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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

Gene Tree: Sbf2

Human
homologs
Human Homolog SBF2, SET binding factor 2
NCBI Gene ID 81846
neXtProt AC  NX_Q86WG5
Human Synonyms  CMT4B2, DENND7B, MTMR13
Human Chr (Location)  11p15.4; chr11:9778667-10294207 (-)  GRCh38
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 )
 
Mice homozygous for null alleles display progressive misfolding of myelin sheaths and abnormal nerve electrophysiology.
 
Human Diseases Modeled Using Mouse Sbf2 (1)    Alleles Annotated to Human Diseases(2)    Phenotype Images(5)
Interactions
Sbf2 interacts with 306 markers (Mir1a-1, Mir1a-2, Mir7-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (10 annotations)
Process positive regulation of Rab 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)
Theiler Stages: 14, 16, 18, 20, 21, 27, 28
Assay TypeResults
RNA in situ 34
Northern blot 12
RT-PCR 4
cDNA source data(124)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(125) cDNA(124) Primer pair(1)
Microarray probesets(7)
Other database
links
VEGA Gene ModelOTTMUSG00000036532 (Evidence)
Ensembl Gene ModelENSMUSG00000038371 (Evidence)
Entrez Gene319934 (Evidence)
UniGene102970
DFCITC1581811, TC1585534, TC1596511, TC1605497, TC1608246, TC1612570, TC1612747, TC1632190
DoTSDT.101366223, DT.103571753, DT.527938, DT.87048461, DT.91283303, DT.94230457, DT.94340723, DT.94340734, DT.99849960
NIA Mouse Gene IndexU029120
Consensus CDS ProjectCCDS52361.1
International Mouse Knockout Project StatusSbf2
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(41)
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
09/09/2014
MGI 5.19
The Jackson Laboratory