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NBEA Gene

protein-coding   GIFtS: 60
GCID: GC13P035516

Neurobeachin

  See NBEA-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
neurobeachin1 2     KIAA15443
Lysosomal-Trafficking Regulator 22 3     Protein BCL8B3
BCL8B2 3     EC 1.14.14.58
LYST22 3     EC 6.1.1.118

External Ids:    HGNC: 76481   Entrez Gene: 269602   Ensembl: ENSG000001729157   OMIM: 6048895   UniProtKB: Q8NFP93   

Export aliases for NBEA gene to outside databases

Previous GC identifers: GC13P033850 GC13P029502 GC13P034453 GC13P033314 GC13P034414 GC13P016329


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for NBEA Gene:
This gene encodes a member of a large, diverse group of A-kinase anchor proteins that target the activity of
protein kinase A to specific subcellular sites by binding to its type II regulatory subunits. Brain-specific
expression and coat protein-like membrane recruitment of a highly similar protein in mouse suggest an involvement
in neuronal post-Golgi membrane traffic. Mutations in this gene may be associated with a form of autism. This
gene and its expression are frequently disrupted in patients with multiple myeloma. Alternative splicing results
in multiple transcript variants encoding distinct isoforms. Additional transcript variants may exist, but their
full-length nature has not been determined.(provided by RefSeq, Feb 2011)

GeneCards Summary for NBEA Gene:
NBEA (neurobeachin) is a protein-coding gene. Diseases associated with NBEA include myeloma, and multiple myeloma. GO annotations related to this gene include protein kinase binding. An important paralog of this gene is NSMAF.

UniProtKB/Swiss-Prot: NBEA_HUMAN, Q8NFP9
Function: Binds to type II regulatory subunits of protein kinase A and anchors/targets them to the membrane. May
anchor the kinase to cytoskeletal and/or organelle-associated proteins (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000013.10  NT_024524.15  NC_018924.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NBEA gene promoter:
         CRE-BP1   AREB6   ATF-2   NRSF form 1   Pax-2a   TGIF   NRSF form 2   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNBEA promoter sequence
   Search Chromatin IP Primers for NBEA

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NBEA


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 13q13   Ensembl cytogenetic band:  13q13.3   HGNC cytogenetic band: 13q13

NBEA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NBEA gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13P035516:  view genomic region     (about GC identifiers)

Start:
35,516,424 bp from pter      End:
36,247,159 bp from pter
Size:
730,736 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: NBEA_HUMAN, Q8NFP9 (See protein sequence)
Recommended Name: Neurobeachin  
Size: 2946 amino acids; 327822 Da
Subunit: Interacts with RII subunit of PKA (By similarity)
Sequence caution: Sequence=AAD41633.1; Type=Frameshift; Positions=2900; Sequence=BAA91485.1; Type=Erroneous
termination; Positions=762; Note=Translated as Trp;
1 PDB 3D structure from and Proteopedia for NBEA:
1MI1 (3D)    
Secondary accessions: B7Z2H9 Q5T320 Q9HCM8 Q9NSU1 Q9NW98 Q9Y6J1
Alternative splicing: 3 isoforms:  Q8NFP9-1   Q8NFP9-2   Q8NFP9-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NBEA: NX_Q8NFP9

Explore proteomics data for NBEA at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys2345
  • Modification sites at PhosphoSitePlus
  • 2 DME Specific Peptides for NBEA (Q8NFP9)
     AKLERAL  NLVTGGD 


    See NBEA Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001191126.1  NP_056493.3  

    ENSEMBL proteins: 
     ENSP00000369271   ENSP00000369254   ENSP00000440951   ENSP00000383295   ENSP00000308534  
     ENSP00000440233  

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    Cloud-Clone Corp. Proteins for NBEA

     
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    antibodies-online proteins for NBEA (2 products) 

     
    antibodies-online peptides for NBEA

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    WDR: WD repeat domain containing
    AKAP: A-kinase anchor proteins

    Selected InterPro protein domains (see all 9):
     IPR000409 BEACH_dom
     IPR013320 ConA-like_subgrp
     IPR023362 PH-BEACH_dom
     IPR010508 DUF1088
     IPR001680 WD40_repeat

    Graphical View of Domain Structure for InterPro Entry Q8NFP9

    ProtoNet protein and cluster: Q8NFP9

    1 Blocks protein domain: IPB000409 Beige/BEACH domain

    UniProtKB/Swiss-Prot: NBEA_HUMAN, Q8NFP9
    Domain: RII-alpha binding site, predicted to form an amphipathic helix, could participate in protein-protein
    interactions with a complementary surface on the R-subunit dimer (By similarity)
    Similarity: Belongs to the WD repeat neurobeachin family
    Similarity: Contains 1 BEACH domain
    Similarity: Contains 5 WD repeats


    Find genes that share domains with NBEA           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NBEA_HUMAN, Q8NFP9
    Function: Binds to type II regulatory subunits of protein kinase A and anchors/targets them to the membrane. May
    anchor the kinase to cytoskeletal and/or organelle-associated proteins (By similarity)

         Genatlas biochemistry entry for NBEA:
    neurobeachin,cytosolic protein,specifically expressed in brain,peripherally associated with several membrane
    compartments including trans-Golgi network and endosome-like structures,may be involved in membrane trafficking
    events

         Enzyme Numbers (IUBMB): EC 6.1.1.112 EC 1.14.14.52

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005488binding ----
    GO:0005515protein binding ----
    GO:0019901protein kinase binding IEA--
         
    Find genes that share ontologies with NBEA           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for NBEA:
     Increased S DNA content 

         9 MGI mutant phenotypes (inferred from 1 allele(MGI details for Nbea):
     adipose tissue  behavior/neurological  cardiovascular system  embryogenesis  homeostasis/metabolism 
     integument  mortality/aging  nervous system  respiratory system 

    Find genes that share phenotypes with NBEA           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for NBEA

    miRNA
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    miRTarBase miRNAs that target NBEA:
    hsa-mir-335-5p (MIRT016751), hsa-mir-548b-3p (MIRT016246), hsa-mir-935 (MIRT036648), hsa-mir-18a-5p (MIRT050693), hsa-mir-21-5p (MIRT030706), hsa-mir-9-5p (MIRT021372), hsa-mir-128-3p (MIRT021882)

    Block miRNA regulation of human, mouse, rat NBEA using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NBEA (see all 118):
    hsa-miR-124* hsa-miR-300 hsa-miR-188-5p hsa-miR-106a hsa-miR-3653 hsa-miR-342-3p hsa-miR-519a hsa-miR-409-5p
    SwitchGear 3'UTR luciferase reporter plasmidNBEA 3' UTR sequence
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NBEA_HUMAN, Q8NFP9: Cytoplasm (By similarity). Membrane; Peripheral membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol4
    plasma membrane4
    cytoskeleton1
    endoplasmic reticulum1
    golgi apparatus1
    lysosome1
    nucleus1
    vacuole1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005802trans-Golgi network ISS--
    GO:0005829cytosol ISS--
    GO:0005886plasma membrane ISS--
    GO:0012505endomembrane system ISS--

    Find genes that share ontologies with NBEA           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NBEA
    Interactions:

        Search GeneGlobe Interaction Network for NBEA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for NBEA (Q8NFP92, 3 ENSP000003832954) via UniProtKB, MINT, STRING, and/or I2D (see all 30)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ABL1P005192, 3, ENSP000003614234MINT-8110563 I2D: score=3 STRING: ENSP00000361423
    STRN4Q9NRL32, 3MINT-65610 I2D: score=5 
    DTNBP1Q96EV83, ENSP000003416804I2D: score=2 STRING: ENSP00000341680
    FYNP062413, ENSP000003576564I2D: score=2 STRING: ENSP00000357656
    HRASP011123, ENSP000003098454I2D: score=1 STRING: ENSP00000309845
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008104protein localization IEA--

    Find genes that share ontologies with NBEA           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NBEA



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for NBEA gene (2 alternative transcripts): 
    NM_001204197.1  NM_015678.4  

    Unigene Cluster for NBEA:

    Neurobeachin
    Hs.491172  [show with all ESTs]
    Unigene Representative Sequence: NM_015678
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000379939(uc010abi.3 uc010tee.1 uc010tef.2) ENST00000497540
    ENST00000379922(uc001uvd.3) ENST00000461581 ENST00000540320 ENST00000400445(uc021ric.1 uc021rid.1)
    ENST00000310336 ENST00000537702(uc010teg.1)
    miRNA
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    Block miRNA regulation of human, mouse, rat NBEA using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NBEA (see all 118):
    hsa-miR-124* hsa-miR-300 hsa-miR-188-5p hsa-miR-106a hsa-miR-3653 hsa-miR-342-3p hsa-miR-519a hsa-miR-409-5p
    SwitchGear 3'UTR luciferase reporter plasmidNBEA 3' UTR sequence
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      QuantiFast Probe-based Assays in human, mouse, rat NBEA

    Additional mRNA sequence: 

    AB046764.1 AF467288.1 AK001059.1 AK091469.1 AK095211.1 AK122888.1 AK127791.1 AK294737.1 
    AK297773.1 AK315939.1 AL137748.1 BX640760.1 

    11 DOTS entries:

    DT.453261  DT.100777196  DT.100777199  DT.100009107  DT.120770704  DT.99936167  DT.100013451  DT.120770823 
    DT.100705514  DT.120770713  DT.99968579 

    Selected AceView cDNA sequences (see all 44):

    BX485602 AK095211 CA396077 AK001059 BU787470 BP349231 BQ640480 CD723926 
    CA848683 BF328605 BU078632 BX471701 BP361513 BP377553 BM925555 AU118985 
    BU069402 CA842744 BU078918 BI033118 BU069614 CA778386 BU787749 AA633055 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NBEA expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTTTATTGCA
    NBEA Expression
    About this image


    NBEA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Pancreas (Endocrine System)
             Islets of Langerhans
     
     Limb (Muscoskeletal System)
             Prechondrocytic Mesenchymal Cells Zeugopod
     
     Testis (Reproductive System)
             Leydig Cells Testis Interstitium
     
     Bone (Muscoskeletal System)
             Prechondrocytic Mesenchymal Cells Zeugopod
    NBEA Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NBEA Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.491172

    UniProtKB/Swiss-Prot: NBEA_HUMAN, Q8NFP9
    Tissue specificity: Predominant in many brain structures. Also expressed at medium levels in spleen, thymus,
    prostate, testis and ovary. Low level expression is seen in heart, kidney, pancreas, skeletal muscle and
    intestine

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals and fungi.

    Orthologs for NBEA gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nbea1 , 5 neurobeachin1, 5 89.83(n)1
    97.58(a)1
      3 (26.61 cM)5
    264221  NM_030595.11  NP_085098.11 
     556252055 
    chicken
    (Gallus gallus)
    Aves NBEA1 neurobeachin 85.44(n)
    96.63(a)
      395195  NM_001252140.1  NP_001239069.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    96(a)
    90(a)
    1 ↔ many
    1 ↔ many
    3(182179825-182536893)
    3(182179825-182552431)
    African clawed frog
    (Xenopus laevis)
    Amphibia CD361314.12   -- 88.26(n)    CD361314.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5658851 neurobeachin-like 73.25(n)
    85.44(a)
      565885  XM_001920692.2  XP_001920727.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta rg1 rugose 59.3(n)
    61.46(a)
      44531  NM_001144685.1  NP_001138157.1 
    worm
    (Caenorhabditis elegans)
    Secernentea sel-21 sel-2 53.07(n)
    47.63(a)
      175606  NM_065538.5  NP_497939.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes BPH16
    PProtein homologous to human Chediak-Higashi syndr...
    19(a)
    1 → many
    III(179520-186023) YCR032W


    ENSEMBL Gene Tree for NBEA (if available)
    TreeFam Gene Tree for NBEA (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NBEA gene
    NSMAF2  LYST2  NBEAL12  WDFY42  LRBA2  WDFY32  NBEAL22  
    5 SIMAP similar genes for NBEA using alignment to 3 protein entries:     NBEA_HUMAN (see all proteins):
    DKFZp686I03263    DKFZp686K03100    NBEAP1    C2orf27    LRBA

    Find genes that share paralogs with NBEA           About GenesLikeMe


    Selected Pseudogenes.org Pseudogenes for NBEA (see all 6)
    PGOHUM00000247715 PGOHUM00000248012 PGOHUM00000246623 PGOHUM00000246634 PGOHUM00000246184


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NBEA (see all 13368)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1155858461,2
    C,F--16329026(+) AGAGGG/AGGTGC 1 -- us2k11Minor allele frequency- A:0.07WA 118
    rs583660951,2
    C--16329034(+) TGCACC/TGAGGG 1 -- us2k10--------
    rs1135658431,2
    C--16331482(+) AAGATAAAG/-  
            
    AAATC
    1 -- int11Minor allele frequency- -:0.00CSA 2
    rs1497752691,2
    C--16339584(+) ATAAC-/TTGCAGC 1 -- int10--------
    rs1477352311,2
    C--16343851(+) CACAC-/ATATATA 1 -- int10--------
    rs1910653391,2
    --16371290(+) GTTGCA/GTATGA 1 -- int10--------
    rs1425328041,2
    C--16371398(+) TTTCAC/TGATAT 1 -- int10--------
    rs1839282111,2
    --16371399(+) TTCACA/GATATT 1 -- int10--------
    rs1884831261,2
    --16371609(+) AGGAAA/TGCTTG 1 -- int10--------
    rs1467677251,2
    --16371779(+) TATTTC/GTTTCT 1 -- int10--------

    HapMap Linkage Disequilibrium report for NBEA (35516424 - 35766424 bp, first 250kb of NBEA)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for NBEA (see all 28):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2558098CNV Deletion19546169
    esv2668233CNV Deletion23128226
    esv2026049CNV Deletion18987734
    esv2661190CNV Deletion23128226
    esv2747258CNV Deletion23290073
    esv2747257CNV Deletion23290073
    esv2747259CNV Deletion23290073
    esv270120CNV Insertion20981092
    esv269030CNV Insertion20981092
    nsv1001CNV Insertion18451855

    Human Gene Mutation Database (HGMD): NBEA
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NBEA
    DNA2.0 Custom Variant and Variant Library Synthesis for NBEA

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 604889    OMIM disorders: --

    3 diseases for NBEA:    
    About MalaCards
    myeloma    multiple myeloma    chediak-higashi syndrome

    2 diseases from the University of Copenhagen DISEASES database for NBEA:
    Chediak-Higashi syndrome     Autistic disorder

    Find genes that share disorders with NBEA           About GenesLikeMe

    Genetic Association Database (GAD): NBEA
    Human Genome Epidemiology (HuGE) Navigator: NBEA (5 documents)

    Export disorders for NBEA gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for NBEA gene, integrated from 10 sources (see all 39):
    (articles sorted by number of sources associating them with NBEA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The neurobeachin gene (Nbea) identifies a new region of homology between mouse central chromosome 3 and human chromosome 13q13. (PubMed id 10501977)1, 3, 9 Gilbert D.J....Kilimann M.W. (Mamm. Genome 1999)
    2. Crystal structure of the BEACH domain reveals an unusual fold and extensive association with a novel PH domain. (PubMed id 12234919)1, 2, 9 Jogl G.... Tong L. (EMBO J. 2002)
    3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    4. Common genetic variation and the control of HIV-1 in humans. (PubMed id 20041166)1, 4 Fellay J....Goldstein D.B. (PLoS Genet. 2009)
    5. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PubMed id 19086053)1, 4 GratacA^s M....Carracedo A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. BCL8 is a novel, evolutionarily conserved human gene family encoding proteins with presumptive protein kinase A anchoring function. (PubMed id 12160729)1, 2 Dyomin V.G.... Chaganti R.S.K. (Genomics 2002)
    8. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10997877)1, 2 Nagase T.... Ohara O. (DNA Res. 2000)
    9. Neurobeachin (NBEA) is a target of recurrent interstitial deletions at 13q13 in patients with MGUS and multiple myeloma. (PubMed id 19135901)1, 9 O'Neal J....Tomasson M.H. (Exp. Hematol. 2009)
    10. Genome-wide meta-analysis identifies new susceptibility loci for migraine. (PubMed id 23793025)1 Anttila V.... . (Nat. Genet. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 26960 HGNC: 7648 AceView: NBEA Ensembl:ENSG00000172915 euGenes: HUgn26960
    ECgene: NBEA H-InvDB: NBEA

    (According to HUGE)
    About This Section

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    HUGE: KIAA1544

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for NBEA Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for NBEA gene:
    Search GeneIP for patents involving NBEA

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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