Human Gene CTNND2 (ENST00000304623.13) from GENCODE V44
  Description: Homo sapiens catenin delta 2 (CTNND2), transcript variant 1, mRNA. (from RefSeq NM_001332)
RefSeq Summary (NM_001332): This gene encodes an adhesive junction associated protein of the armadillo/beta-catenin superfamily and is implicated in brain and eye development and cancer formation. The protein encoded by this gene promotes the disruption of E-cadherin based adherens junction to favor cell spreading upon stimulation by hepatocyte growth factor. This gene is overexpressed in prostate adenocarcinomas and is associated with decreased expression of tumor suppressor E-cadherin in this tissue. This gene resides in a region of the short arm of chromosome 5 that is deleted in Cri du Chat syndrome. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2013].
Gencode Transcript: ENST00000304623.13
Gencode Gene: ENSG00000169862.21
Transcript (Including UTRs)
   Position: hg38 chr5:10,971,836-11,904,446 Size: 932,611 Total Exon Count: 22 Strand: -
Coding Region
   Position: hg38 chr5:10,973,453-11,903,853 Size: 930,401 Coding Exon Count: 22 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:10,971,836-11,904,446)mRNA (may differ from genome)Protein (1225 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCHPRDLynxMalacardsMGIneXtProt
OMIMPubMedUniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: CTND2_HUMAN
DESCRIPTION: RecName: Full=Catenin delta-2; AltName: Full=Delta-catenin; AltName: Full=GT24; AltName: Full=Neural plakophilin-related ARM-repeat protein; Short=NPRAP; AltName: Full=Neurojungin;
FUNCTION: Functions as a transcriptional activator when bound to ZBTB33 (By similarity). May be involved in neuronal cell adhesion and tissue morphogenesis and integrity by regulating adhesion molecules.
SUBUNIT: Binds to E-cadherin at a juxtamembrane site within the cytoplasmic domain. Interacts with PDZD2. Interacts with ZBTB33 (By similarity). Binds to PSEN1. Interacts with ARHGEF28. Interacts (via the extreme C-terminus) with FRMPD2 (via the PDZ 2 domain).
SUBCELLULAR LOCATION: Nucleus (By similarity). Cell junction, adherens junction (By similarity). Perikaryon. Note=Co-localizes with CDK5 in the cell body of neuronal cells.
TISSUE SPECIFICITY: Predominantly expressed in brain; accumulates in cortical neurons (at protein level).
PTM: O-glycosylated (By similarity).
PTM: Phosphorylated upon DNA damage, probably by ATM or ATR. Phosphorylated by CDK5.
SIMILARITY: Belongs to the beta-catenin family.
SIMILARITY: Contains 9 ARM repeats.
SEQUENCE CAUTION: Sequence=AAB68599.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAB88185.1; Type=Frameshift; Positions=913;
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/ctnnd2/";

-  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: CTNND2
Diseases sorted by gene-association score: cri-du-chat syndrome* (64), pervasive developmental disorder (6), chromosomal deletion syndrome (1)
* = Manually curated disease association

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 53.16 RPKM in Brain - Anterior cingulate cortex (BA24)
Total median expression: 517.35 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 -378.20593-0.638 Picture PostScript Text
3' UTR -393.501617-0.243 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
IPR000225 - Armadillo

Pfam Domains:
PF00514 - Armadillo/beta-catenin-like repeat

ModBase Predicted Comparative 3D Structure on Q9UQB3
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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
Genome BrowserGenome BrowserGenome BrowserGenome BrowserNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGDEnsemblEnsembl  
Protein SequenceProtein SequenceProtein SequenceProtein Sequence  
AlignmentAlignmentAlignmentAlignment  

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008013 beta-catenin binding

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007155 cell adhesion
GO:0007165 signal transduction
GO:0007275 multicellular organism development
GO:0016055 Wnt signaling pathway
GO:0050808 synapse organization
GO:0060828 regulation of canonical Wnt signaling pathway
GO:0060997 dendritic spine morphogenesis
GO:0098609 cell-cell adhesion

Cellular Component:
GO:0005634 nucleus
GO:0005737 cytoplasm
GO:0005912 adherens junction
GO:0030054 cell junction
GO:0030425 dendrite
GO:0042995 cell projection
GO:0043204 perikaryon


-  Descriptions from all associated GenBank mRNAs
  U96136 - Homo sapiens delta-catenin mRNA, complete cds.
AB013805 - Homo sapiens mRNA for neural plakophilin-related arm-repeat protein (NPRAP), complete cds.
EU328348 - Homo sapiens T-cell delta-catenin mRNA, complete cds.
AK226124 - Homo sapiens mRNA for catenin, delta 2 variant, clone: fj00971.
AK294420 - Homo sapiens cDNA FLJ55967 complete cds, highly similar to Catenin delta-2.
AK296232 - Homo sapiens cDNA FLJ61296 complete cds, highly similar to Catenin delta-2.
AK299300 - Homo sapiens cDNA FLJ56233 complete cds, highly similar to Catenin delta-2.
BC111837 - Synthetic construct Homo sapiens clone IMAGE:40080647, MGC:133435 CTNND2 protein (CTNND2) mRNA, encodes complete protein.
U52351 - Homo sapiens arm-repeat protein NPRAP/neurojungin (CTNND2) mRNA, partial cds.
U52828 - Homo sapiens delta-catenin mRNA, partial cds.
AK127257 - Homo sapiens cDNA FLJ45324 fis, clone BRHIP3006449, highly similar to Catenin delta-2.
U81004 - Human GT24 (GT24) mRNA, partial cds.
U72665 - Human GT24 mRNA, complete cds.
AF035302 - Homo sapiens clone 23717 mRNA, complete cds.
JD501493 - Sequence 482517 from Patent EP1572962.
JD050064 - Sequence 31088 from Patent EP1572962.
JD039398 - Sequence 20422 from Patent EP1572962.
JD551163 - Sequence 532187 from Patent EP1572962.
JD188353 - Sequence 169377 from Patent EP1572962.
JD437587 - Sequence 418611 from Patent EP1572962.
JD268059 - Sequence 249083 from Patent EP1572962.
JD203052 - Sequence 184076 from Patent EP1572962.
JD142467 - Sequence 123491 from Patent EP1572962.
JD191918 - Sequence 172942 from Patent EP1572962.
JD467132 - Sequence 448156 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: B0FTZ7, CTND2_HUMAN, ENST00000304623.1, ENST00000304623.10, ENST00000304623.11, ENST00000304623.12, ENST00000304623.2, ENST00000304623.3, ENST00000304623.4, ENST00000304623.5, ENST00000304623.6, ENST00000304623.7, ENST00000304623.8, ENST00000304623.9, NM_001332, NPRAP, O00379, O15390, O43206, O43840, Q13589, Q9UM66, Q9UPM3, Q9UQB3, uc003jfa.1, uc003jfa.2, uc003jfa.3, uc003jfa.4
UCSC ID: ENST00000304623.13
RefSeq Accession: NM_001332
Protein: Q9UQB3 (aka CTND2_HUMAN or CTD2_HUMAN)
CCDS: CCDS3881.1

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