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Nbea
Gene Detail
 Symbol
Name
ID
Nbea
neurobeachin
MGI:1347075
Synonyms mKIAA1544
Feature Type protein coding gene
Genetic Map
Chromosome 3
26.61 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr3:55625205-56183701 bp, - strand
From Ensembl annotation of GRCm38

  558497 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:69190  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Nbea

Human
homologs
Human Homolog NBEA, neurobeachin
NCBI Gene ID 26960
neXtProt AC  NX_Q8NFP9
Human Synonyms  BCL8B, LYST2
Human Chr (Location)  13q13; chr13:34942287-35672737 (+)  GRCh38
Alleles
and
phenotypes
All alleles(4) : Gene trapped(3) Transgenic(1)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a gene trapped allele or transgene insertion die shortly after birth, are cyanotic, and exhibit no response to tactile stimuli, no spontaneous movement, and impaired CNS synaptic transmission.
 
Human Diseases Modeled Using Mouse Nbea (1)    Alleles Annotated to Human Diseases(1)   
Gene Ontology
(GO)
classifications
All GO classifications: (15 annotations)
Process post-Golgi vesicle-mediated transport, protein localization, ...
Component cell, cell junction, ...
Function protein kinase A binding, protein kinase binding
External Resources: FuncBase
Expression
Literature Summary: (3 records)
Data Summary: Results (59)    Tissues (35)   
Theiler Stages: 11, 13, 15, 17, 19, 20, 21, 26, 28
Assay TypeResults
RNA in situ 29
Northern blot 7
RT-PCR 21
RNase protection 2
cDNA source data(114)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(120) cDNA(116) Primer pair(4)
Microarray probesets(2)
Other database
links
Ensembl Gene ModelENSMUSG00000027799 (Evidence)
Entrez Gene26422 (Evidence)
UniGene384353
DFCITC1582245, TC1597512
DoTSDT.101183433, DT.521878
Consensus CDS ProjectCCDS50911.1
International Mouse Knockout Project StatusNbea
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000027799 Ensembl Gene Model | MGI Sequence Detail 558497 C57BL/6J ±  kb
transcript ENSMUST00000029374 Ensembl | MGI Sequence Detail 10976 Not Applicable 
polypeptide ENSMUSP00000029374 Ensembl | MGI Sequence Detail 2936 Not Applicable 

For the selected sequences
All sequences(37) RefSeq(20) UniProt(2)
Polymorphisms RFLP(2) : SNPs within 2kb(3639 from dbSNP Build 137)    SNPs within 2kb including multiple locations(3649)
Protein-related
information
ResourceIDDescription
InterPro IPR016024 Armadillo-type fold
InterPro IPR000409 BEACH domain
InterPro IPR008985 Concanavalin A-like lectin/glucanases superfamily
InterPro IPR013320 Concanavalin A-like lectin/glucanase, subgroup
InterPro IPR010508 Domain of unknown function DUF1088
InterPro IPR023362 PH-BEACH domain
InterPro IPR001680 WD40 repeat
InterPro IPR017986 WD40-repeat-containing domain
InterPro IPR015943 WD40/YVTN repeat-like-containing domain
Protein Ontology PR:000011010 neurobeachin
References (Earliest) J:129701 Jones BK, et al., The human growth hormone gene is regulated by a multicomponent locus control region. Mol Cell Biol. 1995 Dec;15(12):7010-21
(Latest) J:197577 Nuytens K, et al., Haploinsufficiency of the autism candidate gene Neurobeachin induces autism-like behaviors and affects cellular and molecular processes of synaptic plasticity in mice. Neurobiol Dis. 2013 Mar;51:144-51
All references(31)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory