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Aliases for NBEA Gene

Aliases for NBEA Gene

  • Neurobeachin 2 3 5
  • Lysosomal-Trafficking Regulator 2 3 4
  • BCL8B 3 4
  • LYST2 3 4
  • Protein BCL8B 4
  • EC 1.14.14.5 63
  • EC 6.1.1.11 63
  • KIAA1544 4

External Ids for NBEA Gene

Previous GeneCards Identifiers for NBEA Gene

  • GC13P033850
  • GC13P029502
  • GC13P034453
  • GC13P033314
  • GC13P034414
  • GC13P035516
  • GC13P016329

Summaries for NBEA Gene

Entrez Gene Summary for NBEA Gene

  • This gene encodes a member of a large, diverse group of A-kinase anchor proteins that target the activity of protein kinase A to specific subcellular sites by binding to its type II regulatory subunits. Brain-specific expression and coat protein-like membrane recruitment of a highly similar protein in mouse suggest an involvement in neuronal post-Golgi membrane traffic. Mutations in this gene may be associated with a form of autism. This gene and its expression are frequently disrupted in patients with multiple myeloma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants may exist, but their full-length nature has not been determined.[provided by RefSeq, Feb 2011]

GeneCards Summary for NBEA Gene

NBEA (Neurobeachin) is a Protein Coding gene. Diseases associated with NBEA include multiple myeloma and chediak-higashi syndrome. GO annotations related to this gene include binding and phospholipid binding. An important paralog of this gene is WDFY3.

UniProtKB/Swiss-Prot for NBEA Gene

  • Binds to type II regulatory subunits of protein kinase A and anchors/targets them to the membrane. May anchor the kinase to cytoskeletal and/or organelle-associated proteins (By similarity).

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

Genomics for NBEA Gene

Regulatory Elements for NBEA Gene

Enhancers for NBEA Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around NBEA on UCSC Golden Path with GeneCards custom track

Promoters for NBEA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NBEA on UCSC Golden Path with GeneCards custom track

Genomic Location for NBEA Gene

Chromosome:
13
Start:
34,942,287 bp from pter
End:
35,673,022 bp from pter
Size:
730,736 bases
Orientation:
Plus strand

Genomic View for NBEA Gene

Genes around NBEA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NBEA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NBEA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NBEA Gene

Proteins for NBEA Gene

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

    Protein Symbol:
    Q8NFP9-NBEA_HUMAN
    Recommended name:
    Neurobeachin
    Protein Accession:
    Q8NFP9
    Secondary Accessions:
    • B7Z2H9
    • Q5T320
    • Q9HCM8
    • Q9NSU1
    • Q9NW98
    • Q9Y6J1

    Protein attributes for NBEA Gene

    Size:
    2946 amino acids
    Molecular mass:
    327822 Da
    Quaternary structure:
    • Interacts with RII subunit of PKA.
    SequenceCaution:
    • Sequence=AAD41633.1; Type=Frameshift; Positions=2900; Evidence={ECO:0000305}; Sequence=BAA91485.1; Type=Erroneous termination; Positions=762; Note=Translated as Trp.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NBEA Gene

    Alternative splice isoforms for NBEA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NBEA Gene

Proteomics data for NBEA Gene at MOPED

Selected DME Specific Peptides for NBEA Gene

Post-translational modifications for NBEA Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for NBEA Gene

Domains & Families for NBEA Gene

Graphical View of Domain Structure for InterPro Entry

Q8NFP9

UniProtKB/Swiss-Prot:

NBEA_HUMAN :
  • RII-alpha binding site, predicted to form an amphipathic helix, could participate in protein-protein interactions with a complementary surface on the R-subunit dimer.
  • Belongs to the WD repeat neurobeachin family.
  • Contains 5 WD repeats.
Domain:
  • RII-alpha binding site, predicted to form an amphipathic helix, could participate in protein-protein interactions with a complementary surface on the R-subunit dimer.
  • Contains 1 BEACH domain.
  • Contains 1 BEACH-type PH domain.
Family:
  • Belongs to the WD repeat neurobeachin family.
Similarity:
  • Contains 5 WD repeats.
genes like me logo Genes that share domains with NBEA: view

Function for NBEA Gene

Molecular function for NBEA Gene

GENATLAS Biochemistry:
neurobeachin,cytosolic protein,specifically expressed in brain,peripherally associated with several membrane compartments including trans-Golgi network and endosome-like structures,may be involved in membrane trafficking events
UniProtKB/Swiss-Prot Function:
Binds to type II regulatory subunits of protein kinase A and anchors/targets them to the membrane. May anchor the kinase to cytoskeletal and/or organelle-associated proteins (By similarity).

Enzyme Numbers (IUBMB) for NBEA Gene

genes like me logo Genes that share phenotypes with NBEA: view

Animal Model Products

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NBEA Gene

Localization for NBEA Gene

Subcellular locations from UniProtKB/Swiss-Prot for NBEA Gene

Cytoplasm. Membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NBEA Gene COMPARTMENTS Subcellular localization image for NBEA gene
Compartment Confidence
cytosol 5
golgi apparatus 5
plasma membrane 5
endoplasmic reticulum 1
endosome 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for NBEA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol ISS --
genes like me logo Genes that share ontologies with NBEA: view

Pathways & Interactions for NBEA Gene

SuperPathways for NBEA Gene

No Data Available

Gene Ontology (GO) - Biological Process for NBEA Gene

None

No data available for Pathways by source and SIGNOR curated interactions for NBEA Gene

Drugs & Compounds for NBEA Gene

No Compound Related Data Available

Transcripts for NBEA Gene

Unigene Clusters for NBEA Gene

Neurobeachin:
Representative Sequences:

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

No ASD Table

Relevant External Links for NBEA Gene

GeneLoc Exon Structure for
NBEA
ECgene alternative splicing isoforms for
NBEA

Expression for NBEA Gene

mRNA expression in normal human tissues for NBEA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Brain - Cerebellar Hemisphere (x4.0).

Protein differential expression in normal tissues from HIPED for NBEA Gene

This gene is overexpressed in Fetal Brain (24.9), Urine (16.9), and Heart (8.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for NBEA Gene



SOURCE GeneReport for Unigene cluster for NBEA Gene Hs.491172

mRNA Expression by UniProt/SwissProt for NBEA Gene

Q8NFP9-NBEA_HUMAN
Tissue specificity: Predominant in many brain structures. Also expressed at medium levels in spleen, thymus, prostate, testis and ovary. Low level expression is seen in heart, kidney, pancreas, skeletal muscle and intestine.
genes like me logo Genes that share expression patterns with NBEA: view

Protein tissue co-expression partners for NBEA Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for NBEA Gene

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

Orthologs for NBEA Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NBEA 35
  • 93.47 (n)
  • 98.97 (a)
NBEA 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NBEA 35
  • 94.91 (n)
  • 98.88 (a)
NBEA 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nbea 35
  • 89.83 (n)
  • 97.58 (a)
Nbea 16
Nbea 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1562629 35
  • 89.54 (n)
  • 97.81 (a)
oppossum
(Monodelphis domestica)
Mammalia NBEA 36
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NBEA 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NBEA 36
  • 100 (a)
OneToOne
chicken
(Gallus gallus)
Aves NBEA 35
  • 85.44 (n)
  • 96.63 (a)
NBEA 36
  • 96 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 96 (a)
OneToMany
-- 36
  • 90 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia nbea 35
  • 80.53 (n)
  • 93.12 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC565885 35
  • 73.25 (n)
  • 85.44 (a)
nbeaa 36
  • 85 (a)
OneToMany
nbeab 36
  • 84 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000017 35
  • 58.34 (n)
  • 62.18 (a)
fruit fly
(Drosophila melanogaster)
Insecta rg 35
  • 59.3 (n)
  • 61.46 (a)
rg 36
  • 41 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sel-2 35
  • 53.07 (n)
  • 47.63 (a)
sel-2 36
  • 42 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BPH1 36
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9799 36
  • 43 (a)
OneToMany
Species with no ortholog for NBEA:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 NBEA Gene

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

Paralogs for NBEA Gene

Paralogs for NBEA Gene

(5) SIMAP similar genes for NBEA Gene using alignment to 3 proteins:

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

Variants for NBEA Gene

Sequence variations from dbSNP and Humsavar for NBEA Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs5011295 - 35,109,314(+) CTAGA(C/G)CTGTC reference, missense
rs11538677 - 35,628,132(+) ACCTT(A/G)TATTT reference, missense
rs20411 -- 35,657,351(-) CAAAT(A/C)AAGAT intron-variant
rs399518 -- 35,610,130(-) GACAG(C/T)GTGAG intron-variant
rs403904 -- 35,672,096(-) TGAAA(C/T)GCCTT utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
nsv1001 CNV Insertion 18451855
nsv510600 CNV Loss 20534489
esv2668233 CNV Deletion 23128226
esv23864 CNV Loss 19812545
nsv64727 CNV Loss 16902084
esv2747257 CNV Deletion 23290073
dgv1573n71 CNV Loss 21882294
esv22696 CNV Gain+Loss 19812545
esv22371 CNV Gain 19812545
dgv321n67 CNV Gain 20364138
nsv899989 CNV Loss 21882294
esv33135 CNV Loss 17666407
esv2747258 CNV Deletion 23290073
esv2026049 CNV Deletion 18987734
esv2661190 CNV Deletion 23128226
nsv471126 CNV Loss 18288195
esv33929 CNV Loss 17666407
nsv1002 CNV Loss 18451855
esv270120 CNV Insertion 20981092
esv269030 CNV Insertion 20981092
nsv899990 CNV Gain 21882294
esv2558098 CNV Deletion 19546169
nsv826611 CNV Loss 20364138
nsv832579 CNV Loss 17160897
nsv510329 CNV Loss 20534489
nsv899991 CNV Loss 21882294
nsv832580 CNV Loss 17160897
esv2747259 CNV Deletion 23290073

Variation tolerance for NBEA Gene

Residual Variation Intolerance Score: 0.747% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.97; 74.73% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NBEA Gene

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

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

Disorders for NBEA Gene

MalaCards: The human disease database

(2) MalaCards diseases for NBEA Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
multiple myeloma
  • plasma cell neoplasm
chediak-higashi syndrome
  • chediak - steinbrinck anomaly
- elite association - COSMIC cancer census association via MalaCards
Search NBEA in MalaCards View complete list of genes associated with diseases

Relevant External Links for NBEA

Genetic Association Database (GAD)
NBEA
Human Genome Epidemiology (HuGE) Navigator
NBEA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NBEA
genes like me logo Genes that share disorders with NBEA: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NBEA Gene

Publications for NBEA Gene

  1. The neurobeachin gene (Nbea) identifies a new region of homology between mouse central chromosome 3 and human chromosome 13q13. (PMID: 10501977) Gilbert D.J. … Kilimann M.W. (Mamm. Genome 1999) 2 3 23 67
  2. Neurobeachin (NBEA) is a target of recurrent interstitial deletions at 13q13 in patients with MGUS and multiple myeloma. (PMID: 19135901) O'Neal J. … Tomasson M.H. (Exp. Hematol. 2009) 3 23
  3. Crystal structure of the BEACH domain reveals an unusual fold and extensive association with a novel PH domain. (PMID: 12234919) Jogl G. … Tong L. (EMBO J. 2002) 3 23
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. A Dynamic Protein Interaction Landscape of the Human Centrosome-Cilium Interface. (PMID: 26638075) Gupta G.D. … Pelletier L. (Cell 2015) 3

Products for NBEA Gene

Sources for NBEA Gene

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