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 domain similar to NAD+-dependent 2-hydroxyacid dehydrogenases. A portion of the 3' untranslated region was used to map this gene... See more...

Aliases for CTBP2 Gene

Aliases for CTBP2 Gene

  • C-Terminal Binding Protein 2 2 3 5
  • C-Terminal-Binding Protein 2 3 4
  • Ribeye 3
  • CtBP2 4

External Ids for CTBP2 Gene

Previous GeneCards Identifiers for CTBP2 Gene

  • GC10P058330
  • GC10M125880
  • GC10M126717
  • GC10M126251
  • GC10M126666
  • GC10M120363

Summaries for CTBP2 Gene

Entrez Gene Summary for CTBP2 Gene

  • 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 domain similar to NAD+-dependent 2-hydroxyacid dehydrogenases. A portion of the 3' untranslated region was used to map this gene to chromosome 21q21.3; however, it was noted that similar loci elsewhere in the genome are likely. Blast analysis shows that this gene is present on chromosome 10. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2014]

GeneCards Summary for CTBP2 Gene

CTBP2 (C-Terminal Binding Protein 2) is a Protein Coding gene. Diseases associated with CTBP2 include Congenital Stationary Night Blindness and Retinitis Pigmentosa. Among its related pathways are Signaling by Wnt and CDK-mediated phosphorylation and removal of Cdc6. Gene Ontology (GO) annotations related to this gene include chromatin binding and transcription corepressor activity. An important paralog of this gene is CTBP1.

UniProtKB/Swiss-Prot Summary for CTBP2 Gene

  • Corepressor targeting diverse transcription regulators. Functions in brown adipose tissue (BAT) differentiation (By similarity).
  • Isoform 2 probably acts as a scaffold for specialized synapses.

Gene Wiki entry for CTBP2 Gene

Additional gene information for CTBP2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CTBP2 Gene

Genomics for CTBP2 Gene

GeneHancer (GH) Regulatory Elements for CTBP2 Gene

Promoters and enhancers for CTBP2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CTBP2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CTBP2

Top Transcription factor binding sites by QIAGEN in the CTBP2 gene promoter:
  • AP-2alpha
  • AREB6
  • Egr-4
  • IRF-7A
  • Nkx2-5
  • p300

Genomic Locations for CTBP2 Gene

Genomic Locations for CTBP2 Gene
chr10:124,984,317-125,161,170
(GRCh38/hg38)
Size:
176,854 bases
Orientation:
Minus strand
chr10:126,676,418-126,849,739
(GRCh37/hg19)
Size:
173,322 bases
Orientation:
Minus strand

Genomic View for CTBP2 Gene

Genes around CTBP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CTBP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CTBP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CTBP2 Gene

Proteins for CTBP2 Gene

  • Protein details for CTBP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P56545-CTBP2_HUMAN
    Recommended name:
    C-terminal-binding protein 2
    Protein Accession:
    P56545
    Secondary Accessions:
    • A8K2X5
    • D3DRF5
    • O43449
    • Q5SQP7
    • Q69YI3
    • Q86SV0
    • Q8IY44
    • Q9H2T8

    Protein attributes for CTBP2 Gene

    Size:
    445 amino acids
    Molecular mass:
    48945 Da
    Quaternary structure:
    • Can form homodimers or heterodimers of CTBP1 and CTBP2. Interacts with HIPK2 and ZNF217. Interacts with PRDM16; represses white adipose tissue (WAT)-specific genes expression (By similarity). Interacts with PNN, NRIP1 and WIZ. Interacts with MCRIP1 (PubMed:25728771).
    • (Microbial infection) Interacts with human adenovirus 5 E1A protein; this interaction seems to potentiate viral replication.

    Three dimensional structures from OCA and Proteopedia for CTBP2 Gene

    Alternative splice isoforms for CTBP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CTBP2 Gene

Post-translational modifications for CTBP2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for CTBP2 Gene

Domains & Families for CTBP2 Gene

Gene Families for CTBP2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for CTBP2 Gene

Blocks:
  • D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for CTBP2 Gene

GenScript: Design optimal peptide antigens:
  • C-terminal-binding protein 2 (CTBP2_HUMAN)
  • CTBP2 protein (Q8IY44_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P56545

UniProtKB/Swiss-Prot:

CTBP2_HUMAN :
  • Belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family.
Family:
  • Belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family.
genes like me logo Genes that share domains with CTBP2: view

Function for CTBP2 Gene

Molecular function for CTBP2 Gene

UniProtKB/Swiss-Prot Function:
Corepressor targeting diverse transcription regulators. Functions in brown adipose tissue (BAT) differentiation (By similarity).
UniProtKB/Swiss-Prot Function:
Isoform 2 probably acts as a scaffold for specialized synapses.
GENATLAS Biochemistry:
C terminal binding phosphoprotein 2,ubiquitously expressed with 2 higher level in heart,skeletal muscle,pancreas,associating to adenovirus E1A,C terminal proteins,involved with histone deacetylase and E2F3 in transcription repression

Phenotypes From GWAS Catalog for CTBP2 Gene

Gene Ontology (GO) - Molecular Function for CTBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IEA --
GO:0003713 transcription coactivator activity IEA --
GO:0003714 transcription corepressor activity IEA --
GO:0005515 protein binding IPI 16189514
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with CTBP2: view
genes like me logo Genes that share phenotypes with CTBP2: view

Animal Model Products

  • Taconic Biosciences Mouse Models for CTBP2

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for CTBP2 Gene

Localization for CTBP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CTBP2 Gene

Nucleus. Cell junction, synapse.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CTBP2 gene
Compartment Confidence
nucleus 5
cytosol 4
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 2
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CTBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus ISS --
GO:0017053 transcriptional repressor complex ISS --
GO:0030054 cell junction IEA --
GO:0045202 synapse IEA --
GO:0097470 ribbon synapse IEA --
genes like me logo Genes that share ontologies with CTBP2: view

Pathways & Interactions for CTBP2 Gene

genes like me logo Genes that share pathways with CTBP2: view

Pathways by source for CTBP2 Gene

SIGNOR curated interactions for CTBP2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for CTBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008285 negative regulation of cell proliferation TAS 9479502
GO:0016032 viral process IEA --
GO:0016081 synaptic vesicle docking IEA --
GO:0019079 viral genome replication TAS 9479502
GO:0030154 cell differentiation IEA --
genes like me logo Genes that share ontologies with CTBP2: view

Drugs & Compounds for CTBP2 Gene

(2) Drugs for CTBP2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with CTBP2: view

Transcripts for CTBP2 Gene

mRNA/cDNA for CTBP2 Gene

9 REFSEQ mRNAs :
25 NCBI additional mRNA sequence :
14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CTBP2 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12
SP1: -
SP2: -
SP3: -
SP4:
SP5: - - -
SP6: -
SP7:

Relevant External Links for CTBP2 Gene

GeneLoc Exon Structure for
CTBP2

Expression for CTBP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CTBP2 Gene

Protein differential expression in normal tissues from HIPED for CTBP2 Gene

This gene is overexpressed in Retina (20.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CTBP2 Gene



Protein tissue co-expression partners for CTBP2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CTBP2

SOURCE GeneReport for Unigene cluster for CTBP2 Gene:

Hs.501345

mRNA Expression by UniProt/SwissProt for CTBP2 Gene:

P56545-CTBP2_HUMAN
Tissue specificity: Ubiquitous. Highest levels in heart, skeletal muscle, and pancreas.

Evidence on tissue expression from TISSUES for CTBP2 Gene

  • Nervous system(4.7)
  • Intestine(4.5)
  • Kidney(4.5)
  • Pancreas(4.4)
  • Blood(4.3)
  • Liver(4.3)
  • Eye(2.9)
  • Lung(2.7)
  • Muscle(2.6)
  • Skin(2.1)
  • Heart(2)
genes like me logo Genes that share expression patterns with CTBP2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for CTBP2 Gene

Orthologs for CTBP2 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for CTBP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CTBP2 31 30
  • 99.15 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 95 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Ctbp2 17 31 30
  • 84.63 (n)
cow
(Bos Taurus)
Mammalia CTBP2 31 30
  • 84.47 (n)
OneToMany
rat
(Rattus norvegicus)
Mammalia Ctbp2 30
  • 84.29 (n)
dog
(Canis familiaris)
Mammalia LOC100684514 30
  • 75.81 (n)
-- 31
  • 15 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 72 (a)
OneToMany
chicken
(Gallus gallus)
Aves CTBP2 30
  • 85.25 (n)
-- 31
  • 78 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 92 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ctbp2 30
  • 77.69 (n)
zebrafish
(Danio rerio)
Actinopterygii ctbp2l 30
  • 65.02 (n)
CTBP2 31
  • 41 (a)
OneToMany
-- 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003893 30
  • 67.44 (n)
fruit fly
(Drosophila melanogaster)
Insecta CtBP 31 32 30
  • 66.39 (n)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F49E10.5 32
  • 52 (a)
ctbp-1 31
  • 34 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SER33 31
  • 24 (a)
ManyToMany
SER3 31
  • 24 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9232 31
  • 63 (a)
OneToMany
Cin.9285 30
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9285 30
Species where no ortholog for CTBP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CTBP2 Gene

ENSEMBL:
Gene Tree for CTBP2 (if available)
TreeFam:
Gene Tree for CTBP2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CTBP2: view image

Paralogs for CTBP2 Gene

Paralogs for CTBP2 Gene

(1) SIMAP similar genes for CTBP2 Gene using alignment to 3 proteins:

  • CTBP2_HUMAN
  • Q5SQP8_HUMAN
  • Q8IY44_HUMAN
genes like me logo Genes that share paralogs with CTBP2: view

Variants for CTBP2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CTBP2 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
707870 Benign: not provided 125,027,376(-) C/T SYNONYMOUS_VARIANT,INTRON_VARIANT
710607 Benign: not provided 125,026,729(-) C/T MISSENSE_VARIANT,INTRON_VARIANT
722659 Benign: not provided 125,026,522(-) T/G MISSENSE_VARIANT,INTRON_VARIANT
722660 Benign: not provided 125,027,034(-) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT
724682 Likely Benign: not provided 125,027,234(-) CCT/C FRAMESHIFT_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for CTBP2 Gene

Structural Variations from Database of Genomic Variants (DGV) for CTBP2 Gene

Variant ID Type Subtype PubMed ID
dgv519e59 CNV duplication 20981092
dgv51n21 CNV loss 19592680
esv275443 CNV gain+loss 21479260
esv2773 CNV loss 18987735
esv3624823 CNV loss 21293372
esv4147 CNV loss 18987735
esv998825 CNV deletion 20482838
nsv1069088 CNV deletion 25765185
nsv1112598 CNV deletion 24896259
nsv25051 CNV deletion 16902084
nsv478178 CNV novel sequence insertion 20440878
nsv518907 CNV loss 19592680
nsv520770 CNV gain 19592680
nsv552289 CNV loss 21841781
nsv7592 CNV deletion 18451855
nsv7593 CNV insertion 18451855
nsv825606 CNV gain 20364138
nsv825607 CNV gain 20364138
nsv948218 CNV duplication 23825009
nsv948219 CNV duplication 23825009
nsv948220 CNV duplication 23825009
nsv948221 CNV duplication 23825009
nsv951869 CNV deletion 24416366

Variation tolerance for CTBP2 Gene

Residual Variation Intolerance Score: 86.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 28.00; 99.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CTBP2 Gene

Human Gene Mutation Database (HGMD)
CTBP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CTBP2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CTBP2 Gene

Disorders for CTBP2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CTBP2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
congenital stationary night blindness
  • congenital essential nyctalopia
retinitis pigmentosa
  • retinitis pigmentosa 1
- elite association - COSMIC cancer census association via MalaCards
Search CTBP2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CTBP2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CTBP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CTBP2 Gene

Publications for CTBP2 Gene

  1. A novel C-terminal binding protein (CTBP2) is closely related to CTBP1, an adenovirus E1A-binding protein, and maps to human chromosome 21q21.3. (PMID: 9479502) Katsanis N … Fisher EM (Genomics 1998) 2 3 4 23 54
  2. Multiple domains of the Receptor-Interacting Protein 140 contribute to transcription inhibition. (PMID: 15060175) Castet A … Cavaillès V (Nucleic acids research 2004) 3 4 23 54
  3. RIBEYE, a component of synaptic ribbons: a protein's journey through evolution provides insight into synaptic ribbon function. (PMID: 11163272) Schmitz F … Südhof TC (Neuron 2000) 3 4 23 54
  4. MCRIP1, an ERK substrate, mediates ERK-induced gene silencing during epithelial-mesenchymal transition by regulating the co-repressor CtBP. (PMID: 25728771) Ichikawa K … Takekawa M (Molecular cell 2015) 3 4 54
  5. Meta-analysis of genome-wide and replication association studies on prostate cancer. (PMID: 20690139) Liu H … Han C (The Prostate 2011) 3 41 54

Products for CTBP2 Gene

  • Signalway ELISA kits for CTBP2
  • Signalway Proteins for CTBP2

Sources for CTBP2 Gene