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NBEAL2 neurobeachin like 2 [ Homo sapiens (human) ]

Gene ID: 23218, updated on 17-Jun-2019

Summary

Official Symbol
NBEAL2provided by HGNC
Official Full Name
neurobeachin like 2provided by HGNC
Primary source
HGNC:HGNC:31928
See related
Ensembl:ENSG00000160796 MIM:614169
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

Genomic context

See NBEAL2 in Genome Data Viewer
Location:
3p21.31
Exon count:
56
Annotation release Status Assembly Chr Location
109.20190607 current GRCh38.p13 (GCF_000001405.39) 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 parathyroid hormone 1 receptor Neighboring gene Sharpr-MPRA regulatory region 2536 Neighboring gene coiled-coil domain containing 12 Neighboring gene neurotrophin receptor associated death domain, pseudogene Neighboring gene SET domain containing 2, histone lysine methyltransferase Neighboring gene mitochondrial ribosomal protein L57 pseudogene 3

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

HIV-1 interactions

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

Pathways from BioSystems

  • 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 ...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0540

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
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
 

General protein information

Preferred Names
neurobeachin-like protein 2

NCBI Reference Sequences (RefSeq)

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_001365116.2NP_001352045.1  neurobeachin-like protein 2 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC094020
    Conserved Domains (6) summary
    smart01026
    Location:20312311
    Beach; Beige/BEACH domain
    cd01201
    Location:18842009
    PH_BEACH; Pleckstrin homology domain in BEACH domain containing proteins
    sd00039
    Location:24292466
    7WD40; WD40 repeat [structural motif]
    pfam15787
    Location:8431092
    DUF4704; Domain of unknown function (DUF4704)
    pfam16057
    Location:15531827
    DUF4800; Domain of unknown function (DUF4800)
    cl25539
    Location:24302688
    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 ...
  2. 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, ENST00000450053.7
    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 109

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 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

    Related
    ENSP00000499216.1, ENST00000651747.1
  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

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