• Gene id: 81846

Gene Summary

• Gene Symbol: SBF2   Gene   UCSC   Ensembl
• Aliases: CMT4B2, DENND7B, MTMR13
• Gene name: SET binding factor 2
• Alternate names: myotubularin-related protein 13, DENN/MADD domain containing 7B, inactive phosphatidylinositol 3-phosphatase 13,
• Gene location: 11p15.4 (10294206: 9778666)     Exons: 13     NC_000011.10
• Gene summary(Entrez): This gene encodes a pseudophosphatase and member of the myotubularin-related protein family. This gene maps within the CMT4B2 candidate region of chromosome 11p15 and mutations in this gene have been associated with Charcot-Marie-Tooth Disease, type 4B2.
• OMIM: 607697

Protein Summary

• Protein general information: Q86WG5  
  • Name: Myotubularin related protein 13 (Inactive phosphatidylinositol 3 phosphatase 13) (SET binding factor 2)
  • Length: 1849  
  • Mass: 208464
  • Tissue specificity: Widely expressed. Expressed in spinal cord. {ECO
• Sequence:

  MARLADYFIVVGYDHEKPGSGEGLGKIIQRFPQKDWDDTPFPQGIELFCQPGGWQLSRERKQPTFFVVVLTDIDS
  DRHYCSCLTFYEAEINLQGTKKEEIEGEAKVSGLIQPAEVFAPKSLVLVSRLYYPEIFRACLGLIYTVYVDSLNV
  SLESLIANLCACLVPAAGGSQKLFSLGAGDRQLIQTPLHDSLPITGTSVALLFQQLGIQNVLSLFCAVLTENKVL
  FHSASFQRLSDACRALESLMFPLKYSYPYIPILPAQLLEVLSSPTPFIIGVHSVFKTDVHELLDVIIADLDGGTI
  KIPECIHLSSLPEPLLHQTQSALSLILHPDLEVADHAFPPPRTALSHSKMLDKEVRAVFLRLFAQLFQGYRSCLQ
  LIRIHAEPVIHFHKTAFLGQRGLVENDFLTKVLSGMAFAGFVSERGPPYRSCDLFDELVAFEVERIKVEENNPVK
  MIKHVRELAEQLFKNENPNPHMAFQKVPRPTEGSHLRVHILPFPEINEARVQELIQENVAKNQNAPPATRIEKKC
  VVPAGPPVVSIMDKVTTVFNSAQRLEVVRNCISFIFENKILETEKTLPAALRALKGKAARQCLTDELGLHVQQNR
  AILDHQQFDYIIRMMNCTLQDCSSLEEYNIAAALLPLTSAFYRKLAPGVSQFAYTCVQDHPIWTNQQFWETTFYN
  AVQEQVRSLYLSAKEDNHAPHLKQKDKLPDDHYQEKTAMDLAAEQLRLWPTLSKSTQQELVQHEESTVFSQAIHF
  ANLMVNLLVPLDTSKNKLLRTSAPGDWESGSNSIVTNSIAGSVAESYDTESGFEDSENTDIANSVVRFITRFIDK
  VCTESGVTQDHIKSLHCMIPGIVAMHIETLEAVHRESRRLPPIQKPKILRPALLPGEEIVCEGLRVLLDPDGREE
  ATGGLLGGPQLLPAEGALFLTTYRILFRGTPHDQLVGEQTVVRSFPIASITKEKKITMQNQLQQNMQEGLQITSA
  SFQLIKVAFDEEVSPEVVEIFKKQLMKFRYPQSIFSTFAFAAGQTTPQIILPKQKEKNTSFRTFSKTIVKGAKRA
  GKMTIGRQYLLKKKTGTIVEERVNRPGWNEDDDVSVSDESELPTSTTLKASEKSTMEQLVEKACFRDYQRLGLGT
  ISGSSSRSRPEYFRITASNRMYSLCRSYPGLLVVPQAVQDSSLPRVARCYRHNRLPVVCWKNSRSGTLLLRSGGF
  HGKGVVGLFKSQNSPQAAPTSSLESSSSIEQEKYLQALLNAVSVHQKLRGNSTLTVRPAFALSPGVWASLRSSTR
  LISSPTSFIDVGARLAGKDHSASFSNSSYLQNQLLKRQAALYIFGEKSQLRNFKVEFALNCEFVPVEFHEIRQVK
  ASFKKLMRACIPSTIPTDSEVTFLKALGDSEWFPQLHRIMQLAVVVSEVLENGSSVLVCLEEGWDITAQVTSLVQ
  LLSDPFYRTLEGFQMLVEKEWLSFGHKFSQRSSLTLNCQGSGFAPVFLQFLDCVHQVHNQYPTEFEFNLYYLKFL
  AFHYVSNRFKTFLLDSDYERLEHGTLFDDKGEKHAKKGVCIWECIDRMHKRSPIFFNYLYSPLEIEALKPNVNVS
  SLKKWDYYIEETLSTGPSYDWMMLTPKHFPSEDSDLAGEAGPRSQRRTVWPCYDDVSCTQPDALTSLFSEIEKLE
  HKLNQAPEKWQQLWERVTVDLKEEPRTDRSQRHLSRSPGIVSTNLPSYQKRSLLHLPDSSMGEEQNSSISPSNGV
  ERRAATLYSQYTSKNDENRSFEGTLYKRGALLKGWKPRWFVLDVTKHQLRYYDSGEDTSCKGHIDLAEVEMVIPA
  GPSMGAPKHTSDKAFFDLKTSKRVYNFCAQDGQSAQQWMDKIQSCISDA

• Structural information:
  • Protein Domains: (7..17-)
    (/note="uDENN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00304-)
    (191..32-)
    (/note="cDENN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00304-)
    (326..42-)
    (/note="dDENN-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00304-)
    (-)
  • Interpro: IPR001194  IPR005112  IPR004182  IPR030567  IPR037823   IPR010569  IPR030564  IPR011993  IPR001849  IPR029021  IPR022096  IPR037516  IPR005113  
  • Prosite: PS50211 PS50003 PS51339
  • CDD: cd13339
  • STRING: ENSP00000256190
• Other Databases: GeneCards:  SBF2  Malacards:  SBF2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0017112	Rab guanyl-nucleotide exchange factor activity	IBA	molecular function
GO:0017112	Rab guanyl-nucleotide exchange factor activity	IDA	molecular function
GO:0019208	phosphatase regulator activity	IEA	molecular function
GO:0043087	regulation of GTPase activity	IEA	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0006914	autophagy	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005085	guanyl-nucleotide exchange factor activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0019208	phosphatase regulator activity	IEA	molecular function
GO:0005774	vacuolar membrane	IEA	cellular component
GO:0019902	phosphatase binding	IEA	molecular function
GO:0035091	phosphatidylinositol binding	IEA	molecular function
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0030424	axon	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0010008	endosome membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IDA	cellular component
GO:0042552	myelination	NAS	biological process
GO:0005515	protein binding	IPI	molecular function

Diseases

Associated diseases	References
Charcot-Marie-Tooth disease	KEGG:H00264
Charcot-Marie-Tooth disease	KEGG:H00264
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq