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    NBEAL2 neurobeachin like 2 [ Homo sapiens (human) ]

    Gene ID: 23218, updated on 4-Feb-2018
    Official Symbol
    NBEAL2provided by HGNC
    Official Full Name
    neurobeachin like 2provided by HGNC
    Primary source
    HGNC:HGNC:31928
    See related
    Ensembl:ENSG00000160796 MIM:614169; Vega:OTTHUMG00000156497
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    GPS; BDPLT4
    Summary
    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]
    Expression
    Broad expression in bone marrow (RPKM 26.4), esophagus (RPKM 17.9) and 23 other tissues See more
    Orthologs
    Location:
    3p21.31
    Exon count:
    56
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 3 NC_000003.12 (46979683..47009704)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (47021173..47051194)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene myosin light chain 3 Neighboring gene parathyroid hormone 1 receptor Neighboring gene coiled-coil domain containing 12 Neighboring gene neurotrophin receptor associated death domain, pseudogene Neighboring gene mitochondrial ribosomal protein L57 pseudogene 3 Neighboring gene SET domain containing 2

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Replication interactions

    Interaction Pubs
    Knockdown of neurobeachin-like 2 (NBEAL2) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Go to the HIV-1, Human Interaction Database

    • Immune System, organism-specific biosystem (from REACTOME)
      Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
    • Innate Immune System, organism-specific biosystem (from REACTOME)
      Innate Immune System, organism-specific biosystemInnate immunity encompases the nonspecific part of immunity tha are part of an individual's natural biologic makeup
    • Neutrophil degranulation, organism-specific biosystem (from REACTOME)
      Neutrophil degranulation, organism-specific biosystemNeutrophils are the most abundant leukocytes (white blood cells), indispensable in defending the body against invading microorganisms. In response to infection, neutrophils leave the circulation and ...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • KIAA0540

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    neutrophil degranulation TAS
    Traceable Author Statement
    more info
     
    platelet formation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    Component Evidence Code Pubs
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    PubMed 
    ficolin-1-rich granule membrane TAS
    Traceable Author Statement
    more info
     
    plasma membrane TAS
    Traceable Author Statement
    more info
     
    tertiary granule membrane TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    neurobeachin-like protein 2

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_031914.1 RefSeqGene

      Range
      5001..35022
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_568

    mRNA and Protein(s)

    1. NM_015175.2NP_055990.1  neurobeachin-like protein 2

      See identical proteins and their annotated locations for NP_055990.1

      Status: REVIEWED

      Source sequence(s)
      AB011112, AK131104, BC029944, BQ017286, CR988681
      Consensus CDS
      CCDS46817.1
      UniProtKB/Swiss-Prot
      Q6ZNJ1
      Related
      ENSP00000415034.2, OTTHUMP00000209976, ENST00000450053.7, OTTHUMT00000344363
      Conserved Domains (7) summary
      smart01026
      Location:20652345
      Beach; Beige/BEACH domain
      COG2319
      Location:23802713
      WD40; WD40 repeat [General function prediction only]
      cd01201
      Location:19182043
      PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins
      pfam15787
      Location:8771126
      DUF4704; Domain of unknown function (DUF4704)
      pfam16057
      Location:15871861
      DUF4800; Domain of unknown function (DUF4800)
      sd00039
      Location:24632500
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:24642722
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p7 Primary Assembly

      Range
      46979683..47009704
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017006010.1XP_016861499.1  neurobeachin-like protein 2 isoform X1

    2. XM_017006013.1XP_016861502.1  neurobeachin-like protein 2 isoform X4

    3. XM_017006012.1XP_016861501.1  neurobeachin-like protein 2 isoform X3

    4. XM_017006015.1XP_016861504.1  neurobeachin-like protein 2 isoform X7

    5. XM_011533533.2XP_011531835.1  neurobeachin-like protein 2 isoform X6

      UniProtKB/Swiss-Prot
      Q6ZNJ1
      Conserved Domains (7) summary
      smart01026
      Location:20652345
      Beach; Beige/BEACH domain
      COG2319
      Location:23912683
      WD40; WD40 repeat [General function prediction only]
      cd01201
      Location:19182043
      PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins
      pfam15787
      Location:8771126
      DUF4704; Domain of unknown function (DUF4704)
      pfam16057
      Location:15871861
      DUF4800; Domain of unknown function (DUF4800)
      sd00039
      Location:24332470
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:24342692
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    6. XM_006713072.3XP_006713135.1  neurobeachin-like protein 2 isoform X10

      Conserved Domains (7) summary
      smart01026
      Location:20382318
      Beach; Beige/BEACH domain
      COG2319
      Location:23532686
      WD40; WD40 repeat [General function prediction only]
      cd01201
      Location:18912016
      PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins
      pfam15787
      Location:8501099
      DUF4704; Domain of unknown function (DUF4704)
      pfam16057
      Location:15601834
      DUF4800; Domain of unknown function (DUF4800)
      sd00039
      Location:24362473
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:24372695
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    7. XM_017006011.1XP_016861500.1  neurobeachin-like protein 2 isoform X2

    8. XM_017006014.1XP_016861503.1  neurobeachin-like protein 2 isoform X5

    9. XM_017006016.1XP_016861505.1  neurobeachin-like protein 2 isoform X8

    10. XM_017006017.1XP_016861506.1  neurobeachin-like protein 2 isoform X9

    RNA

    1. XR_940397.2 RNA Sequence

    2. XR_940398.1 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018914.2 Alternate CHM1_1.1

      Range
      46971583..47001579
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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