Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1487
Gene name	C-terminal binding protein 1
Gene symbol	CTBP1
Synonyms (NCBI Gene)	BARSHADDTS
Chromosome	4
Chromosome location	4p16.3
Summary	This gene encodes a protein that binds to the C-terminus of adenovirus E1A proteins. This phosphoprotein is a transcriptional repressor and may play a role during cellular proliferation. This protein and the product of a second closely related gene, CTBP2

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Show/Hide all (254)

miRTarBase ID	miRNA	Experiments	Reference
MIRT005605	hsa-miR-137	Luciferase reporter assayqRT-PCRWestern blot	21278922
MIRT005605	hsa-miR-137	Luciferase reporter assayqRT-PCRWestern blot	21278922
MIRT005605	hsa-miR-137	Reporter assay;Other	21278922
MIRT024026	hsa-miR-1-3p	Proteomics	18668040
MIRT050145	hsa-miR-26a-5p	CLASH	23622248
MIRT047493	hsa-miR-10b-5p	CLASH	23622248
MIRT036611	hsa-miR-940	CLASH	23622248
MIRT499068	hsa-miR-664a-3p	PAR-CLIP	21572407
MIRT499067	hsa-miR-4289	PAR-CLIP	21572407
MIRT499066	hsa-miR-4324	PAR-CLIP	21572407
MIRT499065	hsa-miR-544b	PAR-CLIP	21572407
MIRT550510	hsa-miR-6758-3p	PAR-CLIP	21572407
MIRT499064	hsa-miR-4251	PAR-CLIP	21572407
MIRT499063	hsa-miR-1253	PAR-CLIP	21572407
MIRT499061	hsa-miR-6770-5p	PAR-CLIP	21572407
MIRT499062	hsa-miR-5189-3p	PAR-CLIP	21572407
MIRT499060	hsa-miR-1200	PAR-CLIP	21572407
MIRT499059	hsa-miR-192-3p	PAR-CLIP	21572407
MIRT499058	hsa-miR-676-3p	PAR-CLIP	21572407
MIRT499057	hsa-miR-4776-3p	PAR-CLIP	21572407
MIRT499056	hsa-miR-2355-3p	PAR-CLIP	21572407
MIRT499068	hsa-miR-664a-3p	PAR-CLIP	24398324
MIRT499067	hsa-miR-4289	PAR-CLIP	24398324
MIRT499066	hsa-miR-4324	PAR-CLIP	24398324
MIRT499065	hsa-miR-544b	PAR-CLIP	24398324
MIRT499064	hsa-miR-4251	PAR-CLIP	24398324
MIRT499063	hsa-miR-1253	PAR-CLIP	24398324
MIRT499061	hsa-miR-6770-5p	PAR-CLIP	24398324
MIRT499062	hsa-miR-5189-3p	PAR-CLIP	24398324
MIRT499060	hsa-miR-1200	PAR-CLIP	24398324
MIRT499059	hsa-miR-192-3p	PAR-CLIP	24398324
MIRT499058	hsa-miR-676-3p	PAR-CLIP	24398324
MIRT499057	hsa-miR-4776-3p	PAR-CLIP	24398324
MIRT499056	hsa-miR-2355-3p	PAR-CLIP	24398324
MIRT499060	hsa-miR-1200	PAR-CLIP	26701625
MIRT499060	hsa-miR-1200	PAR-CLIP	26701625
MIRT499060	hsa-miR-1200	PAR-CLIP	26701625
MIRT499063	hsa-miR-1253	PAR-CLIP	26701625
MIRT499063	hsa-miR-1253	PAR-CLIP	26701625
MIRT499063	hsa-miR-1253	PAR-CLIP	26701625
MIRT499059	hsa-miR-192-3p	PAR-CLIP	26701625
MIRT499059	hsa-miR-192-3p	PAR-CLIP	26701625
MIRT499059	hsa-miR-192-3p	PAR-CLIP	26701625
MIRT499056	hsa-miR-2355-3p	PAR-CLIP	26701625
MIRT499056	hsa-miR-2355-3p	PAR-CLIP	26701625
MIRT499056	hsa-miR-2355-3p	PAR-CLIP	26701625
MIRT499064	hsa-miR-4251	PAR-CLIP	26701625
MIRT499064	hsa-miR-4251	PAR-CLIP	26701625
MIRT499064	hsa-miR-4251	PAR-CLIP	26701625
MIRT499067	hsa-miR-4289	PAR-CLIP	26701625
MIRT499067	hsa-miR-4289	PAR-CLIP	26701625
MIRT499067	hsa-miR-4289	PAR-CLIP	26701625
MIRT499066	hsa-miR-4324	PAR-CLIP	26701625
MIRT499066	hsa-miR-4324	PAR-CLIP	26701625
MIRT499066	hsa-miR-4324	PAR-CLIP	26701625
MIRT499057	hsa-miR-4776-3p	PAR-CLIP	26701625
MIRT499057	hsa-miR-4776-3p	PAR-CLIP	26701625
MIRT499057	hsa-miR-4776-3p	PAR-CLIP	26701625
MIRT499062	hsa-miR-5189-3p	PAR-CLIP	26701625
MIRT499062	hsa-miR-5189-3p	PAR-CLIP	26701625
MIRT499062	hsa-miR-5189-3p	PAR-CLIP	26701625
MIRT499065	hsa-miR-544b	PAR-CLIP	26701625
MIRT499065	hsa-miR-544b	PAR-CLIP	26701625
MIRT499065	hsa-miR-544b	PAR-CLIP	26701625
MIRT499068	hsa-miR-664a-3p	PAR-CLIP	26701625
MIRT499068	hsa-miR-664a-3p	PAR-CLIP	26701625
MIRT499068	hsa-miR-664a-3p	PAR-CLIP	26701625
MIRT550510	hsa-miR-6758-3p	PAR-CLIP	26701625
MIRT550510	hsa-miR-6758-3p	PAR-CLIP	26701625
MIRT550510	hsa-miR-6758-3p	PAR-CLIP	26701625
MIRT499058	hsa-miR-676-3p	PAR-CLIP	26701625
MIRT499058	hsa-miR-676-3p	PAR-CLIP	26701625
MIRT499058	hsa-miR-676-3p	PAR-CLIP	26701625
MIRT499061	hsa-miR-6770-5p	PAR-CLIP	26701625
MIRT499061	hsa-miR-6770-5p	PAR-CLIP	26701625
MIRT499061	hsa-miR-6770-5p	PAR-CLIP	26701625
MIRT499060	hsa-miR-1200	PAR-CLIP	27292025
MIRT499063	hsa-miR-1253	PAR-CLIP	27292025
MIRT499059	hsa-miR-192-3p	PAR-CLIP	27292025
MIRT499056	hsa-miR-2355-3p	PAR-CLIP	27292025
MIRT499064	hsa-miR-4251	PAR-CLIP	27292025
MIRT499067	hsa-miR-4289	PAR-CLIP	27292025
MIRT499066	hsa-miR-4324	PAR-CLIP	27292025
MIRT499057	hsa-miR-4776-3p	PAR-CLIP	27292025
MIRT499062	hsa-miR-5189-3p	PAR-CLIP	27292025
MIRT499065	hsa-miR-544b	PAR-CLIP	27292025
MIRT499068	hsa-miR-664a-3p	PAR-CLIP	27292025
MIRT550510	hsa-miR-6758-3p	PAR-CLIP	27292025
MIRT499058	hsa-miR-676-3p	PAR-CLIP	27292025
MIRT499061	hsa-miR-6770-5p	PAR-CLIP	27292025
MIRT737461	hsa-miR-539-3p	Luciferase reporter assayWestern blottingRNA-seqqRT-PCR	31933979
MIRT499068	hsa-miR-664a-3p	PAR-CLIP	21572407
MIRT499067	hsa-miR-4289	PAR-CLIP	21572407
MIRT499066	hsa-miR-4324	PAR-CLIP	21572407
MIRT499065	hsa-miR-544b	PAR-CLIP	21572407
MIRT550510	hsa-miR-6758-3p	PAR-CLIP	21572407
MIRT499064	hsa-miR-4251	PAR-CLIP	21572407
MIRT499063	hsa-miR-1253	PAR-CLIP	21572407
MIRT499061	hsa-miR-6770-5p	PAR-CLIP	21572407
MIRT499062	hsa-miR-5189-3p	PAR-CLIP	21572407
MIRT499060	hsa-miR-1200	PAR-CLIP	21572407
MIRT499059	hsa-miR-192-3p	PAR-CLIP	21572407
MIRT499058	hsa-miR-676-3p	PAR-CLIP	21572407
MIRT499057	hsa-miR-4776-3p	PAR-CLIP	21572407
MIRT499056	hsa-miR-2355-3p	PAR-CLIP	21572407
MIRT499068	hsa-miR-664a-3p	PAR-CLIP	24398324
MIRT499067	hsa-miR-4289	PAR-CLIP	24398324
MIRT499066	hsa-miR-4324	PAR-CLIP	24398324
MIRT499065	hsa-miR-544b	PAR-CLIP	24398324
MIRT499064	hsa-miR-4251	PAR-CLIP	24398324
MIRT499063	hsa-miR-1253	PAR-CLIP	24398324
MIRT499061	hsa-miR-6770-5p	PAR-CLIP	24398324
MIRT499062	hsa-miR-5189-3p	PAR-CLIP	24398324
MIRT499060	hsa-miR-1200	PAR-CLIP	24398324
MIRT499059	hsa-miR-192-3p	PAR-CLIP	24398324
MIRT499058	hsa-miR-676-3p	PAR-CLIP	24398324
MIRT499057	hsa-miR-4776-3p	PAR-CLIP	24398324
MIRT499056	hsa-miR-2355-3p	PAR-CLIP	24398324
MIRT913742	hsa-miR-4314	CLIP-seq
MIRT913743	hsa-miR-4633-3p	CLIP-seq
MIRT913744	hsa-miR-4667-5p	CLIP-seq
MIRT913745	hsa-miR-4700-5p	CLIP-seq
MIRT913746	hsa-miR-486-3p	CLIP-seq
MIRT913747	hsa-miR-558	CLIP-seq
MIRT913748	hsa-miR-579	CLIP-seq
MIRT913749	hsa-miR-637	CLIP-seq
MIRT913750	hsa-miR-1197	CLIP-seq
MIRT913751	hsa-miR-1281	CLIP-seq
MIRT913752	hsa-miR-184	CLIP-seq
MIRT913753	hsa-miR-1913	CLIP-seq
MIRT913754	hsa-miR-2277-3p	CLIP-seq
MIRT913755	hsa-miR-324-3p	CLIP-seq
MIRT913756	hsa-miR-3660	CLIP-seq
MIRT913757	hsa-miR-3928	CLIP-seq
MIRT913758	hsa-miR-4258	CLIP-seq
MIRT913759	hsa-miR-4313	CLIP-seq
MIRT913742	hsa-miR-4314	CLIP-seq
MIRT913760	hsa-miR-4526	CLIP-seq
MIRT913744	hsa-miR-4667-5p	CLIP-seq
MIRT913761	hsa-miR-4700-3p	CLIP-seq
MIRT913745	hsa-miR-4700-5p	CLIP-seq
MIRT913762	hsa-miR-4738-5p	CLIP-seq
MIRT913746	hsa-miR-486-3p	CLIP-seq
MIRT913749	hsa-miR-637	CLIP-seq
MIRT913763	hsa-miR-664	CLIP-seq
MIRT913764	hsa-miR-676	CLIP-seq
MIRT1556207	hsa-miR-1206	CLIP-seq
MIRT1556208	hsa-miR-606	CLIP-seq
MIRT1970949	hsa-miR-105	CLIP-seq
MIRT913750	hsa-miR-1197	CLIP-seq
MIRT1556207	hsa-miR-1206	CLIP-seq
MIRT1970950	hsa-miR-1285	CLIP-seq
MIRT1970951	hsa-miR-1286	CLIP-seq
MIRT1970952	hsa-miR-140-3p	CLIP-seq
MIRT913752	hsa-miR-184	CLIP-seq
MIRT1970953	hsa-miR-1908	CLIP-seq
MIRT1970954	hsa-miR-205	CLIP-seq
MIRT1970955	hsa-miR-214	CLIP-seq
MIRT913754	hsa-miR-2277-3p	CLIP-seq
MIRT1970956	hsa-miR-2355-5p	CLIP-seq
MIRT1970957	hsa-miR-3187-5p	CLIP-seq
MIRT1970958	hsa-miR-3191	CLIP-seq
MIRT1970959	hsa-miR-339-3p	CLIP-seq
MIRT1970960	hsa-miR-3619-5p	CLIP-seq
MIRT1970961	hsa-miR-3937	CLIP-seq
MIRT1970962	hsa-miR-409-5p	CLIP-seq
MIRT1970963	hsa-miR-4268	CLIP-seq
MIRT1970964	hsa-miR-4291	CLIP-seq
MIRT1970965	hsa-miR-4436a	CLIP-seq
MIRT1970966	hsa-miR-4436b-3p	CLIP-seq
MIRT1970967	hsa-miR-4448	CLIP-seq
MIRT913761	hsa-miR-4700-3p	CLIP-seq
MIRT1970968	hsa-miR-4704-3p	CLIP-seq
MIRT1970969	hsa-miR-4706	CLIP-seq
MIRT1970970	hsa-miR-4715-3p	CLIP-seq
MIRT1970971	hsa-miR-4719	CLIP-seq
MIRT1970972	hsa-miR-4749-5p	CLIP-seq
MIRT1970973	hsa-miR-522	CLIP-seq
MIRT1970974	hsa-miR-548q	CLIP-seq
MIRT913747	hsa-miR-558	CLIP-seq
MIRT913748	hsa-miR-579	CLIP-seq
MIRT1970975	hsa-miR-582-5p	CLIP-seq
MIRT1970976	hsa-miR-612	CLIP-seq
MIRT1970977	hsa-miR-617	CLIP-seq
MIRT1970978	hsa-miR-621	CLIP-seq
MIRT1970979	hsa-miR-653	CLIP-seq
MIRT1970980	hsa-miR-663	CLIP-seq
MIRT1970981	hsa-miR-761	CLIP-seq
MIRT1970982	hsa-miR-885-3p	CLIP-seq
MIRT1970983	hsa-miR-922	CLIP-seq
MIRT1970968	hsa-miR-4704-3p	CLIP-seq
MIRT1970971	hsa-miR-4719	CLIP-seq
MIRT913750	hsa-miR-1197	CLIP-seq
MIRT1970959	hsa-miR-339-3p	CLIP-seq
MIRT1970966	hsa-miR-4436b-3p	CLIP-seq
MIRT1556208	hsa-miR-606	CLIP-seq
MIRT1970977	hsa-miR-617	CLIP-seq
MIRT2447747	hsa-miR-147	CLIP-seq
MIRT2447748	hsa-miR-3688-5p	CLIP-seq
MIRT2447749	hsa-miR-3911	CLIP-seq
MIRT2447750	hsa-miR-644	CLIP-seq
MIRT2447751	hsa-miR-892a	CLIP-seq
MIRT2510045	hsa-miR-1184	CLIP-seq
MIRT2510046	hsa-miR-1205	CLIP-seq
MIRT1556207	hsa-miR-1206	CLIP-seq
MIRT1970950	hsa-miR-1285	CLIP-seq
MIRT2510047	hsa-miR-2052	CLIP-seq
MIRT913754	hsa-miR-2277-3p	CLIP-seq
MIRT1970956	hsa-miR-2355-5p	CLIP-seq
MIRT2510048	hsa-miR-3148	CLIP-seq
MIRT2510049	hsa-miR-3158-5p	CLIP-seq
MIRT1970957	hsa-miR-3187-5p	CLIP-seq
MIRT2510050	hsa-miR-3613-3p	CLIP-seq
MIRT2510051	hsa-miR-3918	CLIP-seq
MIRT2510052	hsa-miR-3940-3p	CLIP-seq
MIRT2510053	hsa-miR-4263	CLIP-seq
MIRT913742	hsa-miR-4314	CLIP-seq
MIRT1970965	hsa-miR-4436a	CLIP-seq
MIRT2510054	hsa-miR-4496	CLIP-seq
MIRT913743	hsa-miR-4633-3p	CLIP-seq
MIRT913744	hsa-miR-4667-5p	CLIP-seq
MIRT2510055	hsa-miR-4685-5p	CLIP-seq
MIRT913745	hsa-miR-4700-5p	CLIP-seq
MIRT1970970	hsa-miR-4715-3p	CLIP-seq
MIRT2510056	hsa-miR-4755-3p	CLIP-seq
MIRT2510057	hsa-miR-4799-5p	CLIP-seq
MIRT913746	hsa-miR-486-3p	CLIP-seq
MIRT913747	hsa-miR-558	CLIP-seq
MIRT2510058	hsa-miR-576-5p	CLIP-seq
MIRT913748	hsa-miR-579	CLIP-seq
MIRT2510059	hsa-miR-593	CLIP-seq
MIRT1970976	hsa-miR-612	CLIP-seq
MIRT913749	hsa-miR-637	CLIP-seq
MIRT1970982	hsa-miR-885-3p	CLIP-seq
MIRT1556207	hsa-miR-1206	CLIP-seq
MIRT1970950	hsa-miR-1285	CLIP-seq
MIRT2510047	hsa-miR-2052	CLIP-seq
MIRT1970956	hsa-miR-2355-5p	CLIP-seq
MIRT2510048	hsa-miR-3148	CLIP-seq
MIRT1970957	hsa-miR-3187-5p	CLIP-seq
MIRT2510050	hsa-miR-3613-3p	CLIP-seq
MIRT913742	hsa-miR-4314	CLIP-seq
MIRT1970965	hsa-miR-4436a	CLIP-seq
MIRT2510054	hsa-miR-4496	CLIP-seq
MIRT913743	hsa-miR-4633-3p	CLIP-seq
MIRT913744	hsa-miR-4667-5p	CLIP-seq
MIRT913745	hsa-miR-4700-5p	CLIP-seq
MIRT1970970	hsa-miR-4715-3p	CLIP-seq
MIRT913746	hsa-miR-486-3p	CLIP-seq
MIRT913747	hsa-miR-558	CLIP-seq
MIRT913748	hsa-miR-579	CLIP-seq
MIRT1970976	hsa-miR-612	CLIP-seq
MIRT913749	hsa-miR-637	CLIP-seq
MIRT1970982	hsa-miR-885-3p	CLIP-seq

Show/Hide all (51)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IMP	19162039, 21102443
GO:0001221	Function	Transcription coregulator binding	IBA
GO:0001222	Function	Transcription corepressor binding	IPI	29628311
GO:0003682	Function	Chromatin binding	IEA
GO:0003713	Function	Transcription coactivator activity	IBA
GO:0003714	Function	Transcription corepressor activity	IBA
GO:0003714	Function	Transcription corepressor activity	IDA	16287852, 19162039
GO:0003714	Function	Transcription corepressor activity	IEA
GO:0005515	Function	Protein binding	IPI	11568182, 12052894, 15897867, 16287852, 16702210, 16762039, 17085477, 19486893, 19505873, 19751731, 20098713, 20211142, 21044950, 21900206, 21903422, 21988832, 23707407, 24722188, 24981860, 25416956, 25728771, 25910212, 26496610, 26871637, 27107012, 27705803, 28514442, 28947780, 310
GO:0005515	Function	Protein binding	TAS	8440238
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	16702210
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006468	Process	Protein phosphorylation	TAS	8440238
GO:0007219	Process	Notch signaling pathway	IEA
GO:0008285	Process	Negative regulation of cell population proliferation	TAS	7479821
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016616	Function	Oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IDA	12419229
GO:0016616	Function	Oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IEA
GO:0017053	Component	Transcription repressor complex	IDA	16287852, 19162039
GO:0017053	Component	Transcription repressor complex	IEA
GO:0017053	Component	Transcription repressor complex	ISS
GO:0019079	Process	Viral genome replication	TAS	7479821
GO:0019904	Function	Protein domain specific binding	IDA	19162039
GO:0019904	Function	Protein domain specific binding	IPI	18374649
GO:0030154	Process	Cell differentiation	IEA
GO:0042802	Function	Identical protein binding	IPI	21988832, 24722188, 25416956, 27107012, 31041561, 31515488
GO:0045892	Process	Negative regulation of DNA-templated transcription	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0048488	Process	Synaptic vesicle endocytosis	IEA
GO:0050872	Process	White fat cell differentiation	IEA
GO:0050872	Process	White fat cell differentiation	ISS
GO:0051287	Function	NAD binding	IDA	12419229
GO:0051287	Function	NAD binding	IEA
GO:0051287	Function	NAD binding	ISS
GO:0051726	Process	Regulation of cell cycle	IMP	21102443
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IEA
GO:0097091	Process	Synaptic vesicle clustering	IEA
GO:0098831	Component	Presynaptic active zone cytoplasmic component	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0098982	Component	GABA-ergic synapse	IEA
GO:0106222	Function	LncRNA binding	IEA
GO:0140297	Function	DNA-binding transcription factor binding	IBA
GO:0140297	Function	DNA-binding transcription factor binding	IPI	16609867, 19162039

MIM	HGNC	e!Ensembl
602618	2494	ENSG00000159692

Q13363

Protein name

C-terminal-binding protein 1 (CtBP1) (EC 1.1.1.-)

Protein function

Corepressor targeting diverse transcription regulators such as GLIS2 or BCL6. Has dehydrogenase activity. Involved in controlling the equilibrium between tubular and stacked structures in the Golgi complex. Functions in brown adipose tissue (BAT

PDB

1MX3 , 4LCE , 4U6Q , 4U6S , 6CDF , 6CDR , 6V89 , 6V8A , 7KWM , 8ARI

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00389	2-Hacid_dh	30 → 352	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain	Domain
PF02826	2-Hacid_dh_C	133 → 317	D-isomer specific 2-hydroxyacid dehydrogenase, NAD binding domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in germinal center B-cells. {ECO:0000269|PubMed:18212045}.

Sequence

MGSSHLLNKGLPLGVRPPIMNGPLHPRPLVALLDGRDCTVEMPILKDVATVAFCDAQSTQ
EIHEKVLNEAVGALMYHTITLTREDLEKFKALRIIVRIGSGFDNIDIKSAGDLGIAVCNV
PAASVEETADSTLCHILNLYRRATWLHQALREGTRVQSVEQIREVASGAARIRGETLGII
GLGRVGQAVALRAKAFGFNVLFYDPYLSDGVERALGLQRVSTLQDLLFHSDCVTLHCGLN
EHNHHLINDFTVKQMRQGAFLVNTARGGLVDEKALAQALKEGRIRGAALDVHESEPFSFS
QGPLKDAPNLICTPHAAWYSEQASIEMREEAAREIRRAITGRIPDSLKNCVNKDHLTAAT
HWASMDPAVVHPELNGAAYRYPPGVVGVAPTGIPAAVEGIVPSAMSLSHGLPPVAHPPHA
PSPGQTVKPEADRDHASDQL

Sequence length

440

Interactions

View interactions

	KEGG		Reactome
	Wnt signaling pathway Notch signaling pathway Pathways in cancer Chronic myeloid leukemia		Deactivation of the beta-catenin transactivating complex SUMOylation of transcription cofactors Repression of WNT target genes TCF7L2 mutants don't bind CTBP

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome	Pathogenic	rs869320802	RCV000595812	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic	rs1731781760	RCV001261374	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
4p partial monosomy syndrome	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CTBP1-related disorder	Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WOLF-HIRSCHHORN SYNDROME	—	CTD, Disgenet, HPO, Orphanet CTD, Disgenet, HPO, Orphanet CTD, Disgenet, HPO, Orphanet CTD, Disgenet, HPO, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (114)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Absence of septum pellucidum	Absence Of Septum Pellucidum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	31059077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	19450512		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	17028196		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	24280726		★★★★★ ★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	40302267	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	31041561, 36610307	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	31340205		★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20964627, 21681822, 23385593, 26337822, 26933806, 27409664, 29568399, 30423315, 31534138		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	20964627, 21681822, 30423315, 31534138	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	19450512		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	24440974, 31860631	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	18098271	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	31036695		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	20383323	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	17028196		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	17028196		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	17028196		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	20383323	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital ectopic pupil	Congenital anomaly of eye	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital fusion of ribs	Rib fusion	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	36610307	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	32293505	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	26818947		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31151520		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	29262396		★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	29262396	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	32293505	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	34586741	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	23303816, 24469828		★★★★★ ★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	23303816, 24469828		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	31041561		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	31041561	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	31041561		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	27160109, 27699603		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	27094857		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	24440974	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	27562971		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	32293505	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME	Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	UNIPROT_DG	27094857		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME	Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	GENOMICS_ENGLAND_DG	29291004, 31041561		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME	Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypoxia	Hypoxia	Pubtator	16840720	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	27562971		★★★★★ ★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	27562971		★★★★★ ★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	31041561		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	31041561	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Invasive Ductal Breast Carcinoma	Invasive Duct and Lobular Carcinoma	BEFREE	21681822		★★★★★ ★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	31041561	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23756565, 27113935		★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31059077, 35039872	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	20964627, 21681822, 23385593, 26337822, 26933806, 27409664, 29568399, 30423315, 31534138		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	31036695		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	23097625, 24842953, 25115393, 29025958, 29536528, 30152543, 30931931		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	27983935, 31308691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12414815, 26871283, 28576945, 30013629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	20964627, 26933806		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	12384563, 19216735, 21278922, 23303449		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	19216735		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	19216735, 21278922, 23303449, 23318885, 31338875	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	39294274	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	24842953, 26933806, 29536528, 29568399, 30152543, 30931931		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	23097625		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	27094857, 28955726, 7479821		★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	LHGDN	15705784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16508011, 20818429, 20964627, 21278922, 23097625, 23343772, 24842953, 26933806, 27409664, 29568399, 30152543, 30356033, 31059077, 31308691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	30262996, 31074088, 31337976		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	30262996, 31337976	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	31036695		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	32332713, 34887384, 37633920	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	32711584	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	35039872, 36397058	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	38273351	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pitt-Rogers-Danks Syndrome	Pitt-Rogers-Danks Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	25552498, 35656892, 39702404	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	39294274	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	23097625, 24842953, 25115393, 29025958, 29536528, 30152543, 30931931		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	23097625, 24842953, 30931931		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	32059012	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Edema	Pulmonary edema	Pubtator	20869266	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Radioulnar Synostosis	Radioulnar Synostosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rieger eye malformation sequence	Axenfeld anomaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rieger syndrome	Rieger syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	29179949	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	20818429, 35098409	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stenosis of external auditory canal	Stenosis Of External Auditory Canal	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	27983935, 31308691		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	27983935	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Wolf-Hirschhorn Syndrome	Wolf-Hirschhorn Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

CTBP1 (C-terminal binding protein 1)