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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
37
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Pulmonary artery atresia Pathogenic rs76203768, rs755416442, rs76079088 RCV002512180
RCV002512181
RCV003107980
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CTBP2-related disorder Benign; Likely benign rs2946994, rs3781412, rs142429792, rs3781411, rs3781409, rs3781408, rs3781413, rs112433109, rs3781410, rs12571821, rs185994757, rs73375140, rs201342709, rs7067816, rs3824796
View all (15 more)
RCV003974355
RCV003974377
RCV003904681
RCV003967374
RCV003979660
RCV003984612
RCV003984646
RCV003914199
RCV003916847
RCV003984472
RCV003939871
RCV003942084
RCV003917154
RCV003907302
RCV003914484
RCV003914511
RCV003924534
RCV003937203
RCV003934243
RCV003979112
RCV003981851
RCV003957276
RCV003971734
RCV003976291
RCV003976398
RCV003948320
RCV003950474
RCV003950475
RCV003912829
RCV003933133
EBV-positive nodal T- and NK-cell lymphoma Likely benign rs74769610, rs1554881282 RCV004560212
RCV004560213
Gastric cancer Likely benign rs1554881282 RCV005927736
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Lung Injury Associate 31754335
Adenocarcinoma of Lung Stimulate 32756072
Adenoma Associate 33972635
Alcoholism Associate 28040410
Anorexia Nervosa Associate 27184124
Arrhythmogenic Right Ventricular Dysplasia Associate 29221435
Breast Neoplasms Associate 23393140, 34074001
Carcinogenesis Associate 30151388
Carcinogenesis Inhibit 34878149
Carcinoma Hepatocellular Stimulate 30151388