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    SFMBT2 Scm like with four mbt domains 2 [ Homo sapiens (human) ]

    Gene ID: 57713, updated on 28-Oct-2024

    Summary

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    Official Symbol
    SFMBT2provided by HGNC
    Official Full Name
    Scm like with four mbt domains 2provided by HGNC
    Primary source
    HGNC:HGNC:20256
    See related
    Ensembl:ENSG00000198879 MIM:615392; AllianceGenome:HGNC:20256
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    Enables histone binding activity. Involved in negative regulation of gene expression. Located in aggresome; cytosol; and nuclear speck. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Ubiquitous expression in thyroid (RPKM 4.8), ovary (RPKM 4.5) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See SFMBT2 in Genome Data Viewer
    Location:
    10p14
    Exon count:
    29
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 10 NC_000010.11 (7158624..7411490, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 10 NC_060934.1 (7158401..7411442, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (7200586..7453452, complement)

    Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:6835894-6836851 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:6836852-6837808 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr10:6838766-6839721 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:6843478-6844062 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:6844063-6844646 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr10:6844647-6845230 Neighboring gene long intergenic non-protein coding RNA 707 Neighboring gene uncharacterized LOC105376387 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:6874691-6875192 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr10:6875193-6875692 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:6918964-6919464 Neighboring gene NANOG hESC enhancer GRCh37_chr10:6952013-6952514 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2970 Neighboring gene nonconserved acetylation island sequence 45 enhancer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:6975635-6976834 Neighboring gene NANOG hESC enhancer GRCh37_chr10:6995095-6995596 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:7014138-7015337 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16768 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_16971 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2110 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:7117931-7118110 Neighboring gene NANOG hESC enhancer GRCh37_chr10:7124870-7125371 Neighboring gene long intergenic non-protein coding RNA 2665 Neighboring gene Sharpr-MPRA regulatory region 5095 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:7212385-7212885 Neighboring gene small nucleolar RNA, C/D box 129 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr10:7298769-7299968 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2972 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:7371119-7371620 Neighboring gene cytochrome c oxidase subunit 6C pseudogene 17 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2973 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2974 Neighboring gene uncharacterized LOC124902372 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr10:7403871-7405070 Neighboring gene H3K27ac hESC enhancer GRCh37_chr10:7407161-7407660 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:7449871-7450766 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2975 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2112 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:7453245-7454165 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:7454166-7455085 Neighboring gene uncharacterized LOC124902373 Neighboring gene ReSE screen-validated silencer GRCh37_chr10:7487564-7487770 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr10:7488827-7489326 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2977 Neighboring gene NANOG hESC enhancer GRCh37_chr10:7500249-7500813 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2978 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2979 Neighboring gene long intergenic non-protein coding RNA 2642

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. [Effects of circ-SFMBT2 on Proliferation, Migration and Invasion of Acute Myeloid Leukemia Cells by Regulating miR-491-5p/HOXA9 Axis]. Li Y, et al. Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2023 Dec. PMID 38071034
    2. Acetylation- and ubiquitination-regulated SFMBT2 acts as a tumor suppressor in clear cell renal cell carcinoma. Xie Q, et al. Biol Direct, 2024 May 11. PMID 38734627, Free PMC Article
    3. SFMBT2 (Scm-like with four mbt domains 2) negatively regulates cell migration and invasion in prostate cancer cells. Gwak J, et al. Oncotarget, 2016 Jul 26. PMID 27340776, Free PMC Article
    4. CircSFMBT2 facilitates vascular smooth muscle cell proliferation by targeting miR-331-3p/HDAC5. Luo Y, et al. Life Sci, 2021 Jan 1. PMID 33166591
    5. Down-regulated in OA cartilage, SFMBT2 contributes to NF-κB-mediated ECM degradation. Hussain S, et al. J Cell Mol Med, 2018 Nov. PMID 30133133, Free PMC Article

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Acetylation- and ubiquitination-regulated SFMBT2 acts as a tumor suppressor in clear cell renal cell carcinoma.
      Title: Acetylation- and ubiquitination-regulated SFMBT2 acts as a tumor suppressor in clear cell renal cell carcinoma.
    2. [Effects of circ-SFMBT2 on Proliferation, Migration and Invasion of Acute Myeloid Leukemia Cells by Regulating miR-491-5p/HOXA9 Axis].
      Title: [Effects of circ-SFMBT2 on Proliferation, Migration and Invasion of Acute Myeloid Leukemia Cells by Regulating miR-491-5p/HOXA9 Axis].
    3. Circ-SFMBT2 facilitates the malignant growth of acute myeloid leukemia cells by modulating miR-582-3p/ZBTB20 pathway.
      Title: Circ-SFMBT2 facilitates the malignant growth of acute myeloid leukemia cells by modulating miR-582-3p/ZBTB20 pathway.
    4. Circular RNA SFMBT2 Inhibits the Proliferation and Metastasis of Glioma Cells Through Mir-182-5p/Mtss1 Pathway.
      Title: Circular RNA SFMBT2 Inhibits the Proliferation and Metastasis of Glioma Cells Through Mir-182-5p/Mtss1 Pathway.
    5. CircSFMBT2 facilitates vascular smooth muscle cell proliferation by targeting miR-331-3p/HDAC5.
      Title: CircSFMBT2 facilitates vascular smooth muscle cell proliferation by targeting miR-331-3p/HDAC5.
    6. we revealed that SFMBT2 intervention by siRNA contributed to the catabolic phenotype of human chondrocytes mediated by NF-kB pathway.
      Title: Down-regulated in OA cartilage, SFMBT2 contributes to NF-κB-mediated ECM degradation.
    7. The present study identified Scmlike with four malignant brain tumor domains 2 (SFMBT2) as a novel regulator of SOX9 expression.
      Title: SFMBT2 positively regulates SOX9 and chondrocyte proliferation.
    8. Findings suggest that regulation of SFMBT2 may provide a new therapeutic strategy to control prostate cancer metastasis as well as being a potential biomarker of metastatic prostate cancer.
      Title: SFMBT2 (Scm-like with four mbt domains 2) negatively regulates cell migration and invasion in prostate cancer cells.
    9. SFMBT2 may regulate cell growth via epigenetic regulation of HOXB13 gene expression in prostate cancer cells.
      Title: Regulation of DU145 prostate cancer cell growth by Scm-like with four mbt domains 2.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables chromatin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables histone binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables histone binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription corepressor activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in negative regulation of DNA-templated transcription IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in negative regulation of gene expression IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in aggresome IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nuclear speck IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    scm-like with four MBT domains protein 2
    Names
    Scm-related gene containing four mbt domains 2
    scm-like with 4 MBT domains protein 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001018039.1 → NP_001018049.1  scm-like with four MBT domains protein 2 isoform 1

      See identical proteins and their annotated locations for NP_001018049.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AB046837, AL138771, AL590095
      Consensus CDS
      CCDS31138.1
      UniProtKB/Swiss-Prot
      A7MD09, Q5VUG0, Q9HCF5
      UniProtKB/TrEMBL
      A0A669KBL2
      Related
      ENSP00000355109.4, ENST00000361972.8
      Conserved Domains (3) summary
      cd09581
      Location:810 → 894
      SAM_Scm-like-4MBT1,2; SAM domain of Scm-like-4MBT1,2 proteins of Polycomb group
      smart00561
      Location:48 → 144
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      pfam12140
      Location:528 → 643
      SLED; SLED domain

    2. NM_001029880.3 → NP_001025051.1  scm-like with four MBT domains protein 2 isoform 1

      See identical proteins and their annotated locations for NP_001025051.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Variants 1 and 2 both encode the same protein.
      Source sequence(s)
      AB046837, AL138771, AL139125, AL590095, DA152101
      Consensus CDS
      CCDS31138.1
      UniProtKB/Swiss-Prot
      A7MD09, Q5VUG0, Q9HCF5
      UniProtKB/TrEMBL
      A0A669KBL2
      Related
      ENSP00000507767.1, ENST00000683762.1
      Conserved Domains (3) summary
      cd09581
      Location:810 → 894
      SAM_Scm-like-4MBT1,2; SAM domain of Scm-like-4MBT1,2 proteins of Polycomb group
      smart00561
      Location:48 → 144
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      pfam12140
      Location:528 → 643
      SLED; SLED domain

    3. NM_001387889.1 → NP_001374818.1  scm-like with four MBT domains protein 2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL138771, AL139125, AL158046, AL590095
      Consensus CDS
      CCDS31138.1
      UniProtKB/Swiss-Prot
      A7MD09, Q5VUG0, Q9HCF5
      UniProtKB/TrEMBL
      A0A669KBL2
      Related
      ENSP00000380353.1, ENST00000397167.6
      Conserved Domains (3) summary
      cd09581
      Location:810 → 894
      SAM_Scm-like-4MBT1,2; SAM domain of Scm-like-4MBT1,2 proteins of Polycomb group
      smart00561
      Location:48 → 144
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      pfam12140
      Location:528 → 643
      SLED; SLED domain

    4. NM_001387890.1 → NP_001374819.1  scm-like with four MBT domains protein 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AL138771, AL139125, AL158046, AL590095
      UniProtKB/TrEMBL
      A0A804HLD5
      Conserved Domains (3) summary
      cd09581
      Location:558 → 642
      SAM_Scm-like-4MBT1,2; SAM domain of Scm-like-4MBT1,2 proteins of Polycomb group
      smart00561
      Location:132 → 225
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      pfam12140
      Location:276 → 391
      SLED; SLED domain

    5. NM_001387891.1 → NP_001374820.1  scm-like with four MBT domains protein 2 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AL138771, AL139125, AL158046, AL590095
      Consensus CDS
      CCDS31138.1
      UniProtKB/Swiss-Prot
      A7MD09, Q5VUG0, Q9HCF5
      UniProtKB/TrEMBL
      A0A669KBL2
      Conserved Domains (3) summary
      cd09581
      Location:810 → 894
      SAM_Scm-like-4MBT1,2; SAM domain of Scm-like-4MBT1,2 proteins of Polycomb group
      smart00561
      Location:48 → 144
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      pfam12140
      Location:528 → 643
      SLED; SLED domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000010.11 Reference GRCh38.p14 Primary Assembly

      Range
      7158624..7411490 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047425568.1 → XP_047281524.1  scm-like with four MBT domains protein 2 isoform X1

      UniProtKB/Swiss-Prot
      A7MD09, Q5VUG0, Q9HCF5

    2. XM_047425567.1 → XP_047281523.1  scm-like with four MBT domains protein 2 isoform X1

      UniProtKB/Swiss-Prot
      A7MD09, Q5VUG0, Q9HCF5

    3. XM_047425570.1 → XP_047281526.1  scm-like with four MBT domains protein 2 isoform X3

    4. XM_006717490.2 → XP_006717553.1  scm-like with four MBT domains protein 2 isoform X2

      UniProtKB/TrEMBL
      A0A804HLD5
      Conserved Domains (4) summary
      cd09581
      Location:641 → 725
      SAM_Scm-like-4MBT1,2; SAM domain of Scm-like-4MBT1,2 proteins of Polycomb group
      smart00454
      Location:652 → 716
      SAM; Sterile alpha motif
      smart00561
      Location:215 → 308
      MBT; Present in Drosophila Scm, l(3)mbt, and vertebrate SCML2
      pfam12140
      Location:359 → 474
      DUF3588; Protein of unknown function (DUF3588)

    5. XM_047425569.1 → XP_047281525.1  scm-like with four MBT domains protein 2 isoform X2

    6. XM_047425573.1 → XP_047281529.1  scm-like with four MBT domains protein 2 isoform X3

    7. XM_047425571.1 → XP_047281527.1  scm-like with four MBT domains protein 2 isoform X4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060934.1 Alternate T2T-CHM13v2.0

      Range
      7158401..7411442 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054366434.1 → XP_054222409.1  scm-like with four MBT domains protein 2 isoform X1

      UniProtKB/Swiss-Prot
      A7MD09, Q5VUG0, Q9HCF5

    2. XM_054366433.1 → XP_054222408.1  scm-like with four MBT domains protein 2 isoform X1

      UniProtKB/Swiss-Prot
      A7MD09, Q5VUG0, Q9HCF5

    3. XM_054366437.1 → XP_054222412.1  scm-like with four MBT domains protein 2 isoform X3

    4. XM_054366435.1 → XP_054222410.1  scm-like with four MBT domains protein 2 isoform X2

    5. XM_054366436.1 → XP_054222411.1  scm-like with four MBT domains protein 2 isoform X2

    6. XM_054366439.1 → XP_054222414.1  scm-like with four MBT domains protein 2 isoform X3

    7. XM_054366438.1 → XP_054222413.1  scm-like with four MBT domains protein 2 isoform X4

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_020953.1: Suppressed sequence

      Description
      NM_020953.1: This RefSeq record was removed by NCBI staff. Contact info@ncbi.nlm.nih.gov for further information.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5VUG0.1 GenPept UniProtKB/Swiss-Prot:Q5VUG0

    Gene LinkOut

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