Human Gene BTBD11 (uc009zut.1)
  Description: Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.
Transcript (Including UTRs)
   Position: hg19 chr12:107,712,197-108,029,167 Size: 316,971 Total Exon Count: 10 Strand: +
Coding Region
   Position: hg19 chr12:107,712,718-108,029,166 Size: 316,449 Coding Exon Count: 10 

Page IndexSequence and LinksPrimersGenetic AssociationsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesmRNA Descriptions
Other NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:107,712,197-108,029,167)mRNA (may differ from genome)Protein (793 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsGeneNetwork
H-INVHGNCHuman Cortex Gene ExpressionLynxMGIPubMed
TreefamUniProtKBBioGrid 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


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): BTBD11
CDC HuGE Published Literature: BTBD11
Positive Disease Associations: Amyotrophic Lateral Sclerosis , Myocardial Infarction
Related Studies:
  1. Amyotrophic Lateral Sclerosis
    Jennifer C Schymick et al. Lancet neurology 2007, Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data., Lancet neurology. [PubMed 17362836]
    We generated publicly available genotype data for sporadic ALS patients and controls. No single locus was definitively associated with increased risk of developing disease, although potentially associated candidate SNPs were identified.
  2. Myocardial Infarction
    , , . [PubMed 0]

-  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: 10.92 RPKM in Esophagus - Mucosa
Total median expression: 64.11 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 -269.30521-0.517 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
  Pfam Domains:
PF00023 - Ankyrin repeat
PF13606 - Ankyrin repeat
PF13637 - Ankyrin repeats (many copies)

SCOP Domains:
47113 - Histone-fold
48403 - Ankyrin repeat

ModBase Predicted Comparative 3D Structure on A6QL63-2
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
  BC146824 - Homo sapiens BTB (POZ) domain containing 11, mRNA (cDNA clone IMAGE:8860452), partial cds.
AK122818 - Homo sapiens cDNA FLJ16416 fis, clone BRACE3001066, highly similar to Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant 3, mRNA.
AK124835 - Homo sapiens cDNA FLJ42845 fis, clone BRHIP2003786, moderately similar to CCA3.
AK127295 - Homo sapiens cDNA FLJ45362 fis, clone BRHIP3014675, highly similar to Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant 2, mRNA.
AK127012 - Homo sapiens cDNA FLJ45068 fis, clone BRAWH3025157, highly similar to Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant 3, mRNA.
BC027931 - Homo sapiens BTB (POZ) domain containing 11, mRNA (cDNA clone IMAGE:5199752).
AY373588 - Homo sapiens ANK-repeat BTB domain containing protein mRNA, complete cds.
AK128445 - Homo sapiens cDNA FLJ46588 fis, clone THYMU3044075, highly similar to Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant 3, mRNA.
AK091276 - Homo sapiens cDNA FLJ33957 fis, clone CTONG2018655, moderately similar to Cca3 protein.
AX746891 - Sequence 416 from Patent EP1308459.
BC093629 - Homo sapiens BTB (POZ) domain containing 11, mRNA (cDNA clone IMAGE:7939474), partial cds.
BC093627 - Homo sapiens BTB (POZ) domain containing 11, mRNA (cDNA clone IMAGE:7939472), partial cds.
BC101561 - Homo sapiens BTB (POZ) domain containing 11, mRNA (cDNA clone IMAGE:8069067), complete cds.
BC101563 - Homo sapiens BTB (POZ) domain containing 11, mRNA (cDNA clone IMAGE:8069069), complete cds.

-  Other Names for This Gene
  Alternate Gene Symbols: A6QL63-2, BC146824, NM_001018072, NP_001018082
UCSC ID: uc009zut.1
RefSeq Accession: NM_001018072
Protein: A6QL63-2, splice isoform of A6QL63

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: BC146824.1
exon count: 10CDS single in 3' UTR: no RNA size: 2886
ORF size: 2379CDS single in intron: no Alignment % ID: 99.97
txCdsPredict score: 4817.00frame shift in genome: no % Coverage: 99.51
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: no 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.