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Aliases for CTBP2 Gene

Aliases for CTBP2 Gene

  • C-Terminal Binding Protein 2 2 3 5
  • C-Terminal-Binding Protein 2 3
  • 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 Retinitis Pigmentosa 14 and Deafness, Autosomal Recessive 9. Among its related pathways are Chronic myeloid leukemia and Mesodermal Commitment Pathway. 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 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 , fRNAdb sequence ontologies and piRNA Summary for CTBP2 Gene

Genomics for CTBP2 Gene

GeneHancer (GH) Regulatory Elements for CTBP2 Gene

Promoters and enhancers for CTBP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10I125146 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 556.6 +6.7 6674 16.9 PKNOX1 ATF1 FOXA2 SIN3A FEZF1 YY1 GLIS2 DEK ZNF202 SP3 CTBP2 EDRF1 EDRF1-AS1 ENSG00000282787 MIR4296
GH10I125822 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 19 -662.6 -662593 3.2 HDGF PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B UROS BCCIP EDRF1-AS1 CTBP2 ENSG00000277371
GH10I125894 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.3 -735.0 -735047 2.8 ARID4B SIN3A DMAP1 YY1 ZNF263 SP3 SP5 MXD4 REST ZNF662 FANK1 DHX32 EDRF1 EDRF1-AS1 CTBP2 BCCIP MMP21 RNU2-42P GC10M125891
GH10I124790 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 10.8 +369.3 369297 2.6 CLOCK FOXA2 SMAD1 MLX ARID4B SIN3A DMAP1 ZBTB7B YY1 POLR2B EEF1AKMT2 ENSG00000258539 EDRF1-AS1 EDRF1 CTBP2 ENSG00000234134 MMP21
GH10I125900 Enhancer 1 ENCODE dbSUPER 19.7 -741.3 -741308 4.2 INSM2 NEUROD1 KLF17 PLRG1 SCRT2 FOS ZEB2 ZNF592 ZNF217 IKZF1 UROS EDRF1-AS1 CTBP2 EDRF1 FANK1 DHX32 GNG10P1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CTBP2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CTBP2 gene promoter:

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)

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:
    • Interacts with the C-terminus of adenovirus E1A protein. 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 human adenovirus 5 E1A protein; this interaction seems to potentiate viral replication (PubMed:23747199). Interacts with MCRIP1 (PubMed:25728771).

    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

No Post-translational modifications

No data available for DME Specific Peptides for CTBP2 Gene

Domains & Families for CTBP2 Gene

Gene Families for CTBP2 Gene

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

Suggested Antigen Peptide Sequences for CTBP2 Gene

GenScript: Design optimal peptide antigens:

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

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
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.

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 IBA --
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

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 5
cytoskeleton 2
plasma membrane 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:0005829 cytosol IBA --
GO:0017053 transcriptional repressor complex ISS --
GO:0030054 cell junction IEA --
GO:0045202 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

Gene Ontology (GO) - Biological Process for CTBP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0008152 metabolic process IEA --
GO:0008285 negative regulation of cell proliferation TAS 9479502
GO:0016032 viral process IEA --
genes like me logo Genes that share ontologies with CTBP2: view

No data available for SIGNOR curated interactions for CTBP2 Gene

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

Unigene Clusters for CTBP2 Gene

C-terminal binding protein 2:
Representative Sequences:

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
ECgene alternative splicing isoforms for
CTBP2

Expression for CTBP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for CTBP2 Gene



Protein tissue co-expression partners for CTBP2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CTBP2 Gene:

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 33 34
  • 99.15 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 95 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Ctbp2 33 16 34
  • 84.63 (n)
cow
(Bos Taurus)
Mammalia CTBP2 33 34
  • 84.47 (n)
rat
(Rattus norvegicus)
Mammalia Ctbp2 33
  • 84.29 (n)
dog
(Canis familiaris)
Mammalia LOC100684514 33
  • 75.81 (n)
-- 34
  • 15 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 72 (a)
OneToMany
chicken
(Gallus gallus)
Aves CTBP2 33
  • 85.25 (n)
-- 34
  • 78 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 92 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ctbp2 33
  • 77.69 (n)
zebrafish
(Danio rerio)
Actinopterygii ctbp2l 33
  • 65.02 (n)
CTBP2 34
  • 41 (a)
OneToMany
-- 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003893 33
  • 67.44 (n)
fruit fly
(Drosophila melanogaster)
Insecta CtBP 35 33 34
  • 66.39 (n)
worm
(Caenorhabditis elegans)
Secernentea F49E10.5 35
  • 52 (a)
ctbp-1 34
  • 34 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SER3 34
  • 24 (a)
ManyToMany
SER33 34
  • 24 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9232 34
  • 63 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9285 33
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)

Paralogs for CTBP2 Gene

Paralogs for CTBP2 Gene

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

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

Variants for CTBP2 Gene

Sequence variations from dbSNP and Humsavar for CTBP2 Gene

SNP ID Clin Chr 10 pos Variation AA Info Type
rs1000038151 -- 125,057,465(-) G/C genic_upstream_transcript_variant, intron_variant
rs1000093476 -- 125,109,331(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000099236 -- 125,024,687(-) C/T genic_upstream_transcript_variant, intron_variant
rs1000103745 -- 124,993,841(-) G/A intron_variant
rs1000115541 -- 125,161,364(-) C/T upstream_transcript_variant

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

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

Disorders for CTBP2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for CTBP2 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
retinitis pigmentosa 14
  • rp14
deafness, autosomal recessive 9
  • dfnb9
congenital stationary night blindness
  • congenital essential nyctalopia
- 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 22 58
  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 22 58
  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 22 58
  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 58
  5. Meta-analysis of genome-wide and replication association studies on prostate cancer. (PMID: 20690139) Liu H … Han C (The Prostate 2011) 3 44 58

Products for CTBP2 Gene

Sources for CTBP2 Gene

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