ENSMUSG00000027799


Mus musculus

Features
Gene ID: ENSMUSG00000027799
  
Biological name :Nbea
  
Synonyms : Nbea / Neurobeachin / Q9EPN1
  
Possible biological names infered from orthology : Q8NFP9
  
Species: Mus musculus
  
Chr. number: 3
Strand: -1
Band: C
Gene start: 55625195
Gene end: 56183701
  
Corresponding Affymetrix probe sets: 10498210 (MoGene1.0st)   1440860_at (Mouse Genome 430 2.0 Array)   1452251_at (Mouse Genome 430 2.0 Array)   1457290_at (Mouse Genome 430 2.0 Array)   
  
Cross references: Ensembl peptide - ENSMUSP00000029374
NCBI entrez gene - 26422     See in Manteia.
MGI - MGI:1347075
RefSeq - XM_017319588
RefSeq - NM_030595
RefSeq - XM_017319586
RefSeq - XM_017319587
RefSeq - XM_006501519
RefSeq - XM_006501520
RefSeq - XM_006501521
RefSeq - XM_006501522
RefSeq - XM_006501523
RefSeq - XM_006501527
RefSeq - XM_011240127
RefSeq Peptide - NP_085098
swissprot - Q9EPN1
Ensembl - ENSMUSG00000027799
  
See expression report in BioGPS
See gene description in Wikigenes
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 nbeaaENSDARG00000070080Danio rerio
 nbeabENSDARG00000105184Danio rerio
 ENSGALG00000045592Gallus gallus
 ENSGALG00000017062Gallus gallus
 NBEAENSG00000172915Homo sapiens


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
Lrba / LPS responsive beige-like anchor protein / P50851*ENSMUSG0000002808063
Nbeal2 / Q6ZQA0 / Neurobeachin-like protein 2 / Q6ZNJ1* / neurobeachin like 2*ENSMUSG0000005672419
Nbeal1 / neurobeachin like 1 / Q6ZS30*ENSMUSG0000007366418
Lyst / lysosomal trafficking regulator / Q99698*ENSMUSG0000001972616
Wdfy3 / Q6VNB8 / WD repeat and FYVE domain containing 3 / Q8IZQ1*ENSMUSG0000004394015
Wdfy4 / WD repeat and FYVE domain containing 4 / Q6ZS81* / WDFY family member 4*ENSMUSG0000005150614
Nsmaf / O35242 / neutral sphingomyelinase (N-SMase) activation associated factor / Q92636* / neutral sphingomyelinase activation associated factor*ENSMUSG000000282459
Wdr81 / Q5ND34 / WD repeat domain 81 / Q562E7*ENSMUSG000000453749


Protein motifs (from Interpro)
Interpro ID Name
 IPR000409  BEACH domain
 IPR001680  WD40 repeat
 IPR010508  Domain of unknown function DUF1088
 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
 IPR031570  Domain of unknown function DUF4704
 IPR036322  WD40-repeat-containing domain superfamily
 IPR036372  BEACH domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006605 protein targeting ISS
 biological_processGO:0006892 post-Golgi vesicle-mediated transport NAS
 biological_processGO:0008104 protein localization IDA
 cellular_componentGO:0005802 trans-Golgi network IDA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0012505 endomembrane system IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0030054 cell junction IEA
 cellular_componentGO:0045202 synapse IEA
 cellular_componentGO:0045211 postsynaptic membrane NAS
 molecular_functionGO:0005488 binding IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0019901 protein kinase binding IDA
 molecular_functionGO:0051018 protein kinase A binding NAS


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 MP:0000738 impaired muscle contractility "inability or reduced ability of a muscle to shorten or to develop increased tension" [Stedman s Medical Dictionary:ISBN 0-683-40008-8]
Show

Allelic Composition: NbeaTg(GH1)240BNec/NbeaTg(GH1)240BNec
Genetic Background: involves: C57BL/6 * SJL

 MP:0001262 decreased body weight "lower than normal average weight " [J:61295]
Show

Allelic Composition: Ddctm1.1Nwlh/Ddctm1.1Nwlh
Genetic Background: involves: C57BL/6

 MP:0001265 reduced body size "smaller than average body weight, height and/or length of an organism compared to controls" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, J:23170]
Show

Allelic Composition: Gnai2tm1Lbi/Gnai2tm1Lbi
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0001360 abnormal social investigation "altered behavior of animals to approach and examine other animals" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
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Allelic Composition: Ddctm1.1Nwlh/Ddctm1.1Nwlh
Genetic Background: involves: C57BL/6

 MP:0001402 hypoactivity "reduced movement from one place to another" [Stedman s Medical Dictionary , 27th edition:ISBN 0-683-40008-8, csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, J:64289]
Show

Allelic Composition: Ddctm1.1Nwlh/Ddctm1.1Nwlh
Genetic Background: involves: C57BL/6

 MP:0001404 no spontaneous movement "failure to make any change in position or posture" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, MGI:CLS, J:60159]
Show

Allelic Composition: Clpstm1Lowe/Clpstm1Lowe
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: NbeaTg(GH1)240BNec/NbeaTg(GH1)240BNec
Genetic Background: involves: C57BL/6 * SJL

 MP:0001441 increased grooming behavior "increased amount of time spent cleaning and/or keeping outward appearance tidy (self, mate or offspring)" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ddctm1.1Nwlh/Ddctm1.1Nwlh
Genetic Background: involves: C57BL/6

 MP:0001463 abnormal spatial learning "defects in the abilibity to navigate using behavioraly meaningful locations" [CFG:Center for Functional Genomics , Northwestern University]
Show

Allelic Composition: Ddctm1.1Nwlh/Ddctm1.1Nwlh
Genetic Background: involves: C57BL/6

 MP:0001491 unresponsive to tactile stimuli "absence of reflex action normally induced by touch or pain" [J:43515, J:47439]
Show

Allelic Composition: Clpstm1Lowe/Clpstm1Lowe
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: NbeaTg(GH1)240BNec/NbeaTg(GH1)240BNec
Genetic Background: involves: C57BL/6 * SJL

 MP:0001575 cyanosis "a dark bluish or purple skin discoloration resulting from deficient oxygenation of the blood" [Stedman s Medical Dictionary:ISBN 0-683-40008-8, J:60159]
Show

Allelic Composition: Clpstm1Lowe/Clpstm1Lowe
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: NbeaTg(GH1)240BNec/NbeaTg(GH1)240BNec
Genetic Background: involves: C57BL/6 * SJL

 MP:0002176 high brain weight "greater than average weight of the brain" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator]
Show

Allelic Composition: Ddctm1.1Nwlh/Ddctm1.1Nwlh
Genetic Background: involves: C57BL/6

 MP:0002206 abnormal CNS synaptic transmission "defect in the communication from a neuron to a target across a synapse in the central nervous system" [MeSH:National Library of Medicine - Medical Subject Headings , 2003]
Show

Allelic Composition: Clpstm1Lowe/Clpstm1Lowe
Genetic Background: involves: 129S6/SvEvTac

 MP:0002557 abnormal social/conspecific interaction "deviation of the normal behavior of mice towards each other" [csmith:Cynthia L. Smith, Mouse Genome Informatics Curator]
Show

Allelic Composition: Ddctm1.1Nwlh/Ddctm1.1Nwlh
Genetic Background: involves: C57BL/6

 MP:0002910 abnormal excitatory postsynaptic currents "defect in the size or duration of currents detected in postsynaptic cells when an excitatory impulse arrives at the synapse causing depolarization" [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Clpstm1Lowe/Clpstm1Lowe
Genetic Background: involves: 129S6/SvEvTac

 MP:0002945 abnormal inhibitory postsynaptic currents "defect in the size or duration of currents detected in postsynaptic cells when an inhibitory impulse arrives at the synapse causing hyperpolarization" [csmith:Cynthia L. Smith , Mouse Genome Informatics Curator, Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3]
Show

Allelic Composition: Clpstm1Lowe/Clpstm1Lowe
Genetic Background: involves: 129S6/SvEvTac

 MP:0003008 enhanced long term potentiation "greater than the normal persistent robust synaptic response induced by synchronous stimulation of pre- and postsynaptic cells " [Principles of Neural Science , 3rd edition:ISBN 0-8385-8034-3, J:81922]
Show

Allelic Composition: Ddctm1.1Nwlh/Ddctm1.1Nwlh
Genetic Background: involves: C57BL/6

 MP:0003816 abnormal pituitary gland development "malformation or incomplete differentiation of the compound gland suspended from the base of the hypothalamus, which secretes somatotropins, prolactin, TSH (thyroid-stimulating hormone), gonadotropins, adrenal corticotropin" [smb:Susan M Bello, Mouse Genome Informatics Curator, J:51160]
Show

Allelic Composition: Gnai2tm1Lbi/Gnai2tm1Lbi
Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

 MP:0004753 abnormal miniature excitatory postsynaptic currents "defect in the size or duration of spontaneous currents detected in postsynaptic cells that occur in the absence of an excitatory impulse" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Clpstm1Lowe/Clpstm1Lowe
Genetic Background: involves: 129S6/SvEvTac

 MP:0004792 abnormal synaptic vesicle number "anomaly in the number of the small, membrane bound sacs that contain various neurotransmitter molecules that are concentrated at pre-synaptic membranes and release the neurotransmitters by fusion of these vesicles with the presynaptic membrane, followed by exocytosis of their contents" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Clpstm1Lowe/Clpstm1Lowe
Genetic Background: involves: 129S6/SvEvTac

 MP:0004835 abnormal miniature endplate potential "defect in the size or duration of spontaneous currents detected in PNS postsynaptic cells that occur in the absence of an excitatory impulse" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: NbeaTg(GH1)240BNec/NbeaTg(GH1)240BNec
Genetic Background: involves: C57BL/6 * SJL

 MP:0006320 abnormal interscapular fat pad "any structural anomaly of the encapsulated adipose tissue located between the scapulae" [MGI:rbabiuk "Randall Babiuk, Mouse Genome Informatics Curator", MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Clpstm1Lowe/Clpstm1Lowe
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: NbeaTg(GH1)240BNec/NbeaTg(GH1)240BNec
Genetic Background: involves: C57BL/6 * SJL

 MP:0009435 abnormal miniature inhibitory postsynaptic currents "defect in the size or duration of spontaneous currents detected in postsynaptic cells that occur in the absence of an inhibitory impulse" [MGI:csmith "Cynthia L. Smith, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Clpstm1Lowe/Clpstm1Lowe
Genetic Background: involves: 129S6/SvEvTac

 MP:0009453 enhanced contextual conditioning "increase in the ability of an animal to learn and remember an association between an aversive experience (the unconditioned stimulus (US), usually a shock) and the neutral, unchanging environment (the conditioned stimulus (CS), or the environmental context in this case)" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator"]
Show

Allelic Composition: Ddctm1.1Nwlh/Ddctm1.1Nwlh
Genetic Background: involves: C57BL/6

 MP:0009538 abnormal synapse morphology "any strucutral anomaly of the membrane junction site of a nerve cell to a target cell, such as another nerve cell, an effector cell, or a sensory receptor cell; transmission of nerve impulses may be mediated by chemical or by electrical means" [ISBN:0-683-40008-8 "Stedman s Medical Dictionary, 27th edition", MESH:A08.850]
Show

Allelic Composition: Clpstm1Lowe/Clpstm1Lowe
Genetic Background: involves: 129S6/SvEvTac

 MP:0010146 umbilical hernia "an outward bulging (protrusion) of the abdominal lining or part of the abdominal organ(s) through the area around the umbilicus; occurs when the muscle through which blood vessels pass to feed the developing fetus fails to completely close" [MGI:smb "Susan M. Bello, Mouse Genome Informatics Curator", PMID:20333300]
Show

Allelic Composition: Clpstm1Lowe/Clpstm1Lowe
Genetic Background: involves: 129S6/SvEvTac

 MP:0011087 complete neonatal lethality "death of all organisms of a given genotype in a population within the neonatal period after birth (Mus: P0)" [MGI:csmith]
Show

Allelic Composition: Clpstm1Lowe/Clpstm1Lowe
Genetic Background: involves: 129S6/SvEvTac

Allelic Composition: NbeaTg(GH1)240BNec/NbeaTg(GH1)240BNec
Genetic Background: involves: C57BL/6 * SJL

  


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






 

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