Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

CTNND1 (catenin (cadherin-associated protein), delta 1)

Written2010-05Michael R Dohn, Albert B Reynolds
Department of Cancer Biology, Vanderbilt University, Nashville, TN, USA

(Note : for Links provided by Atlas : click)

Identity

Alias_namesCTNND
catenin (cadherin-associated protein)
Alias_symbol (synonym)KIAA0384
p120
p120cas
p120ctn
Other aliasCAS
P120CAS
P120CTN
HGNC (Hugo) CTNND1
LocusID (NCBI) 1500
Atlas_Id 40197
Location 11q12.1  [Link to chromosome band 11q12]
Location_base_pair Starts at 57529234 and ends at 57586652 bp from pter ( according to hg19-Feb_2009)  [Mapping CTNND1.png]
Fusion genes
(updated 2016)
C11orf31 (11q12.1) / CTNND1 (11q12.1)CTNND1 (11q12.1) / ARHGEF10L (1p36.13)CTNND1 (11q12.1) / CTNND1 (11q12.1)
CTNND1 (11q12.1) / DDAH2 (6p21.33)CTNND1 (11q12.1) / DOCK8 (9p24.3)CTNND1 (11q12.1) / PLD5 (1q43)
CTNND1 (11q12.1) / PLSCR1 (3q24)CTNND1 (11q12.1) / TMX2 (11q12.1)CTNND1 (11q12.1) / ZDHHC5 (11q12.1)
CTNND1 (11q12.1) / ZNFX1 (20q13.13)FLT1 (13q12.3) / CTNND1 (11q12.1)PSMD11 (17q11.2) / CTNND1 (11q12.1)
RPS24 (10q22.3) / CTNND1 (11q12.1)STEAP4 (7q21.12) / CTNND1 (11q12.1)TMX2 (11q12.1) / CTNND1 (11q12.1)
Note Bases 57,529,234-57,586,651 on chromosome 11.

DNA/RNA

 
  CTNND1/p120 gene structure. DNA of CTNND1 gene (NM_001085458.1) composed of 19 coding exons (red). Untranslated regions are depicted in green.
Description DNA contains 57419 bp composed of 21 exons, 19 of which are coding exons.
Transcription Alternative transcription produces several distinct mRNAs ranging from 5676 bp to 6329 bp, transcribed in centromeric to telomeric orientation, with open reading frames ranging from 2802 bp to 2904 bp.
Pseudogene None.

Protein

 
  CTNND1/p120 protein structure. p120 contains four translational start sites (1-4, arrows) and three alternatively transcribed exons A, B, and C (red boxes). Isoform-1 contains an amino-terminal coiled coil domain (CC), and a phosphorylation domain (PD) is present in all but isoform-4. All isoforms contain a central Armadillo repeat domain (gray boxes).
Description This gene encodes a member of the Armadillo (Arm) family of proteins, which function in cell-cell adhesion and signal transduction, and is the prototype for a subfamily of proteins that includes p120-catenin (hereafter p120), delta-catenin, p0071, and plakophilins 1-3 (PKP1, PKP2, PKP3). CTNND1/p120 has four distinct translation start codons (isoforms 1-4) and three alternatively spliced exons (A, B, and C), potentially resulting in 32 isoforms as products of alternative splicing. A coiled-coil domain is present in the extreme amino-terminus of the long-isoform (isoform-1), and an amino terminal phosphorylation domain is present in all but the shortest isoform (isoform-4). All p120 isoforms contain a central Arm domain consisting of nine Arm repeats. p120 has been shown to be post-translationally modified by phosphorylation on tyrosine, serine, and threonine residues, as well as by cleavage by the protease calpain. Phosphorylation of p120 may be regulated in part via interactions with non-receptor tyrosine kinases, (including Fer, Fyn, and Yes) and protein tyrosine phosphatases (including PTPmu, SHP-1, and DEP-1).
Expression p120 isoforms have been detected in all tissues examined, although cells of epithelial origin tend to predominantly express isoform 3, whereas motile, fibroblastoid cells often express isoform 1.
Localisation Cell-cell junctions (bound to cadherin molecules), cytoplasm, and nucleus.
Function CTNND1/p120 was originally identified as a substrate for the Src oncogene and for various receptor tyrosine kinases, though its most prominent role is in stabilizing adherens junctions. Via its Arm domain, p120 binds to the juxtamembrane region of the cytoplasmic tails of type I and II cadherins. Upon removal of p120, by either gene knock-out or shRNA-mediated knock-down, adherens junction components, namely cadherin, beta-catenin, and alpha-catenin, are internalized and rapidly degraded. p120 also likely participates in the rearrangement of the actin cytoskeleton via regulation of Rho family GTPases, and p120 may also influence gene expression via its interaction in the nucleus and cytoplasm with the transcriptional repressor Kaiso.
Homology Pan troglodytes - CTNND1; Canis lupus familiaris - CTNND1; Bos taurus - CTNND1; Mus musculus - Ctnnd1; Rattus norvegicus - Ctnnd1; Gallus gallus - RCJMB04_21j12; Danio rerio - LOC556726.

Mutations

Note While p120 is frequently decreased in a wide variety of cancers, the only mutated p120 identified to date is found in colonic SW48 cells. In these cells, a heterozygous nonsense mutation in exon 7 at nucleotide 1908 (C to T) yields a premature stop codon that truncates the protein in the third ARM repeat. Several other cDNA abnormalities, including deletion of exon 17, retention of intron 19, or retention of both introns 19 and 20, were also identified in both p120 alleles in these cells, resulting in premature stop codons that eliminate the normal p120 COOH terminus.

Implicated in

Note
  
Entity Various cancers
Note p120's ability to stabilize E-cadherin, a tumor suppressor, suggests that p120 may play a role in tumor and/or metastasis suppression. Indeed, p120 is often lost, downregulated, or mislocalized in human colon, breast, prostate, lung, and other carcinomas. Total p120 knockout is embryonically lethal in mice, but conditional knockout studies have shown that p120 loss in the salivary gland induces dysplasia indistinguishable from high-grade intraepithelial neoplasia, and p120 ablation in the epidermis induces hyperproliferation and inflammation. However, recent studies have also identified a requirement for p120 in anchorage-independent growth of both tumor cell lines and oncogene-transformed cell lines. Moreover, a role for p120 and its binding partner Kaiso in Wnt signaling, which is often hyperactive in colon cancer, is becoming increasingly evident.
  
  
Entity Breast cancer
Note cDNA microarray analysis revealed a downregulation of p120 in invasive breast cancers compared to their respective benign control breast tissues, and immunohistochemical analyses of tissue samples from 341 invasive breast cancer patients found that p120 downregulation predicted a 3.1-fold risk in breast cancer death.
Additionally, translation initiation factor eIF4GI-enhanced translation of IRES-containing p120 mRNAs has been shown to promote tumor emboli formation in inflammatory breast cancer.
  
  
Entity Lung cancer
Note A study of 138 patients with non-small cell lung cancer found that p120 membrane localization was reduced and ectopic cytoplasmic expression was increased in lung cancer tissues. Abnormal p120 localization correlated with TNM stage and lymph node metastasis.
  
  
Entity Skin cancer
Note p120 was found to be altered in squamous cell carcinomas in humans, and conditional ablation of p120 in the epidermis in mice led to progressive development of skin neoplasias.
  

Bibliography

Human p120ctn catenin: tissue-specific expression of isoforms and molecular interactions with BP180/type XVII collagen.
Aho S, Rothenberger K, Uitto J.
J Cell Biochem. 1999 Jun 1;73(3):390-9.
PMID 10321838
 
Inhibition of RhoA by p120 catenin.
Anastasiadis PZ, Moon SY, Thoreson MA, Mariner DJ, Crawford HC, Zheng Y, Reynolds AB.
Nat Cell Biol. 2000 Sep;2(9):637-44.
PMID 10980705
 
PDGF receptor activation induces p120-catenin phosphorylation at serine 879 via a PKCalpha-dependent pathway.
Brown MV, Burnett PE, Denning MF, Reynolds AB.
Exp Cell Res. 2009 Jan 1;315(1):39-49. Epub 2008 Oct 11.
PMID 18950621
 
Structure of the armadillo repeat domain of plakophilin 1.
Choi HJ, Weis WI.
J Mol Biol. 2005 Feb 11;346(1):367-76. Epub 2004 Dec 19.
PMID 15663951
 
The catenin p120(ctn) interacts with Kaiso, a novel BTB/POZ domain zinc finger transcription factor.
Daniel JM, Reynolds AB.
Mol Cell Biol. 1999 May;19(5):3614-23.
PMID 10207085
 
A core function for p120-catenin in cadherin turnover.
Davis MA, Ireton RC, Reynolds AB.
J Cell Biol. 2003 Nov 10;163(3):525-34.
PMID 14610055
 
Blocked acinar development, E-cadherin reduction, and intraepithelial neoplasia upon ablation of p120-catenin in the mouse salivary gland.
Davis MA, Reynolds AB.
Dev Cell. 2006 Jan;10(1):21-31.
PMID 16399075
 
An essential role for p120-catenin in Src- and Rac1-mediated anchorage-independent cell growth.
Dohn MR, Brown MV, Reynolds AB.
J Cell Biol. 2009 Feb 9;184(3):437-50. Epub 2009 Feb 2.
PMID 19188496
 
PDGF, CSF-1, and EGF induce tyrosine phosphorylation of p120, a pp60src transformation-associated substrate.
Downing JR, Reynolds AB.
Oncogene. 1991 Apr;6(4):607-13.
PMID 1851549
 
p120 catenin affects cell motility via modulation of activity of Rho-family GTPases: a link between cell-cell contact formation and regulation of cell locomotion.
Grosheva I, Shtutman M, Elbaum M, Bershadsky AD.
J Cell Sci. 2001 Feb;114(Pt 4):695-707.
PMID 11171375
 
The transmembrane receptor protein tyrosine phosphatase DEP1 interacts with p120(ctn).
Holsinger LJ, Ward K, Duffield B, Zachwieja J, Jallal B.
Oncogene. 2002 Oct 10;21(46):7067-76.
PMID 12370829
 
A novel role for p120 catenin in E-cadherin function.
Ireton RC, Davis MA, van Hengel J, Mariner DJ, Barnes K, Thoreson MA, Anastasiadis PZ, Matrisian L, Bundy LM, Sealy L, Gilbert B, van Roy F, Reynolds AB.
J Cell Biol. 2002 Nov 11;159(3):465-76. Epub 2002 Nov 11.
PMID 12427869
 
Tyrosine phosphorylation of a 120-kilodalton pp60src substrate upon epidermal growth factor and platelet-derived growth factor receptor stimulation and in polyomavirus middle-T-antigen-transformed cells.
Kanner SB, Reynolds AB, Parsons JT.
Mol Cell Biol. 1991 Feb;11(2):713-20.
PMID 1703631
 
The protein-tyrosine phosphatase SHP-1 binds to and dephosphorylates p120 catenin.
Keilhack H, Hellman U, van Hengel J, van Roy F, Godovac-Zimmermann J, Bohmer FD.
J Biol Chem. 2000 Aug 25;275(34):26376-84.
PMID 10835420
 
Molecular cloning of the human p120ctn catenin gene (CTNND1): expression of multiple alternatively spliced isoforms.
Keirsebilck A, Bonne S, Staes K, van Hengel J, Nollet F, Reynolds A, van Roy F.
Genomics. 1998 Jun 1;50(2):129-46.
PMID 9653641
 
Non-canonical Wnt signals are modulated by the Kaiso transcriptional repressor and p120-catenin.
Kim SW, Park JI, Spring CM, Sater AK, Ji H, Otchere AA, Daniel JM, McCrea PD.
Nat Cell Biol. 2004 Dec;6(12):1212-20. Epub 2004 Nov 14.
PMID 15543138
 
Abnormal expression of p120-catenin, E-cadherin, and small GTPases is significantly associated with malignant phenotype of human lung cancer.
Liu Y, Wang Y, Zhang Y, Miao Y, Zhao Y, Zhang PX, Jiang GY, Zhang JY, Han Y, Lin XY, Yang LH, Li QC, Zhao C, Wang EH.
Lung Cancer. 2009 Mar;63(3):375-82. Epub 2009 Jan 21.
PMID 19162367
 
EGFR signaling to p120-catenin through phosphorylation at Y228.
Mariner DJ, Davis MA, Reynolds AB.
J Cell Sci. 2004 Mar 15;117(Pt 8):1339-50. Epub 2004 Mar 2.
PMID 14996911
 
p120 catenin regulates the actin cytoskeleton via Rho family GTPases.
Noren NK, Liu BP, Burridge K, Kreft B.
J Cell Biol. 2000 Aug 7;150(3):567-80.
PMID 10931868
 
Ischemia promotes calpain-mediated degradation of p120-catenin in SH-SY5Y cells.
Ohno H, Uemura K, Shintani-Ishida K, Nakamura M, Inomata M, Yoshida K.
Biochem Biophys Res Commun. 2007 Feb 16;353(3):547-52. Epub 2006 Dec 18.
PMID 17196166
 
Frodo links Dishevelled to the p120-catenin/Kaiso pathway: distinct catenin subfamilies promote Wnt signals.
Park JI, Ji H, Jun S, Gu D, Hikasa H, Li L, Sokol SY, McCrea PD.
Dev Cell. 2006 Nov;11(5):683-95.
PMID 17084360
 
Kaiso/p120-catenin and TCF/beta-catenin complexes coordinately regulate canonical Wnt gene targets.
Park JI, Kim SW, Lyons JP, Ji H, Nguyen TT, Cho K, Barton MC, Deroo T, Vleminckx K, Moon RT, McCrea PD.
Dev Cell. 2005 Jun;8(6):843-54.
PMID 15935774
 
p120-catenin mediates inflammatory responses in the skin.
Perez-Moreno M, Davis MA, Wong E, Pasolli HA, Reynolds AB, Fuchs E.
Cell. 2006 Feb 10;124(3):631-44.
PMID 16469707
 
p120 Catenin-associated Fer and Fyn tyrosine kinases regulate beta-catenin Tyr-142 phosphorylation and beta-catenin-alpha-catenin Interaction.
Piedra J, Miravet S, Castano J, Palmer HG, Heisterkamp N, Garcia de Herreros A, Dunach M.
Mol Cell Biol. 2003 Apr;23(7):2287-97.
PMID 12640114
 
The p120 catenin partner Kaiso is a DNA methylation-dependent transcriptional repressor.
Prokhortchouk A, Hendrich B, Jorgensen H, Ruzov A, Wilm M, Georgiev G, Bird A, Prokhortchouk E.
Genes Dev. 2001 Jul 1;15(13):1613-8.
PMID 11445535
 
Transformation-specific tyrosine phosphorylation of a novel cellular protein in chicken cells expressing oncogenic variants of the avian cellular src gene.
Reynolds AB, Roesel DJ, Kanner SB, Parsons JT.
Mol Cell Biol. 1989 Feb;9(2):629-38.
PMID 2469003
 
Essential role for eIF4GI overexpression in the pathogenesis of inflammatory breast cancer.
Silvera D, Arju R, Darvishian F, Levine PH, Zolfaghari L, Goldberg J, Hochman T, Formenti SC, Schneider RJ.
Nat Cell Biol. 2009 Jul;11(7):903-8. Epub 2009 Jun 14.
PMID 19525934
 
p120 catenin induces opposing effects on tumor cell growth depending on E-cadherin expression.
Soto E, Yanagisawa M, Marlow LA, Copland JA, Perez EA, Anastasiadis PZ.
J Cell Biol. 2008 Nov 17;183(4):737-49.
PMID 19015320
 
The catenin p120ctn inhibits Kaiso-mediated transcriptional repression of the beta-catenin/TCF target gene matrilysin.
Spring CM, Kelly KF, O'Kelly I, Graham M, Crawford HC, Daniel JM.
Exp Cell Res. 2005 May 1;305(2):253-65.
PMID 15817151
 
Altered expression of p120catenin predicts poor outcome in invasive breast cancer.
Talvinen K, Tuikkala J, Nykanen M, Nieminen A, Anttinen J, Nevalainen OS, Hurme S, Kuopio T, Kronqvist P.
J Cancer Res Clin Oncol. 2010 Feb 12. [Epub ahead of print]
PMID 20151151
 
Altered expression of the catenin p120 in human cancer: implications for tumor progression.
Thoreson MA, Reynolds AB.
Differentiation. 2002 Dec;70(9-10):583-9. (REVIEW)
PMID 12492499
 
p120 serine and threonine phosphorylation is controlled by multiple ligand-receptor pathways but not cadherin ligation.
Xia X, Carnahan RH, Vaughan MH, Wildenberg GA, Reynolds AB.
Exp Cell Res. 2006 Oct 15;312(17):3336-48. Epub 2006 Jul 25.
PMID 16935280
 
Adhesion-associated and PKC-modulated changes in serine/threonine phosphorylation of p120-catenin.
Xia X, Mariner DJ, Reynolds AB.
Biochemistry. 2003 Aug 5;42(30):9195-204.
PMID 12885254
 
Cellular levels of p120 catenin function as a set point for cadherin expression levels in microvascular endothelial cells.
Xiao K, Allison DF, Buckley KM, Kottke MD, Vincent PA, Faundez V, Kowalczyk AP.
J Cell Biol. 2003 Nov 10;163(3):535-45.
PMID 14610056
 
Receptor protein-tyrosine phosphatase RPTPmu binds to and dephosphorylates the catenin p120(ctn).
Zondag GC, Reynolds AB, Moolenaar WH.
J Biol Chem. 2000 Apr 14;275(15):11264-9.
PMID 10753936
 
Diverse functions of p120ctn in tumors.
van Hengel J, van Roy F.
Biochim Biophys Acta. 2007 Jan;1773(1):78-88. Epub 2006 Aug 30. (REVIEW)
PMID 17030444
 

Citation

This paper should be referenced as such :
Dohn, MR ; Reynolds, AB
CTNND1 (catenin (cadherin-associated protein), delta 1)
Atlas Genet Cytogenet Oncol Haematol. 2011;15(2):128-131.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/CTNND1ID40197ch11q11.html


External links

Nomenclature
HGNC (Hugo)CTNND1   2515
Cards
AtlasCTNND1ID40197ch11q11
Entrez_Gene (NCBI)CTNND1  1500  catenin delta 1
AliasesCAS; CTNND; P120CAS; P120CTN; 
p120; p120(CAS); p120(CTN)
GeneCards (Weizmann)CTNND1
Ensembl hg19 (Hinxton)ENSG00000198561 [Gene_View]  chr11:57529234-57586652 [Contig_View]  CTNND1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000198561 [Gene_View]  chr11:57529234-57586652 [Contig_View]  CTNND1 [Vega]
ICGC DataPortalENSG00000198561
TCGA cBioPortalCTNND1
AceView (NCBI)CTNND1
Genatlas (Paris)CTNND1
WikiGenes1500
SOURCE (Princeton)CTNND1
Genetics Home Reference (NIH)CTNND1
Genomic and cartography
GoldenPath hg19 (UCSC)CTNND1  -     chr11:57529234-57586652 +  11q12.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CTNND1  -     11q12.1   [Description]    (hg38-Dec_2013)
EnsemblCTNND1 - 11q12.1 [CytoView hg19]  CTNND1 - 11q12.1 [CytoView hg38]
Mapping of homologs : NCBICTNND1 [Mapview hg19]  CTNND1 [Mapview hg38]
OMIM601045   
Gene and transcription
Genbank (Entrez)AF062317 AF062318 AF062319 AF062320 AF062321
RefSeq transcript (Entrez)NM_001085458 NM_001085459 NM_001085460 NM_001085461 NM_001085462 NM_001085463 NM_001085464 NM_001085465 NM_001085466 NM_001085467 NM_001085468 NM_001085469 NM_001206883 NM_001206884 NM_001206885 NM_001206886 NM_001206887 NM_001206888 NM_001206889 NM_001206890 NM_001206891 NM_001331
RefSeq genomic (Entrez)NC_000011 NC_018922 NG_029078 NT_167190 NW_004929380
Consensus coding sequences : CCDS (NCBI)CTNND1
Cluster EST : UnigeneHs.166011 [ NCBI ]
CGAP (NCI)Hs.166011
Alternative Splicing GalleryENSG00000198561
Gene ExpressionCTNND1 [ NCBI-GEO ]   CTNND1 [ EBI - ARRAY_EXPRESS ]   CTNND1 [ SEEK ]   CTNND1 [ MEM ]
Gene Expression Viewer (FireBrowse)CTNND1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1500
GTEX Portal (Tissue expression)CTNND1
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60716   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO60716  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO60716
Splice isoforms : SwissVarO60716
PhosPhoSitePlusO60716
Domaine pattern : Prosite (Expaxy)ARM_REPEAT (PS50176)   
Domains : Interpro (EBI)ARM-like    ARM-type_fold    Armadillo    Catenin_d1    Plakophilin/d_Catenin   
Domain families : Pfam (Sanger)Arm (PF00514)   
Domain families : Pfam (NCBI)pfam00514   
Domain families : Smart (EMBL)ARM (SM00185)  
Conserved Domain (NCBI)CTNND1
DMDM Disease mutations1500
Blocks (Seattle)CTNND1
PDB (SRS)3L6X    3L6Y   
PDB (PDBSum)3L6X    3L6Y   
PDB (IMB)3L6X    3L6Y   
PDB (RSDB)3L6X    3L6Y   
Structural Biology KnowledgeBase3L6X    3L6Y   
SCOP (Structural Classification of Proteins)3L6X    3L6Y   
CATH (Classification of proteins structures)3L6X    3L6Y   
SuperfamilyO60716
Human Protein AtlasENSG00000198561
Peptide AtlasO60716
HPRD03026
IPIIPI00942869   IPI00219725   IPI00219726   IPI00219727   IPI00219728   IPI00219730   IPI00219731   IPI00219732   IPI00219733   IPI00219734   IPI00219735   IPI00182469   IPI00219737   IPI00219738   IPI00219739   IPI00219741   IPI00219742   IPI00219743   IPI00219744   IPI00219745   IPI00219746   IPI00219747   IPI00182540   IPI00219748   IPI00219749   IPI00219750   IPI00219869   IPI00219870   IPI00219872   IPI00219873   IPI00845519   IPI00219875   IPI01019120   IPI00983022   IPI00419482   IPI00979192   IPI00981242   IPI00977746   IPI01008821   IPI00977549   IPI01008933   IPI00979052   
Protein Interaction databases
DIP (DOE-UCLA)O60716
IntAct (EBI)O60716
FunCoupENSG00000198561
BioGRIDCTNND1
STRING (EMBL)CTNND1
ZODIACCTNND1
Ontologies - Pathways
QuickGOO60716
Ontology : AmiGOreceptor binding  protein binding  nucleus  cytoplasm  cytosol  plasma membrane  plasma membrane  plasma membrane  cell-cell junction  zonula adherens  transcription, DNA-templated  regulation of transcription, DNA-templated  cell adhesion  brain development  Wnt signaling pathway  single organismal cell-cell adhesion  protein kinase binding  lamellipodium  growth cone  midbody  adherens junction organization  dendritic spine  cadherin binding  extracellular exosome  negative regulation of canonical Wnt signaling pathway  
Ontology : EGO-EBIreceptor binding  protein binding  nucleus  cytoplasm  cytosol  plasma membrane  plasma membrane  plasma membrane  cell-cell junction  zonula adherens  transcription, DNA-templated  regulation of transcription, DNA-templated  cell adhesion  brain development  Wnt signaling pathway  single organismal cell-cell adhesion  protein kinase binding  lamellipodium  growth cone  midbody  adherens junction organization  dendritic spine  cadherin binding  extracellular exosome  negative regulation of canonical Wnt signaling pathway  
Pathways : KEGGRap1 signaling pathway    Adherens junction    Leukocyte transendothelial migration   
REACTOMEO60716 [protein]
REACTOME Pathways418990 [pathway]   5218920 [pathway]   8876493 [pathway]   
NDEx NetworkCTNND1
Atlas of Cancer Signalling NetworkCTNND1
Wikipedia pathwaysCTNND1
Orthology - Evolution
OrthoDB1500
GeneTree (enSembl)ENSG00000198561
Phylogenetic Trees/Animal Genes : TreeFamCTNND1
HOVERGENO60716
HOGENOMO60716
Homologs : HomoloGeneCTNND1
Homology/Alignments : Family Browser (UCSC)CTNND1
Gene fusions - Rearrangements
Fusion : MitelmanCTNND1/DDAH2 [11q12.1/6p21.33]  
Fusion : MitelmanCTNND1/DOCK8 [11q12.1/9p24.3]  [t(9;11)(p24;q12)]  
Fusion : MitelmanCTNND1/TMX2 [11q12.1/11q12.1]  [t(11;11)(q12;q12)]  
Fusion : MitelmanCTNND1/ZDHHC5 [11q12.1/11q12.1]  [t(11;11)(q12;q12)]  
Fusion : MitelmanCTNND1/ZNFX1 [11q12.1/20q13.13]  [t(11;20)(q12;q13)]  
Fusion: TCGACTNND1 11q12.1 DDAH2 6p21.33 BRCA
Fusion: TCGACTNND1 11q12.1 DOCK8 9p24.3 LUAD
Fusion: TCGACTNND1 11q12.1 TMX2 11q12.1 BRCA KIRC
Fusion: TCGACTNND1 11q12.1 ZDHHC5 11q12.1 LUAD
Fusion: TCGACTNND1 11q12.1 ZNFX1 20q13.13 BLCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCTNND1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CTNND1
dbVarCTNND1
ClinVarCTNND1
1000_GenomesCTNND1 
Exome Variant ServerCTNND1
ExAC (Exome Aggregation Consortium)CTNND1 (select the gene name)
Genetic variants : HAPMAP1500
Genomic Variants (DGV)CTNND1 [DGVbeta]
DECIPHER (Syndromes)11:57529234-57586652  ENSG00000198561
CONAN: Copy Number AnalysisCTNND1 
Mutations
ICGC Data PortalCTNND1 
TCGA Data PortalCTNND1 
Broad Tumor PortalCTNND1
OASIS PortalCTNND1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCTNND1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCTNND1
intOGen PortalCTNND1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CTNND1
DgiDB (Drug Gene Interaction Database)CTNND1
DoCM (Curated mutations)CTNND1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CTNND1 (select a term)
intoGenCTNND1
NCG5 (London)CTNND1
Cancer3DCTNND1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601045   
Orphanet
MedgenCTNND1
Genetic Testing Registry CTNND1
NextProtO60716 [Medical]
TSGene1500
GENETestsCTNND1
Huge Navigator CTNND1 [HugePedia]
snp3D : Map Gene to Disease1500
BioCentury BCIQCTNND1
ClinGenCTNND1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1500
Chemical/Pharm GKB GenePA27016
Clinical trialCTNND1
Miscellaneous
canSAR (ICR)CTNND1 (select the gene name)
Probes
Litterature
PubMed228 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCTNND1
EVEXCTNND1
GoPubMedCTNND1
iHOPCTNND1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 13:38:49 CET 2017

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.