ENSMUSG00000002257


Mus musculus

Features
Gene ID: ENSMUSG00000002257
  
Biological name :Def6
  
Synonyms : Def6 / DEF6, guanine nucleotide exchange factor
  
Possible biological names infered from orthology : Q9H4E7
  
Species: Mus musculus
  
Chr. number: 17
Strand: 1
Band: A3.3
Gene start: 28207778
Gene end: 28228608
  
Corresponding Affymetrix probe sets: 10443319 (MoGene1.0st)   1452796_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000002327
NCBI entrez gene - 23853     See in Manteia.
MGI - MGI:1346328
RefSeq - NM_027185
RefSeq Peptide - NP_081461
swissprot - A0A0R4IZX1
Ensembl - ENSMUSG00000002257
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 def6aENSDARG00000012247Danio rerio
 def6bENSDARG00000044524Danio rerio
 DEF6ENSGALG00000002615Gallus gallus
 DEF6ENSG00000023892Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Q6A028 / Swap70 / Switch-associated protein 70 / Q9UH65* / switching B cell complex subunit SWAP70*ENSMUSG0000003101541


Protein motifs (from Interpro)
Interpro ID Name
 IPR001849  Pleckstrin homology domain
 IPR011992  EF-hand domain pair
 IPR011993  PH-like domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 cellular_componentGO:0005654 nucleoplasm IEA
 cellular_componentGO:0005829 cytosol IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000063 reduced bone density "decreased mineral content of bone; indicator of bone strength" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:57315]
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Allelic Composition: Nbeal2tm1a(EUCOMM)Wtsi/Nbeal2tm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Nbeal2tm1a(EUCOMM)Wtsi/Wtsi

 MP:0000691 enlarged spleen "increased spleen size" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Gstz1tm1Jmfc/Gstz1tm1Jmfc
Genetic Background: 129S4/SvJae-Gstz1tm1Jmfc

 MP:0000702 enlarged lymph nodes "lymph nodes of increased size" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Gstz1tm1Jmfc/Gstz1tm1Jmfc
Genetic Background: 129S4/SvJae-Gstz1tm1Jmfc

 MP:0002073 abnormal hair growth "absence or reduced amount of hair or abnormal onset of hair growth cycle or development" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Nbeal2tm1a(EUCOMM)Wtsi/Nbeal2tm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Nbeal2tm1a(EUCOMM)Wtsi/Wtsi

 MP:0002359 abnormal spleen germinal center morphology "anomalous structure or formation of the area of the spleen in which activated follicles are located" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Pathology:ISBN 0-397-51047-0]
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Allelic Composition: Gstz1tm1Jmfc/Gstz1tm1Jmfc
Genetic Background: 129S4/SvJae-Gstz1tm1Jmfc

 MP:0002461 increased circulating immunoglobulin concentration "greater than normal immunoglobulin level" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Gstz1tm1Jmfc/Gstz1tm1Jmfc
Genetic Background: 129S4/SvJae-Gstz1tm1Jmfc

 MP:0002493 increased IgG "greater than normal immunoglobulin class G level" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Gstz1tm1Jmfc/Gstz1tm1Jmfc
Genetic Background: 129S4/SvJae-Gstz1tm1Jmfc

 MP:0003009 abnormal cytokine secretion "impairment or increase of the cellular release of any of the non-antibody proteins made by inflammatory leukocytes and some non-leukocytic cells that affect the behavior of other cells " [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7, smb:Susan M. Bello , Mouse Genome Informatics Curator]
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Allelic Composition: Gstz1tm1Jmfc/Gstz1tm1Jmfc
Genetic Background: 129S4/SvJae-Gstz1tm1Jmfc

 MP:0004794 increased anti-nuclear antigen antibody level "elevated level of antibodies to nuclear antigens present in the sera" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Gstz1tm1Jmfc/Gstz1tm1Jmfc
Genetic Background: 129S4/SvJae-Gstz1tm1Jmfc

 MP:0005015 increased T cell number "greater than normal T cell numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Gstz1tm1Jmfc/Gstz1tm1Jmfc
Genetic Background: 129S4/SvJae-Gstz1tm1Jmfc

 MP:0005018 decreased T cell number "fewer than normal T cell numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Nbeal2tm1a(EUCOMM)Wtsi/Nbeal2tm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Nbeal2tm1a(EUCOMM)Wtsi/Wtsi

 MP:0006414 decreased T cell apoptosis "decrease in the number of T cells undergoing programmed cell death" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Gstz1tm1Jmfc/Gstz1tm1Jmfc
Genetic Background: 129S4/SvJae-Gstz1tm1Jmfc

 MP:0008049 increased memory T cell number "greater number of the set of long-lived T cells differentiated from T cells activated by a specific antigen encountered during a past immune response" [adiehl:Alex Diehl_MGI GO curator, Biology-Online.org:http://www.biology-online.org/, MGI:rbabiuk "Randall Babiuk, Mouse Genome Informatics Curator"]
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Allelic Composition: Gstz1tm1Jmfc/Gstz1tm1Jmfc
Genetic Background: 129S4/SvJae-Gstz1tm1Jmfc

 MP:0008075 decreased CD4-positive T cell number "reduced number of the subset of T lymphocytes that carry the CD4 marker, recognize intravesicular peptides bound to MHC class-II molecules, and turn on antibody production" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Nbeal2tm1a(EUCOMM)Wtsi/Nbeal2tm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Nbeal2tm1a(EUCOMM)Wtsi/Wtsi

 MP:0008214 increased immature B cell number "greater number of the cells of the B lymphocyte lineage that have undergone VDJ rearrangement of the heavy chain and V-J rearrangement of the light chain; these cells express IgM on the cell surface but have not yet been selected for self-reactivity" [ISBN:0-8153-1691-7 "Immunobiology, The Immune System in Health and Disease", MGI:cwg "Carroll-Ann W. Goldsmith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Gstz1tm1Jmfc/Gstz1tm1Jmfc
Genetic Background: 129S4/SvJae-Gstz1tm1Jmfc

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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