Gene Gene information from NCBI Gene database.
Entrez ID 1500
Gene name Catenin delta 1
Gene symbol CTNND1
Synonyms (NCBI Gene)
BCDS2CASCTNNDP120CASP120CTNp120p120(CAS)p120(CTN)
Chromosome 11
Chromosome location 11q12.1
Summary 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.
813
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
51
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601045 2515 ENSG00000198561
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
20
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Blepharocheilodontic syndrome 2 Pathogenic; Likely pathogenic rs2137277484, rs2137392998, rs2062049610, rs2497138959, rs2497140154, rs2137126246, rs2497730659, rs1277132301, rs1555057581, rs1555053981, rs1591672193, rs2062048292, rs2062434410 RCV001780590
RCV001808263
RCV001843838
RCV002810037
RCV003157999
View all (8 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cleft lip with or without cleft palate Likely pathogenic; Pathogenic rs1591672193, rs2061409627, rs2062048292, rs1314067686, rs780642639, rs2062949363, rs2063072465 RCV001034557
RCV001034558
RCV001034556
RCV001034560
RCV001034562
View all (2 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CTNND1-related disorder Likely pathogenic rs2497334592 RCV003894646
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Actinic keratosis Actinic keratosis BEFREE 15598753
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma LHGDN 12115574
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 17614852, 19154401, 23839039, 27941559, 9815576
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 23839039, 27299185
★☆☆☆☆
Found in Text Mining only
Adenoma Adenoma BEFREE 9854589
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 7651399
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 28570763
★☆☆☆☆
Found in Text Mining only
Aneuploidy Aneuploidy Pubtator 35660718 Inhibit
★☆☆☆☆
Found in Text Mining only
Anus, Imperforate Imperforate anus HPO_DG
★☆☆☆☆
Found in Text Mining only
Apraxia, Developmental Verbal Apraxia BEFREE 22909774, 27155185, 30266356, 31221009, 31221010
★☆☆☆☆
Found in Text Mining only