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CTNND2 catenin delta 2 [ Homo sapiens (human) ]

Gene ID: 1501, updated on 28-Jun-2021

Summary

Official Symbol
CTNND2provided by HGNC
Official Full Name
catenin delta 2provided by HGNC
Primary source
HGNC:HGNC:2516
See related
Ensembl:ENSG00000169862 MIM:604275
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GT24; NPRAP
Summary
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]
Expression
Biased expression in brain (RPKM 42.1) and spleen (RPKM 2.8) See more
Orthologs
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Genomic context

See CTNND2 in Genome Data Viewer
Location:
5p15.2
Exon count:
26
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (10971836..11904446, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (10971948..11904558, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized CTD-2154B17.1 Neighboring gene DAP divergent transcript Neighboring gene uncharacterized LOC105374654 Neighboring gene RNA, U6 small nuclear 429, pseudogene Neighboring gene uncharacterized LOC105374656 Neighboring gene uncharacterized LOC105374655 Neighboring gene RNA, U6 small nuclear 679, pseudogene

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
GeneReviews: Not available
Genetic Loci Associated with Circulating Levels of Very Long-Chain Saturated Fatty Acids.
GeneReviews: Not available
Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
GeneReviews: Not available
Genome-wide association studies reveal genetic variants in CTNND2 for high myopia in Singapore Chinese.
GeneReviews: Not available
Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
GeneReviews: Not available
Genome-wide association study of lung function decline in adults with and without asthma.
GeneReviews: Not available

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables beta-catenin binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables cadherin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in Wnt signaling pathway IEA
Inferred from Electronic Annotation
more info
 
involved_in cell adhesion TAS
Traceable Author Statement
more info
PubMed 
involved_in cell-cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell-cell junction assembly IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in dendritic spine morphogenesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in dendritic spine morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of canonical Wnt signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in signal transduction TAS
Traceable Author Statement
more info
PubMed 
involved_in synapse organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
is_active_in adherens junction IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in dendrite IEA
Inferred from Electronic Annotation
more info
 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in perikaryon IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
is_active_in postsynaptic density IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

Preferred Names
catenin delta-2
Names
T-cell delta-catenin
catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)
neurojungin

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_023544.2 RefSeqGene

    Range
    4553..937163
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001288715.1NP_001275644.1  catenin delta-2 isoform 2

    See identical proteins and their annotated locations for NP_001275644.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding region, uses a downstream start codon, compared to variant 1. The resulting protein (isoform 2) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AB013805, AC010626, AI680877, AK226124, DC332925, U52351, U52828
    Consensus CDS
    CCDS75228.1
    UniProtKB/Swiss-Prot
    Q9UQB3
    UniProtKB/TrEMBL
    E7EPC8
    Related
    ENSP00000426510.1, ENST00000511377.5
    Conserved Domains (6) summary
    smart00185
    Location:490530
    ARM; Armadillo/beta-catenin-like repeats
    pfam00514
    Location:743784
    Arm; Armadillo/beta-catenin-like repeat
    sd00043
    Location:461486
    ARM; armadillo repeat [structural motif]
    cl25496
    Location:164292
    Herpes_BLLF1; Herpes virus major outer envelope glycoprotein (BLLF1)
    cl27106
    Location:459632
    PLN03200; cellulose synthase-interactive protein; Provisional
    cl28033
    Location:72443
    Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region
  2. NM_001288716.1NP_001275645.1  catenin delta-2 isoform 3

    See identical proteins and their annotated locations for NP_001275645.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR and coding region, uses a downstream start codon, and lacks two alternate exons in the 5' coding region, compared to variant 1. The resulting protein (isoform 3) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC010626, AF035302, AI680877, AK299300, DB571461, DC332925
    Consensus CDS
    CCDS75227.1
    UniProtKB/Swiss-Prot
    Q9UQB3
    UniProtKB/TrEMBL
    B4DRK2
    Related
    ENSP00000426887.1, ENST00000503622.5
    Conserved Domains (4) summary
    smart00185
    Location:244284
    ARM; Armadillo/beta-catenin-like repeats
    PLN03200
    Location:213386
    PLN03200; cellulose synthase-interactive protein; Provisional
    sd00043
    Location:215240
    ARM; armadillo repeat [structural motif]
    pfam00514
    Location:288329
    Arm; Armadillo/beta-catenin-like repeat
  3. NM_001288717.2NP_001275646.1  catenin delta-2 isoform 4

    See identical proteins and their annotated locations for NP_001275646.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks an alternate internal exon and uses a downstream start codon, compared to variant 1. The resulting protein (isoform 4) is shorter and has a distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AC010626, AC127460, AI680877, AK226124, AK296232, U52351, U52828
    UniProtKB/Swiss-Prot
    Q9UQB3
    UniProtKB/TrEMBL
    B4DJU1
    Conserved Domains (4) summary
    smart00185
    Location:148188
    ARM; Armadillo/beta-catenin-like repeats
    PLN03200
    Location:117290
    PLN03200; cellulose synthase-interactive protein; Provisional
    sd00043
    Location:119144
    ARM; armadillo repeat [structural motif]
    pfam00514
    Location:401441
    Arm; Armadillo/beta-catenin-like repeat
  4. NM_001332.4NP_001323.1  catenin delta-2 isoform 1

    See identical proteins and their annotated locations for NP_001323.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).
    Source sequence(s)
    AB013805, AC010626, AC127460, DC341093, U52351, U96136
    Consensus CDS
    CCDS3881.1
    UniProtKB/Swiss-Prot
    Q9UQB3
    Related
    ENSP00000307134.8, ENST00000304623.13
    Conserved Domains (5) summary
    smart00185
    Location:581621
    ARM; Armadillo/beta-catenin-like repeats
    pfam00514
    Location:834875
    Arm; Armadillo/beta-catenin-like repeat
    sd00043
    Location:552577
    ARM; armadillo repeat [structural motif]
    cl27106
    Location:550723
    PLN03200; cellulose synthase-interactive protein; Provisional
    cl28033
    Location:163534
    Herpes_ICP4_C; Herpesvirus ICP4-like protein C-terminal region
  5. NM_001364128.2NP_001351057.1  catenin delta-2 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) differs in the 5' UTR and coding sequence, lacks two alternate exons, and contains another alternate in-frame exon compared to variant 1. The resulting isoform (6) is shorter at the N-terminus, lacks an alternate internal segment, and contains another alternate segment compared to isoform 1.
    Source sequence(s)
    AC003954, AC004648, AC005367, AC005610, AC010433, AC010626
    Conserved Domains (4) summary
    smart00185
    Location:244284
    ARM; Armadillo/beta-catenin-like repeats
    PLN03200
    Location:213386
    PLN03200; cellulose synthase-interactive protein; Provisional
    sd00043
    Location:215240
    ARM; armadillo repeat [structural motif]
    pfam00514
    Location:288329
    Arm; Armadillo/beta-catenin-like repeat

RNA

  1. NR_109988.2 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) lacks two alternate internal exons, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AC010626, AC127460, AK299300, DC341093, EU328348

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    10971836..11904446 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005248251.3XP_005248308.1  catenin delta-2 isoform X1

    See identical proteins and their annotated locations for XP_005248308.1

    Conserved Domains (4) summary
    cd00020
    Location:544666
    ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
    pfam00514
    Location:834875
    Arm; Armadillo/beta-catenin-like repeat
    pfam17052
    Location:10541113
    CAF20; Cap associated factor
    sd00043
    Location:552577
    ARM; armadillo repeat [structural motif]
  2. XM_017009072.1XP_016864561.1  catenin delta-2 isoform X4

    Related
    ENSP00000421093.1, ENST00000513588.5
    Conserved Domains (4) summary
    smart00185
    Location:335375
    ARM; Armadillo/beta-catenin-like repeats
    PLN03200
    Location:304477
    PLN03200; cellulose synthase-interactive protein; Provisional
    sd00043
    Location:306331
    ARM; armadillo repeat [structural motif]
    pfam00514
    Location:379420
    Arm; Armadillo/beta-catenin-like repeat
  3. XM_017009074.1XP_016864563.1  catenin delta-2 isoform X6

    Conserved Domains (4) summary
    smart00185
    Location:335375
    ARM; Armadillo/beta-catenin-like repeats
    PLN03200
    Location:304477
    PLN03200; cellulose synthase-interactive protein; Provisional
    sd00043
    Location:306331
    ARM; armadillo repeat [structural motif]
    pfam00514
    Location:379420
    Arm; Armadillo/beta-catenin-like repeat
  4. XM_005248252.2XP_005248309.1  catenin delta-2 isoform X2

    Conserved Domains (4) summary
    cd00020
    Location:530652
    ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
    pfam00514
    Location:820861
    Arm; Armadillo/beta-catenin-like repeat
    pfam17052
    Location:10401099
    CAF20; Cap associated factor
    sd00043
    Location:538563
    ARM; armadillo repeat [structural motif]
  5. XM_017009073.1XP_016864562.1  catenin delta-2 isoform X5

  6. XM_011513967.2XP_011512269.1  catenin delta-2 isoform X3

    See identical proteins and their annotated locations for XP_011512269.1

    Conserved Domains (4) summary
    cd00020
    Location:453575
    ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
    pfam00514
    Location:743784
    Arm; Armadillo/beta-catenin-like repeat
    pfam17052
    Location:9631022
    CAF20; Cap associated factor
    sd00043
    Location:461486
    ARM; armadillo repeat [structural motif]
  7. XM_017009075.2XP_016864564.1  catenin delta-2 isoform X7

    Conserved Domains (4) summary
    smart00185
    Location:244284
    ARM; Armadillo/beta-catenin-like repeats
    PLN03200
    Location:213386
    PLN03200; cellulose synthase-interactive protein; Provisional
    sd00043
    Location:215240
    ARM; armadillo repeat [structural motif]
    pfam00514
    Location:288329
    Arm; Armadillo/beta-catenin-like repeat
  8. XM_005248253.1XP_005248310.1  catenin delta-2 isoform X3

    See identical proteins and their annotated locations for XP_005248310.1

    Conserved Domains (4) summary
    cd00020
    Location:453575
    ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...
    pfam00514
    Location:743784
    Arm; Armadillo/beta-catenin-like repeat
    pfam17052
    Location:9631022
    CAF20; Cap associated factor
    sd00043
    Location:461486
    ARM; armadillo repeat [structural motif]
  9. XM_024454368.1XP_024310136.1  catenin delta-2 isoform X8

    Related
    ENST00000495388.6
    Conserved Domains (3) summary
    smart00185
    Location:2464
    ARM; Armadillo/beta-catenin-like repeats
    pfam00514
    Location:277318
    Arm; Armadillo/beta-catenin-like repeat
    sd00043
    Location:2864
    ARM; armadillo repeat [structural motif]
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