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    Sbf2 SET binding factor 2 [ Mus musculus (house mouse) ]

    Gene ID: 319934, updated on 9-Dec-2024

    Summary

    Official Symbol
    Sbf2provided by MGI
    Official Full Name
    SET binding factor 2provided by MGI
    Primary source
    MGI:MGI:1921831
    See related
    Ensembl:ENSMUSG00000038371 AllianceGenome:MGI:1921831
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Mtmr13; mMTMH1; 4833411B01Rik; B430219L04Rik
    Summary
    Enables several functions, including identical protein binding activity; phosphatase binding activity; and phosphatase regulator activity. Predicted to be involved in autophagy. Located in vacuolar membrane. Is expressed in several structures, including central nervous system; genitourinary system; gut; heart; and sciatic nerve. Used to study Charcot-Marie-Tooth disease type 4B2. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 4B2. Orthologous to human SBF2 (SET binding factor 2). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Ubiquitous expression in CNS E18 (RPKM 16.7), whole brain E14.5 (RPKM 16.1) and 28 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See Sbf2 in Genome Data Viewer
    Location:
    7 E3; 7 57.7 cM
    Exon count:
    44
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (109907218..110215150, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (110308011..110614934, complement)

    Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene STARR-positive B cell enhancer ABC_E9296 Neighboring gene predicted gene, 32861 Neighboring gene 40S ribosomal protein S2 pseudogene Neighboring gene STARR-positive B cell enhancer ABC_E10462 Neighboring gene heterogeneous nuclear ribonucleoprotein A1 pseudogene Neighboring gene predicted gene 10087 Neighboring gene ribosomal protein S8, pseudogene 1 pseudogene Neighboring gene predicted gene, 46027 Neighboring gene STARR-positive B cell enhancer ABC_E6586 Neighboring gene STARR-seq mESC enhancer starr_19827 Neighboring gene predicted gene 28863 Neighboring gene STARR-seq mESC enhancer starr_19828 Neighboring gene adrenomedullin Neighboring gene STARR-seq mESC enhancer starr_19829 Neighboring gene STARR-seq mESC enhancer starr_19831 Neighboring gene predicted gene, 21123

    Genomic regions, transcripts, and products

    Expression

    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (2) 
    • Gene trapped (2)  1 citation

    Interactions

    General gene information

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    involved_in autophagy  
    Component Evidence Code Pubs
    located_in axon  
    is_active_in cytoplasm  
    located_in cytosol  
    located_in endosome membrane  
    is_active_in membrane  
    located_in membrane  
    located_in perinuclear region of cytoplasm  
    located_in vacuolar membrane PubMed 

    General protein information

    Preferred Names
    myotubularin-related protein 13
    Names
    inactive phosphatidylinositol 3-phosphatase 13
    myotubularin related protein 13
    myotubularin-related protein 5

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_001404387.1NP_001391316.1  myotubularin-related protein 13 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC122921, AC124472, AC154911
      UniProtKB/TrEMBL
      E9Q0D4
      Related
      ENSMUSP00000132072.2, ENSMUST00000164759.8
    2. NM_001404388.1NP_001391317.1  myotubularin-related protein 13 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC122921, AC154911
    3. NM_001404389.1NP_001391318.1  myotubularin-related protein 13 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC122921, AC154911
    4. NM_177324.3NP_796298.2  myotubularin-related protein 13 isoform 1

      Status: VALIDATED

      Source sequence(s)
      AC122921, AC124472, AC154911
      Consensus CDS
      CCDS52361.1
      UniProtKB/Swiss-Prot
      E9PXF8, E9Q305, Q8BJ67, Q8BJD2, Q8BJP4, Q91VH0
      UniProtKB/TrEMBL
      E9Q0D4
      Related
      ENSMUSP00000033058.8, ENSMUST00000033058.14
      Conserved Domains (7) summary
      smart00801
      Location:352420
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00800
      Location:187
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
      cd01235
      Location:17651870
      PH_Sbf1_hMTMR5; Set binding factor 1 (also called Human MTMR5) Pleckstrin Homology (PH) domain
      cd13339
      Location:880998
      PH-GRAM_MTMR13; Myotubularian (MTM) related 13 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam02141
      Location:116298
      DENN; DENN (AEX-3) domain
      pfam12335
      Location:531752
      SBF2; Myotubularin protein
      cl28904
      Location:11361508
      PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000073.7 Reference GRCm39 C57BL/6J

      Range
      109907218..110215150 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006507925.3XP_006507988.1  myotubularin-related protein 13 isoform X3

      UniProtKB/TrEMBL
      E9Q0D4
      Conserved Domains (7) summary
      smart00801
      Location:352420
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00800
      Location:187
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
      cd01235
      Location:17721877
      PH_Sbf1_hMTMR5; Set binding factor 1 (also called Human MTMR5) Pleckstrin Homology (PH) domain
      cd13339
      Location:880998
      PH-GRAM_MTMR13; Myotubularian (MTM) related 13 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam02141
      Location:116298
      DENN; DENN (AEX-3) domain
      pfam12335
      Location:531752
      SBF2; Myotubularin protein
      cl28904
      Location:11361515
      PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily
    2. XM_006507927.4XP_006507990.1  myotubularin-related protein 13 isoform X1

      UniProtKB/TrEMBL
      E9Q0D4
      Conserved Domains (7) summary
      smart00801
      Location:352420
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00800
      Location:187
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
      cd01235
      Location:17971902
      PH_Sbf1_hMTMR5; Set binding factor 1 (also called Human MTMR5) Pleckstrin Homology (PH) domain
      cd13339
      Location:880998
      PH-GRAM_MTMR13; Myotubularian (MTM) related 13 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam02141
      Location:116298
      DENN; DENN (AEX-3) domain
      pfam12335
      Location:531752
      SBF2; Myotubularin protein
      cl28904
      Location:11361540
      PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily
    3. XM_030242673.2XP_030098533.1  myotubularin-related protein 13 isoform X6

      UniProtKB/TrEMBL
      E9Q0D4
      Conserved Domains (7) summary
      smart00801
      Location:351419
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00800
      Location:186
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
      cd01235
      Location:17391844
      PH_Sbf1_hMTMR5; Set binding factor 1 (also called Human MTMR5) Pleckstrin Homology (PH) domain
      cd13339
      Location:879997
      PH-GRAM_MTMR13; Myotubularian (MTM) related 13 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam02141
      Location:115297
      DENN; DENN (AEX-3) domain
      pfam12335
      Location:530751
      SBF2; Myotubularin protein
      cl28904
      Location:11351482
      PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily
    4. XM_030242672.2XP_030098532.1  myotubularin-related protein 13 isoform X4

      UniProtKB/TrEMBL
      E9Q0D4
      Conserved Domains (7) summary
      smart00801
      Location:351419
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00800
      Location:186
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
      cd01235
      Location:17641869
      PH_Sbf1_hMTMR5; Set binding factor 1 (also called Human MTMR5) Pleckstrin Homology (PH) domain
      cd13339
      Location:879997
      PH-GRAM_MTMR13; Myotubularian (MTM) related 13 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam02141
      Location:115297
      DENN; DENN (AEX-3) domain
      pfam12335
      Location:530751
      SBF2; Myotubularin protein
      cl28904
      Location:11351507
      PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily
    5. XM_006507924.3XP_006507987.1  myotubularin-related protein 13 isoform X2

      UniProtKB/TrEMBL
      E9Q0D4
      Conserved Domains (7) summary
      smart00801
      Location:351419
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00800
      Location:186
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
      cd01235
      Location:17961901
      PH_Sbf1_hMTMR5; Set binding factor 1 (also called Human MTMR5) Pleckstrin Homology (PH) domain
      cd13339
      Location:879997
      PH-GRAM_MTMR13; Myotubularian (MTM) related 13 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam02141
      Location:115297
      DENN; DENN (AEX-3) domain
      pfam12335
      Location:530751
      SBF2; Myotubularin protein
      cl28904
      Location:11351539
      PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily
    6. XM_011241830.3XP_011240132.1  myotubularin-related protein 13 isoform X7

      UniProtKB/TrEMBL
      E9Q0D4
      Conserved Domains (6) summary
      smart00801
      Location:108176
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      cd01235
      Location:15531658
      PH_Sbf1_hMTMR5; Set binding factor 1 (also called Human MTMR5) Pleckstrin Homology (PH) domain
      cd13339
      Location:636754
      PH-GRAM_MTMR13; Myotubularian (MTM) related 13 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam12335
      Location:287508
      SBF2; Myotubularin protein
      cl11519
      Location:154
      DENN; DENN (AEX-3) domain
      cl28904
      Location:8921296
      PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily

    RNA

    1. XR_001785572.3 RNA Sequence

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