Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1500
Gene name Gene Name - the full gene name approved by the HGNC.
Catenin delta 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CTNND1
Synonyms (NCBI Gene) Gene synonyms aliases
BCDS2, CAS, CTNND, P120CAS, P120CTN, p120, p120(CAS), p120(CTN)
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q12.1
Summary Summary of gene provided in NCBI Entrez 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 th
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT002658 hsa-miR-124-3p Microarray 15685193
MIRT019044 hsa-miR-335-5p Microarray 18185580
MIRT021021 hsa-miR-155-5p Other 18668040
MIRT002658 hsa-miR-124-3p Microarray 18668037
MIRT002658 hsa-miR-124-3p Microarray 15685193
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IMP 20123964
GO:0002042 Process Cell migration involved in sprouting angiogenesis ISS
GO:0002042 Process Cell migration involved in sprouting angiogenesis ISS
GO:0005102 Function Signaling receptor binding IPI 19332538
GO:0005515 Function Protein binding IPI 10207085, 12370829, 12475979, 15657067, 16354688, 17047063, 18343367, 19604117, 20123964, 20371349, 21357690, 22846708, 23990464, 24189400, 24424122, 24658140, 25009281, 25416956, 28051089, 31980649, 32296183, 33961781, 34591612, 37207277
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601045 2515 ENSG00000198561
Protein
UniProt ID O60716
Protein name Catenin delta-1 (Cadherin-associated Src substrate) (CAS) (p120 catenin) (p120(ctn)) (p120(cas))
Protein function Key regulator of cell-cell adhesion that associates with and regulates the cell adhesion properties of both C-, E- and N-cadherins, being critical for their surface stability (PubMed:14610055, PubMed:20371349). Promotes localization and retentio
PDB 3L6X , 3L6Y
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00514 Arm 397 437 Armadillo/beta-catenin-like repeat Repeat
PF00514 Arm 440 481 Armadillo/beta-catenin-like repeat Repeat
PF00514 Arm 701 739 Armadillo/beta-catenin-like repeat Repeat
Tissue specificity 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 me
Sequence
MDDSEVESTASILASVKEQEAQFEKLTRALEEERRHVSAQLERVRVSPQDANPLMANGTL
TRRHQNGRFVGDADLERQKFSDLKLNGPQDHSHLLYSTIPRMQEPGQIVETYTEEDPEGA
MSVVSVETSDDGTTRRTETTVKKVVKTVTTRTVQPVAMGPDGLPVDASSVSNNYIQTLGR
DFRKNGNGGPGPYVGQAGTATLPRNFHYPPDGYSRHYEDGYPGGSDNYGSLSRVTRIEER
YRPSMEGYRAPSRQDVYGPQPQVRVGGSSVDLHRFHPEPYGLEDDQRSMGYDDLDYGMMS
DYGTARRTGTPSDPRRRLRSYEDMIGEEVPSDQYYWAPLAQHERGSLASLDSLRKGGPPP
PNWRQPELPEVIAMLGFRLDAVKSNAAAYLQHLCYRNDKVKTDVRKLKGIPVLVGLLDHP
KKEVHLGACGALKNISF
GRDQDNKIAIKNCDGVPALVRLLRKARDMDLTEVITGTLWNLS
S
HDSIKMEIVDHALHALTDEVIIPHSGWEREPNEDCKPRHIEWESVLTNTAGCLRNVSSE
RSEARRKLRECDGLVDALIFIVQAEIGQKDSDSKLVENCVCLLRNLSYQVHREIPQAERY
QEAAPNVANNTGPHAASCFGAKKGKDEWFSRGKKPIEDPANDTVDFPKRTSPARGYELLF
QPEVVRIYISLLKESKTPAILEASAGAIQNLCAGRWTYGRYIRSALRQEKALSAIADLLT
NEHERVVKAASGALRNLAV
DARNKELIGKHAIPNLVKNLPGGQQNSSWNFSEDTVISILN
TINEVIAENLEAAKKLRETQGIEKLVLINKSGNRSEKEVRAAALVLQTIWGYKELRKPLE
KEGWKKSDFQVNLNNASRSQSSHSYDDSTLPLIDRNQKSDKKPDREEIQMSNMGSNTKSL
DNNYSTPNERGDHNRTLDRSGDLGDMEPLKGTTPLMQDEGQESLEEELDVLVLDDEGGQV
SYPSMQKI
Sequence length 968
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cleft Lip With Or Without Cleft Palate cleft lip with or without cleft palate rs1591672193, rs2061409627, rs2062048292, rs1314067686, rs780642639, rs2062949363, rs2063072465 N/A
Blepharocheilodontic Syndrome blepharocheilodontic syndrome 2 rs1555053981, rs1591672193, rs1277132301, rs1555057581 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Ovarian cancer Epithelial ovarian cancer N/A N/A GWAS
Schizophrenia Schizophrenia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acantholysis Associate 18073210
Adenocarcinoma Inhibit 15016321
Adenocarcinoma Associate 17143261, 19154401, 23839039, 26926447, 27765636, 34818353
Adenocarcinoma of Lung Associate 11583194, 23839039
Adenoma Associate 26749005
Aneuploidy Inhibit 35660718
Barrett Esophagus Associate 26926447, 34818353
Blepharo cheilo dontic syndrome Associate 28301459, 39487033
Breast Carcinoma In Situ Associate 24966968
Breast Neoplasms Associate 12475979, 15161659, 18032823, 20151151, 24228128, 25578962, 26067913, 26939613, 29216867, 31913290, 33237989, 9422525, 9729531