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

SBF2 Gene

protein-coding   GIFtS: 53
GCID: GC11M009800

SET binding factor 2

(Previous names: Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive,...)
(Previous symbol: CMT4B2)
 Explore 15 diseases affiliated with
SBF2 via our new
 Human Malady Compendium 
Biological research products
for SBF2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
SET Binding Factor 21 2     KIAA17661 3
CMT4B21 2 3 5     Charcot-Marie-Tooth Neuropathy 4B2 (Autosomal Recessive, With Myelin
Outfolding)1
MTMR131 2 3 5     Myotubularin-Related Protein 132
DENND7B1 2     SET-Binding Factor 23
DENN/MADD Domain Containing 7B1 2     

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

Entrez Gene summary for SBF2:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.1  NT_009237.18  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for SBF2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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
Subcellular location: Cytoplasm. Membrane; Peripheral membrane protein. Note=Associated with membranes
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q86WG5

  • SBF2 Protein expression data from MOPED and PaxDb:    About this image 
    SBF2 Protein Expression
    REFSEQ proteins: NP_112224.1  
    ENSEMBL proteins: 
     ENSP00000256190   ENSP00000434620   ENSP00000432643   ENSP00000410478  

    Human Recombinant Protein Products for SBF2: 
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for SBF2

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

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

    SBF2 for ontologies           About GeneDecksing



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

    SBF2 for domains           About GeneDecksing

    5/9 InterPro domains/families (see all 9):
     IPR022096 SBF2
     IPR005112 dDENN_dom
     IPR017906 Myotubularin_phosphatase_dom
     IPR010569 Myotub-related
     IPR001849 Pleckstrin_homology

    Graphical View of Domain Structure for InterPro Entry Q86WG5

    ProtoNet protein and cluster: Q86WG5

    2 Blocks protein families:
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    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): 5/7 molecular function terms (GO ID links to tree view) (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 - Customizable classic, inducible, and humanized mouse model solutions for SBF2 

    miRNA
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    OriGene 3'-UTR Clone: SBF2
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SBF2
    8/45 QIAGEN miScript miRNA 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 siRNA: SBF2
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    Clone
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SBF2


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks 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): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0042552myelination NAS15998640
    GO:0051262protein tetramerization IEA--

    SBF2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 SBF2
    Search CenterWatch for drugs/clinical trials and news about SBF2 / MTMRD 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat SBF2
    8/45 QIAGEN miScript miRNA 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
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    Browse OriGene 29mer shRNA kits
    OriGene siRNA: SBF2
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    Sirion Biotech Custom design and validation of potent shRNA sequences against SBF2 
    Clone
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    GenScript: all cDNA clones in your preferred vector: SBF2 (NM_030962)
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    Primer
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    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for SBF2
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    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat SBF2
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SBF2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SBF2

    Additional cDNA 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 

    24/138 AceView cDNA sequences (see all 138):

    BQ774853 BM702128 AA598451 NM_030962 BM461560 AY234241 AI754979 BQ446647 
    H88098 AI831899 AL512756 Z44474 D79793 BX647533 CR611690 AA630746 
    BC063656 BC027492 BM664833 BM806984 AB051553 BQ720683 CR603765 BX644333 

    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™, 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

    SBF2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTAAACAGAA
    SBF2 Expression
    About this image
    See SBF2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SBF2

    SOURCE GeneReport for Unigene cluster: Hs.577252

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

        SABiosciences Custom PCR Arrays for SBF2
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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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for SBF2 gene from 8/25 species (see all 25)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves SBF21 SET binding factor 2 78.81(n)
    86.12(a)
      423043  NM_001012895.2  NP_001012913.2 
    lizard
    (Anolis carolinensis)
    Reptilia SBF26
    --
    88(a)
    1 ↔ 1
    1(63807826-63980799)
    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 51.87(n)
    45.84(a)
      41427  NM_169430.2  NP_731633.2 
    worm
    (Caenorhabditis elegans)
    Secernentea mtm-51 Protein MTM-5 42.66(n)
    31.03(a)
      180792  NM_076487.2  NP_508888.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G045406
    MTM16
    Myotubularin-like phosphatases II-like protein
    17(a)
    16(a)
    many ↔ many
    many ↔ many
    5(1296442-1302444)
    3(3292899-3298522)
    rice
    (Oryza sativa)
    Liliopsida --
    inositol or phosphatidylinositol phosphatase/ phos...
    16(a)
    1 → many
    8(27856282-27865603)


    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)
    About This Section
    Paralogs for SBF2 gene
    MTMR42  MTMR72  MTMR122  MTMR22  MTMR102  MTM12  MTMR82  MTMR32  
    MTMR92  MTMR62  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, UniProtKB, 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

    10/9124 NCBI SNPs in SBF2 are shown (see all 9124    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs794012591,2
    Cother91750782(+) CACGCA/GATCTG 2 R C mis10--------
    rs558052301,2
    C,F--9472275(+) GTGGTG/AGAATG 1 -- ds50012Minor allele frequency- A:0.50WA 4
    rs3601261,2
    C,F--9472628(-) AATTTA/CTNNNN 1 -- ut315Minor allele frequency- C:0.13WA CSA NA 244
    rs596135341,2
    F--9472834(+) GGCAAT/CTTATA 1 -- ut311Minor allele frequency- C:0.08WA 118
    rs601549611,2
    F--9472848(+) TGGAAA/GTGATA 1 -- ut311Minor allele frequency- G:0.08WA 118
    rs3601251,2
    C,F,H--9472932(-) AATTTA/CAAATT 1 -- ut317Minor allele frequency- C:0.01EA NS WA 716
    rs1146047501,2
    C,F--9473956(+) TGCCTG/AGGTGA 1 -- ut311Minor allele frequency- A:0.02WA 118
    rs79419861,2
    A--9474145(+) GGCCCC/TGGGAT 1 -- ut31 ese30--------
    rs412751941,2
    --9474196(+) TATCTA/GTCTGG 1 -- ut310--------
    rs79273241,2
    A--9474274(+) TGGATC/TTTGTC 2 K syn1 ese30--------

    HapMap Linkage Disequilibrium report for SBF2 (9800214 - 10050214 bp, first 250kb of SBF2)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 28 variations for SBF2
         15 CNVs: 48932 43835 61099 35031 48680 43812 101135 101134 39067 65864 0143 43267 85647 101133 48679
         13 Indels: 85648 33539 75538 33538 75540 85649 85645 85646 33235 75542 75539 48931 75541
    Human Gene Mutation Database (HGMD): SBF2

    Locus Specific Mutation Databases (LSDB): SBF2

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing SBF2
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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.)
    About This Section

    SBF2 for disorders           About GeneDecksing

    OMIM gene information: 607697   
    OMIM disorders: 604563  
    UniProtKB/Swiss-Prot: MTMRD_HUMAN, Q86WG5
  • Defects in SBF2 are the cause of Charcot-Marie-Tooth disease type 4B2 (CMT4B2) [MIM:604563]. CMT4B2 is a
  • recessive form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system.
    Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and
    histopathology: primary peripheral demyelinating neuropathy and primary peripheral axonal neuropathy. Demyelinating
    CMT 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. CMT4B2 is characterized by abnormal folding of myelin sheaths

    15 diseases for SBF2:    About MalaCards
    charcot-marie-tooth disease type 4b2    charcot-marie-tooth disease type 4    charcot-marie-tooth disease    charcot-marie-tooth neuropathy
    charcot-marie-tooth neuropathy type 4    charcot-marie-tooth neuropathy type 4b2    tooth disease    neuropathy
    early-onset glaucoma    centronuclear myopathy    axonal neuropathy    glaucoma
    peripheral neuropathy    myopathy    cholesterol

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

    5 Novoseek 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
    Charcot-Marie-Tooth Neuropathy Type 4

    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)
    About This Section

    PubMed articles for SBF2 gene, integrated from 9 sources (see all 33):
    (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. (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. (2005)
    3. SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma. (PubMed id 15304601)1, 2, 9 Hirano R....Arimura K. (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. (2003)
    5. A new SBF2 mutation in a family with recessive demyelinating Charcot- Marie-Tooth (CMT4B2). (PubMed id 15477569)1, 2 Conforti F.L.... Quattrone A. (2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. 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. (2000)
    8. 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. (1999)
    9. Genome-wide association study identifies two novel loci containing FLNB and SBF2 genes underlying stature variation. (PubMed id 19039035)1, 9 Lei S.F....Deng H.W. (2009)
    10. Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases. (PubMed id 17880751)1, 9 Previtali S.C....Bolino A. (2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 81846 HGNC: 2135 AceView: CMT4B2 Ensembl:ENSG00000133812 euGenes: HUgn81846
    ECgene: SBF2 H-InvDB: SBF2

    (According to HUGE)
    About This Section
    HUGE: KIAA1766

    (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 SBF2 Pharmacogenomics, SNPs, Pathways
    Inherited peripheral neuropathies mutation dbhttp://www.molgen.ua.ac.be/CMTMutations/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SBF2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SBF2 gene:
    Search GeneIP for patents involving SBF2

    GeneCards and IP:
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