ENSMUSG00000038371


Mus musculus

Features
Gene ID: ENSMUSG00000038371
  
Biological name :Sbf2
  
Synonyms : Sbf2 / SET binding factor 2
  
Possible biological names infered from orthology : Q86WG5
  
Species: Mus musculus
  
Chr. number: 7
Strand: -1
Band: E3
Gene start: 110308013
Gene end: 110614922
  
Corresponding Affymetrix probe sets: 10566877 (MoGene1.0st)   1427132_at (Mouse Genome 430 2.0 Array)   1431433_at (Mouse Genome 430 2.0 Array)   1443160_at (Mouse Genome 430 2.0 Array)   1443762_s_at (Mouse Genome 430 2.0 Array)   1457689_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000128265
Ensembl peptide - ENSMUSP00000132072
Ensembl peptide - ENSMUSP00000131927
Ensembl peptide - ENSMUSP00000130476
Ensembl peptide - ENSMUSP00000129805
Ensembl peptide - ENSMUSP00000128340
Ensembl peptide - ENSMUSP00000033058
Ensembl peptide - ENSMUSP00000126217
Ensembl peptide - ENSMUSP00000127105
NCBI entrez gene - 319934     See in Manteia.
MGI - MGI:1921831
RefSeq - NM_177324
RefSeq - XM_006507924
RefSeq - XM_006507925
RefSeq - XM_006507926
RefSeq - XM_006507927
RefSeq - XM_011241830
RefSeq Peptide - NP_796298
swissprot - E9Q4I8
swissprot - F7BBM8
swissprot - E9Q372
swissprot - E9Q305
swissprot - E9Q0D4
swissprot - E9PXF8
swissprot - F6QG63
swissprot - F6QZ02
swissprot - F6ZDC5
Ensembl - ENSMUSG00000038371
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 sbf2ENSDARG00000059460Danio rerio
 SBF2ENSGALG00000005716Gallus gallus
 SBF2ENSG00000133812Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Sbf1 / Q6ZPE2 / SET binding factor 1 / O95248*ENSMUSG0000003652958
Mtmr4 / Q91XS1 / Mus musculus myotubularin related protein 4 (Mtmr4), transcript variant 2, mRNA. / Q9NYA4* / myotubularin related protein 4*ENSMUSG0000001840110
Mtmr2 / Q9Z2D1 / Myotubularin-related protein 2 / Q13614*ENSMUSG0000003191810
Mtmr3 / myotubularin related protein 3 / Q13615*ENSMUSG0000003435410
Mtm1 / Q9Z2C5 / X-linked myotubular myopathy gene 1 / Q13496* / myotubularin 1*ENSMUSG000000313379
Mtmr1 / Q9Z2C4 / Myotubularin-related protein 1 / Q13613*ENSMUSG000000152149
Mtmr6 / Q8VE11 / Myotubularin-related protein 6 / Q9Y217*ENSMUSG000000219878
Mtmr7 / Q9Z2C9 / Myotubularin-related protein 7 / Q9Y216*ENSMUSG000000394318
Mtmr9 / Q9Z2D0 / Myotubularin-related protein 9 / Q96QG7*ENSMUSG000000350787


Protein motifs (from Interpro)
Interpro ID Name
 IPR001194  cDENN domain
 IPR001849  Pleckstrin homology domain
 IPR004182  GRAM domain
 IPR005112  dDENN domain
 IPR005113  uDENN domain
 IPR010569  Myotubularin-like phosphatase domain
 IPR011993  PH-like domain superfamily
 IPR022096  SBF1/SBF2 domain
 IPR029021  Protein-tyrosine phosphatase-like
 IPR030564  Myotubularin family
 IPR030567  Myotubularin-related protein 13
 IPR037516  Tripartite DENN domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0043087 regulation of GTPase activity IEA
 biological_processGO:0050790 regulation of catalytic activity IEA
 biological_processGO:0051262 protein tetramerization IPI
 biological_processGO:0065009 regulation of molecular function IEA
 cellular_componentGO:0005774 vacuolar membrane IDA
 cellular_componentGO:0005829 cytosol TAS
 cellular_componentGO:0016020 membrane IEA
 molecular_functionGO:0017112 Rab guanyl-nucleotide exchange factor activity IEA
 molecular_functionGO:0019208 phosphatase regulator activity IDA
 molecular_functionGO:0019902 phosphatase binding IPI
 molecular_functionGO:0035091 phosphatidylinositol binding IDA
 molecular_functionGO:0042803 protein homodimerization activity IPI


Pathways (from Reactome)
Pathway description
RAB GEFs exchange GTP for GDP on RABs


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0001405 impaired coordination "reduced ability to execute integrated movements of muscle" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Otx2tm1Sia/Otx2tm4.1Sia
Genetic Background: involves: C57BL/6 * CBA * FVB/N

Allelic Composition: Mtmr2tm1Ueli/Mtmr2tm1Ueli,Sbf2Gt(XH212)Byg/Sbf2Gt(XH212)Byg
Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6

 MP:0001504 abnormal posture "atypical position of the limbs or carriage of the body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:18984]
Show

Allelic Composition: Gt(ROSA)26Sortm1(DTA)Mrc/Gt(ROSA)26Sor+,Myf6tm1(cre)Mrc/Myf6+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0001513 limb grasping "mice clasp front and/or hind feet almost immediately upon being lifted by tail" [cml:Cathleen M. Lutz , Mouse Genome Informatics Curator]
Show

Allelic Composition: Otx2tm1Sia/Otx2tm4.1Sia
Genetic Background: involves: C57BL/6 * CBA * FVB/N

Allelic Composition: Mtmr2tm1Ueli/Mtmr2tm1Ueli,Sbf2Gt(XH212)Byg/Sbf2Gt(XH212)Byg
Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * C57BL/6

 MP:0003224 neuron degeneration "a retrogressive impairment of function or destruction of the functional cells of the nervous system that receive, conduct, and transmit impulses " [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8]
Show

Allelic Composition: Otx2tm1Sia/Otx2tm4.1Sia
Genetic Background: involves: C57BL/6 * CBA * FVB/N

 MP:0003871 abnormal myelin sheath morphology "malformation of the insulating envelope that surrounds nerve fibers or axons" [smb:Susan M Bello, Mouse Genome Informatics Curator]
Show

Allelic Composition: Gt(ROSA)26Sortm1(DTA)Mrc/Gt(ROSA)26Sor+,Myf6tm1(cre)Mrc/Myf6+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

Allelic Composition: Sbf2Gt(XH212)Byg/Sbf2Gt(XH212)Byg
Genetic Background: involves: 129P2/OlaHsd * C57BL/6

 MP:0005402 abnormal action potential "change in the electric response of a nerve or other excitable tissue to its stimulation" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Otx2tm1Sia/Otx2tm4.1Sia
Genetic Background: involves: C57BL/6 * CBA * FVB/N

 MP:0005403 abnormal nerve conduction "anomaly in the act of transmitting electricity along a single nerve" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Gt(ROSA)26Sortm1(DTA)Mrc/Gt(ROSA)26Sor+,Myf6tm1(cre)Mrc/Myf6+
Genetic Background: involves: 129S1/Sv * 129X1/SvJ

 MP:0005404 abnormal axon morphology "anomaly in the structure of the single process of a nerve cell that normally conducts impulses away from the cell body" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: Otx2tm1Sia/Otx2tm4.1Sia
Genetic Background: involves: C57BL/6 * CBA * FVB/N

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSMUSG00000031918 Mtmr2 / Q9Z2D1 / Myotubularin-related protein 2 / Q13614*  / reaction / complex
 ENSMUSG00000038371 Sbf2 / SET binding factor 2 / Q86WG5*  / complex






 

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