Gene Gene information from NCBI Gene database.
Entrez ID 25776
Gene name Chibby 1, beta catenin antagonist
Gene symbol CBY1
Synonyms (NCBI Gene)
C22orf2CBYChibby1HS508I15APGEA1PIGEA-14PIGEA14arb1
Chromosome 22
Chromosome location 22q13.1
Summary Beta-catenin is a transcriptional activator and oncoprotein involved in the development of several cancers. The protein encoded by this gene interacts directly with the C-terminal region of beta-catenin, inhibiting oncogenic beta-catenin-mediated transcri
miRNA miRNA information provided by mirtarbase database.
271
miRTarBase ID miRNA Experiments Reference
MIRT029177 hsa-miR-26b-5p Microarray 19088304
MIRT047988 hsa-miR-30c-5p CLASH 23622248
MIRT552287 hsa-miR-548c-3p PAR-CLIP 20371350
MIRT087870 hsa-miR-548n PAR-CLIP 20371350
MIRT087867 hsa-miR-562 PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
41
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 15194699, 16424001, 18573912, 19940019, 21182262, 25416956, 27173435, 27528616, 28514442, 32296183, 32814053, 33961781, 35271311
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IDA 12712206
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607757 1307 ENSG00000100211
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9Y3M2
Protein name Protein chibby homolog 1 (ARPP-binding protein) (Cytosolic leucine-rich protein) (PIGEA-14) (PKD2 interactor, Golgi and endoplasmic reticulum-associated 1)
Protein function Inhibits the Wnt/Wingless pathway by binding to CTNNB1/beta-catenin and inhibiting beta-catenin-mediated transcriptional activation through competition with TCF/LEF transcription factors (PubMed:12712206, PubMed:19435523). Has also been shown to
PDB 4WRQ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF14645 Chibby 1 116 Chibby family Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Expressed at higher levels in heart, skeletal muscle, kidney and placenta. Also found in brain, lung, liver and testis. Significantly down-regulated in thyroid and metastatic uterine tumors. {ECO:0000269|PubMed:127122
Sequence
Sequence length 126
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Wnt signaling pathway   Deactivation of the beta-catenin transactivating complex
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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
Joubert syndrome Pathogenic rs747514855, rs1318058212 RCV001263194
RCV001263195
★★★★☆
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
CILIOPATHIES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CILIOPATHY GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
FAMILIAL APLASIA OF THE VERMIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ISOLATED JOUBERT SYNDROME Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Colorectal Neoplasms Associate 15245581
★☆☆☆☆
Found in Text Mining only
Leukemia Associate 26147002
★☆☆☆☆
Found in Text Mining only
Leukemia Myelogenous Chronic BCR ABL Positive Associate 24339928, 26147002
★☆☆☆☆
Found in Text Mining only