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    Sbf2 SET binding factor 2 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 691042, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Sbf2provided by RGD
    Official Full Name
    SET binding factor 2provided by RGD
    Primary source
    RGD:1588657
    See related
    EnsemblRapid:ENSRNOG00000009812 AllianceGenome:RGD:1588657
    Gene type
    protein coding
    RefSeq status
    PROVISIONAL
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    Mtmr13; RGD1559442
    Summary
    Predicted to enable several functions, including guanyl-nucleotide exchange factor activity; identical protein binding activity; and phosphatase binding activity. Predicted to be located in vacuolar membrane. Predicted to be active in cytoplasm and membrane. 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
    Biased expression in Adrenal (RPKM 203.9), Lung (RPKM 177.6) and 9 other tissues See more
    Orthologs
    human mouse all
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    Genomic context

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    See Sbf2 in Genome Data Viewer
    Location:
    1q33
    Exon count:
    45
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) 1 NC_086019.1 (173787638..174154589, complement)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) 1 NC_051336.1 (164352892..164719883, complement)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) 1 NC_005100.4 (174948361..175420161, complement)

    Chromosome 1 - NC_086019.1Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 1168 Neighboring gene WEE1 G2 checkpoint kinase Neighboring gene switching B-cell complex subunit SWAP70 Neighboring gene N-lysine methyltransferase KMT5A-like Neighboring gene Y box binding protein 1, pseudogene 18 Neighboring gene lysine methyltransferase 5A, pseudogene 1 Neighboring gene uncharacterized LOC120097354 Neighboring gene karyopherin subunit alpha 1, pseudogene 9 Neighboring gene adrenomedullin

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    Bibliography

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    Related articles in PubMed

    1. The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease. Robinson FL, et al. J Biol Chem, 2005 Sep 9. PMID 15998640
    2. Multi-level regulation of myotubularin-related protein-2 phosphatase activity by myotubularin-related protein-13/set-binding factor-2. Berger P, et al. Hum Mol Genet, 2006 Feb 15. PMID 16399794
    3. Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors. Yoshimura S, et al. J Cell Biol, 2010 Oct 18. PMID 20937701, Free PMC Article
    4. Gene and alternative splicing annotation with AIR. Florea L, et al. Genome Res, 2005 Jan. PMID 15632090, Free PMC Article
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, et al. Proc Natl Acad Sci U S A, 2002 Dec 24. PMID 12477932, Free PMC Article

    See all (6) citations in PubMed

    GeneRIFs: Gene References Into Functions

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC188607

    Gene Ontology Provided by RGD

    Function Evidence Code Pubs
    enables guanyl-nucleotide exchange factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables guanyl-nucleotide exchange factor activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables phosphatase binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables phosphatase regulator activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables phosphatidylinositol binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in membrane ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in vacuolar membrane ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    myotubularin-related protein 13

    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_001134970.1 → NP_001128442.1  myotubularin-related protein 13

      Status: PROVISIONAL

      Source sequence(s)
      BC168698
      UniProtKB/TrEMBL
      A6I814, B5DEJ9, F1LRC0
      Related
      ENSRNOP00000013126.6, ENSRNOT00000013126.9
      Conserved Domains (8) summary
      smart00801
      Location:305 → 373
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00800
      Location:1 → 47
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
      cd01235
      Location:1719 → 1824
      PH_Sbf1_hMTMR5; Set binding factor 1 (also called Human MTMR5) Pleckstrin Homology (PH) domain
      cd13339
      Location:834 → 952
      PH-GRAM_MTMR13; Myotubularian (MTM) related 13 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam00169
      Location:1724 → 1824
      PH; PH domain
      pfam02141
      Location:69 → 251
      DENN; DENN (AEX-3) domain
      pfam06602
      Location:1068 → 1496
      Myotub-related; Myotubularin-like phosphatase domain
      pfam12335
      Location:484 → 706
      SBF2; Myotubularin protein

    RefSeqs of Annotated Genomes: GCF_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086019.1 Reference GRCr8

      Range
      173787638..174154589 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_039091527.2 → XP_038947455.1  myotubularin-related protein 13 isoform X3

      UniProtKB/TrEMBL
      A6I814
      Conserved Domains (7) summary
      smart00801
      Location:351 → 419
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00800
      Location:1 → 86
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
      cd01235
      Location:1774 → 1879
      PH_Sbf1_hMTMR5; Set binding factor 1 (also called Human MTMR5) Pleckstrin Homology (PH) domain
      cd13339
      Location:857 → 975
      PH-GRAM_MTMR13; Myotubularian (MTM) related 13 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam02141
      Location:115 → 297
      DENN; DENN (AEX-3) domain
      pfam12335
      Location:530 → 729
      SBF2; Myotubularin protein
      cl28904
      Location:1113 → 1517
      PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily

    2. XM_008759798.4 → XP_008758020.1  myotubularin-related protein 13 isoform X2

      UniProtKB/TrEMBL
      A6I814
      Conserved Domains (8) summary
      smart00801
      Location:351 → 419
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00800
      Location:1 → 86
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
      cd01235
      Location:1796 → 1901
      PH_Sbf1_hMTMR5; Set binding factor 1 (also called Human MTMR5) Pleckstrin Homology (PH) domain
      cd13339
      Location:879 → 997
      PH-GRAM_MTMR13; Myotubularian (MTM) related 13 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam00169
      Location:1801 → 1901
      PH; PH domain
      pfam02141
      Location:115 → 297
      DENN; DENN (AEX-3) domain
      pfam06602
      Location:1113 → 1573
      Myotub-related; Myotubularin-like phosphatase domain
      pfam12335
      Location:530 → 751
      SBF2; Myotubularin protein

    3. XM_063274831.1 → XP_063130901.1  myotubularin-related protein 13 isoform X8

      UniProtKB/TrEMBL
      A6I814

    4. XM_008759801.4 → XP_008758023.1  myotubularin-related protein 13 isoform X6

      UniProtKB/TrEMBL
      A6I814
      Conserved Domains (8) summary
      smart00801
      Location:351 → 419
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00800
      Location:1 → 86
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
      cd01235
      Location:1764 → 1869
      PH_Sbf1_hMTMR5; Set binding factor 1 (also called Human MTMR5) Pleckstrin Homology (PH) domain
      cd13339
      Location:879 → 997
      PH-GRAM_MTMR13; Myotubularian (MTM) related 13 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam00169
      Location:1769 → 1869
      PH; PH domain
      pfam02141
      Location:115 → 297
      DENN; DENN (AEX-3) domain
      pfam06602
      Location:1113 → 1541
      Myotub-related; Myotubularin-like phosphatase domain
      pfam12335
      Location:530 → 751
      SBF2; Myotubularin protein

    5. XM_008759804.4 → XP_008758026.1  myotubularin-related protein 13 isoform X7

      UniProtKB/TrEMBL
      A0A0G2K1T3, A6I814
      Related
      ENSRNOP00000071975.2, ENSRNOT00000077125.3
      Conserved Domains (8) summary
      smart00801
      Location:351 → 419
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00800
      Location:1 → 86
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
      cd01235
      Location:1740 → 1845
      PH_Sbf1_hMTMR5; Set binding factor 1 (also called Human MTMR5) Pleckstrin Homology (PH) domain
      cd13339
      Location:880 → 998
      PH-GRAM_MTMR13; Myotubularian (MTM) related 13 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam00169
      Location:1745 → 1845
      PH; PH domain
      pfam02141
      Location:115 → 297
      DENN; DENN (AEX-3) domain
      pfam06602
      Location:1114 → 1517
      Myotub-related; Myotubularin-like phosphatase domain
      pfam12335
      Location:530 → 752
      SBF2; Myotubularin protein

    6. XM_008759800.4 → XP_008758022.1  myotubularin-related protein 13 isoform X5

      UniProtKB/TrEMBL
      A0A8I6A7K6, A6I814
      Related
      ENSRNOP00000089161.1, ENSRNOT00000108689.2
      Conserved Domains (8) summary
      smart00801
      Location:351 → 419
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00800
      Location:1 → 86
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
      cd01235
      Location:1765 → 1870
      PH_Sbf1_hMTMR5; Set binding factor 1 (also called Human MTMR5) Pleckstrin Homology (PH) domain
      cd13339
      Location:880 → 998
      PH-GRAM_MTMR13; Myotubularian (MTM) related 13 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam00169
      Location:1770 → 1870
      PH; PH domain
      pfam02141
      Location:115 → 297
      DENN; DENN (AEX-3) domain
      pfam06602
      Location:1114 → 1542
      Myotub-related; Myotubularin-like phosphatase domain
      pfam12335
      Location:530 → 752
      SBF2; Myotubularin protein

    7. XM_008759799.4 → XP_008758021.1  myotubularin-related protein 13 isoform X4

      UniProtKB/TrEMBL
      A0A8I6AIY9, A6I814
      Related
      ENSRNOP00000095074.1, ENSRNOT00000107066.2
      Conserved Domains (8) summary
      smart00801
      Location:351 → 419
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00800
      Location:1 → 86
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
      cd01235
      Location:1772 → 1877
      PH_Sbf1_hMTMR5; Set binding factor 1 (also called Human MTMR5) Pleckstrin Homology (PH) domain
      cd13339
      Location:880 → 998
      PH-GRAM_MTMR13; Myotubularian (MTM) related 13 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam00169
      Location:1777 → 1877
      PH; PH domain
      pfam02141
      Location:115 → 297
      DENN; DENN (AEX-3) domain
      pfam06602
      Location:1114 → 1549
      Myotub-related; Myotubularin-like phosphatase domain
      pfam12335
      Location:530 → 752
      SBF2; Myotubularin protein

    8. XM_008759797.4 → XP_008758019.1  myotubularin-related protein 13 isoform X1

      UniProtKB/TrEMBL
      A0A8I6A009, A6I814
      Related
      ENSRNOP00000083800.1, ENSRNOT00000107654.2
      Conserved Domains (8) summary
      smart00801
      Location:351 → 419
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00800
      Location:1 → 86
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
      cd01235
      Location:1797 → 1902
      PH_Sbf1_hMTMR5; Set binding factor 1 (also called Human MTMR5) Pleckstrin Homology (PH) domain
      cd13339
      Location:880 → 998
      PH-GRAM_MTMR13; Myotubularian (MTM) related 13 protein Pleckstrin Homology-Glucosyltransferases, Rab-like GTPase activators and Myotubularins (PH-GRAM) domain
      pfam00169
      Location:1802 → 1902
      PH; PH domain
      pfam02141
      Location:115 → 297
      DENN; DENN (AEX-3) domain
      pfam06602
      Location:1114 → 1574
      Myotub-related; Myotubularin-like phosphatase domain
      pfam12335
      Location:530 → 752
      SBF2; Myotubularin protein

    9. XM_063274832.1 → XP_063130902.1  myotubularin-related protein 13 isoform X9

    10. XM_063274834.1 → XP_063130904.1  myotubularin-related protein 13 isoform X10

    11. XM_039091530.2 → XP_038947458.1  myotubularin-related protein 13 isoform X10

      Conserved Domains (6) summary
      smart00801
      Location:351 → 419
      dDENN; Domain always found downstream of DENN domain, found in a variety of signalling proteins
      smart00800
      Location:1 → 86
      uDENN; Domain always found upstream of DENN domain, found in a variety of signalling proteins
      pfam02141
      Location:115 → 297
      DENN; DENN (AEX-3) domain
      pfam12335
      Location:530 → 752
      SBF2; Myotubularin protein
      cl17171
      Location:880 → 998
      PH-like; Pleckstrin homology-like domain
      cl28904
      Location:1136 → 1252
      PTP_DSP_cys; cys-based protein tyrosine phosphatase and dual-specificity phosphatase superfamily

    12. XM_063274836.1 → XP_063130906.1  myotubularin-related protein 13 isoform X11

    Nucleotide Protein Strain
    Heading Accession and Version

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