G2Cdb::Gene report

Gene id
G00002235
Gene symbol
CTNNB1 (HGNC)
Species
Homo sapiens
Description
catenin (cadherin-associated protein), beta 1, 88kDa
Orthologue
G00000986 (Mus musculus)

Databases (8)

Gene
ENSG00000168036 (Ensembl human gene)
1499 (Entrez Gene)
38 (G2Cdb plasticity & disease)
CTNNB1 (GeneCards)
Literature
116806 (OMIM)
Marker Symbol
HGNC:2514 (HGNC)
Protein Expression
108 (human protein atlas)
Protein Sequence
P35222 (UniProt)

Synonyms (1)

  • beta-catenin

Diseases (34)

Disease Nervous effect Mutations Found Literature Mutations Type Genetic association?
D00000111: Familial adenomatous polyposis N Y (10398435) Microinsertion (MI) N
D00000111: Familial adenomatous polyposis N Y (10398435) Deletion (D) N
D00000111: Familial adenomatous polyposis N Y (14691304) No mutation found (N) N
D00000110: Extracolonic tumours in familiar adenomatous polyposis N Y (15287021) No mutation found (N) N
D00000064: Urothelial carcinoma N Y (11956582) No mutation found (N) N
D00000044: Endometrial cancer N Y (10671680) Microinsertion (MI) Y
D00000057: Prostate cancer N Y (11921277) Single nucleotide polymorphism (SNP) Y
D00000057: Prostate cancer N Y (9635571) Microinsertion (MI) Y
D00000022: Colorectal cancer N Y (9294210) Deletion (D) Y
D00000022: Colorectal cancer N Y (9294210) Single nucleotide polymorphism (SNP) Y
D00000022: Colorectal cancer N Y (11217439) Deletion (D) Y
D00000022: Colorectal cancer N Y (11217439) Microinsertion (MI) Y
D00000022: Colorectal cancer N Y (9515795) Unknown (?) Y
D00000022: Colorectal cancer N Y (12379157) No mutation found (N) N
D00000022: Colorectal cancer N Y (10416591) Single nucleotide polymorphism (SNP) Y
D00000022: Colorectal cancer N Y (10416591) Deletion (D) Y
D00000045: Endometrial carcinoma N Y (10416591) Single nucleotide polymorphism (SNP) Y
D00000045: Endometrial carcinoma N Y (10416591) Deletion (D) Y
D00000023: Colorectal carcinoma N Y (12408524) Unknown (?) N
D00000024: Rectal carcinoma N Y (11454429) No mutation found (N) N
D00000025: Hepatoblastoma N Y (10398436) Single nucleotide polymorphism (SNP) Y
D00000027: Hepatocellular carcinoma N Y (11429783) Single nucleotide polymorphism (SNP) Y
D00000027: Hepatocellular carcinoma N Y (11429783) Deletion (D) Y
D00000106: Infiltrating lobular breast carcinoma N Y (12800196) No mutation found (N) N
D00000046: Uterine endometrioid carcinoma N Y (11048799) Microinsertion (MI) Y
D00000046: Uterine endometrioid carcinoma N Y (11048799) Deletion (D) Y
D00000054: Ovarian epithelial tumour N Y (10876313) Microinsertion (MI) Y
D00000052: Ovarian endometrioid carcinoma N Y (9537226) Unknown (?) Y
D00000051: Ovarian endometrioid adenocarcinoma N Y (11719457) Microinsertion (MI) Y
D00000053: Ovarian endometrioid tumour N Y (10417756) Microinsertion (MI) Y
D00000109: Colorectal adenoma N Y (12737446) Unknown (?) ?
D00000113: Pilomatricoma N Y (11472567) Unknown (?) Y
D00000113: Pilomatricoma N Y (10192393) Single nucleotide polymorphism (SNP) Y
D00000043: Cervical cancer N Y (12883680) No mutation found (N) N
D00000033: Cutaneous melanoma N Y (11950921) Unknown (?) N
D00000032: Cutaneous malignant melanoma N Y (11351304) Single nucleotide polymorphism (SNP) ?
D00000074: Medulloblastoma N Y (12209999) Single nucleotide polymorphism (SNP) ?
D00000035: Malignant melanoma N Y (12124804) Single nucleotide polymorphism (SNP) Y
D00000035: Malignant melanoma N Y (12124804) Deletion (D) Y
D00000035: Malignant melanoma N Y (15133491) Single nucleotide polymorphism (SNP) Y
D00000008: Melanoma N Y (9065403) Microinsertion (MI) Y
D00000008: Melanoma N Y (11930117) Deletion (D) N
D00000120: Sporadic desmoid tumour N Y (10655994) Single nucleotide polymorphism (SNP) Y
D00000077: Primitive neuroectodermal tumour N Y (11433413) Single nucleotide polymorphism (SNP) Y
D00000082: Thyroid carcinoma N Y (11238046) Microinsertion (MI) Y
D00000080: Papillary thyroid carcinoma N Y (12474227) Unknown (?) Y
D00000002: Adenocarcinoma N Y (11170292) Microinsertion (MI) Y
D00000045: Endometrial carcinoma N Y (11957146) Repeat polymorphism (RP) Y
D00000028: Lung cancer N Y (11464291) Single nucleotide polymorphism (SNP) Y
D00000028: Lung cancer N Y (11464291) Deletion (D) Y
D00000038: Malignant mesothelioma N Y (11464291) Single nucleotide polymorphism (SNP) Y
D00000038: Malignant mesothelioma N Y (11464291) Deletion (D) Y
D00000084: Parathyroid adenoma N Y (17284619) No mutation found (N) N
D00000321: Cancer N Y (17258725) No mutation found (N) N

References

Literature (835)

Pubmed - human_disease

Component References failed to execute

Pubmed - other

Component References failed to execute

Gene lists (8)

Gene List Source Species Name Description Gene count
L00000009 G2C Homo sapiens Human PSD Human orthologues of mouse PSD adapted from Collins et al (2006) 1080
L00000015 G2C Homo sapiens Human NRC Human orthologues of mouse NRC adapted from Collins et al (2006) 186
L00000016 G2C Homo sapiens Human PSP Human orthologues of mouse PSP adapted from Collins et al (2006) 1121
L00000034 G2C Homo sapiens Pocklington H3 Human orthologues of cluster 3 (mouse) from Pocklington et al (2006) 30
L00000059 G2C Homo sapiens BAYES-COLLINS-HUMAN-PSD-CONSENSUS Human cortex PSD consensus 748
L00000061 G2C Homo sapiens BAYES-COLLINS-MOUSE-PSD-CONSENSUS Mouse cortex PSD consensus (ortho) 984
L00000069 G2C Homo sapiens BAYES-COLLINS-HUMAN-PSD-FULL Human cortex biopsy PSD full list 1461
L00000071 G2C Homo sapiens BAYES-COLLINS-MOUSE-PSD-FULL Mouse cortex PSD full list (ortho) 1556
© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

Cookies Policy | Terms and Conditions. This site is hosted by Edinburgh University and the Genes to Cognition Programme.