Human Gene CTBP2 (uc001lie.4)
  Description: Homo sapiens C-terminal binding protein 2 (CTBP2), transcript variant 2, mRNA.
RefSeq Summary (NM_022802): This gene produces alternative transcripts encoding two distinct proteins. One protein is a transcriptional repressor, while the other isoform is a major component of specialized synapses known as synaptic ribbons. Both proteins contain a NAD+ binding domain similar to NAD+-dependent 2-hydroxyacid dehydrogenases. A portion of the 3' untranslated region was used to map this gene to chromosome 21q21.3; however, it was noted that similar loci elsewhere in the genome are likely. Blast analysis shows that this gene is present on chromosome 10. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2014].
Transcript (Including UTRs)
   Position: hg19 chr10:126,676,418-126,716,453 Size: 40,036 Total Exon Count: 9 Strand: -
Coding Region
   Position: hg19 chr10:126,678,087-126,716,328 Size: 38,242 Coding Exon Count: 9 

Page IndexSequence and LinksPrimersGenetic AssociationsMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr10:126,676,418-126,716,453)mRNA (may differ from genome)Protein (985 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIOMIMPubMedReactomeTreefamUniProtKB
WikipediaBioGrid 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): CTBP2
CDC HuGE Published Literature: CTBP2
Positive Disease Associations: Hemoglobins , prostate cancer , Prostatic Neoplasms
Related Studies:
  1. Hemoglobins
    , , . [PubMed 0]
  2. prostate cancer
    Thomas ,et al. 2008, Multiple loci identified in a genome-wide association study of prostate cancer, Nature genetics 2008 40- 3 : 310-5. [PubMed 18264096]
  3. Prostatic Neoplasms
    , , . [PubMed 0]
           more ... click here to view the complete list

-  MalaCards Disease Associations
  MalaCards Gene Search: CTBP2
Diseases sorted by gene-association score: retinitis pigmentosa 14 (11), deafness, autosomal recessive 9 (6), prostate cancer susceptibility (5), congenital stationary night blindness (1)

-  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: 10.63 RPKM in Cervix - Endocervix
Total median expression: 250.77 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 -27.40125-0.219 Picture PostScript Text
3' UTR -393.891669-0.236 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:
PF00389 - D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain
PF02826 - D-isomer specific 2-hydroxyacid dehydrogenase, NAD binding domain

SCOP Domains:
51735 - NAD(P)-binding Rossmann-fold domains
52283 - Formate/glycerate dehydrogenase catalytic domain-like

ModBase Predicted Comparative 3D Structure on P56545-2
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 orthologGenome BrowserGenome BrowserNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
 Protein SequenceProtein Sequence   
 AlignmentAlignment   

-  Descriptions from all associated GenBank mRNAs
  LF384305 - JP 2014500723-A/191808: Polycomb-Associated Non-Coding RNAs.
AL833398 - Homo sapiens mRNA; cDNA DKFZp762O119 (from clone DKFZp762O119).
AF016507 - Homo sapiens C-terminal binding protein 2 mRNA, complete cds.
BC052276 - Homo sapiens C-terminal binding protein 2, mRNA (cDNA clone IMAGE:4562556), complete cds.
AK290390 - Homo sapiens cDNA FLJ76091 complete cds, highly similar to Homo sapiens C-terminal binding protein 2 (CTBP2), transcript variant 1, mRNA.
BC002486 - Homo sapiens C-terminal binding protein 2, mRNA (cDNA clone IMAGE:3349397), complete cds.
BC047018 - Homo sapiens C-terminal binding protein 2, mRNA (cDNA clone IMAGE:5223382), complete cds.
BC072020 - Homo sapiens C-terminal binding protein 2, mRNA (cDNA clone IMAGE:4542562), complete cds.
MA619882 - JP 2018138019-A/191808: Polycomb-Associated Non-Coding RNAs.
JD244601 - Sequence 225625 from Patent EP1572962.
JD183072 - Sequence 164096 from Patent EP1572962.
JD297061 - Sequence 278085 from Patent EP1572962.
JD091326 - Sequence 72350 from Patent EP1572962.
AK024316 - Homo sapiens cDNA FLJ14254 fis, clone OVARC1001496, highly similar to Homo sapiens C-terminal binding protein 2 mRNA.
AF222711 - Homo sapiens ribeye mRNA, complete cds.
JD411298 - Sequence 392322 from Patent EP1572962.
JD284820 - Sequence 265844 from Patent EP1572962.
JD429015 - Sequence 410039 from Patent EP1572962.
BC037900 - Homo sapiens C-terminal binding protein 2, mRNA (cDNA clone MGC:43945 IMAGE:5276086), complete cds.
JD409883 - Sequence 390907 from Patent EP1572962.
JD403379 - Sequence 384403 from Patent EP1572962.
DQ250324 - Homo sapiens C-terminal binding protein 2 mRNA, partial cds.
JD269773 - Sequence 250797 from Patent EP1572962.
KJ905721 - Synthetic construct Homo sapiens clone ccsbBroadEn_15391 CTBP2 gene, encodes complete protein.
BT007012 - Homo sapiens C-terminal binding protein 2 mRNA, complete cds.
KJ901364 - Synthetic construct Homo sapiens clone ccsbBroadEn_10758 CTBP2 gene, encodes complete protein.
AB462993 - Synthetic construct DNA, clone: pF1KB3372, Homo sapiens CTBP2 gene for C-terminal binding protein 2, without stop codon, in Flexi system.
CU677986 - Synthetic construct Homo sapiens gateway clone IMAGE:100017282 5' read CTBP2 mRNA.
CU691518 - Synthetic construct Homo sapiens gateway clone IMAGE:100020907 5' read CTBP2 mRNA.
JD369000 - Sequence 350024 from Patent EP1572962.
JD196268 - Sequence 177292 from Patent EP1572962.
JD038735 - Sequence 19759 from Patent EP1572962.
JD201097 - Sequence 182121 from Patent EP1572962.
JD082319 - Sequence 63343 from Patent EP1572962.
JD536369 - Sequence 517393 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04310 - Wnt signaling pathway
hsa04330 - Notch signaling pathway
hsa05200 - Pathways in cancer
hsa05220 - Chronic myeloid leukemia

Reactome (by CSHL, EBI, and GO)

Protein P56545 (Reactome details) participates in the following event(s):

R-HSA-5334050 TCF7L2/TCF7L1 bind CTBP1 to repress WNT target genes
R-HSA-4641265 Repression of WNT target genes
R-HSA-5339700 TCF7L2 mutants don't bind CTBP
R-HSA-195253 Degradation of beta-catenin by the destruction complex
R-HSA-4791275 Signaling by WNT in cancer
R-HSA-195721 Signaling by WNT
R-HSA-5663202 Diseases of signal transduction
R-HSA-162582 Signal Transduction
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: NM_022802, NP_073713, P56545-2
UCSC ID: uc001lie.4
RefSeq Accession: NM_022802
Protein: P56545-2, splice isoform of P56545 CCDS: CCDS7644.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_022802.2
exon count: 9CDS single in 3' UTR: no RNA size: 4752
ORF size: 2958CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 6004.00frame shift in genome: no % Coverage: 100.00
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.