Gene Gene information from NCBI Gene database.
Entrez ID 1488
Gene name C-terminal binding protein 2
Gene symbol CTBP2
Synonyms (NCBI Gene)
-
Chromosome 10
Chromosome location 10q26.13
Summary This gene produces alternative transcripts encoding two distinct proteins. One protein is a transcriptional repressor, while the other isoform is a major component of specialized synapses known as synaptic ribbons. Both proteins contain a NAD+ binding dom
miRNA miRNA information provided by mirtarbase database.
446
miRTarBase ID miRNA Experiments Reference
MIRT006173 hsa-miR-141-3p Luciferase reporter assayWestern blot 21867514
MIRT006173 hsa-miR-141-3p Luciferase reporter assayWestern blot 21867514
MIRT006173 hsa-miR-141-3p Luciferase reporter assayWestern blot 21867514
MIRT023997 hsa-miR-1-3p Proteomics;Microarray 18668037
MIRT051934 hsa-let-7b-5p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
HIPK2 Unknown 23393140
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II TAS 20705609
GO:0001221 Function Transcription coregulator binding IBA
GO:0001221 Function Transcription coregulator binding IEA
GO:0001222 Function Transcription corepressor binding IPI 29628311
GO:0003713 Function Transcription coactivator activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602619 2495 ENSG00000175029
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P56545
Protein name C-terminal-binding protein 2 (CtBP2)
Protein function Corepressor targeting diverse transcription regulators. Functions in brown adipose tissue (BAT) differentiation (By similarity). ; Isoform 2 probably acts as a scaffold for specialized synapses.
PDB 2OME , 4LCJ , 6WKW , 8ATI
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00389 2-Hacid_dh 36 358 D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain Domain
PF02826 2-Hacid_dh_C 139 323 D-isomer specific 2-hydroxyacid dehydrogenase, NAD binding domain Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Highest levels in heart, skeletal muscle, and pancreas.
Sequence
Sequence length 445
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Wnt signaling pathway
Notch signaling pathway
Pathways in cancer
Chronic myeloid leukemia
  Repression of WNT target genes
TCF7L2 mutants don't bind CTBP
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
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
Pulmonary artery atresia Pathogenic rs76203768, rs755416442, rs76079088 RCV002512180
RCV002512181
RCV003107980
★★★★☆
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
CONGENITAL ATRESIA OF PULMONARY ARTERY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CTBP2-related disorder Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Likely benign ClinVar
★★☆☆☆
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
Adenoma Adenoma BEFREE 30197752
★☆☆☆☆
Found in Text Mining only
Anorexia Nervosa Anorexia BEFREE 27184124
★☆☆☆☆
Found in Text Mining only
Anorexia Nervosa Anorexia nervosa Pubtator 27184124 Associate
★☆☆☆☆
Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia Arrhythmogenic right ventricular cardiomyopathy Pubtator 29221435 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 20964627, 24522810, 28412731
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 23393140, 34074001 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 30151388 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 34878149 Inhibit
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 30151388 Stimulate
★☆☆☆☆
Found in Text Mining only
Carcinoma Ovarian Epithelial Epithelial ovarian carcinoma Pubtator 23730208, 32332713 Associate
★☆☆☆☆
Found in Text Mining only