ENSMUSG00000056724


Mus musculus

Features
Gene ID: ENSMUSG00000056724
  
Biological name :Nbeal2
  
Synonyms : Nbeal2 / Neurobeachin-like protein 2 / Q6ZQA0
  
Possible biological names infered from orthology : neurobeachin like 2 / Q6ZNJ1
  
Species: Mus musculus
  
Chr. number: 9
Strand: -1
Band: F2
Gene start: 110624789
Gene end: 110654161
  
Corresponding Affymetrix probe sets: 10597182 (MoGene1.0st)   1455694_at (Mouse Genome 430 2.0 Array)   1456881_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000121373
Ensembl peptide - ENSMUSP00000143265
Ensembl peptide - ENSMUSP00000128586
Ensembl peptide - ENSMUSP00000122014
Ensembl peptide - ENSMUSP00000114660
Ensembl peptide - ENSMUSP00000118061
Ensembl peptide - ENSMUSP00000119254
NCBI entrez gene - 235627     See in Manteia.
MGI - MGI:2448554
RefSeq - NM_183276
RefSeq Peptide - NP_899099
swissprot - F6VTL9
swissprot - F6ZZB1
swissprot - F7CGQ9
swissprot - E9Q9L6
swissprot - Q6ZQA0
swissprot - D3Z2K6
swissprot - A0A0G2JFQ4
Ensembl - ENSMUSG00000056724
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 nbeal2ENSDARG00000098641Danio rerio
 NBEAL2ENSGALG00000039120Gallus gallus
 NBEAL2ENSG00000160796Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Nbeal1 / neurobeachin like 1 / Q6ZS30*ENSMUSG0000007366446
Lyst / lysosomal trafficking regulator / Q99698*ENSMUSG0000001972621
Nbea / Q9EPN1 / Neurobeachin / Q8NFP9*ENSMUSG0000002779920
Wdfy3 / Q6VNB8 / WD repeat and FYVE domain containing 3 / Q8IZQ1*ENSMUSG0000004394020
Wdfy4 / WD repeat and FYVE domain containing 4 / Q6ZS81* / WDFY family member 4*ENSMUSG0000005150620
Lrba / LPS responsive beige-like anchor protein / P50851*ENSMUSG0000002808019
Wdr81 / Q5ND34 / WD repeat domain 81 / Q562E7*ENSMUSG0000004537411
Nsmaf / O35242 / neutral sphingomyelinase (N-SMase) activation associated factor / Q92636* / neutral sphingomyelinase activation associated factor*ENSMUSG000000282459


Protein motifs (from Interpro)
Interpro ID Name
 IPR000409  BEACH domain
 IPR001680  WD40 repeat
 IPR011989  Armadillo-like helical
 IPR011993  PH-like domain superfamily
 IPR013320  Concanavalin A-like lectin/glucanase domain superfamily
 IPR015943  WD40/YVTN repeat-like-containing domain superfamily
 IPR016024  Armadillo-type fold
 IPR017986  WD40-repeat-containing domain
 IPR023362  PH-BEACH domain
 IPR026916  Neurobeachin-like protein 2
 IPR031570  Domain of unknown function DUF4704
 IPR036322  WD40-repeat-containing domain superfamily
 IPR036372  BEACH domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0007596 blood coagulation IMP
 biological_processGO:0030220 platelet formation IEA
 biological_processGO:0035855 megakaryocyte development IMP
 biological_processGO:0042060 wound healing IMP
 biological_processGO:0070889 platelet alpha granule organization IMP
 cellular_componentGO:0005783 endoplasmic reticulum IEA
 cellular_componentGO:0012505 endomembrane system IBA
 molecular_functionGO:0005488 binding IEA
 molecular_functionGO:0005515 protein binding IEA


Pathways (from Reactome)
Pathway description
Neutrophil degranulation


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: Srrm4tm1e(EUCOMM)Wtsi/Srrm4tm1e(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Srrm4tm1e(EUCOMM)Wtsi/Wtsi

 MP:0000218 increased WBC count "greater than normal WBC numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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Allelic Composition: Srrm4tm1e(EUCOMM)Wtsi/Srrm4tm1e(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Srrm4tm1e(EUCOMM)Wtsi/Wtsi

 MP:0000222 decreased neutrophil count "fewer than normal neutrophil numbers" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Mir196a-1tm1.1Wtsi/Mir196a-1tm1.1Wtsi,Mir196a-2tm1.1Wtsi/Mir196a-2tm1.1Wtsi,Mir196btm1.1Wtsi/Mir196btm1.1Wtsi
Genetic Background: involves: C57BL/6J * C57BL/6N

 MP:0000229 abnormal megakaryocyte differentiation "atypical process of formation and development these very large bone marrow cells which release mature platelets" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
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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: Gt(ROSA)26Sortm1(CAG-Etv2,-GFP)Hkata/Gt(ROSA)26Sor+,Meox1tm1(cre)Jpa/Meox1+
Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj

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

 MP:0001273 decreased metastatic potential 
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Allelic Composition: Nbeal2tm1a(EUCOMM)Wtsi/Nbeal2tm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Nbeal2tm1a(EUCOMM)Wtsi/Wtsi

 MP:0001792 impaired wound healing "reduced ability or inability to self-repair and close wounds" [J:65302, cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Gt(ROSA)26Sortm1(CAG-Etv2,-GFP)Hkata/Gt(ROSA)26Sor+,Meox1tm1(cre)Jpa/Meox1+
Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj

 MP:0001846 increased inflammatory response "greater than expected response to injury, infection, or insult " [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Srrm4tm1e(EUCOMM)Wtsi/Srrm4tm1e(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Srrm4tm1e(EUCOMM)Wtsi/Wtsi

 MP:0002417 abnormal megakaryocyte morphology/development "anomalous structure or formation of the very large cells found in the bone marrow that release platelets" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator]
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Allelic Composition: Gt(ROSA)26Sortm1(CAG-Etv2,-GFP)Hkata/Gt(ROSA)26Sor+,Meox1tm1(cre)Jpa/Meox1+
Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj

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

 MP:0002551 abnormal blood coagulation "altered ability or inability of the blood to clot" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Gt(ROSA)26Sortm1(CAG-Etv2,-GFP)Hkata/Gt(ROSA)26Sor+,Meox1tm1(cre)Jpa/Meox1+
Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj

 MP:0002590 increased mean corpuscular volume "greater than the average amount of space occupied by each red blood cell, calculated from the hematocrit and red cell count, in erythrocyte indices" [cwg:Carroll-Ann W. Goldsmith , Mouse Genome Informatics curator, Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Nbeal2tm1a(EUCOMM)Wtsi/Nbeal2tm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Nbeal2tm1a(EUCOMM)Wtsi/Wtsi

 MP:0002599 increased mean platelet volume "increased content of platelet cells over the norm" [cml:Cathleen M. Lutz, 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: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]
Show

Allelic Composition: Gt(ROSA)26Sortm1(CAG-Etv2,-GFP)Hkata/Gt(ROSA)26Sor+,Meox1tm1(cre)Jpa/Meox1+
Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj

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

Allelic Composition: Nbeal2gps/Nbeal2gps
Genetic Background: 129S1/SvImJ-Nbeal2gps

 MP:0003405 abnormal platelet shape 
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Allelic Composition: Nbeal2tm1a(EUCOMM)Wtsi/Nbeal2tm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Nbeal2tm1a(EUCOMM)Wtsi/Wtsi

 MP:0004720 abnormal platelet morphology "any structural anomaly of blood plasma cells derived from megakaryocytes, which function to promote blood clotting" [MESH:National Library of Medicine_Medical Subject Headings]
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Allelic Composition: Gt(ROSA)26Sortm1(CAG-Etv2,-GFP)Hkata/Gt(ROSA)26Sor+,Meox1tm1(cre)Jpa/Meox1+
Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj

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

 MP:0005164 abnormal response to injury "anomaly in the body s reaction to trauma, especially that by physical means" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
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Allelic Composition: Gt(ROSA)26Sortm1(CAG-Etv2,-GFP)Hkata/Gt(ROSA)26Sor+,Meox1tm1(cre)Jpa/Meox1+
Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj

 MP:0005477 increased circulating thyroxine level "greater than the normal blood concentration of the major hormone dervied from the thryoid gland; it normally affects cellular metabolism" [MeSH:National Library of Medicine - Medical Subject Headings , 2003, 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: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: Gt(ROSA)26Sortm1(CAG-Etv2,-GFP)Hkata/Gt(ROSA)26Sor+,Meox1tm1(cre)Jpa/Meox1+
Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj

 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: Gt(ROSA)26Sortm1(CAG-Etv2,-GFP)Hkata/Gt(ROSA)26Sor+,Meox1tm1(cre)Jpa/Meox1+
Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj

 MP:0006298 abnormal platelet activation "anomaly in the series of progressive, overlapping events triggered by exposure of platelets to signals from subendothelial tissue, including shape change, adhesiveness, aggregation, and release reactions; when carried through to completion, these events lead to the formation of a stable hemostatic plug" [GO:0030168, MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
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Allelic Composition: Gt(ROSA)26Sortm1(CAG-Etv2,-GFP)Hkata/Gt(ROSA)26Sor+,Meox1tm1(cre)Jpa/Meox1+
Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj

 MP:0008254 increased megakaryocyte cell number "greater number of giant cells 50 to 100 micron in diameter, with a greatly lobulated nucleus, found in the bone marrow; mature blood platelets are released from its cytoplasm" [CL:0000556, ISBN:0721601464]
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Allelic Composition: Gt(ROSA)26Sortm1(CAG-Etv2,-GFP)Hkata/Gt(ROSA)26Sor+,Meox1tm1(cre)Jpa/Meox1+
Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj

 MP:0009549 impaired platelet aggregation "decrease in the ability of one platelet to one or more other platelets via adhesion molecules" [GO:0070527]
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Allelic Composition: Gt(ROSA)26Sortm1(CAG-Etv2,-GFP)Hkata/Gt(ROSA)26Sor+,Meox1tm1(cre)Jpa/Meox1+
Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj

 MP:0010124 decreased bone mineral content "reduction in the amount (usually in grams/cm) of bone mineral divided by a bone-scanned area" [MGI: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:0011747 myelofibrosis "appearance of fibrous connective tissue in the bone marrow, often resulting from inflammation or injury; especially replacement of the marrow with collagenous connective tissue fibers, frequently accompanied by splenomegaly and anemia or cytopenias" [ISBN:0-683-40008-8]
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Allelic Composition: Nbeal2tm1a(EUCOMM)Wtsi/Nbeal2tm1a(EUCOMM)Wtsi
Genetic Background: C57BL/6N-Nbeal2tm1a(EUCOMM)Wtsi/Wtsi

 MP:0012197 impaired myofibroblast differentiation 
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Allelic Composition: Gt(ROSA)26Sortm1(CAG-Etv2,-GFP)Hkata/Gt(ROSA)26Sor+,Meox1tm1(cre)Jpa/Meox1+
Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj

 MP:0020399 enhanced megakaryocyte emperipolesis "an increase in the process by which a a megakaryocyte is penetrated by another living cell" [PMID:25654060, PMID:26950939]
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Allelic Composition: Gt(ROSA)26Sortm1(CAG-Etv2,-GFP)Hkata/Gt(ROSA)26Sor+,Meox1tm1(cre)Jpa/Meox1+
Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj

Allelic Composition: Nbeal2gps/Nbeal2gps
Genetic Background: 129S1/SvImJ-Nbeal2gps

 MP:0020431 decreased platelet alpha-granule number "decreased number of platelet alpha-granules" []
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Allelic Composition: Gt(ROSA)26Sortm1(CAG-Etv2,-GFP)Hkata/Gt(ROSA)26Sor+,Meox1tm1(cre)Jpa/Meox1+
Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj

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

Allelic Composition: Nbeal2gps/Nbeal2gps
Genetic Background: 129S1/SvImJ-Nbeal2gps

  


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






 

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