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NBEAL2 Gene

protein-coding   GIFtS: 52
GCID: GC03P047021

Neurobeachin-Like 2

  See 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
Neurobeachin-Like 21 2
BDPLT42 5
GPS2 5
KIAA05403 5
Neurobeachin-Like Protein 22

External Ids:    HGNC: 319281   Entrez Gene: 232182   Ensembl: ENSG000001607967   OMIM: 6141695   UniProtKB: Q6ZNJ13   

Export aliases for NBEAL2 gene to outside databases

Previous GC identifer: GC03P046996


(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 NBEAL2 Gene:
The protein encoded by this gene contains a beige and Chediak-Higashi (BEACH) domain and multiple WD40 domains,
and may play a role in megakaryocyte alpha-granule biogenesis. Mutations in this gene are a cause of gray
platelet syndrome. (provided by RefSeq, Dec 2011)

GeneCards Summary for NBEAL2 Gene:
NBEAL2 (neurobeachin-like 2) is a protein-coding gene. Diseases associated with NBEAL2 include gray platelet syndrome, and thrombocytopenia. An important paralog of this gene is NSMAF.

UniProtKB/Swiss-Prot: NBEL2_HUMAN, Q6ZNJ1
Function: Probably involved in thrombopoiesis. Plays a role in the development or secretion of alpha-granules,
that contain several growth factors important for platelet biogenesis

Gene Wiki entry for NBEAL2 Gene


(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:
NC_000003.12  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NBEAL2 gene promoter:
         Max1   NF-1   MyoD   Lmo2   Nkx2-5   NF-kappaB   c-Ets-1   CP2   NF-kappaB1   c-Myc   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for NBEAL2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NBEAL2


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

Entrez Gene cytogenetic band: 3p21.31   Ensembl cytogenetic band:  3p21.31   HGNC cytogenetic band: 3p21.31

NBEAL2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NBEAL2 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P047021:  view genomic region     (about GC identifiers)

Start:
47,021,173 bp from pter      End:
47,051,193 bp from pter
Size:
30,021 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: NBEL2_HUMAN, Q6ZNJ1 (See protein sequence)
Recommended Name: Neurobeachin-like protein 2  
Size: 2754 amino acids; 302517 Da
Sequence caution: Sequence=BAC03994.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing;
Sequence=BAC85154.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: O60288 Q6P994 Q6UX91 Q8NAC9
Alternative splicing: 3 isoforms:  Q6ZNJ1-1   Q6ZNJ1-2   Q6ZNJ1-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NBEAL2: NX_Q6ZNJ1

Explore proteomics data for NBEAL2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys833, Lys855, Lys939, Lys1624, Lys1716, Lys1828, Lys1841, Lys2067, Lys2132, Lys2339
  • Modification sites at PhosphoSitePlus

  • See NBEAL2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_055990.1  
    ENSEMBL proteins: 
     ENSP00000415034   ENSP00000410405   ENSP00000414560   ENSP00000409601   ENSP00000415063  
     ENSP00000292309   ENSP00000373246  

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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

    Selected InterPro protein domains (see all 8):
     IPR000409 BEACH_dom
     IPR026916 NBEAL
     IPR023362 PH-BEACH_dom
     IPR001680 WD40_repeat
     IPR017986 WD40_repeat_dom

    Graphical View of Domain Structure for InterPro Entry Q6ZNJ1

    ProtoNet protein and cluster: Q6ZNJ1

    1 Blocks protein domain: IPB000409 Beige/BEACH domain

    UniProtKB/Swiss-Prot: NBEL2_HUMAN, Q6ZNJ1
    Similarity: Belongs to the WD repeat neurobeachin family
    Similarity: Contains 1 BEACH domain
    Similarity: Contains 5 WD repeats


    NBEAL2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NBEL2_HUMAN, Q6ZNJ1
    Function: Probably involved in thrombopoiesis. Plays a role in the development or secretion of alpha-granules,
    that contain several growth factors important for platelet biogenesis

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005488binding ----
    GO:0005515protein binding ----
         
    NBEAL2 for ontologies           About GeneDecksing


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Nbeal2):
     cellular  hematopoietic system  homeostasis/metabolism  immune system  nervous system 
     skeleton 

    NBEAL2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Nbeal2tm1Lex for NBEAL2

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    miRTarBase miRNAs that target NBEAL2:
    hsa-mir-93-5p (MIRT048906)

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    hsa-miR-3184 hsa-miR-125a-5p hsa-miR-1283 hsa-miR-137 hsa-miR-548o hsa-miR-423-5p hsa-miR-1323 hsa-miR-125b
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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
    NBEL2_HUMAN, Q6ZNJ1: Endoplasmic reticulum
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    cytosol3
    plasma membrane3
    endosome1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IDA--

    NBEAL2 for ontologies           About GeneDecksing


    (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 NBEAL2
    Interactions:

        Search GeneGlobe Interaction Network for NBEAL2

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for NBEAL2 (ENSP000004150344) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RABGEF1ENSP000002849574STRING: ENSP00000284957
    GGPS1ENSP000002828414STRING: ENSP00000282841
    UBCENSP000003448184STRING: ENSP00000344818
    ERBB3ENSP000002671014STRING: ENSP00000267101
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030220platelet formation IMP--

    NBEAL2 for ontologies           About GeneDecksing



    (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 NBEAL2 (NBEL2)



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for NBEAL2 gene: 
    NM_015175.2  

    Unigene Cluster for NBEAL2:

    Neurobeachin-like 2
    Hs.437043  [show with all ESTs]
    Unigene Representative Sequence: NM_015175
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000450053 ENST00000416683 ENST00000475689 ENST00000443829 ENST00000441027
    ENST00000486870 ENST00000423436 ENST00000476095 ENST00000461036 ENST00000477412
    ENST00000469349 ENST00000292309(uc003cqq.1 uc010hjm.2 uc010hjn.2)
    ENST00000383740(uc003cqp.3)
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate NBEAL2 (see all 14):
    hsa-miR-3184 hsa-miR-125a-5p hsa-miR-1283 hsa-miR-137 hsa-miR-548o hsa-miR-423-5p hsa-miR-1323 hsa-miR-125b
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      QuantiTect SYBR Green Assays in human, mouse, rat NBEAL2
      QuantiFast Probe-based Assays in human, mouse, rat NBEAL2

    Additional mRNA sequence: 

    AB011112.3 AK092871.1 AK131104.1 AK293387.1 AK301269.1 AY358455.1 BC029944.1 BC035894.1 
    BC060874.1 

    18 DOTS entries:

    DT.215969  DT.100818745  DT.100818742  DT.95130904  DT.100818744  DT.215970  DT.100818739  DT.120841734 
    DT.95369846  DT.100037017  DT.100818743  DT.120841711  DT.101975538  DT.92434392  DT.95369813  DT.95369923 
    DT.75132600  DT.92387987 

    Selected AceView cDNA sequences (see all 295):

    AA036799 BQ053537 BM824093 AW002832 CK820847 AB011112 AI653411 BM451095 
    AI651931 BM713902 BX282287 AI673191 BU195761 CA310152 BC035894 BM564620 
    AI336803 CB070301 BM705214 BI907973 AI380122 AI989644 BF062492 CF135487 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for NBEAL2 (see all 18)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15 ^ 16 ^ 17 ^ 18a · 18b ^ 19 ^ 20 ^ 21 ^ 22 ^
    SP1:        -                                                                                                                                                   
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                    -                                                                                       
    SP5:                                                                                                                                                            

    ExUns: 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b ^ 29a · 29b ^ 30 ^ 31 ^ 32 ^ 33a · 33b · 33c ^ 34 ^ 35a · 35b ^ 36 ^ 37 ^ 38a · 38b ^ 39a · 39b ^ 40a · 40b ^
    SP1:                                            -                                                                                                           -   
    SP2:              -           -     -           -                                                                                                           -   
    SP3:                                                                                                                                                        -   
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 41 ^ 42a · 42b ^ 43a · 43b ^ 44a · 44b ^ 45a · 45b ^ 46 ^ 47 ^ 48a · 48b · 48c ^ 49a · 49b · 49c ^ 50 ^ 51a · 51b ^ 52a · 52b ^ 53a · 53b ^ 54a · 54b ^
    SP1:  -     -                                                           -           -     -                       -           -                                 
    SP2:  -     -                                                           -           -     -                       -           -                                 
    SP3:  -     -                                                           -           -     -     -     -           -           -                                 
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 55 ^ 56 ^ 57a ·
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for NBEAL2

    (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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    NBEAL2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAGGTGGCCA
    NBEAL2 Expression
    About this image


    NBEAL2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Epithelial Cells
             Fetal Matrix Cells Hair Follicle
     
     Hair (Integumentary System)
             Fetal Matrix Cells Hair Follicle
    NBEAL2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NBEAL2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.437043

    UniProtKB/Swiss-Prot: NBEL2_HUMAN, Q6ZNJ1
    Tissue specificity: Expressed in megakaryocytes

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NBEAL2

    (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 NBEAL2 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nbeal21 , 5 neurobeachin-like 21, 5 84.74(n)1
    88.4(a)1
      9 (60.27 cM)5
    2356271  NM_183276.21  NP_899099.21 
     1106247895 
    chicken
    (Gallus gallus)
    Aves NBEAL21 neurobeachin-like 2 68.58(n)
    65.7(a)
      425984  XM_004939102.1  XP_004939159.1 
    lizard
    (Anolis carolinensis)
    Reptilia NBEAL26
    neurobeachin-like 2
    73(a)
    1 ↔ 1
    GL344345.1(35069-59389)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.117802 Xenopus laevis transcribed sequence with weak similarity to protein pirA43289 (H.sapiens) A43289 CDC4L protein - human (fragment) less 75.59(n)    AW158621.1 
    zebrafish
    (Danio rerio)
    Actinopterygii nbeal21 neurobeachin-like 2 61.11(n)
    58.13(a)
      100330830  XM_003200162.2  XP_003200210.2 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG433676
    --
    32(a)
    1 → many
    3L(4193993-4224003)
    worm
    (Caenorhabditis elegans)
    Secernentea T01H10.86
    Protein T01H10.8 (T01H10.8) mRNA, complete cds
    14(a)
    many ↔ many
    X(12128143-12141151) WBGene00011361
    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 NBEAL2 (if available)
    TreeFam Gene Tree for NBEAL2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NBEAL2 gene
    NSMAF2  LYST2  NBEAL12  WDFY42  LRBA2  NBEA2  WDFY32  
    5 SIMAP similar genes for NBEAL2 using alignment to 5 protein entries:     NBEL2_HUMAN (see all proteins):
    FLJ00082    LRBA    NBEAL1    WDFY3    DKFZp686K03100

    NBEAL2 for paralogs           About GeneDecksing



    (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)
    About This Section

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    Selected SNPs for NBEAL2 (see all 811)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0669834
    Gray platelet syndrome (GPS)4--see VAR_0669832 H Y mis40--------
    VAR_0669774
    Gray platelet syndrome (GPS)4--see VAR_0669772 E V mis40--------
    VAR_0669784
    Gray platelet syndrome (GPS)4--see VAR_0669782 W R mis40--------
    VAR_0669824
    Gray platelet syndrome (GPS)4--see VAR_0669822 P L mis40--------
    VAR_0669804
    Gray platelet syndrome (GPS)4--see VAR_0669802 E K mis40--------
    VAR_0669764
    Gray platelet syndrome (GPS)4--see VAR_0669762 L P mis40--------
    VAR_0669844
    Gray platelet syndrome (GPS)4--see VAR_0669842 S L mis40--------
    VAR_0669814
    Gray platelet syndrome (GPS)4--see VAR_0669812 R C mis40--------
    rs130825311,2
    C,A--46956418(+) TAGTGG/TCCAGG 1 -- int110Minor allele frequency- T:0.13NA WA CSA EA 253
    rs1863215271,2
    --46956436(+) TTTCAC/TGCCTG 1 -- int10--------

    HapMap Linkage Disequilibrium report for NBEAL2 (47021173 - 47051193 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for NBEAL2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv267561CNV Insertion20981092
    nsv876755CNV Loss21882294
    nsv428417CNV Loss18775914
    nsv876757CNV Loss21882294
    nsv876756CNV Gain21882294

    Human Gene Mutation Database (HGMD): NBEAL2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NBEAL2
    DNA2.0 Custom Variant and Variant Library Synthesis for NBEAL2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 614169   
    OMIM disorders: 139090  
    UniProtKB/Swiss-Prot: NBEL2_HUMAN, Q6ZNJ1
  • Gray platelet syndrome (GPS) [MIM:139090]: A rare platelet disorder characterized by a selective
    deficiency in the number and contents of platelet alpha-granules. It is associated with mild to moderate bleeding
    tendency and moderate thrombocytopenia. The platelets are enlarged and have a gray appearance on light microscopy
    of Wright-stained peripheral blood smears due to decreased granules. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 5 diseases for NBEAL2:    
    About MalaCards
    gray platelet syndrome    thrombocytopenia    schizophrenia    multiple myeloma
    myeloma


    NBEAL2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): NBEAL2
    Human Genome Epidemiology (HuGE) Navigator: NBEAL2 (1 document)

    Export disorders for NBEAL2 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)
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    PubMed articles for NBEAL2 gene, integrated from 10 sources (see all 21):
    (articles sorted by number of sources associating them with NBEAL2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet alpha-granules. (PubMed id 21765412)1, 2 Gunay-Aygun M.... Gahl W.A. (Nat. Genet. 2011)
    2. Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. (PubMed id 21765413)1, 2 Kahr W.H.... Di Paola J. (Nat. Genet. 2011)
    3. Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. (PubMed id 21765411)1, 2 Albers C.A.... Ouwehand W.H. (Nat. Genet. 2011)
    4. Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population. (PubMed id 19367581)1, 4 So H.C....Sham P.C. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
    7. Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9628581)1, 2 Nagase T....Ohara O. (DNA Res. 1998)
    8. Characterization of the EGFR interactome reveals associated protein complex networks and intracellular receptor dynamics. (PubMed id 23956138)1 Foerster S....Ritter C.A. (Proteomics 2013)
    9. Methods for quantification of in vivo changes in protein ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (amp 2012)
    10. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)

    (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)
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    Entrez Gene: 23218 HGNC: 31928 AceView: KIAA0540 Ensembl:ENSG00000160796 euGenes: HUgn23218
    ECgene: NBEAL2 H-InvDB: NBEAL2

    (According to HUGE)
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    HUGE: KIAA0540

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NBEAL2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NBEAL2 gene:
    Search GeneIP for patents involving NBEAL2

    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, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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