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Aliases for NBEA Gene

Aliases for NBEA Gene

  • Neurobeachin 2 3
  • Lysosomal-Trafficking Regulator 2 3 4
  • LYST2 3 4
  • BCL8B 3 4
  • Protein BCL8B 4
  • EC 1.14.14.5 64
  • EC 6.1.1.11 64
  • KIAA1544 4

External Ids for NBEA Gene

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 myeloma. GO annotations related to this gene include protein kinase 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

Genomic Location for NBEA Gene

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

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

RefSeq DNA sequence for NBEA Gene

Regulatory Elements 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
  • Ubiquitination at Lys2345

Other Protein References for NBEA Gene

Domains for NBEA Gene

Gene Families for NBEA Gene

HGNC:
  • WDR :WD repeat domain containing
  • AKAP :A-kinase anchor proteins

UniProtKB/Swiss-Prot:

NBEA_HUMAN
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.:
    • Q8NFP9
  • Contains 1 BEACH domain.:
    • Q8NFP9
Family:
  • Belongs to the WD repeat neurobeachin family.:
    • Q8NFP9
Similarity:
  • Contains 5 WD repeats.:
    • Q8NFP9
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

Gene Ontology (GO) - Molecular Function for NBEA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005488 binding --
GO:0005515 protein binding --
GO:0005543 phospholipid binding IBA --
GO:0019901 protein kinase binding IEA --
genes like me logo Genes that share ontologies with NBEA: view
genes like me logo Genes that share phenotypes with NBEA: view

No data available for Animal Models , Transcription Factor Targeting 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 4
plasma membrane 4
cytoskeleton 1
endoplasmic reticulum 1
golgi apparatus 1
lysosome 1
nucleus 1
vacuole 1

Gene Ontology (GO) - Cellular Components for NBEA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005802 trans-Golgi network ISS --
GO:0005829 cytosol ISS --
GO:0005886 plasma membrane ISS --
GO:0012505 endomembrane system ISS --
GO:0019898 extrinsic component of membrane IBA --
genes like me logo Genes that share ontologies with NBEA: view

Pathways for NBEA Gene

SuperPathways for NBEA Gene

No Data Available

Gene Ontology (GO) - Biological Process for NBEA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008104 protein localization IEA --
GO:0016197 endosomal transport IBA --
genes like me logo Genes that share ontologies with NBEA: view

No data available for Pathways by source for NBEA Gene

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 (4.0).

Integrated Proteomics: protein expression 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 expressions with NBEA: view

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
chimpanzee
(Pan troglodytes)
Mammalia NBEA 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NBEA 36
  • 93.47 (n)
  • 98.97 (a)
NBEA 37
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NBEA 36
  • 94.91 (n)
  • 98.88 (a)
NBEA 37
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nbea 36
  • 89.83 (n)
  • 97.58 (a)
Nbea 16
Nbea 37
  • 98 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NBEA 37
  • 97 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NBEA 37
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1562629 36
  • 89.54 (n)
  • 97.81 (a)
chicken
(Gallus gallus)
Aves NBEA 36
  • 85.44 (n)
  • 96.63 (a)
NBEA 37
  • 96 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 96 (a)
OneToMany
-- 37
  • 90 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia nbea 36
  • 80.53 (n)
  • 93.12 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC565885 36
  • 73.25 (n)
  • 85.44 (a)
nbeaa 37
  • 85 (a)
OneToMany
nbeab 37
  • 84 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000017 36
  • 58.34 (n)
  • 62.18 (a)
fruit fly
(Drosophila melanogaster)
Insecta rg 36
  • 59.3 (n)
  • 61.46 (a)
rg 37
  • 41 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sel-2 36
  • 53.07 (n)
  • 47.63 (a)
sel-2 37
  • 42 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes BPH1 37
  • 19 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9799 37
  • 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

Selected 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 MAF
rs20411 -- 35,657,351(-) CAAAT(A/C)AAGAT intron-variant
rs374452 -- 35,672,299(-) GAGTG(A/G)GTGTA utr-variant-3-prime
rs378833 -- 35,658,174(-) TATGA(C/T)ACTGC 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

Relevant External Links for NBEA Gene

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

Disorders for NBEA Gene

(2) University of Copenhagen DISEASES for NBEA Gene

Relevant External Links for NBEA

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

No data available for UniProtKB/Swiss-Prot 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
  2. 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 4 23
  3. 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
  4. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 10997877) Nagase T. … Ohara O. (DNA Res. 2000) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4

Products for NBEA Gene

Sources for NBEA Gene

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