Free for academic non-profit institutions. Other users need a Commercial license

Aliases for NBEAL2 Gene

Aliases for NBEAL2 Gene

  • Neurobeachin Like 2 2 3 5
  • Neurobeachin-Like Protein 2 3
  • Neurobeachin-Like 2 2
  • KIAA0540 4
  • BDPLT4 3
  • GPS 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 and Arthrogryposis, Renal Dysfunction, And Cholestasis 1. Among its related pathways are Innate Immune System. GO annotations related to this gene include binding and phospholipid binding. An important paralog of this gene is NBEAL1.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NBEAL2 Gene

Genomics for NBEAL2 Gene

Regulatory Elements for NBEAL2 Gene

Enhancers for NBEAL2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03G046941 2 FANTOM5 Ensembl ENCODE dbSUPER 34.1 -33.2 -33205 9.8 HDGF FOXA2 PKNOX1 MLX CREB3L1 ARNT ARID4B SIN3A DMAP1 YBX1 NBEAL2 CCDC12 PTH1R BOLA2P2 MYL3 SCAP KLHL18 CSPG5 LRRC2 PRSS45
GH03G046952 1.9 FANTOM5 Ensembl ENCODE dbSUPER 30.6 -22.7 -22668 9.6 HDGF ATF1 PKNOX1 AGO1 WRNIP1 ARID4B ZNF48 ZNF2 YY1 GLIS2 NBEAL2 CCDC12 PTH1R KLHL18 PRSS45 CSPG5 BOLA2P2 SETD2 GC03P046964 ENSG00000273682
GH03G046924 2 FANTOM5 Ensembl ENCODE dbSUPER 28.2 -46.9 -46897 15.9 CREB3L1 MLX DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC TBX21 NBEAL2 PTH1R CCDC12 MYL3 XCR1 CSPG5 KLHL18 SETD2 ENSG00000273682 GC03P046964
GH03G047008 1.3 Ensembl ENCODE dbSUPER 29.1 +30.1 30051 2.3 HDGF PKNOX1 SIN3A RAD21 ETS1 GLIS2 ZNF207 EGR2 SP3 GATAD2B NBEAL2 CCDC12 KIF9 KLHL18 NRADDP
GH03G046984 1.9 FANTOM5 Ensembl ENCODE dbSUPER 15.6 +8.5 8465 7.6 HDGF PKNOX1 CREB3L1 ARNT SIN3A CBX5 ZNF143 ZNF207 FOS KLF13 CCDC12 NBEAL2 BOLA2P2 XCR1 SMARCC1 PTH1R KLHL18 NRADDP
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NBEAL2 on UCSC Golden Path with GeneCards custom track

Promoters for NBEAL2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000151953 117 1601 HDGF PKNOX1 CREB3L1 ARID4B SIN3A YY1 ZNF207 ZNF143 ZNF263 SP3

Genomic Location for NBEAL2 Gene

Chromosome:
3
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

Genes around NBEAL2 on UCSC Golden Path with GeneCards custom track

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

Post-translational modifications for NBEAL2 Gene

  • Ubiquitination at posLast=833833, Lys855, Lys939, Lys1624, posLast=17161716, posLast=18281828, posLast=18411841, Lys2067, posLast=21322132, and Lys2339
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for NBEAL2 Gene

Domains & Families for NBEAL2 Gene

Suggested Antigen Peptide Sequences for NBEAL2 Gene

Graphical View of Domain Structure for InterPro Entry

Q6ZNJ1

UniProtKB/Swiss-Prot:

NBEL2_HUMAN :
  • Belongs to the WD repeat neurobeachin family.
Family:
  • Belongs to the WD repeat neurobeachin family.
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.
genes like me logo Genes that share phenotypes with NBEAL2: view

Human Phenotype Ontology for NBEAL2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

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) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NBEAL2 gene
Compartment Confidence
plasma membrane 5
endoplasmic reticulum 5
cytosol 3
extracellular 2
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for NBEAL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 21765412
GO:0005886 plasma membrane TAS --
GO:0070821 tertiary granule membrane TAS --
GO:0101003 ficolin-1-rich granule membrane TAS --
genes like me logo Genes that share ontologies with NBEAL2: view

Pathways & Interactions for NBEAL2 Gene

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

Pathways by source for NBEAL2 Gene

3 Reactome pathways for NBEAL2 Gene

Gene Ontology (GO) - Biological Process for NBEAL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030220 platelet formation IMP 21765411
GO:0043312 neutrophil degranulation TAS --
genes like me logo Genes that share ontologies with NBEAL2: view

No data available for SIGNOR curated interactions for NBEAL2 Gene

Transcripts for NBEAL2 Gene

Unigene Clusters for NBEAL2 Gene

Neurobeachin-like 2:
Representative Sequences:

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x14.2).

Protein differential expression in normal tissues from HIPED 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 in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NBEAL2 Gene



Protein tissue co-expression partners for NBEAL2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NBEAL2 Gene:

NBEAL2

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.

Evidence on tissue expression from TISSUES for NBEAL2 Gene

  • Spleen(4.3)
  • Nervous system(4.2)
  • Blood(3.8)
  • Intestine(2.9)
  • Bone marrow(2.8)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NBEAL2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeleton
Organs:
Head and neck:
  • brain
  • face
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pituitary gland
  • skull
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • large intestine
  • liver
  • small intestine
  • spleen
  • stomach
Pelvis:
  • ovary
  • pelvis
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with NBEAL2: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia NBEAL2 34 35
  • 99.49 (n)
cow
(Bos Taurus)
Mammalia NBEAL2 34
  • 87.47 (n)
dog
(Canis familiaris)
Mammalia NBEAL2 34 35
  • 87.3 (n)
rat
(Rattus norvegicus)
Mammalia Nbeal2 34
  • 85.17 (n)
mouse
(Mus musculus)
Mammalia Nbeal2 34 16 35
  • 84.74 (n)
oppossum
(Monodelphis domestica)
Mammalia NBEAL2 35
  • 71 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 50 (a)
ManyToMany
-- 35
  • 44 (a)
ManyToMany
chicken
(Gallus gallus)
Aves NBEAL2 34 35
  • 68.58 (n)
lizard
(Anolis carolinensis)
Reptilia NBEAL2 35
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nbeal2 34
  • 63.03 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.11780 34
zebrafish
(Danio rerio)
Actinopterygii nbeal2 34 35
  • 61.11 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG43367 35
  • 32 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea T01H10.8 35
  • 14 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BPH1 35
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 47 (a)
OneToMany
Species where no ortholog for NBEAL2 was found in the sources mined by GeneCards:
  • 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

(5) 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
rs387907113 Pathogenic, Gray platelet syndrome (GPS) [MIM:139090] 46,993,986(+) AGTGC(C/T)GACCT nc-transcript-variant, reference, missense
rs387907114 Pathogenic, Gray platelet syndrome (GPS) [MIM:139090] 46,995,743(+) GTTTG(A/T)GGCCT nc-transcript-variant, reference, missense
rs387907115 Pathogenic, Gray platelet syndrome (GPS) [MIM:139090] 47,004,976(+) GTTCC(C/T)CTGGG nc-transcript-variant, reference, missense
rs749896920 Gray platelet syndrome (GPS) [MIM:139090] 47,005,950(+) GGAGT(C/T)GGAGT nc-transcript-variant, reference, missense
rs750160418 Gray platelet syndrome (GPS) [MIM:139090] 47,003,012(+) GCATG(C/T)GTCTG nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
esv3303281 CNV mobile element insertion 20981092
esv3387041 CNV insertion 20981092
esv3596073 CNV loss 21293372
nsv428417 CNV loss 18775914
nsv590209 CNV loss 21841781
nsv954479 CNV deletion 24416366

Variation tolerance for NBEAL2 Gene

Residual Variation Intolerance Score: 8.87% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.49; 97.18% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NBEAL2 Gene

Human Gene Mutation Database (HGMD)
NBEAL2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NBEAL2

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

Disorders for NBEAL2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for NBEAL2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
gray platelet syndrome
  • bdplt4
arthrogryposis, renal dysfunction, and cholestasis 1
  • arc syndrome
genitopatellar syndrome
  • absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation
myh-9 related disease
  • sebastian syndrome
stormorken syndrome
  • thrombocytopathy, asplenia and miosis
- elite association - COSMIC cancer census association via MalaCards

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
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NBEAL2
genes like me logo Genes that share disorders with NBEAL2: view

No data available for 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) 2 3 4 64
  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) 2 3 4 64
  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 64
  4. Identification of neuroglycan C and interacting partners as potential susceptibility genes for schizophrenia in a Southern Chinese population. (PMID: 19367581) So H.C. … Sham P.C. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2010) 3 46 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for NBEAL2 Gene

Sources for NBEAL2 Gene

Content
Loading form....