Human Gene NBEA (ENST00000379939.7_6) from GENCODE V47lift37
  Description: neurobeachin, transcript variant 4 (from RefSeq NM_001385012.1)
Gencode Transcript: ENST00000379939.7_6
Gencode Gene: ENSG00000172915.20_18
Transcript (Including UTRs)
   Position: hg19 chr13:35,516,407-36,246,873 Size: 730,467 Total Exon Count: 59 Strand: +
Coding Region
   Position: hg19 chr13:35,516,958-36,245,128 Size: 728,171 Coding Exon Count: 59 

Page IndexSequence and LinksPrimersMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
Other NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr13:35,516,407-36,246,873)mRNA (may differ from genome)Protein (2967 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedUniProtKBBioGrid CRISPR DB

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: NBEA
Diseases sorted by gene-association score: atrial septal defect 1 (11), multiple myeloma (7), chediak-higashi syndrome (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 13.20 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 140.75 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -304.80551-0.553 Picture PostScript Text
3' UTR -409.901745-0.235 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011989 - ARM-like
IPR016024 - ARM-type_fold
IPR000409 - BEACH_dom
IPR008985 - ConA-like_lec_gl_sf
IPR013320 - ConA-like_subgrp
IPR010508 - DUF1088
IPR023362 - PH-BEACH_dom
IPR015943 - WD40/YVTN_repeat-like_dom
IPR001680 - WD40_repeat
IPR017986 - WD40_repeat_dom

Pfam Domains:
PF02138 - Beige/BEACH domain
PF06469 - Domain of Unknown Function (DUF1088)
PF13385 - Concanavalin A-like lectin/glucanases superfamily
PF14844 - PH domain associated with Beige/BEACH
PF15787 - Domain of unknown function (DUF4704)

SCOP Domains:
48350 - GTPase activation domain, GAP
48371 - ARM repeat
48464 - ENTH/VHS domain
81837 - BEACH domain
49899 - Concanavalin A-like lectins/glucanases
50729 - PH domain-like
50952 - Soluble quinoprotein glucose dehydrogenase
50956 - Thermostable phytase (3-phytase)
50960 - TolB, C-terminal domain
63825 - YWTD domain
63829 - Calcium-dependent phosphotriesterase
69304 - Tricorn protease N-terminal domain
101898 - NHL repeat
50965 - Galactose oxidase, central domain
75011 - 3-carboxy-cis,cis-mucoante lactonizing enzyme
101908 - Putative isomerase YbhE
117289 - Nucleoporin domain
50969 - YVTN repeat-like/Quinoprotein amine dehydrogenase
50974 - Nitrous oxide reductase, N-terminal domain
50978 - WD40 repeat-like
50993 - Peptidase/esterase 'gauge' domain
69322 - Tricorn protease domain 2
50998 - Quinoprotein alcohol dehydrogenase-like
51004 - C-terminal (heme d1) domain of cytochrome cd1-nitrite reductase
82171 - DPP6 N-terminal domain-like

ModBase Predicted Comparative 3D Structure on Q5T321
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
      
      
      

-  Descriptions from all associated GenBank mRNAs
  AF467288 - Homo sapiens BCL8B protein (BCL8B) mRNA, complete cds.
BC172597 - Synthetic construct Homo sapiens clone IMAGE:100069291, MGC:199302 neurobeachin (NBEA) mRNA, encodes complete protein.
BX640760 - Homo sapiens mRNA; cDNA DKFZp686I03263 (from clone DKFZp686I03263).
AK127791 - Homo sapiens cDNA FLJ45892 fis, clone OCBBF3023175, highly similar to Protein neurobeachin.
AK091469 - Homo sapiens cDNA FLJ34150 fis, clone FCBBF3012667, highly similar to Protein neurobeachin.
AK122888 - Homo sapiens cDNA FLJ16538 fis, clone OCBBF2033295, highly similar to Protein neurobeachin.
AB046764 - Homo sapiens mRNA for KIAA1544 protein, partial cds.
AK297773 - Homo sapiens cDNA FLJ52700 complete cds, highly similar to Protein neurobeachin.
AK294737 - Homo sapiens cDNA FLJ53986 complete cds, highly similar to Protein neurobeachin.
AK315939 - Homo sapiens cDNA, FLJ78838 complete cds, highly similar to Protein neurobeachin.
AL137748 - Homo sapiens mRNA; cDNA DKFZp434G0511 (from clone DKFZp434G0511).
AF072371 - Homo sapiens lysosomal trafficking regulator 2 mRNA, partial cds.
JD462439 - Sequence 443463 from Patent EP1572962.
JD125254 - Sequence 106278 from Patent EP1572962.
JD474826 - Sequence 455850 from Patent EP1572962.
JD458775 - Sequence 439799 from Patent EP1572962.
AK095211 - Homo sapiens cDNA FLJ37892 fis, clone BRTHA2003794.
AK001059 - Homo sapiens cDNA FLJ10197 fis, clone HEMBA1004795, moderately similar to CDC4-LIKE PROTEIN.
JD286091 - Sequence 267115 from Patent EP1572962.
JD491476 - Sequence 472500 from Patent EP1572962.
JD064774 - Sequence 45798 from Patent EP1572962.
JD362727 - Sequence 343751 from Patent EP1572962.
JD553562 - Sequence 534586 from Patent EP1572962.
JD265655 - Sequence 246679 from Patent EP1572962.
JD315072 - Sequence 296096 from Patent EP1572962.
JD410530 - Sequence 391554 from Patent EP1572962.
JD343389 - Sequence 324413 from Patent EP1572962.
JD156518 - Sequence 137542 from Patent EP1572962.
JD485206 - Sequence 466230 from Patent EP1572962.
JD163523 - Sequence 144547 from Patent EP1572962.
JD314177 - Sequence 295201 from Patent EP1572962.
JD553485 - Sequence 534509 from Patent EP1572962.
JD526467 - Sequence 507491 from Patent EP1572962.
JD038254 - Sequence 19278 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000379939.1, ENST00000379939.2, ENST00000379939.3, ENST00000379939.4, ENST00000379939.5, ENST00000379939.6, NBEA , NM_001385012, Q5T321, Q5T321_HUMAN, uc318pgv.1, uc318pgv.2
UCSC ID: ENST00000379939.7_6
RefSeq Accession: NM_001385012.1
Protein: Q5T321

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.