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

SFMBT2 Gene

protein-coding   GIFtS: 44
GCID: GC10M007244

Scm-Like With Four Mbt Domains 2

(Previous name: Scm-related gene containing four mbt domains 2)
  Search for SFMBT2
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
Scm-Like With Four Mbt Domains 21 2
Scm-Related Gene Containing Four Mbt Domains 21 2
Scm-Like With Four MBT Domains Protein 22
KIAA16173

External Ids:    HGNC: 202561   Entrez Gene: 577132   Ensembl: ENSG000001988797   OMIM: 6153925   UniProtKB: Q5VUG03   

Export aliases for SFMBT2 gene to outside databases

Previous GC identifers: GC10M007354 GC10M007208


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

GeneCards Summary for SFMBT2 Gene: 
SFMBT2 (Scm-like with four mbt domains 2) is a protein-coding gene. An important paralog of this gene is L3MBTL1.


(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_000010.10  NT_008705.16  NC_018921.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the SFMBT2 gene promoter:
         Max1   c-Fos   Sox5   AP-1   Hand1   c-Jun   LyF-1   c-Myc   E47   YY1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSFMBT2 promoter sequence
   Search SABiosciences Chromatin IP Primers for SFMBT2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat SFMBT2


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

Entrez Gene cytogenetic band: 10p14   Ensembl cytogenetic band:  10p14   HGNC cytogenetic band: 10p15.1

SFMBT2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
SFMBT2 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M007244:  view genomic region     (about GC identifiers)

Start:
7,200,586 bp from pter      End:
7,453,450 bp from pter
Size:
252,865 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: SMBT2_HUMAN, Q5VUG0 (See protein sequence)
Recommended Name: Scm-like with four MBT domains protein 2  
Size: 894 amino acids; 100563 Da
Sequence caution: Sequence=BAB13443.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for SFMBT2:
1WJR (3D)    
Secondary accessions: A7MD09 Q9HCF5

Explore the universe of human proteins at neXtProt for SFMBT2: NX_Q5VUG0

Explore proteomics data for SFMBT2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5VUG0

  • SFMBT2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    SFMBT2 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001018049.1  NP_001025051.1  

    ENSEMBL proteins: 
     ENSP00000355109   ENSP00000369035   ENSP00000369033   ENSP00000380353   ENSP00000380346  

    Human Recombinant Protein Products for SFMBT2: 
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    Cloud-Clone Corp. Proteins for SFMBT2 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--

    SFMBT2 for ontologies           About GeneDecksing



    SFMBT2 Antibody Products: 
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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: 
    SAMD: Sterile alpha motif (SAM) domain containing

    5 InterPro protein domains:
     IPR004092 Mbt
     IPR013761 SAM/pointed
     IPR001660 SAM
     IPR021129 SAM_type1
     IPR021987 DUF3588

    Graphical View of Domain Structure for InterPro Entry Q5VUG0

    ProtoNet protein and cluster: Q5VUG0

    2 Blocks protein domains:
    IPB001660 Sterile alpha motif SAM
    IPB011510 Sterile alpha motif homology 2


    UniProtKB/Swiss-Prot: SMBT2_HUMAN, Q5VUG0
    Similarity: Contains 4 MBT repeats
    Similarity: Contains 1 SAM (sterile alpha motif) domain


    SFMBT2 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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005488binding ----
    GO:0005515protein binding IPI--
    GO:0042393histone binding IDA--
    GO:0043565sequence-specific DNA binding ----
         
    SFMBT2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for SFMBT2:
     Synthetic lethal with c-Myc af 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for SFMBT2 
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    SwitchGear 3'UTR luciferase reporter plasmidSFMBT2 3' UTR sequence
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for SFMBT2

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006355regulation of transcription, DNA-dependent IEA--
    GO:0010629negative regulation of gene expression IDA--

    SFMBT2 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 SFMBT2 (SMBT2)

    Search CenterWatch for drugs/clinical trials and news about SFMBT2 / SMBT2

    (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 SFMBT2 gene (2 alternative transcripts): 
    NM_001018039.1  NM_001029880.2  

    Unigene Cluster for SFMBT2:

    Scm-like with four mbt domains 2
    Hs.407983  [show with all ESTs]
    Unigene Representative Sequence: NM_001029880
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000361972(uc009xio.2 uc001ijn.2 uc010qay.2) ENST00000379713(uc001ijo.2)
    ENST00000379711 ENST00000397167 ENST00000397160
    miRNA
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    8/68 QIAGEN miScript miRNA Assays for microRNAs that regulate SFMBT2 (see all 68):
    hsa-miR-579 hsa-miR-548j hsa-miR-607 hsa-miR-4272 hsa-miR-938 hsa-miR-128 hsa-miR-219-5p hsa-miR-371-5p
    SwitchGear 3'UTR luciferase reporter plasmidSFMBT2 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat SFMBT2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat SFMBT2

    Additional mRNA sequence: 

    AB046837.1 AK057130.1 AK090887.1 BC067242.1 BC144327.1 BC152430.1 

    6 DOTS entries:

    DT.447066  DT.91752573  DT.95257618  DT.100653043  DT.40226939  DT.100709544 

    24/73 AceView cDNA sequences (see all 73):

    BQ447209 F12468 AA844438 AA810182 AA844081 AA687507 AA687450 AB046837 
    BX111766 AI273492 AI565269 AA573305 AA370564 AA854762 BQ338003 BQ430508 
    AW337774 AW269652 AA908253 CD370216 AW297182 AI199921 BX116934 AI817687 

    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

    SFMBT2 expression in normal human tissues (normalized intensities)      SFMBT2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGAACCTTAA
    SFMBT2 Expression
    About this image


    SFMBT2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Thymus (Hematopoietic System)
             T Helper Cells Thymus
     
     Blood (Cardiovascular System)
             T Helper Cells Thymus
     
     Eye (Sensory Organs)
             Glycinergic Amacrine Cells Inner Nuclear Layer
     
     Placenta (Extraembryonic Tissues)

    See SFMBT2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for SFMBT2

    SOURCE GeneReport for Unigene cluster: Hs.407983
        SABiosciences Custom PCR Arrays for SFMBT2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for SFMBT2

    (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 SFMBT2 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Sfmbt21 , 5 Scm-like with four mbt domains 21, 5 78.7(n)1
    76.04(a)1
      2 (7.81 cM)5
    3532821  NM_001198808.11  NP_001185737.11 
     103705105 
    chicken
    (Gallus gallus)
    Aves SFMBT21 Scm-like with four mbt domains 2 78.68(n)
    84.58(a)
      425485  XM_003640330.1  XP_003640378.1 
    lizard
    (Anolis carolinensis)
    Reptilia SFMBT26
    Scm-like with four mbt domains 2
    73(a)
    1 ↔ 1
    5(363720-440166)
    zebrafish
    (Danio rerio)
    Actinopterygii sfmbt21 Scm-like with four mbt domains 2 63.26(n)
    65.16(a)
      555450  XM_677950.4  XP_683042.4 
    worm
    (Caenorhabditis elegans)
    Secernentea mbtr-16
    lin-616
    Protein lin-61
    16(a)
    15(a)
    many ↔ many
    many ↔ many
    I(343250-348364)
    I(7248828-7251282)


    ENSEMBL Gene Tree for SFMBT2 (if available)
    TreeFam Gene Tree for SFMBT2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for SFMBT2 gene
    L3MBTL12  L3MBTL22  SCML42  L3MBTL32  SFMBT12  SCML12  L3MBTL42  SCMH12  
    SCML22  MBTD12  
    8 SIMAP similar genes for SFMBT2 using alignment to 3 protein entries:     SMBT2_HUMAN (see all proteins):
    SFMBT1    HPH1    SAMD13    L3MBTL2    L3MBTL3    L3MBTL1
    SCMH1    L3MBTL4

    SFMBT2 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

    10/5841 SNPs in SFMBT2 are shown (see all 5841)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1411888311,2
    --7200167(+) TCCCAA/GCTTCA 2 -- ds50010--------
    rs769884451,2
    C,F--7200250(+) ATAGTA/GATAAA 2 -- ds50011Minor allele frequency- G:0.03NA 120
    rs1808070711,2
    --7200296(+) ATAACA/GGAAAT 2 -- ds50010--------
    rs785124631,2
    F--7200304(+) AATGAT/CTGAAA 2 -- ds50011Minor allele frequency- C:0.01WA 118
    rs1451234891,2
    C--7200452(+) GAGCCA/GTGGTC 2 -- ds50010--------
    rs1475749741,2
    --7200458(+) TGGTCA/GTTAAC 2 -- ds50010--------
    rs1858377061,2
    --7200536(+) CAGACA/GCTAAA 2 -- ds50010--------
    rs1419391751,2
    --7200543(+) TAAAGA/GTAATA 2 -- ds50010--------
    rs412890771,2
    C,F--7200632(+) TTTTTG/CAAGTA 2 -- ut312Minor allele frequency- C:0.50NA 4
    rs1113089191,2
    F--7200774(+) TTTCAG/AAAGTA 2 -- ut311Minor allele frequency- A:0.50CSA 2

    HapMap Linkage Disequilibrium report for SFMBT2 (7200586 - 7450586 bp, first 250kb of SFMBT2)

    Structural Variations
         Database of Genomic Variants (DGV) 10/18 variations for SFMBT2 (see all 18):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2732251CNV Deletion23290073
    esv2669338CNV Deletion23128226
    esv2732228CNV Deletion23290073
    esv2234111CNV Deletion18987734
    esv2732239CNV Deletion23290073
    esv2732217CNV Deletion23290073
    esv1259186CNV Deletion17803354
    nsv5731CNV Insertion18451855
    esv1635316CNV Insertion17803354
    nsv517524CNV Loss19592680

    SABiosciences Cancer Mutation PCR Assays
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    (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

    SFMBT2 for disorders           About MalaCards
    OMIM gene information: 615392    OMIM disorders: --


    SFMBT2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): SFMBT2

    Export disorders for SFMBT2 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 SFMBT2 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with SFMBT2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10997877)1, 2, 3 Nagase T.... Ohara O. (2000)
    2. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (2004)
    3. Regulation of DU145 prostate cancer cell growth by Scm -like with four mbt domains 2. (PubMed id 23385818)1 Lee K....Ju B.G. (2013)
    4. A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resi stance. (PubMed id 22581228)1 Manning A.K....Langenberg C. (2012)
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    8. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 57713 HGNC: 20256 AceView: SFMBT2 Ensembl:ENSG00000198879 euGenes: HUgn57713
    ECgene: SFMBT2 H-InvDB: SFMBT2

    (According to HUGE)
    About This Section
    HUGE: KIAA1617

    (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 SFMBT2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for SFMBT2 gene:
    Search GeneIP for patents involving SFMBT2

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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