
    peripheral neuropathy    atherosclerosis    adenocarcinoma    pancreatitis
    multiple myeloma    myeloma    malaria

    2 diseases from the University of Copenhagen DISEASES database for SBF2:
    Neuropathy     Myopathy

    SBF2 for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for SBF2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cmt4b 97.4 10 15998640 (3), 17880751 (2), 15304601 (1), 12554688 (1)
    charcot-marie-tooth disease 89.2 8 18429927 (1), 15304601 (1), 12687498 (1), 16750429 (1) (see all 7)
    centronuclear myopathy 83.9 1 15831468 (1)
    demyelination 53.2 1 16399794 (1)
    glaucoma 40.9 7 15304601 (3), 12687498 (1), 16541790 (1)

    GeneTests: SBF2
    GeneReviews: SBF2
    Genetic Association Database (GAD): SBF2
    Human Genome Epidemiology (HuGE) Navigator: SBF2 (3 documents)

    Export disorders for SBF2 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 SBF2 gene, integrated from 10 sources (see all 40):
    (articles sorted by number of sources associating them with SBF2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. (PubMed id 12554688)1, 2, 9 Senderek J.... Zerres K. (Hum. Mol. Genet. 2003)
    2. The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot- Marie-Tooth disease. (PubMed id 15998640)1, 2, 9 Robinson F.L. and Dixon J.E. (J. Biol. Chem. 2005)
    3. SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma. (PubMed id 15304601)1, 2, 9 Hirano R....Arimura K. (Neurology 2004)
    4. Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma. (PubMed id 12687498)1, 2, 9 Azzedine H.... LeGuern E. (Am. J. Hum. Genet. 2003)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    6. Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis. (PubMed id 19936222)1, 4 Chasman D.I....Ridker P.M. (PLoS Genet. 2009)
    7. A new SBF2 mutation in a family with recessive demyelinating Charcot- Marie-Tooth (CMT4B2). (PubMed id 15477569)1, 2 Conforti F.L.... Quattrone A. (Neurology 2004)
    8. 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)
    9. Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 11214970)1, 2 Nagase T.... Ohara O. (DNA Res. 2000)
    10. Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15. (PubMed id 10644431)1, 3 Othmane K.B....Vance J.M. (Genomics 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
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      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: 81846 HGNC: 2135 AceView: CMT4B2 Ensembl:ENSG00000133812 euGenes: HUgn81846
    ECgene: SBF2 H-InvDB: SBF2

    (According to HUGE)
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    HUGE: KIAA1766

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for SBF2 Pharmacogenomics, SNPs, Pathways
    Inherited peripheral neuropathies mutation dbhttp://www.molgen.ua.ac.be/CMTMutations/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=SBF2[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 SBF2 gene:
    Search GeneIP for patents involving SBF2

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



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