Homo sapiens Gene: SBF2
Summary
InnateDB Gene IDBG-31529.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SBF2
Gene Name SET binding factor 2
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000133812
Encoded Proteins
SET binding factor 2
SET binding factor 2
SET binding factor 2
SET binding factor 2
SET binding factor 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 11:9778667-10294207
Strand Reverse strand
Band p15.4
Transcripts
ENST00000256190 ENSP00000256190
ENST00000420722 ENSP00000410478
ENST00000525040
ENST00000529587
ENST00000532095 ENSP00000434620
ENST00000528478
ENST00000525697
ENST00000530741 ENSP00000432643
ENST00000524961
ENST00000533584
ENST00000533770
ENST00000526353
ENST00000527019
ENST00000533661
ENST00000617179 ENSP00000482806
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0016791 phosphatase activity
GO:0017112 Rab guanyl-nucleotide exchange factor activity
GO:0019208 phosphatase regulator activity
GO:0019902 phosphatase binding
GO:0035091 phosphatidylinositol binding
GO:0042803 protein homodimerization activity
Biological Process
GO:0008219 cell death
GO:0016311 dephosphorylation
GO:0032851 positive regulation of Rab GTPase activity
GO:0042552 myelination
GO:0050790 regulation of catalytic activity
GO:0051262 protein tetramerization
Cellular Component
GO:0005774 vacuolar membrane
GO:0016020 membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.577252 Hs.602824
RefSeq NM_030962
HUGO
OMIM
CCDS CCDS31427
HPRD 09649
IMGT
EMBL
GenPept
RNA Seq Atlas