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CTBP2 C-terminal binding protein 2 [ Homo sapiens (human) ]

Gene ID: 1488, updated on 3-May-2020

Summary

Official Symbol
CTBP2provided by HGNC
Official Full Name
C-terminal binding protein 2provided by HGNC
Primary source
HGNC:HGNC:2495
See related
Ensembl:ENSG00000175029 MIM:602619
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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 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]
Expression
Ubiquitous expression in thyroid (RPKM 13.6), endometrium (RPKM 9.4) and 24 other tissues See more
Orthologs

Genomic context

See CTBP2 in Genome Data Viewer
Location:
10q26.13
Exon count:
20
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 10 NC_000010.11 (124984317..125161039, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 10 NC_000010.10 (126676418..126849624, complement)

Chromosome 10 - NC_000010.11Genomic Context describing neighboring genes Neighboring gene abraxas 2, BRISC complex subunit Neighboring gene uncharacterized LOC107984160 Neighboring gene nucleophosmin 1 pseudogene 31 Neighboring gene zinc finger RANBP2-type containing 1 Neighboring gene microRNA 4296 Neighboring gene mitochondrial ribosomal protein S21 pseudogene 6 Neighboring gene VISTA enhancer hs330

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
NHGRI GWA Catalog
Multiple loci identified in a genome-wide association study of prostate cancer.
NHGRI GWA Catalog
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NAD binding IEA
Inferred from Electronic Annotation
more info
 
chromatin binding IEA
Inferred from Electronic Annotation
more info
 
oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein kinase binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein-containing complex binding IPI
Inferred from Physical Interaction
more info
PubMed 
retinoic acid receptor binding IEA
Inferred from Electronic Annotation
more info
 
structural constituent of presynaptic active zone IEA
Inferred from Electronic Annotation
more info
 
transcription coactivator activity IEA
Inferred from Electronic Annotation
more info
 
transcription corepressor activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cellular response to leukemia inhibitory factor IEA
Inferred from Electronic Annotation
more info
 
maintenance of presynaptic active zone structure IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell proliferation TAS
Traceable Author Statement
more info
PubMed 
negative regulation of transcription, DNA-templated ISS
Inferred from Sequence or Structural Similarity
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
positive regulation of chromatin binding IEA
Inferred from Electronic Annotation
more info
 
positive regulation of retinoic acid receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
synaptic vesicle docking IEA
Inferred from Electronic Annotation
more info
 
viral genome replication TAS
Traceable Author Statement
more info
PubMed 
white fat cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
GABA-ergic synapse IEA
Inferred from Electronic Annotation
more info
 
glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
photoreceptor ribbon synapse IEA
Inferred from Electronic Annotation
more info
 
presynaptic active zone cytoplasmic component IEA
Inferred from Electronic Annotation
more info
 
presynaptic cytosol IEA
Inferred from Electronic Annotation
more info
 
transcriptional repressor complex ISS
Inferred from Sequence or Structural Similarity
more info
 

General protein information

Preferred Names
C-terminal-binding protein 2
Names
ribeye

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001083914.3NP_001077383.1  C-terminal-binding protein 2 isoform 1

    See identical proteins and their annotated locations for NP_001077383.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains a distinct 5' UTR and 5' CDS, compared to variant 2. Variants 1, 3, 4, and 5-8 all encode the same isoform (1), which has a distinct N-terminus that is 540 aa shorter than the N-terminus of isoform 2. The protein is thought to bind to the C-terminus of the adenovirus E1A proteins. Studies in mice suggest that this protein is involved in transcriptional repression.
    Source sequence(s)
    AL731571, BC047018, DB456766
    Consensus CDS
    CCDS7643.1
    UniProtKB/Swiss-Prot
    P56545
    Related
    ENSP00000410474.2, ENST00000411419.6
    Conserved Domains (1) summary
    cd05299
    Location:34352
    CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor
  2. NM_001290214.3NP_001277143.1  C-terminal-binding protein 2 isoform 1

    See identical proteins and their annotated locations for NP_001277143.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) contains a distinct 5' UTR and 5' CDS, compared to variant 2. Variants 1, 3, 4, and 5-8 all encode the same isoform (1), which has a distinct N-terminus that is 540 aa shorter than the N-terminus of isoform 2. The protein is thought to bind to the C-terminus of the adenovirus E1A proteins. Studies in mice suggest that this protein is involved in transcriptional repression.
    Source sequence(s)
    AL157888, AL731571, BC052276, BM712328
    Consensus CDS
    CCDS7643.1
    UniProtKB/Swiss-Prot
    P56545
    Related
    ENSP00000436285.1, ENST00000494626.6
    Conserved Domains (1) summary
    cd05299
    Location:34352
    CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor
  3. NM_001290215.3NP_001277144.1  C-terminal-binding protein 2 isoform 1

    See identical proteins and their annotated locations for NP_001277144.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) contains a distinct 5' UTR and 5' CDS, compared to variant 2. Variants 1, 3, 4, and 5-8 all encode the same isoform (1), which has a distinct N-terminus that is 540 aa shorter than the N-terminus of isoform 2. The protein is thought to bind to the C-terminus of the adenovirus E1A proteins. Studies in mice suggest that this protein is involved in transcriptional repression.
    Source sequence(s)
    AK290390, AL731571, HY147073
    Consensus CDS
    CCDS7643.1
    UniProtKB/Swiss-Prot
    P56545
    Related
    ENSP00000434630.1, ENST00000531469.5
    Conserved Domains (1) summary
    cd05299
    Location:34352
    CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor
  4. NM_001321012.2NP_001307941.1  C-terminal-binding protein 2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL731571, BE671217, CX165167, DB200827
    Consensus CDS
    CCDS7643.1
    UniProtKB/Swiss-Prot
    P56545
    Conserved Domains (1) summary
    cd05299
    Location:34352
    CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor
  5. NM_001321013.2NP_001307942.1  C-terminal-binding protein 2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL731571, BE671217, BM800106, HY046871
    Consensus CDS
    CCDS7643.1
    UniProtKB/Swiss-Prot
    P56545
    Conserved Domains (1) summary
    cd05299
    Location:34352
    CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor
  6. NM_001321014.2NP_001307943.1  C-terminal-binding protein 2 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AL731571, BE671217, CV029885, DB197732, HY048696, HY147073
    Consensus CDS
    CCDS7643.1
    UniProtKB/Swiss-Prot
    P56545
    Conserved Domains (1) summary
    cd05299
    Location:34352
    CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor
  7. NM_001329.4NP_001320.1  C-terminal-binding protein 2 isoform 1

    See identical proteins and their annotated locations for NP_001320.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) contains a distinct 5' UTR and 5' CDS, compared to variant 2. Variants 1, 3, 4, and 5-8 all encode the same isoform (1), which has a distinct N-terminus that is 540 aa shorter than the N-terminus of isoform 2. The protein is thought to bind to the C-terminus of the adenovirus E1A proteins. Studies in mice suggest that this protein is involved in transcriptional repression.
    Source sequence(s)
    AL157888, AL731571, AL833398, BM712328
    Consensus CDS
    CCDS7643.1
    UniProtKB/Swiss-Prot
    P56545
    Related
    ENSP00000338615.5, ENST00000337195.9
    Conserved Domains (1) summary
    cd05299
    Location:34352
    CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor
  8. NM_001363508.2NP_001350437.1  C-terminal-binding protein 2 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AL731571
    Consensus CDS
    CCDS86154.1
    Related
    ENSP00000357816.5, ENST00000334808.10
    Conserved Domains (1) summary
    cd05299
    Location:102420
    CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor
  9. NM_022802.3NP_073713.2  C-terminal-binding protein 2 isoform 2

    See identical proteins and their annotated locations for NP_073713.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longest transcript and encodes the longer isoform (2). This protein localizes to synaptic ribbons, synapses used for fast tonic neurotransmitter release in a subset of specialized neurons.
    Source sequence(s)
    AF222711, AL731571, AL833398
    Consensus CDS
    CCDS7644.1
    UniProtKB/Swiss-Prot
    P56545
    Related
    ENSP00000311825.6, ENST00000309035.11
    Conserved Domains (2) summary
    COG0111
    Location:590900
    SerA; Phosphoglycerate dehydrogenase or related dehydrogenase [Coenzyme transport and metabolism, General function prediction only]
    cd05299
    Location:574892
    CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000010.11 Reference GRCh38.p13 Primary Assembly

    Range
    124984317..125161039 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005269572.4XP_005269629.1  C-terminal-binding protein 2 isoform X2

    See identical proteins and their annotated locations for XP_005269629.1

    UniProtKB/Swiss-Prot
    P56545
    Conserved Domains (1) summary
    cd05299
    Location:34352
    CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor
  2. XM_005269568.5XP_005269625.1  C-terminal-binding protein 2 isoform X2

    See identical proteins and their annotated locations for XP_005269625.1

    UniProtKB/Swiss-Prot
    P56545
    Conserved Domains (1) summary
    cd05299
    Location:34352
    CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor
  3. XM_005269569.3XP_005269626.1  C-terminal-binding protein 2 isoform X2

    See identical proteins and their annotated locations for XP_005269626.1

    UniProtKB/Swiss-Prot
    P56545
    Conserved Domains (1) summary
    cd05299
    Location:34352
    CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor
  4. XM_011539357.2XP_011537659.1  C-terminal-binding protein 2 isoform X3

    See identical proteins and their annotated locations for XP_011537659.1

    Conserved Domains (1) summary
    cd05299
    Location:9327
    CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor
  5. XM_005269561.3XP_005269618.1  C-terminal-binding protein 2 isoform X2

    See identical proteins and their annotated locations for XP_005269618.1

    UniProtKB/Swiss-Prot
    P56545
    Conserved Domains (1) summary
    cd05299
    Location:34352
    CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor
  6. XM_011539353.2XP_011537655.1  C-terminal-binding protein 2 isoform X2

    See identical proteins and their annotated locations for XP_011537655.1

    UniProtKB/Swiss-Prot
    P56545
    Conserved Domains (1) summary
    cd05299
    Location:34352
    CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor
  7. XM_006717642.3XP_006717705.1  C-terminal-binding protein 2 isoform X2

    See identical proteins and their annotated locations for XP_006717705.1

    UniProtKB/Swiss-Prot
    P56545
    Conserved Domains (1) summary
    cd05299
    Location:34352
    CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor
  8. XM_011539351.2XP_011537653.1  C-terminal-binding protein 2 isoform X2

    See identical proteins and their annotated locations for XP_011537653.1

    UniProtKB/Swiss-Prot
    P56545
    Conserved Domains (1) summary
    cd05299
    Location:34352
    CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor
  9. XM_011539354.2XP_011537656.1  C-terminal-binding protein 2 isoform X2

    See identical proteins and their annotated locations for XP_011537656.1

    UniProtKB/Swiss-Prot
    P56545
    Conserved Domains (1) summary
    cd05299
    Location:34352
    CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor
  10. XM_024447831.1XP_024303599.1  C-terminal-binding protein 2 isoform X3

    Conserved Domains (1) summary
    cd05299
    Location:9327
    CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor
  11. XM_017015756.2XP_016871245.1  C-terminal-binding protein 2 isoform X2

    UniProtKB/Swiss-Prot
    P56545
    Conserved Domains (1) summary
    cd05299
    Location:34352
    CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor
  12. XM_024447830.1XP_024303598.1  C-terminal-binding protein 2 isoform X2

    Conserved Domains (1) summary
    cd05299
    Location:34352
    CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor
  13. XM_005269571.3XP_005269628.1  C-terminal-binding protein 2 isoform X2

    See identical proteins and their annotated locations for XP_005269628.1

    UniProtKB/Swiss-Prot
    P56545
    Conserved Domains (1) summary
    cd05299
    Location:34352
    CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor
  14. XM_005269564.3XP_005269621.1  C-terminal-binding protein 2 isoform X2

    See identical proteins and their annotated locations for XP_005269621.1

    UniProtKB/Swiss-Prot
    P56545
    Conserved Domains (1) summary
    cd05299
    Location:34352
    CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor
  15. XM_011539358.2XP_011537660.1  C-terminal-binding protein 2 isoform X3

    See identical proteins and their annotated locations for XP_011537660.1

    Conserved Domains (1) summary
    cd05299
    Location:9327
    CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor
  16. XM_005269567.3XP_005269624.1  C-terminal-binding protein 2 isoform X2

    See identical proteins and their annotated locations for XP_005269624.1

    UniProtKB/Swiss-Prot
    P56545
    Conserved Domains (1) summary
    cd05299
    Location:34352
    CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor
  17. XM_011539355.2XP_011537657.1  C-terminal-binding protein 2 isoform X2

    See identical proteins and their annotated locations for XP_011537657.1

    UniProtKB/Swiss-Prot
    P56545
    Conserved Domains (1) summary
    cd05299
    Location:34352
    CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor
  18. XM_017015757.2XP_016871246.1  C-terminal-binding protein 2 isoform X2

    UniProtKB/Swiss-Prot
    P56545
    Conserved Domains (1) summary
    cd05299
    Location:34352
    CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor
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