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Sbf2
Gene Detail
Symbol

Name
ID
Sbf2
SET binding factor 2
MGI:1921831
Synonyms
4833411B01Rik, B430219L04Rik, mMTMH1, Mtmr13, SBF2
Feature Type
protein coding gene
Genetic Map
Chromosome 7
57.70 cM, cytoband F2
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr7:110308013-110614922 bp, - strand
From VEGA annotation of GRCm38

  306910 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:41810  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: SBF2
Gene Tree: Sbf2

Human
homologs
SBF2, SET binding factor 2
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 81846
neXtProt AC: NX_Q86WG5

Human Synonyms: CMT4B2, DENND7B, MTMR13

Human Chr (Location): 11p15.4; chr11:9778667-10294207 (-)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human SBF2

Mutations,
alleles, and
phenotypes
All mutations/alleles(11) : Gene trapped(9) Targeted(2)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Mice homozygous for null alleles display progressive misfolding of myelin sheaths and abnormal nerve electrophysiology.
 
Human Diseases Modeled in Mice Using Sbf2 (1)    Mutations Annotated to Human Diseases (2)    Phenotype Images(5)
Interactions
Sbf2 interacts with 305 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (10 annotations)
Process positive regulation of GTPase activity, protein tetramerization, ...
Component membrane, vacuolar membrane
Function phosphatase binding, phosphatase regulator activity, ...
External Resources: FuncBase
Expression
Literature Summary: (1 records)
Data Summary: Results (50)    Tissues (48)    Images (8)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 34
Northern blot 12
RT-PCR 4
cDNA source data(124)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase sbf2    NEW 
Molecular
reagents
All nucleic(125) cDNA(124) Primer pair(1)
Microarray probesets(7)
Other database
links
VEGA Gene Model OTTMUSG00000036532 (Evidence)
Ensembl Gene Model ENSMUSG00000038371 (Evidence)
Entrez Gene 319934 (Evidence)
UniGene 102970
DFCI TC1581811, TC1585534, TC1596511, TC1605497, TC1608246, TC1612570, TC1612747, TC1632190
DoTS DT.101366223, DT.103571753, DT.527938, DT.87048461, DT.91283303, DT.94230457, DT.94340723, DT.94340734, DT.99849960
NIA Mouse Gene Index U029120
Consensus CDS Project CCDS52361.1
International Mouse Phenotyping Consortium Status Sbf2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000036532 VEGA Gene Model | MGI Sequence Detail 306910 C57BL/6J ±  kb
transcript OTTMUST00000093662 VEGA | MGI Sequence Detail 7090 Not Applicable 
polypeptide OTTMUSP00000052015 VEGA | MGI Sequence Detail 1847 Not Applicable 

For the selected sequences
All sequences(128) RefSeq(15) UniProt(19)
Polymorphisms
SNPs within 2kb(2420 from dbSNP Build 137)    SNPs within 2kb including multiple locations(2422)
Protein-related
information
ResourceIDDescription
InterPro IPR005112 dDENN domain
InterPro IPR001194 DENN domain
InterPro IPR004182 GRAM
InterPro IPR022096 Myotubularin protein
InterPro IPR010569 Myotubularin-related
InterPro IPR001849 Pleckstrin homology domain
InterPro IPR011993 Pleckstrin homology-like domain
InterPro IPR005113 uDENN domain
Protein Ontology PR:000014474 myotubularin-related protein 13
References
(Earliest) J:62647 Laporte J, et al., Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. Hum Mol Genet. 1998 Oct;7(11):1703-12
(Latest) J:194990 Ng AA, et al., The CMT4B disease-causing phosphatases Mtmr2 and Mtmr13 localize to the Schwann cell cytoplasm and endomembrane compartments, where they depend upon each other to achieve wild-type levels of protein expression. Hum Mol Genet. 2013 Apr 15;22(8):1493-506
All references(39)
Disease annotation references (2)
Other
accession IDs
MGI:2141827, MGI:2141904, MGI:2443006

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/18/2015
MGI 6.0
The Jackson Laboratory