Human Gene EBLN2 (uc003dpj.3)
  Description: Homo sapiens endogenous Bornavirus-like nucleoprotein 2 (EBLN2), mRNA.
Transcript (Including UTRs)
   Position: hg19 chr3:73,110,810-73,112,471 Size: 1,662 Total Exon Count: 1 Strand: +
Coding Region
   Position: hg19 chr3:73,111,233-73,112,051 Size: 819 Coding Exon Count: 1 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr3:73,110,810-73,112,471)mRNA (may differ from genome)Protein (272 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHPRDLynxMGIneXtProt
OMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: EBLN2_HUMAN
DESCRIPTION: RecName: Full=Endogenous Bornavirus-like nucleoprotein 2; AltName: Full=Endogenous Borna-like N element-2; Short=EBLN-2;
FUNCTION: May act as a RNA-binding protein. The C-terminal region is highly homologous to the bornavirus nucleocapsid N protein that binds viral RNA and oligomerizes. The viral protein also possesses a nuclear import and a nuclear export signal. These 2 signals seem absent in EBLN-2 supporting an unrelated function in Human.
MISCELLANEOUS: Bornavirus is a non-retroviral RNA virus that does not generate DNA forms during viral replication. Therefore, integration of EBLN-2 must have occur through a mechanism relying on an endogenous reverse transcriptase activity.

-  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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): EBLN2
CDC HuGE Published Literature: EBLN2
Positive Disease Associations: Cholesterol , Glucose , Insulin , Insulin Resistance
Related Studies:
  1. Cholesterol
    , , . [PubMed 0]
  2. Glucose
    James B Meigs et al. BMC medical genetics 2007, Genome-wide association with diabetes-related traits in the Framingham Heart Study., BMC medical genetics. [PubMed 17903298]
    Framingham 100K SNP data is a resource for association tests of known and novel genes with diabetes and related traits posted at http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?id=phs000007 webcite. Framingham 100K data replicate the TCF7L2 association with diabetes.
  3. Insulin
    James B Meigs et al. BMC medical genetics 2007, Genome-wide association with diabetes-related traits in the Framingham Heart Study., BMC medical genetics. [PubMed 17903298]
    Framingham 100K SNP data is a resource for association tests of known and novel genes with diabetes and related traits posted at http://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?id=phs000007 webcite. Framingham 100K data replicate the TCF7L2 association with diabetes.
           more ... click here to view the complete list

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  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: 3.44 RPKM in Nerve - Tibial
Total median expression: 58.41 RPKM



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

+  Microarray Expression Data
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -113.43423-0.268 Picture PostScript Text
3' UTR -131.13420-0.312 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
IPR009441 - P40_nucleoprot_BD-vir
IPR015969 - P40_nucleoprot_sub1_BD-vir

Pfam Domains:
PF06407 - Borna disease virus P40 protein

SCOP Domains:
101399 - P40 nucleoprotein

ModBase Predicted Comparative 3D Structure on Q6P2I7
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
      
      
      
      
      

-  Descriptions from all associated GenBank mRNAs
  LF384161 - JP 2014500723-A/191664: Polycomb-Associated Non-Coding RNAs.
BC051316 - Homo sapiens hypothetical protein FLJ10213, mRNA (cDNA clone MGC:59764 IMAGE:6214587), complete cds.
BC064501 - Homo sapiens hypothetical protein FLJ10213, mRNA (cDNA clone MGC:71205 IMAGE:6215884), complete cds.
AY036895 - Homo sapiens GK006 (GK006) mRNA, complete cds.
KJ894128 - Synthetic construct Homo sapiens clone ccsbBroadEn_03522 EBLN2 gene, encodes complete protein.
AK001075 - Homo sapiens cDNA FLJ10213 fis, clone HEMBA1006474, weakly similar to 40 KD PROTEIN.
JD300677 - Sequence 281701 from Patent EP1572962.
JD484036 - Sequence 465060 from Patent EP1572962.
JD090836 - Sequence 71860 from Patent EP1572962.
JD085721 - Sequence 66745 from Patent EP1572962.
MA619738 - JP 2018138019-A/191664: Polycomb-Associated Non-Coding RNAs.

-  Other Names for This Gene
  Alternate Gene Symbols: EBLN2_HUMAN, GK006, NM_018029, NP_060499, Q6P2I7, Q8WWH3, Q9NW89
UCSC ID: uc003dpj.3
RefSeq Accession: NM_018029
Protein: Q6P2I7 (aka EBLN2_HUMAN)
CCDS: CCDS54608.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_018029.3
exon count: 1CDS single in 3' UTR: no RNA size: 1679
ORF size: 819CDS single in intron: no Alignment % ID: 99.94
txCdsPredict score: 1656.00frame shift in genome: no % Coverage: 98.99
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
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.