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Aliases for CTNND1 Gene

Aliases for CTNND1 Gene

  • Catenin Delta 1 2 3 5
  • Catenin (Cadherin-Associated Protein), Delta 1 2 3
  • Cadherin-Associated Src Substrate 3 4
  • P120 Catenin 3 4
  • CAS 3 4
  • Catenin Delta-1 3
  • P120(CAS) 3
  • P120(CTN) 3
  • P120(Cas) 4
  • P120(Ctn) 4
  • KIAA0384 4
  • P120CAS 3
  • P120CTN 3
  • BCDS2 3
  • CTNND 3
  • P120 3

External Ids for CTNND1 Gene

Previous HGNC Symbols for CTNND1 Gene

  • CTNND

Previous GeneCards Identifiers for CTNND1 Gene

  • GC11P059875
  • GC11P059042
  • GC11P057304
  • GC11P057237
  • GC11P057286
  • GC11P057240
  • GC11P057287
  • GC11P057531
  • GC11P053877

Summaries for CTNND1 Gene

Entrez Gene Summary for CTNND1 Gene

  • This gene encodes a member of the Armadillo protein family, which function in adhesion between cells and signal transduction. Multiple translation initiation codons and alternative splicing result in many different isoforms being translated. Not all of the full-length natures of the described transcript variants have been determined. Read-through transcription also exists between this gene and the neighboring upstream thioredoxin-related transmembrane protein 2 (TMX2) gene. [provided by RefSeq, Dec 2010]

GeneCards Summary for CTNND1 Gene

CTNND1 (Catenin Delta 1) is a Protein Coding gene. Diseases associated with CTNND1 include Blepharocheilodontic Syndrome 2 and Blepharocheilodontic Syndrome 1. Among its related pathways are Cytoskeletal Signaling and Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways. Gene Ontology (GO) annotations related to this gene include binding and signaling receptor binding. An important paralog of this gene is ARVCF.

UniProtKB/Swiss-Prot for CTNND1 Gene

  • Binds to and inhibits the transcriptional repressor ZBTB33, which may lead to activation of target genes of the Wnt signaling pathway (By similarity). Associates with and regulates the cell adhesion properties of both C-, E- and N-cadherins, being critical for their surface stability. Implicated both in cell transformation by SRC and in ligand-induced receptor signaling through the EGF, PDGF, CSF-1 and ERBB2 receptors. Promotes GLIS2 C-terminal cleavage.

Gene Wiki entry for CTNND1 Gene

Additional gene information for CTNND1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CTNND1 Gene

Genomics for CTNND1 Gene

GeneHancer (GH) Regulatory Elements for CTNND1 Gene

Promoters and enhancers for CTNND1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J057760 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 650.4 +10.2 10217 5.3 PKNOX1 FOXA2 SMAD1 ARNT ARID4B SIN3A DMAP1 IRF4 YY1 SLC30A9 CTNND1 MED19 YPEL4 SELENOH ENSG00000254732 UBE2L6 SMTNL1 BTBD18 PIR53177 TMX2-CTNND1
GH11J057790 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 650.3 +39.3 39340 3.3 HDGF PKNOX1 ATF1 SMAD1 STAT5A BATF IRF4 ZNF143 ETV6 ATF7 PIR53177 CTNND1 MED19 SLC43A3 SMTNL1 UBE2L6 ZDHHC5 CLP1 ENSG00000254732 GC11P057856
GH11J057751 Enhancer 0.9 Ensembl ENCODE 650.7 -1.4 -1427 0.7 SOX13 CTCF TEAD4 ARID4B ZNF48 RAD21 GATA3 ZNF143 SMC3 MIXL1 CTNND1 BTBD18 PIR32204 ENSG00000254732 TMX2-CTNND1 GC11P057680
GH11J057753 Promoter 0.7 EPDnew 650.7 +0.0 39 0.1 POLR2A ZBTB33 CTNND1 BTBD18 ENSG00000254732 PIR53177 TMX2-CTNND1 GC11P057680
GH11J058572 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.1 +824.2 824243 9.5 CLOCK DMAP1 IRF4 YY1 E2F8 ZNF143 ZNF263 SP3 NFYC PPARGC1A LPXN ZFP91 ZFP91-CNTF ENSG00000269570 ENSG00000255008 OR5B21 CLP1 ENSG00000197254 CTNND1 ZDHHC5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CTNND1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CTNND1 gene promoter:

Genomic Locations for CTNND1 Gene

Genomic Locations for CTNND1 Gene
chr11:57,753,243-57,819,546
(GRCh38/hg38)
Size:
66,304 bases
Orientation:
Plus strand
chr11:57,520,715-57,587,018
(GRCh37/hg19)

Genomic View for CTNND1 Gene

Genes around CTNND1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CTNND1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CTNND1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CTNND1 Gene

Proteins for CTNND1 Gene

  • Protein details for CTNND1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60716-CTND1_HUMAN
    Recommended name:
    Catenin delta-1
    Protein Accession:
    O60716
    Secondary Accessions:
    • A8K939
    • O15088
    • O60713
    • O60714
    • O60715
    • O60935
    • Q6DHZ7
    • Q6RBX8
    • Q9UP71
    • Q9UP72
    • Q9UP73

    Protein attributes for CTNND1 Gene

    Size:
    968 amino acids
    Molecular mass:
    108170 Da
    Quaternary structure:
    • Belongs to a multiprotein cell-cell adhesion complex that also contains E-cadherin/CDH1, alpha-catenin/CTNNA1, beta-catenin/CTNNB1, and gamma-catenin/JUP (PubMed:20371349, PubMed:15240885). Binds to the C-terminal fragment of PSEN1 and mutually competes for CDH1. Interacts with ZBTB33 (PubMed:10207085). Interacts with GLIS2 (PubMed:17344476). Interacts with FER (PubMed:7623846). Interacts with NANOS1 (via N-terminal region) (PubMed:17047063). Interacts (via N-terminus) with GNA12; the interaction regulates CDH1-mediated cell-cell adhesion (PubMed:15240885). Interacts with GNA13 (PubMed:15240885).
    SequenceCaution:
    • Sequence=BAA20838.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CTNND1 Gene

neXtProt entry for CTNND1 Gene

Post-translational modifications for CTNND1 Gene

  • Phosphorylated by FER and other protein-tyrosine kinases. Phosphorylated at Ser-288 by PAK5. Dephosphorylated by PTPRJ.
  • Ubiquitination at Lys710
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CTNND1 Gene

Domains & Families for CTNND1 Gene

Gene Families for CTNND1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CTNND1 Gene

Suggested Antigen Peptide Sequences for CTNND1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O60716

UniProtKB/Swiss-Prot:

CTND1_HUMAN :
  • A possible nuclear localization signal exists in all isoforms where Asp-626--631-Arg are deleted.
  • Belongs to the beta-catenin family.
Domain:
  • A possible nuclear localization signal exists in all isoforms where Asp-626--631-Arg are deleted.
  • ARM repeats 1 to 5 mediate interaction with cadherins.
Family:
  • Belongs to the beta-catenin family.
genes like me logo Genes that share domains with CTNND1: view

Function for CTNND1 Gene

Molecular function for CTNND1 Gene

UniProtKB/Swiss-Prot Function:
Binds to and inhibits the transcriptional repressor ZBTB33, which may lead to activation of target genes of the Wnt signaling pathway (By similarity). Associates with and regulates the cell adhesion properties of both C-, E- and N-cadherins, being critical for their surface stability. Implicated both in cell transformation by SRC and in ligand-induced receptor signaling through the EGF, PDGF, CSF-1 and ERBB2 receptors. Promotes GLIS2 C-terminal cleavage.
UniProtKB/Swiss-Prot Induction:
Induced in vascular endothelium by wounding. This effect is potentiated by prior laminar shear stress, which enhances wound closure.
GENATLAS Biochemistry:
catenin delta 1,120kDa,multiple isoforms,desmosomal plaque component regulating cell adhesion (component of E cadherin multiprotein complex, homologous to Drosophila Armadillo segment polarity gene)

Phenotypes From GWAS Catalog for CTNND1 Gene

Gene Ontology (GO) - Molecular Function for CTNND1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 signaling receptor binding IPI 19332538
GO:0005488 binding IEA --
GO:0005515 protein binding IPI 12370829
GO:0019901 protein kinase binding IEA --
GO:0045296 cadherin binding IPI,IEA 12734196
genes like me logo Genes that share ontologies with CTNND1: view
genes like me logo Genes that share phenotypes with CTNND1: view

Human Phenotype Ontology for CTNND1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for CTNND1 Gene

miRTarBase miRNAs that target CTNND1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CTNND1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CTNND1 Gene

Localization for CTNND1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CTNND1 Gene

Cytoplasm. Nucleus. Cell membrane. Note=Interaction with GLIS2 promotes nuclear translocation (By similarity). Detected at cell-cell contacts (PubMed:15240885, PubMed:17047063). NANOS1 induces its translocation from sites of cell-cell contact to the cytoplasm (PubMed:17047063). CDH1 enhances cell membrane localization (PubMed:15240885). Isoforms 4A and 1AB are excluded from the nucleus (PubMed:11896187). {ECO:0000250 UniProtKB:P30999, ECO:0000269 PubMed:11896187, ECO:0000269 PubMed:15240885, ECO:0000269 PubMed:17047063}.
Isoform 1A: Nucleus.
Isoform 2A: Nucleus.
Isoform 3A: Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CTNND1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 5
cytosol 5
cytoskeleton 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CTNND1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 20123964
GO:0005737 cytoplasm IDA,IEA 17047063
GO:0005829 cytosol IMP 20123964
GO:0005886 plasma membrane TAS,IMP --
GO:0005911 cell-cell junction IDA 12370829
genes like me logo Genes that share ontologies with CTNND1: view

Pathways & Interactions for CTNND1 Gene

genes like me logo Genes that share pathways with CTNND1: view

SIGNOR curated interactions for CTNND1 Gene

Activates:
Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CTNND1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007155 cell adhesion NAS 8808291
GO:0007420 brain development IEA --
GO:0016055 Wnt signaling pathway IEA --
genes like me logo Genes that share ontologies with CTNND1: view

Drugs & Compounds for CTNND1 Gene

(14) Drugs for CTNND1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(3) Additional Compounds for CTNND1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CTNND1: view

Transcripts for CTNND1 Gene

Unigene Clusters for CTNND1 Gene

Catenin (cadherin-associated protein), delta 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CTNND1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CTNND1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10 ^ 11a · 11b · 11c ^ 12a · 12b ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^
SP1: - -
SP2: - - - -
SP3: - - - - -
SP4: - - - - - -
SP5: - -
SP6: - -
SP7: - - -
SP8: - - - - -
SP9: - - - - - -
SP10: - - - - - -
SP11: - - - - - - - -
SP12: - - - - - - - -
SP13: - - - - - - - -
SP14: - - - - - - -
SP15: - - - - - -
SP16: - - - - - - - - -
SP17: - - - - - - - - - - -
SP18: - - - - - - - - - - -
SP19: - - - - - - - - - - -
SP20: - - - - - - - - -
SP21:
SP22: - -
SP23:
SP24: - -
SP25:
SP26:
SP27:

ExUns: 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25a · 25b ^ 26a · 26b ^ 27a · 27b ^ 28a · 28b
SP1: - -
SP2: - - -
SP3: - - -
SP4: - -
SP5: - - -
SP6: - - -
SP7: - - -
SP8: - - -
SP9: - - -
SP10: - - -
SP11: - -
SP12: - - -
SP13: - - -
SP14: - - -
SP15: - - -
SP16: - - -
SP17: - -
SP18: - - -
SP19: - - -
SP20: - - -
SP21:
SP22:
SP23: -
SP24:
SP25:
SP26:
SP27:

Relevant External Links for CTNND1 Gene

GeneLoc Exon Structure for
CTNND1
ECgene alternative splicing isoforms for
CTNND1

Expression for CTNND1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CTNND1 Gene

Protein differential expression in normal tissues from HIPED for CTNND1 Gene

This gene is overexpressed in Breast (9.9) and Islet of Langerhans (7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CTNND1 Gene



Protein tissue co-expression partners for CTNND1 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CTNND1 Gene:

CTNND1

SOURCE GeneReport for Unigene cluster for CTNND1 Gene:

Hs.166011

mRNA Expression by UniProt/SwissProt for CTNND1 Gene:

O60716-CTND1_HUMAN
Tissue specificity: Expressed in vascular endothelium. Melanocytes and melanoma cells primarily express the long isoform 1A, whereas keratinocytes express shorter isoforms, especially 3A. The shortest isoform 4A, is detected in normal keratinocytes and melanocytes, and generally lost from cells derived from squamous cell carcinomas or melanomas. The C-terminal alternatively spliced exon B is present in the p120ctn transcripts in the colon, intestine and prostate, but lost in several tumor tissues derived from these organs.

Evidence on tissue expression from TISSUES for CTNND1 Gene

  • Nervous system(4.9)
  • Liver(4.4)
  • Intestine(3.8)
  • Lung(3.8)
  • Heart(3.2)
  • Kidney(2.8)
  • Skin(2.7)
  • Eye(2.3)
  • Muscle(2.3)
  • Pancreas(2.3)
  • Stomach(2.3)
  • Lymph node(2.2)
genes like me logo Genes that share expression patterns with CTNND1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CTNND1 Gene

Orthologs for CTNND1 Gene

This gene was present in the common ancestor of animals.

Orthologs for CTNND1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CTNND1 34 33
  • 99.72 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ZDHHC5 34
  • 98 (a)
OneToOne
CTNND1 33
  • 93.83 (n)
oppossum
(Monodelphis domestica)
Mammalia CTNND1 34
  • 96 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ctnnd1 33
  • 91.61 (n)
mouse
(Mus musculus)
Mammalia Ctnnd1 16 34 33
  • 90.81 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 90 (a)
OneToMany
-- 34
  • 84 (a)
OneToMany
cow
(Bos Taurus)
Mammalia CTNND1 34 33
  • 87.99 (n)
OneToOne
chicken
(Gallus gallus)
Aves CTNND1 34 33
  • 78.05 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CTNND1 34
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ctnnd1 33
  • 60.46 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC100334714 33
  • 62.72 (n)
ctnnd1 34 34
  • 60 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta p120ctn 34 35
  • 33 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea jac-1 34 35
  • 20 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 44 (a)
OneToMany
Species where no ortholog for CTNND1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CTNND1 Gene

ENSEMBL:
Gene Tree for CTNND1 (if available)
TreeFam:
Gene Tree for CTNND1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CTNND1: view image

Paralogs for CTNND1 Gene

Paralogs for CTNND1 Gene

(6) SIMAP similar genes for CTNND1 Gene using alignment to 7 proteins:

  • CTND1_HUMAN
  • C9JZR2_HUMAN
  • E9PKL1_HUMAN
  • E9PKY0_HUMAN
  • E9PRE2_HUMAN
  • H0YC95_HUMAN
  • Q96FS1_HUMAN
genes like me logo Genes that share paralogs with CTNND1: view

Variants for CTNND1 Gene

Sequence variations from dbSNP and Humsavar for CTNND1 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1000045935 -- 57,765,062(+) C/T intron_variant
rs1000050338 -- 57,795,807(+) A/G intron_variant
rs1000104743 -- 57,771,369(+) G/C intron_variant
rs1000163245 -- 57,809,325(+) A/G coding_sequence_variant, missense_variant
rs1000210171 -- 57,811,985(+) A/G intron_variant

Structural Variations from Database of Genomic Variants (DGV) for CTNND1 Gene

Variant ID Type Subtype PubMed ID
nsv1070037 CNV deletion 25765185
nsv1136036 CNV deletion 24896259
nsv1153289 CNV deletion 26484159
nsv327 CNV deletion 18451855
nsv508633 CNV deletion 20534489
nsv832164 CNV loss 17160897
nsv975931 CNV duplication 23825009

Variation tolerance for CTNND1 Gene

Residual Variation Intolerance Score: 24.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.13; 69.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CTNND1 Gene

Human Gene Mutation Database (HGMD)
CTNND1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CTNND1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CTNND1 Gene

Disorders for CTNND1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for CTNND1 Gene - From: HGMD, OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
blepharocheilodontic syndrome 2
  • bcds2
blepharocheilodontic syndrome 1
  • bcds1
euryblepharon
distichiasis
  • eyelashes, two rows of
pulmonary sclerosing hemangioma
  • pneumocytoma
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CTND1_HUMAN
  • Blepharocheilodontic syndrome 2 (BCDS2) [MIM:617681]: A form of blepharocheilodontic syndrome, a rare autosomal dominant disorder. It is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and features of ectodermal dysplasia, including hair anomalies, conical teeth and tooth agenesis. An additional rare manifestation is imperforate anus. There is considerable phenotypic variability among affected individuals. {ECO:0000269 PubMed:28301459}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CTNND1

genes like me logo Genes that share disorders with CTNND1: view

No data available for Genatlas for CTNND1 Gene

Publications for CTNND1 Gene

  1. Dynamic and static interactions between p120 catenin and E-cadherin regulate the stability of cell-cell adhesion. (PMID: 20371349) Ishiyama N … Ikura M (Cell 2010) 3 4 22 58
  2. The transcriptional repressor Glis2 is a novel binding partner for p120 catenin. (PMID: 17344476) Hosking CR … Fujita Y (Molecular biology of the cell 2007) 3 4 22 58
  3. A role for Galpha12/Galpha13 in p120ctn regulation. (PMID: 15240885) Krakstad BF … Aragay AM (Proceedings of the National Academy of Sciences of the United States of America 2004) 3 4 22 58
  4. Laminar shear stress differentially modulates gene expression of p120 catenin, Kaiso transcription factor, and vascular endothelial cadherin in human coronary artery endothelial cells. (PMID: 14699141) Kondapalli J … Albuquerque ML (The Journal of biological chemistry 2004) 3 4 22 58
  5. Molecular cloning of the human p120ctn catenin gene (CTNND1): expression of multiple alternatively spliced isoforms. (PMID: 9653641) Keirsebilck A … van Roy F (Genomics 1998) 3 4 22 58

Products for CTNND1 Gene