SBF2

Myotubularin-related protein 13 is a protein that in humans is encoded by the SBF2 gene.^[5][6]

AliasesSBF2, CMT4B2, DENND7B, MTMR13, SET binding factor 2

External IDsOMIM: 607697; MGI: 1921831; HomoloGene: 41810; GeneCards: SBF2; OMA:SBF2 - orthologs

Chr.Chromosome 11 (human)^[1]

End10,304,877 bp^[1]

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SBF2
Identifiers
Aliases	SBF2, CMT4B2, DENND7B, MTMR13, SET binding factor 2
External IDs	OMIM: 607697; MGI: 1921831; HomoloGene: 41810; GeneCards: SBF2; OMA:SBF2 - orthologs
Gene location (Human) Chr. Chromosome 11 (human)[1] Band 11p15.4 Start 9,776,776 bp[1] End 10,304,877 bp[1]
Gene location (Mouse) Chr. Chromosome 7 (mouse)[2] Band 7|7 E3 Start 109,907,220 bp[2] End 110,214,129 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in pancreatic epithelial cell epithelium of colon Achilles tendon sural nerve germinal epithelium ventricular zone seminal vesicula gastric mucosa pancreatic ductal cell subcutaneous adipose tissue Top expressed in Paneth cell sciatic nerve renal corpuscle right ventricle fossa medullary collecting duct Ileal epithelium condyle substantia nigra ciliary body More reference expression data BioGPS More reference expression data
Gene ontology Molecular function phosphatase binding phosphatase regulator activity protein binding phosphatidylinositol binding protein homodimerization activity guanyl-nucleotide exchange factor activity Cellular component cytoplasm membrane vacuolar membrane cytosol endosome endosome membrane axon cell projection perinuclear region of cytoplasm Biological process regulation of GTPase activity myelination protein tetramerization autophagy Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 81846 319934 Ensembl ENSG00000133812 ENSMUSG00000038371 UniProt Q86WG5 E9PXF8 RefSeq (mRNA) NM_030962 NM_001386339 NM_001386342 NM_177324 NM_178769 RefSeq (protein) NP_112224 NP_796298 NP_001391316 NP_001391317 NP_001391318 Location (UCSC) Chr 11: 9.78 – 10.3 Mb Chr 7: 109.91 – 110.21 Mb PubMed search [3] [4]
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The family of myotubularin-related proteins includes lipid phosphatases, such as MTM1 (MIM 600415), and pseudophosphatases, such as SBF1 (MIM 603560) and SBF2. Pseudophosphatases contain inactivating substitutions at the catalytic cysteine [supplied by OMIM].^[6]