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

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; AllianceGenome:HGNC:2495
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: mouse all
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Genomic context

Location:: 10q26.13

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (124984317..125162463, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (125865353..126042062, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (126672886..126849599, complement)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

ZFX-mediated upregulation of CEBPA-AS1 contributes to acute myeloid leukemia progression through miR-24-3p/CTBP2 axis.
Title: ZFX-mediated upregulation of CEBPA-AS1 contributes to acute myeloid leukemia progression through miR-24-3p/CTBP2 axis.
The CTBP2-PCIF1 complex regulates m6Am modification of mRNA in head and neck squamous cell carcinoma.
Title: The CTBP2-PCIF1 complex regulates m6Am modification of mRNA in head and neck squamous cell carcinoma.
Loss of CtBP2 may be a mechanistic link between metabolic derangements and progressive impairment of pancreatic beta cell function.
Title: Loss of CtBP2 may be a mechanistic link between metabolic derangements and progressive impairment of pancreatic β cell function.
Obesity-induced metabolic imbalance allosterically modulates CtBP2 to inhibit PPAR-alpha transcriptional activity.
Title: Obesity-induced metabolic imbalance allosterically modulates CtBP2 to inhibit PPAR-alpha transcriptional activity.
The CRL4[DCAF6] E3 ligase ubiquitinates CtBP1/2 to induce apoptotic signalling and promote intervertebral disc degeneration.
Title: The CRL4(DCAF6) E3 ligase ubiquitinates CtBP1/2 to induce apoptotic signalling and promote intervertebral disc degeneration.
CTBP1 and CTBP2 mutations underpinning neurological disorders: a systematic review.
Title: CTBP1 and CTBP2 mutations underpinning neurological disorders: a systematic review.
Interaction between CASP8AP2 and ZEB2-CtBP2 Regulates the Expression of LEF1.
Title: Interaction between CASP8AP2 and ZEB2-CtBP2 Regulates the Expression of LEF1.
Knockdown of receptor interacting protein 140 (RIP140) alleviated lipopolysaccharide-induced inflammation, apoptosis and permeability in pulmonary microvascular endothelial cells by regulating C-terminal binding protein 2 (CTBP2).
Title: Knockdown of receptor interacting protein 140 (RIP140) alleviated lipopolysaccharide-induced inflammation, apoptosis and permeability in pulmonary microvascular endothelial cells by regulating C-terminal binding protein 2 (CTBP2).
NADH/NAD(+) binding and linked tetrameric assembly of the oncogenic transcription factors CtBP1 and CtBP2.
Title: NADH/NAD(+) binding and linked tetrameric assembly of the oncogenic transcription factors CtBP1 and CtBP2.
Circular RNA circHERC4 as a novel oncogenic driver to promote tumor metastasis via the miR-556-5p/CTBP2/E-cadherin axis in colorectal cancer.
Title: Circular RNA circHERC4 as a novel oncogenic driver to promote tumor metastasis via the miR-556-5p/CTBP2/E-cadherin axis in colorectal cancer.

Submit: New GeneRIF Correction See all GeneRIFs (75)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-W86518 (e-PCR)
- UniSTS:4622

RH121303 (e-PCR)
- UniSTS:138569

D20S789 (e-PCR)
- UniSTS:35150

RH79776 (e-PCR)
- UniSTS:91314

SGC34798 (e-PCR)
- UniSTS:26572

RH36796 (e-PCR)
- UniSTS:90346

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription factor binding	IBA Inferred from Biological aspect of Ancestor more info
enables NAD binding	IEA Inferred from Electronic Annotation more info
enables oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein kinase binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-containing complex binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription coactivator activity	IBA Inferred from Biological aspect of Ancestor more info
enables transcription coregulator binding	IBA Inferred from Biological aspect of Ancestor more info
enables transcription corepressor activity	IBA Inferred from Biological aspect of Ancestor more info
enables transcription corepressor activity	TAS Traceable Author Statement more info	PubMed
enables transcription corepressor binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of cell population proliferation	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within positive regulation of retinoic acid receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in viral genome replication	TAS Traceable Author Statement more info	PubMed
involved_in white fat cell differentiation	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info
located_in synapse	IEA Inferred from Electronic Annotation more info
part_of transcription repressor complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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Preferred Names: C-terminal-binding protein 2

Names: ribeye

NCBI Reference Sequences (RefSeq)

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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)

NM_001083914.3 → NP_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

A8K2X5, D3DRF5, O43449, P56545, Q5SQP7, Q69YI3, Q86SV0, Q8IY44, Q9H2T8

Related

ENSP00000410474.2, ENST00000411419.7

Conserved Domains (1) summary

cd05299
Location:34 → 352

CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor
NM_001290214.3 → NP_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

A8K2X5, D3DRF5, O43449, P56545, Q5SQP7, Q69YI3, Q86SV0, Q8IY44, Q9H2T8

Related

ENSP00000436285.1, ENST00000494626.6

Conserved Domains (1) summary

cd05299
Location:34 → 352

CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor
NM_001290215.3 → NP_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

A8K2X5, D3DRF5, O43449, P56545, Q5SQP7, Q69YI3, Q86SV0, Q8IY44, Q9H2T8

Related

ENSP00000434630.1, ENST00000531469.5

Conserved Domains (1) summary

cd05299
Location:34 → 352

CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor
NM_001321012.2 → NP_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

A8K2X5, D3DRF5, O43449, P56545, Q5SQP7, Q69YI3, Q86SV0, Q8IY44, Q9H2T8

Conserved Domains (1) summary

cd05299
Location:34 → 352

CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor
NM_001321013.2 → NP_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

A8K2X5, D3DRF5, O43449, P56545, Q5SQP7, Q69YI3, Q86SV0, Q8IY44, Q9H2T8

Conserved Domains (1) summary

cd05299
Location:34 → 352

CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor
NM_001321014.2 → NP_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

A8K2X5, D3DRF5, O43449, P56545, Q5SQP7, Q69YI3, Q86SV0, Q8IY44, Q9H2T8

Conserved Domains (1) summary

cd05299
Location:34 → 352

CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor
NM_001329.4 → NP_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

A8K2X5, D3DRF5, O43449, P56545, Q5SQP7, Q69YI3, Q86SV0, Q8IY44, Q9H2T8

Related

ENSP00000338615.5, ENST00000337195.10

Conserved Domains (1) summary

cd05299
Location:34 → 352

CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor
NM_001363508.2 → NP_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:102 → 420

CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor
NM_022802.3 → NP_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:590 → 900

SerA; Phosphoglycerate dehydrogenase or related dehydrogenase [Coenzyme transport and metabolism, General function prediction only]

cd05299
Location:574 → 892

CtBP_dh; C-terminal binding protein (CtBP), D-isomer-specific 2-hydroxyacid dehydrogenases related repressor