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Aliases for NBEAL2 Gene

Aliases for NBEAL2 Gene

  • Neurobeachin-Like 2 2 3
  • KIAA0540 4 6
  • BDPLT4 3 6
  • GPS 3 6
  • Neurobeachin-Like Protein 2 3

External Ids for NBEAL2 Gene

Previous GeneCards Identifiers for NBEAL2 Gene

  • GC03P046996

Summaries for NBEAL2 Gene

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. An important paralog of this gene is WDFY3.

UniProtKB/Swiss-Prot for NBEAL2 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NBEAL2 Gene

Genomics for NBEAL2 Gene

Regulatory Elements for NBEAL2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for NBEAL2 Gene

Start:
46,979,683 bp from pter
End:
47,009,704 bp from pter
Size:
30,022 bases
Orientation:
Plus strand

Genomic View for NBEAL2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NBEAL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NBEAL2 Gene

Proteins for NBEAL2 Gene

  • Protein details for NBEAL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZNJ1-NBEL2_HUMAN
    Recommended name:
    Neurobeachin-like protein 2
    Protein Accession:
    Q6ZNJ1
    Secondary Accessions:
    • O60288
    • Q6P994
    • Q6UX91
    • Q8NAC9

    Protein attributes for NBEAL2 Gene

    Size:
    2754 amino acids
    Molecular mass:
    302517 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAC03994.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing.; Evidence={ECO:0000305}; Sequence=BAC85154.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for NBEAL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NBEAL2 Gene

Proteomics data for NBEAL2 Gene at MOPED

Post-translational modifications for NBEAL2 Gene

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

Other Protein References for NBEAL2 Gene

No data available for DME Specific Peptides for NBEAL2 Gene

Domains for NBEAL2 Gene

Gene Families for NBEAL2 Gene

HGNC:
  • WDR :WD repeat domain containing

Suggested Antigen Peptide Sequences for NBEAL2 Gene

Graphical View of Domain Structure for InterPro Entry

Q6ZNJ1

UniProtKB/Swiss-Prot:

NBEL2_HUMAN :
  • Q6ZNJ1
Domain:
  • Contains 1 BEACH domain.
Family:
  • Belongs to the WD repeat neurobeachin family.
Similarity:
  • Contains 5 WD repeats.
genes like me logo Genes that share domains with NBEAL2: view

Function for NBEAL2 Gene

Molecular function for NBEAL2 Gene

UniProtKB/Swiss-Prot 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) - Molecular Function for NBEAL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005488 binding --
GO:0005515 protein binding --
GO:0005543 phospholipid binding IBA --
genes like me logo Genes that share ontologies with NBEAL2: view
genes like me logo Genes that share phenotypes with NBEAL2: view

Animal Models for NBEAL2 Gene

MGI Knock Outs for NBEAL2:

Animal Model Products

CRISPR Products

miRNA for NBEAL2 Gene

miRTarBase miRNAs that target NBEAL2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for NBEAL2 Gene

Localization for NBEAL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NBEAL2 Gene

Endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NBEAL2 Gene COMPARTMENTS Subcellular localization image for NBEAL2 gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 3
plasma membrane 3
endosome 1

Gene Ontology (GO) - Cellular Components for NBEAL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 21765412
GO:0016020 membrane IDA 19946888
GO:0019898 extrinsic component of membrane IBA --
genes like me logo Genes that share ontologies with NBEAL2: view

Pathways for NBEAL2 Gene

SuperPathways for NBEAL2 Gene

No Data Available

Interacting Proteins for NBEAL2 Gene

Gene Ontology (GO) - Biological Process for NBEAL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007596 blood coagulation IEA --
GO:0016197 endosomal transport IBA --
GO:0030220 platelet formation IMP 21765411
GO:0035855 megakaryocyte development IEA --
GO:0042060 wound healing --
genes like me logo Genes that share ontologies with NBEAL2: view

No data available for Pathways by source for NBEAL2 Gene

Transcripts for NBEAL2 Gene

Unigene Clusters for NBEAL2 Gene

Neurobeachin-like 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for NBEAL2

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for NBEAL2 Gene

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:
SP6:
SP7:
SP8:
SP9: - - - - - - - - - - - - - - - - - - - - - - -
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:

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:
SP6:
SP7: -
SP8:
SP9: - - - - - - - - - - - - - -
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:

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:
SP6: - - - -
SP7: - - -
SP8: -
SP9:
SP10: - - -
SP11: -
SP12:
SP13:
SP14:
SP15:
SP16: -
SP17:
SP18:

ExUns: 55 ^ 56 ^ 57a ·
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:

Relevant External Links for NBEAL2 Gene

GeneLoc Exon Structure for
NBEAL2
ECgene alternative splicing isoforms for
NBEAL2

Expression for NBEAL2 Gene

mRNA expression in normal human tissues for NBEAL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NBEAL2 Gene

This gene is overexpressed in Whole Blood (14.2).

Protein differential expression in normal tissues for NBEAL2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (28.8), Platelet (12.9), Monocytes (9.9), and Cervix (8.8).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for NBEAL2 Gene

SOURCE GeneReport for Unigene cluster for NBEAL2 Gene Hs.437043

mRNA Expression by UniProt/SwissProt for NBEAL2 Gene

Q6ZNJ1-NBEL2_HUMAN
Tissue specificity: Expressed in megakaryocytes.
genes like me logo Genes that share expressions with NBEAL2: view

Expression partners for NBEAL2 Gene

In Situ Assay Products

Orthologs for NBEAL2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for NBEAL2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NBEAL2 35
  • 87.47 (n)
  • 91.05 (a)
dog
(Canis familiaris)
Mammalia NBEAL2 35
  • 87.3 (n)
  • 90.08 (a)
NBEAL2 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nbeal2 35
  • 84.74 (n)
  • 88.4 (a)
Nbeal2 16
Nbeal2 36
  • 88 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NBEAL2 35
  • 99.49 (n)
  • 99.35 (a)
NBEAL2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nbeal2 35
  • 85.17 (n)
  • 89.5 (a)
oppossum
(Monodelphis domestica)
Mammalia NBEAL2 36
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 50 (a)
ManyToMany
-- 36
  • 44 (a)
ManyToMany
chicken
(Gallus gallus)
Aves NBEAL2 35
  • 68.58 (n)
  • 65.7 (a)
NBEAL2 36
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NBEAL2 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nbeal2 35
  • 63.03 (n)
  • 62.13 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.11780 35
zebrafish
(Danio rerio)
Actinopterygii nbeal2 35
  • 61.11 (n)
  • 58.13 (a)
nbeal2 36
  • 55 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG43367 36
  • 32 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T01H10.8 36
  • 14 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BPH1 36
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 47 (a)
OneToMany
Species with no ortholog for NBEAL2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NBEAL2 Gene

ENSEMBL:
Gene Tree for NBEAL2 (if available)
TreeFam:
Gene Tree for NBEAL2 (if available)

Paralogs for NBEAL2 Gene

Paralogs for NBEAL2 Gene

Selected SIMAP similar genes for NBEAL2 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with NBEAL2: view

Variants for NBEAL2 Gene

Sequence variations from dbSNP and Humsavar for NBEAL2 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type MAF
rs12893 - 47,009,294(+) AGACG(A/G)AATAC missense, reference
rs749511 -- 46,994,245(+) GACAC(G/T)TGTAG intron-variant
rs749512 -- 46,994,410(+) CCCTC(C/T)GGCCC intron-variant
rs936178 -- 46,986,607(-) CAAGC(C/T)AGTCA intron-variant, upstream-variant-2KB
rs936185 -- 46,994,135(+) AAGCA(A/G)GCGAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NBEAL2 Gene

Variant ID Type Subtype PubMed ID
nsv428417 CNV Loss 18775914
nsv876755 CNV Loss 21882294
nsv876756 CNV Gain 21882294
nsv876757 CNV Loss 21882294
esv267561 CNV Insertion 20981092

Relevant External Links for NBEAL2 Gene

HapMap Linkage Disequilibrium report
NBEAL2
Human Gene Mutation Database (HGMD)
NBEAL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NBEAL2 Gene

Disorders for NBEAL2 Gene

MalaCards: The human disease database

MalaCards: The human disease database.

Search for NBEAL2 Gene in MalaCards »

(1) Diseases for NBEAL2 Gene including...

(1) OMIM Diseases for NBEAL2 Gene (614169)

UniProtKB/Swiss-Prot

NBEL2_HUMAN
  • 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. {ECO:0000269 PubMed:21765411, ECO:0000269 PubMed:21765412, ECO:0000269 PubMed:21765413}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NBEAL2

Genetic Association Database (GAD)
NBEAL2
Human Genome Epidemiology (HuGE) Navigator
NBEAL2
genes like me logo Genes that share disorders with NBEAL2: view

No data available for University of Copenhagen DISEASES , Novoseek inferred disease relationships and Genatlas for NBEAL2 Gene

Publications for NBEAL2 Gene

  1. Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. (PMID: 21765411) Albers C.A. … Ouwehand W.H. (Nat. Genet. 2011) 3 4
  2. NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet alpha-granules. (PMID: 21765412) Gunay-Aygun M. … Gahl W.A. (Nat. Genet. 2011) 3 4
  3. Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. (PMID: 21765413) Kahr W.H. … Di Paola J. (Nat. Genet. 2011) 3 4
  4. 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. (PMID: 9628581) Nagase T. … Ohara O. (DNA Res. 1998) 3 4
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark H.F. … Gray A.M. (Genome Res. 2003) 3 4

Products for NBEAL2 Gene

Sources for NBEAL2 Gene

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