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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	6903
Gene name	Tubulin folding cofactor C
Gene symbol	TBCC
Synonyms (NCBI Gene)	CFC
Chromosome	6
Chromosome location	6p21.1
Summary	Cofactor C is one of four proteins (cofactors A, D, E, and C) involved in the pathway leading to correctly folded beta-tubulin from folding intermediates. Cofactors A and D are believed to play a role in capturing and stabilizing beta-tubulin intermediate

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Show/Hide all (164)

miRTarBase ID	miRNA	Experiments	Reference
MIRT048814	hsa-miR-93-5p	CLASH	23622248
MIRT037213	hsa-miR-877-5p	CLASH	23622248
MIRT1413962	hsa-miR-1202	CLIP-seq
MIRT1413963	hsa-miR-1251	CLIP-seq
MIRT1413964	hsa-miR-1275	CLIP-seq
MIRT1413965	hsa-miR-184	CLIP-seq
MIRT1413966	hsa-miR-216b	CLIP-seq
MIRT1413967	hsa-miR-217	CLIP-seq
MIRT1413968	hsa-miR-2278	CLIP-seq
MIRT1413969	hsa-miR-28-5p	CLIP-seq
MIRT1413970	hsa-miR-3122	CLIP-seq
MIRT1413971	hsa-miR-3139	CLIP-seq
MIRT1413972	hsa-miR-3158-5p	CLIP-seq
MIRT1413973	hsa-miR-3165	CLIP-seq
MIRT1413974	hsa-miR-3166	CLIP-seq
MIRT1413975	hsa-miR-3191	CLIP-seq
MIRT1413976	hsa-miR-3194-5p	CLIP-seq
MIRT1413977	hsa-miR-3614-3p	CLIP-seq
MIRT1413978	hsa-miR-3622a-3p	CLIP-seq
MIRT1413979	hsa-miR-3622b-3p	CLIP-seq
MIRT1413980	hsa-miR-365	CLIP-seq
MIRT1413981	hsa-miR-3656	CLIP-seq
MIRT1413982	hsa-miR-3662	CLIP-seq
MIRT1413983	hsa-miR-3675-3p	CLIP-seq
MIRT1413984	hsa-miR-3687	CLIP-seq
MIRT1413985	hsa-miR-3913-5p	CLIP-seq
MIRT1413986	hsa-miR-3940-3p	CLIP-seq
MIRT1413987	hsa-miR-3972	CLIP-seq
MIRT1413988	hsa-miR-4264	CLIP-seq
MIRT1413989	hsa-miR-4418	CLIP-seq
MIRT1413990	hsa-miR-4432	CLIP-seq
MIRT1413991	hsa-miR-4433	CLIP-seq
MIRT1413992	hsa-miR-4442	CLIP-seq
MIRT1413993	hsa-miR-4459	CLIP-seq
MIRT1413994	hsa-miR-4525	CLIP-seq
MIRT1413995	hsa-miR-4665-5p	CLIP-seq
MIRT1413996	hsa-miR-4684-5p	CLIP-seq
MIRT1413997	hsa-miR-4699-3p	CLIP-seq
MIRT1413998	hsa-miR-4723-5p	CLIP-seq
MIRT1413999	hsa-miR-4731-5p	CLIP-seq
MIRT1414000	hsa-miR-4738-5p	CLIP-seq
MIRT1414001	hsa-miR-4747-5p	CLIP-seq
MIRT1414002	hsa-miR-4768-3p	CLIP-seq
MIRT1414003	hsa-miR-4771	CLIP-seq
MIRT1414004	hsa-miR-4783-5p	CLIP-seq
MIRT1414005	hsa-miR-4795-3p	CLIP-seq
MIRT1414006	hsa-miR-491-3p	CLIP-seq
MIRT1414007	hsa-miR-499-5p	CLIP-seq
MIRT1414008	hsa-miR-501-3p	CLIP-seq
MIRT1414009	hsa-miR-502-3p	CLIP-seq
MIRT1414010	hsa-miR-509-3-5p	CLIP-seq
MIRT1414011	hsa-miR-509-5p	CLIP-seq
MIRT1414012	hsa-miR-544b	CLIP-seq
MIRT1414013	hsa-miR-548c-3p	CLIP-seq
MIRT1414014	hsa-miR-625	CLIP-seq
MIRT1414015	hsa-miR-637	CLIP-seq
MIRT1414016	hsa-miR-708	CLIP-seq
MIRT1414017	hsa-miR-885-5p	CLIP-seq
MIRT1413964	hsa-miR-1275	CLIP-seq
MIRT2124219	hsa-miR-1297	CLIP-seq
MIRT2124220	hsa-miR-26a	CLIP-seq
MIRT2124221	hsa-miR-26b	CLIP-seq
MIRT2124222	hsa-miR-3144-3p	CLIP-seq
MIRT1413975	hsa-miR-3191	CLIP-seq
MIRT2124223	hsa-miR-330-3p	CLIP-seq
MIRT2124224	hsa-miR-34b	CLIP-seq
MIRT2124225	hsa-miR-3591-5p	CLIP-seq
MIRT2124226	hsa-miR-3620	CLIP-seq
MIRT2124227	hsa-miR-3667-3p	CLIP-seq
MIRT2124228	hsa-miR-3679-3p	CLIP-seq
MIRT2124229	hsa-miR-3936	CLIP-seq
MIRT2124230	hsa-miR-3942-5p	CLIP-seq
MIRT2124231	hsa-miR-3978	CLIP-seq
MIRT2124232	hsa-miR-4255	CLIP-seq
MIRT1413988	hsa-miR-4264	CLIP-seq
MIRT1413990	hsa-miR-4432	CLIP-seq
MIRT2124233	hsa-miR-4465	CLIP-seq
MIRT2124234	hsa-miR-4504	CLIP-seq
MIRT1413994	hsa-miR-4525	CLIP-seq
MIRT1413995	hsa-miR-4665-5p	CLIP-seq
MIRT2124235	hsa-miR-4667-3p	CLIP-seq
MIRT1413996	hsa-miR-4684-5p	CLIP-seq
MIRT2124236	hsa-miR-4703-5p	CLIP-seq
MIRT2124237	hsa-miR-4716-3p	CLIP-seq
MIRT2124238	hsa-miR-4719	CLIP-seq
MIRT1413998	hsa-miR-4723-5p	CLIP-seq
MIRT1413999	hsa-miR-4731-5p	CLIP-seq
MIRT1414000	hsa-miR-4738-5p	CLIP-seq
MIRT1414004	hsa-miR-4783-5p	CLIP-seq
MIRT2124239	hsa-miR-498	CLIP-seq
MIRT1414007	hsa-miR-499-5p	CLIP-seq
MIRT2124240	hsa-miR-520d-5p	CLIP-seq
MIRT2124241	hsa-miR-524-5p	CLIP-seq
MIRT2124242	hsa-miR-542-3p	CLIP-seq
MIRT1414013	hsa-miR-548c-3p	CLIP-seq
MIRT2124243	hsa-miR-548l	CLIP-seq
MIRT2124244	hsa-miR-622	CLIP-seq
MIRT1414014	hsa-miR-625	CLIP-seq
MIRT1414015	hsa-miR-637	CLIP-seq
MIRT2124245	hsa-miR-875-5p	CLIP-seq
MIRT1414017	hsa-miR-885-5p	CLIP-seq
MIRT1413962	hsa-miR-1202	CLIP-seq
MIRT1413963	hsa-miR-1251	CLIP-seq
MIRT2346541	hsa-miR-128	CLIP-seq
MIRT1413966	hsa-miR-216b	CLIP-seq
MIRT2346542	hsa-miR-300	CLIP-seq
MIRT1413970	hsa-miR-3122	CLIP-seq
MIRT2346543	hsa-miR-3153	CLIP-seq
MIRT1413973	hsa-miR-3165	CLIP-seq
MIRT1413976	hsa-miR-3194-5p	CLIP-seq
MIRT1413977	hsa-miR-3614-3p	CLIP-seq
MIRT1413978	hsa-miR-3622a-3p	CLIP-seq
MIRT1413979	hsa-miR-3622b-3p	CLIP-seq
MIRT1413981	hsa-miR-3656	CLIP-seq
MIRT1413982	hsa-miR-3662	CLIP-seq
MIRT1413983	hsa-miR-3675-3p	CLIP-seq
MIRT2346544	hsa-miR-381	CLIP-seq
MIRT1413985	hsa-miR-3913-5p	CLIP-seq
MIRT1413987	hsa-miR-3972	CLIP-seq
MIRT2346545	hsa-miR-4302	CLIP-seq
MIRT1413991	hsa-miR-4433	CLIP-seq
MIRT1413993	hsa-miR-4459	CLIP-seq
MIRT2124234	hsa-miR-4504	CLIP-seq
MIRT2346546	hsa-miR-4672	CLIP-seq
MIRT1413996	hsa-miR-4684-5p	CLIP-seq
MIRT2346547	hsa-miR-4728-3p	CLIP-seq
MIRT1414001	hsa-miR-4747-5p	CLIP-seq
MIRT1414002	hsa-miR-4768-3p	CLIP-seq
MIRT2124242	hsa-miR-542-3p	CLIP-seq
MIRT1414012	hsa-miR-544b	CLIP-seq
MIRT1414013	hsa-miR-548c-3p	CLIP-seq
MIRT2124243	hsa-miR-548l	CLIP-seq
MIRT2346548	hsa-miR-570	CLIP-seq
MIRT1414017	hsa-miR-885-5p	CLIP-seq
MIRT1413965	hsa-miR-184	CLIP-seq
MIRT1413968	hsa-miR-2278	CLIP-seq
MIRT1413984	hsa-miR-3687	CLIP-seq
MIRT1413986	hsa-miR-3940-3p	CLIP-seq
MIRT1413991	hsa-miR-4433	CLIP-seq
MIRT1413992	hsa-miR-4442	CLIP-seq
MIRT1413996	hsa-miR-4684-5p	CLIP-seq
MIRT2346542	hsa-miR-300	CLIP-seq
MIRT2346544	hsa-miR-381	CLIP-seq
MIRT1413996	hsa-miR-4684-5p	CLIP-seq
MIRT1414013	hsa-miR-548c-3p	CLIP-seq
MIRT2346542	hsa-miR-300	CLIP-seq
MIRT2346543	hsa-miR-3153	CLIP-seq
MIRT2346544	hsa-miR-381	CLIP-seq
MIRT2124229	hsa-miR-3936	CLIP-seq
MIRT2124231	hsa-miR-3978	CLIP-seq
MIRT1413996	hsa-miR-4684-5p	CLIP-seq
MIRT2124237	hsa-miR-4716-3p	CLIP-seq
MIRT1414013	hsa-miR-548c-3p	CLIP-seq
MIRT2124243	hsa-miR-548l	CLIP-seq
MIRT1414014	hsa-miR-625	CLIP-seq
MIRT2346542	hsa-miR-300	CLIP-seq
MIRT2346543	hsa-miR-3153	CLIP-seq
MIRT2346544	hsa-miR-381	CLIP-seq
MIRT2124229	hsa-miR-3936	CLIP-seq
MIRT2124231	hsa-miR-3978	CLIP-seq
MIRT1413996	hsa-miR-4684-5p	CLIP-seq
MIRT2124237	hsa-miR-4716-3p	CLIP-seq
MIRT1414013	hsa-miR-548c-3p	CLIP-seq
MIRT1414014	hsa-miR-625	CLIP-seq

Show/Hide all (19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003924	Function	GTPase activity	IDA	11847227
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	12417528
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005856	Component	Cytoskeleton	TAS	8706133
GO:0005874	Component	Microtubule	TAS	8706133
GO:0006457	Process	Protein folding	IBA
GO:0006457	Process	Protein folding	TAS	8706133
GO:0007021	Process	Tubulin complex assembly	IBA
GO:0007023	Process	Post-chaperonin tubulin folding pathway	IDA	11847227
GO:0007023	Process	Post-chaperonin tubulin folding pathway	IEA
GO:0007023	Process	Post-chaperonin tubulin folding pathway	TAS	8706133
GO:0015631	Function	Tubulin binding	IEA
GO:0032391	Component	Photoreceptor connecting cilium	IDA	12417528
GO:0051087	Function	Protein-folding chaperone binding	TAS	8706133

MIM	HGNC	e!Ensembl
602971	11580	ENSG00000124659

Q15814

Protein name

Tubulin-specific chaperone C (Tubulin-folding cofactor C) (CFC)

Protein function

Tubulin-folding protein; involved in the final step of the tubulin folding pathway.

PDB

2L3L , 2YUH

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16752	TBCC_N	27 → 135	Tubulin-specific chaperone C N-terminal domain	Domain
PF07986	TBCC	203 → 321	Tubulin binding cofactor C	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in the retina. Expressed in the rod and cone photoreceptors, extending from the inner segments (IS), through the outer nuclear layer (ONL) and into the synapses in the outer plexiform layer (OPL). Strongly expressed to the ph

Sequence

MESVSCSAAAVRTGDMESQRDLSLVPERLQRREQERQLEVERRKQKRQNQEVEKENSHFF
VATFVRERAAVEELLERAESVERLEEAASRLQGLQKLINDSVFFLAAYDLRQGQEALARL
QAALAERRRGLQPKKRFAFKTRGKDAASSTKVDAAPGIPPAVESIQDSPLPKKAEGDLGP
SWVCGFSNLESQVLEKRASELHQRDVLLTELSNCTVRLYGNPNTLRLTKAHSCKLLCGPV
STSVFLEDCSDCVLAVACQQLRIHSTKDTRIFLQVTSRAIVEDCSGIQFAPYTWSYPEID
KDFESSGLDRSKNNWNDVDDFNWLARDMASPNWSILPEEERNIQWD

Sequence length

346

Interactions

View interactions

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 Unknown Diseases (2)

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.
BIPOLAR DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STROKE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (10)

Disease Name	Disease (Merged)	Source	PMID	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Breast Carcinoma	Breast Carcinoma	BEFREE	14584041	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital heart disease	Congenital Heart Disease	BEFREE	17072672	★★★★★ ★☆☆☆☆ Found in Text Mining only
Costello syndrome (disorder)	Costello syndrome	BEFREE	26494162	★★★★★ ★☆☆☆☆ Found in Text Mining only
Forebrain Defects	Forebrain Defects	BEFREE	12073012	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperemia	Hyperemia	BEFREE	29605243	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	16489085, 16688229	★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	19414193	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	2004017	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28098905, 31278033	★★★★★ ★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	17509057	★★★★★ ★☆☆☆☆ Found in Text Mining only

TBCC (tubulin folding cofactor C)