ENSMUSG00000057948


Mus musculus

Features
Gene ID: ENSMUSG00000057948
  
Biological name :Unc13d
  
Synonyms : B2RUP2 / Unc13d / unc-13 homolog D (C. elegans)
  
Possible biological names infered from orthology : Q70J99 / unc-13 homolog D
  
Species: Mus musculus
  
Chr. number: 11
Strand: -1
Band: E2
Gene start: 116062095
Gene end: 116077961
  
Corresponding Affymetrix probe sets: 10393064 (MoGene1.0st)   1428992_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000102059
Ensembl peptide - ENSMUSP00000134260
Ensembl peptide - ENSMUSP00000133679
Ensembl peptide - ENSMUSP00000118266
Ensembl peptide - ENSMUSP00000115327
Ensembl peptide - ENSMUSP00000074549
Ensembl peptide - ENSMUSP00000102058
NCBI entrez gene - 70450     See in Manteia.
MGI - MGI:1917700
RefSeq - XM_011249254
RefSeq - XM_006534192
RefSeq - XM_006534188
RefSeq - NM_001009573
RefSeq - XM_006534189
RefSeq - XM_006534190
RefSeq Peptide - NP_001009573
swissprot - B2RUP2
swissprot - A0A0R4J257
swissprot - A2A855
swissprot - A2A858
Ensembl - ENSMUSG00000057948
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 unc13dENSDARG00000078249Danio rerio
 UNC13DENSGALG00000002234Gallus gallus
 Q70J99ENSG00000092929Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Baiap3 / BAI1 associated protein 3 / O94812*ENSMUSG0000004750734


Protein motifs (from Interpro)
Interpro ID Name
 IPR000008  C2 domain
 IPR014770  Munc13 homology 1
 IPR014772  Mammalian uncoordinated homology 13, domain 2
 IPR019558  Mammalian uncoordinated homology 13, subgroup, domain 2
 IPR035892  C2 domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002432 granuloma formation IMP
 biological_processGO:0002467 germinal center formation IMP
 biological_processGO:0006887 exocytosis IEA
 biological_processGO:0006909 phagocytosis IMP
 biological_processGO:0043304 regulation of mast cell degranulation ISO
 biological_processGO:0043320 natural killer cell degranulation IMP
 biological_processGO:0045921 positive regulation of exocytosis ISO
 biological_processGO:0051607 defense response to virus IMP
 biological_processGO:1900026 positive regulation of substrate adhesion-dependent cell spreading IMP
 biological_processGO:1903307 positive regulation of regulated secretory pathway ISO
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005764 lysosome ISO
 cellular_componentGO:0005768 endosome IEA
 cellular_componentGO:0005770 late endosome IEA
 cellular_componentGO:0005783 endoplasmic reticulum IBA
 cellular_componentGO:0005829 cytosol ISO
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0033093 Weibel-Palade body ISO
 cellular_componentGO:0043231 intracellular membrane-bounded organelle ISO
 cellular_componentGO:0055037 recycling endosome IEA
 cellular_componentGO:0070382 exocytic vesicle ISO
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0017137 Rab GTPase binding ISO


Pathways (from Reactome)
Pathway description
Neutrophil degranulation


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000219 increased neutrophil count "greater than normal neutrophil numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Bmp7tm6(cre)Rob/Bmp7+,Smad4tm1Rob/Smad4tm1.1Rob
Genetic Background: involves: 129S/SvEv * C57BL/6 * SJL

 MP:0000220 increased monocyte count "greater than normal monocyte numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Bmp7tm6(cre)Rob/Bmp7+,Smad4tm1Rob/Smad4tm1.1Rob
Genetic Background: involves: 129S/SvEv * C57BL/6 * SJL

 MP:0000691 enlarged spleen "increased spleen size" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Bmp7tm6(cre)Rob/Bmp7+,Smad4tm1Rob/Smad4tm1.1Rob
Genetic Background: involves: 129S/SvEv * C57BL/6 * SJL

 MP:0001577 anemia "less than normal levels of red blood cells, hemoglobin or volume of packed red blood cells " [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:53370]
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Allelic Composition: Bmp7tm6(cre)Rob/Bmp7+,Smad4tm1Rob/Smad4tm1.1Rob
Genetic Background: involves: 129S/SvEv * C57BL/6 * SJL

 MP:0002397 abnormal bone marrow morphology "structural anomalies in the soft tissue that fills the cavities of bones" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Bmp7tm6(cre)Rob/Bmp7+,Smad4tm1Rob/Smad4tm1.1Rob
Genetic Background: involves: 129S/SvEv * C57BL/6 * SJL

 MP:0002418 increased susceptibility to viral infection "greater likelihood that an organism will develop ill effects from a viral infection or from components of or toxins produced by a virus" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Bmp7tm6(cre)Rob/Bmp7+,Smad4tm1Rob/Smad4tm1.1Rob
Genetic Background: involves: 129S/SvEv * C57BL/6 * SJL

 MP:0002451 abnormal macrophage physiology "abnormal function or response of the phagocytic leukocytes involved in innate immunity, early non-adaptive phases of host-defense, antigen presentation, and which act as effector cells in humoral and cell-mediated immunity" [Immunobiology , The Immune System in Health and Disease:ISBN 0-8153-1691-7, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
Show

Allelic Composition: Bmp7tm6(cre)Rob/Bmp7+,Smad4tm1Rob/Smad4tm1.1Rob
Genetic Background: involves: 129S/SvEv * C57BL/6 * SJL

 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]
Show

Allelic Composition: Bmp7tm6(cre)Rob/Bmp7+,Smad4tm1Rob/Smad4tm1.1Rob
Genetic Background: involves: 129S/SvEv * C57BL/6 * SJL

 MP:0003179 decreased platelet count "fewer than the normal numbers of the non-nucleated cells found in the blood and involved in blood coagulation " [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, hdene:Howard Dene , Mouse Genome Informatics Curator, J:93052]
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Allelic Composition: Bmp7tm6(cre)Rob/Bmp7+,Smad4tm1Rob/Smad4tm1.1Rob
Genetic Background: involves: 129S/SvEv * C57BL/6 * SJL

 MP:0005079 defective cytotoxic T cell cytolysis "impaired ability of these cells to destroy or dissolve targeted cells" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, J:6692]
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Allelic Composition: Bmp7tm6(cre)Rob/Bmp7+,Smad4tm1Rob/Smad4tm1.1Rob
Genetic Background: involves: 129S/SvEv * C57BL/6 * SJL

 MP:0005606 increased bleeding time "greater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, RGD:Rat Genome Database submission]
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Allelic Composition: Braftm1Cpri/Braftm1Cpri,Gnastm3Lsw/Gnastm3Lsw,Tg(TPO-cre)1Shk/0
Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * FVB/NCr

 MP:0006058 decreased cerebral infarction size "decreased size of necrotic area of the cerebrum resulting from a sudden insufficiency of arterial or venous blood supply " [RGD:Rat Genome Database submission, smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Braftm1Cpri/Braftm1Cpri,Gnastm3Lsw/Gnastm3Lsw,Tg(TPO-cre)1Shk/0
Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * FVB/NCr

 MP:0006059 decreased susceptibility to ischemic brain injury "decreased lesion size following loss of circulation in a region of the brain; may be induced or spontaneous" [smb:Susan M Bello, Mouse Genome Informatics Curator]
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Allelic Composition: Braftm1Cpri/Braftm1Cpri,Gnastm3Lsw/Gnastm3Lsw,Tg(TPO-cre)1Shk/0
Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * FVB/NCr

 MP:0008078 increased CD8-positive T cell number "greater number of the regulatory subset of T lymphocytes that are involved in MHC class I restricted interactions" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
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Allelic Composition: Bmp7tm6(cre)Rob/Bmp7+,Smad4tm1Rob/Smad4tm1.1Rob
Genetic Background: involves: 129S/SvEv * C57BL/6 * SJL

 MP:0008523 absent lymph node germinal center "absence of the area of the lymph node secondary follicle where B cells are stimulated by antigens and helper T cells are stimulated to generate memory cells" [MESH:A10.549.400.500, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Bmp7tm6(cre)Rob/Bmp7+,Smad4tm1Rob/Smad4tm1.1Rob
Genetic Background: involves: 129S/SvEv * C57BL/6 * SJL

 MP:0009549 impaired platelet aggregation "decrease in the ability of one platelet to one or more other platelets via adhesion molecules" [GO:0070527]
Show

Allelic Composition: Braftm1Cpri/Braftm1Cpri,Gnastm3Lsw/Gnastm3Lsw,Tg(TPO-cre)1Shk/0
Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * FVB/NCr

 MP:0010766 abnormal NK cell physiology "any functional anomaly of a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with other cells" [GOC:add, ISBN:0781735149, MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator", PMID:15771571]
Show

Allelic Composition: Bmp7tm6(cre)Rob/Bmp7+,Smad4tm1Rob/Smad4tm1.1Rob
Genetic Background: involves: 129S/SvEv * C57BL/6 * SJL

 MP:0020215 impaired blood coagulation "impaired ability of the blood to clot" [GOC:NV]
Show

Allelic Composition: Braftm1Cpri/Braftm1Cpri,Gnastm3Lsw/Gnastm3Lsw,Tg(TPO-cre)1Shk/0
Genetic Background: involves: 129P2/OlaHsd * 129S6/SvEvTac * FVB/NCr

  


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






 

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