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 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 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; chr11:9800214-10315754 (-)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human SBF2

Alleles and phenotypes

All alleles(11) : Targeted(2) Gene trapped(9)
 

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)

Gene Ontology (GO) classifications

All GO classifications: (9 annotations)

Process	protein tetramerization, regulation of catalytic activity
Component	membrane, vacuolar membrane
Function	phosphatase binding, phosphatase regulator activity, ...

External Resources: FuncBase

Expression

Literature Summary: (1 records)
Data Summary: Results (50)    Tissues (47)    Images (8)
Theiler Stages: 14, 16, 18, 20, 21, 28

Assay Type	Results
RNA in situ	34
Northern blot	12
RT-PCR	4

cDNA source data(126)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(127) cDNA(126) 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 Knockout Project Status	Sbf2

Sequences

Length	Strain/Species
genomic	OTTMUSG00000036532	VEGA Gene Model | MGI Sequence Detail	306910	C57BL/6J
transcript	OTTMUST00000093662	VEGA | MGI Sequence Detail	7090	Not Applicable
polypeptide	OTTMUSP00000052015	VEGA | MGI Sequence Detail	1847	Not Applicable

All sequences(116) RefSeq(3) UniProt(19)

Polymorphisms

SNPs(1187 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR005112	dDENN domain
InterPro	IPR001194	DENN domain
InterPro	IPR004182	GRAM
InterPro	IPR017906	Myotubularin phosphatase domain
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)

Other accession IDs

MGI:2141827, MGI:2141904, MGI:2443006