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SBF1

  • SBF1

    • Protein-coding gene in the species Homo sapiens

    Myotubularin-related protein 5 is a protein that in humans is encoded by the SBF1 gene. SBF1 has been shown to interact with MTMR2 and SUV39H1. GRCh38: Ensembl

    SBF1

    SBF1

    SBF1

  • SBF2

    • Protein-coding gene in the species Homo sapiens

    phosphatases, such as MTM1 (MIM 600415), and pseudophosphatases, such as SBF1 (MIM 603560) and SBF2. Pseudophosphatases contain inactivating substitutions

    SBF2

    SBF2

    SBF2

  • 22q13 deletion syndrome

    • Rare genetic syndrome

    schizophrenia. Since then, twelve other genes on 22q13 (MAPK8IP2, CHKB, SCO2, SBF1, PLXNB2, MAPK12, PANX2, BRD1, CELSR1, WNT7B, TCF20) have been associated

    22q13 deletion syndrome

    22q13 deletion syndrome

    22q13_deletion_syndrome

  • GRAM domain

    • Protein domain

    GRAMD1C; GRAMD2A; GRAMD2B; GRAMD4; MTM1; MTMR1; MTMR2; NCOA7; NSMAF; OXR1; SBF1; SBF2; TBC1D8; TBC1D8B; TBC1D9; TBC1D9B; WBP2; WBP2NL; dJ439F8.1; Doerks

    GRAM domain

    GRAM domain

    GRAM_domain

  • Charcot–Marie–Tooth disease classifications

    • Peripheral nervous system disorders

    Autosomal recessive CMT4B2 604563 SBF2 11p15.4 Autosomal recessive CMT4B3 615284 SBF1 22q13.33 Autosomal recessive CMT4C 601596 SH3TC2 5q32 Autosomal recessive

    Charcot–Marie–Tooth disease classifications

    Charcot–Marie–Tooth_disease_classifications

  • Pleckstrin homology domain

    • Protein domain

    RASA1, RASA2, RASA3, RASA4, RASAL1, RASGRF1, RGNEF, ROCK1, ROCK2, RTKN, SBF1, SBF2, SCAP2, SGEF, SH2B, SH2B1, SH2B2, SH2B3, SH3BP2, SKAP1, SKAP2, SNTA1

    Pleckstrin homology domain

    Pleckstrin homology domain

    Pleckstrin_homology_domain

  • List of human protein-coding genes 7

    • Q8NA69 14313 SAYSD1 HGNC:21025; Q9NPB0 14314 SBDS HGNC:19440; Q9Y3A5 14315 SBF1 HGNC:10542; O95248 14316 SBF2 HGNC:2135; Q86WG5 14317 SBK1 HGNC:17699; Q52WX2

    List of human protein-coding genes 7

    List_of_human_protein-coding_genes_7

  • SUV39H1

    • Protein-coding gene in humans

    HDAC9, Histone deacetylase 2, MBD1, RUNX1, Retinoblastoma protein, and SBF1. PIN1 GRCh38: Ensembl release 89: ENSG00000101945 – Ensembl, May 2017 GRCm38:

    SUV39H1

    SUV39H1

    SUV39H1

  • Myotubularin

    • Protein domain

    MTMR3; MTMR4; MTMR6; MTMR7; MTMR8; MTMR9; MTMR10; MTMR11; MTMR12; MTMR14; SBF1; SBF2; Begley MJ, Taylor GS, Kim SA, Veine DM, Dixon JE, Stuckey JA (December

    Myotubularin

    Myotubularin

    Myotubularin

  • MTMR2

    • Protein-coding gene in the species Homo sapiens

    variants has not been determined. MTMR2 has been shown to interact with SBF1. GRCh38: Ensembl release 89: ENSG00000087053 – Ensembl, May 2017 GRCm38:

    MTMR2

    MTMR2

    MTMR2

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