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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NBEAL2 Gene

protein-coding   GIFtS: 50
GCID: GC03P046996

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)
About This Section

Aliases
Neurobeachin-Like 21 2
BDPLT42
GPS2
Neurobeachin-Like Protein 22
KIAA05403

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

Export aliases for NBEAL2 gene to outside databases


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_022517.18  NC_018914.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for NBEAL2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC03P046996:  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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NBEL2_HUMAN, Q6ZNJ1 (See protein sequence)
Recommended Name: Neurobeachin-like protein 2  
Size: 2754 amino acids; 302517 Da
Subcellular location: Endoplasmic reticulum
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q6ZNJ1

  • NBEAL2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NBEAL2 Protein Expression
    REFSEQ proteins: NP_055990.1  
    ENSEMBL proteins: 
     ENSP00000415034   ENSP00000410405   ENSP00000414560   ENSP00000409601   ENSP00000415063  
     ENSP00000292309   ENSP00000373246  

    Human Recombinant Protein Products for NBEAL2: 
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    Cloud-Clone Corp. Proteins for NBEAL2 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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

    NBEAL2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    WDR: WD repeat domain containing

    5/8 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

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


    Phenotypes:
         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Nbeal2):
     hematopoietic system  immune system  skeleton 

    NBEAL2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for NBEAL2 
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NBEAL2

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for NBEAL2 (ENSP000004150344) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NBEAL2 (NBEL2)

    Search CenterWatch for drugs/clinical trials and news about 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    8/14 QIAGEN miScript miRNA 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
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    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 

    24/295 AceView cDNA sequences (see all 295):

    BM718900 AI673191 AB011112 AI989644 AI653411 CK820847 AL134637 CB070301 
    AI339197 AI990376 BC029944 AW050892 BQ707052 AI336803 AI631696 AW190430 
    AI627934 AI671531 BM451095 AI741624 BM713902 AI638281 BQ049820 AI380122 

    GeneLoc Exon Structure

    5/18 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See NBEAL2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NBEAL2

    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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    (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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for NBEAL2 gene from 6/11 species (see all 11)    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 67.82(n)
    64.87(a)
      425984  XM_423664.3  XP_423664.3 
    lizard
    (Anolis carolinensis)
    Reptilia NBEAL26
    NBEAL26
    neurobeachin-like 2
    73(a)
    57(a)
    possible ortholog
    1 ↔ 1
    GL344345.1(35069-59389)
    GL344160.1(1068-15519)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.117802 Xenopus laevis transcribed sequence with weak similarity more 75.59(n)    AW158621.1 
    zebrafish
    (Danio rerio)
    Actinopterygii nbeal21 neurobeachin-like 2 60.2(n)
    57.17(a)
      100330830  XM_003200162.1  XP_003200210.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG433676
    --
    31(a)
    1 → many
    3L(4193993-4224003)


    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)
    About This Section
    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/811 SNPs in NBEAL2 are shown (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--------
    VAR_0669754
    ----see VAR_0669752 I V mis40--------
    VAR_0669794
    ----see VAR_0669792 I F mis40--------

    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
    SABiosciences Cancer Mutation PCR Assays
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    (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.)
    About This Section
    OMIM gene information: 614169    OMIM disorders: --

    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

  • 3 diseases for NBEAL2:    About MalaCards
    gray platelet syndrome    thrombocytopenia    schizophrenia


    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)
    About This Section

    PubMed articles for NBEAL2 gene, integrated from 9 sources (see all 19):
    (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. (2011)
    2. Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. (PubMed id 21765413)1, 2 Kahr W.H.... Di Paola J. (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. (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. (2009)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (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. (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. (1998)
    8. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    9. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    10. Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 23218 HGNC: 31928 AceView: KIAA0540 Ensembl:ENSG00000160796 euGenes: HUgn23218
    ECgene: NBEAL2 H-InvDB: NBEAL2

    (According to HUGE)
    About This Section
    HUGE: KIAA0540

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



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