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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	6904
Gene name Gene Name - the full gene name approved by the HGNC.	Tubulin folding cofactor D
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	TBCD
Synonyms (NCBI Gene) Gene synonyms aliases	PEBAT, SSD-1, tfcD
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17q25.3
Summary Summary of gene provided in NCBI Entrez Gene.	Cofactor D 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

Show/Hide all(25)

SNP ID	Visualize variation	Clinical significance	Consequence
rs181969865	C>T	Pathogenic	Missense variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs187081192	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs749225304	G>A,T	Pathogenic	Coding sequence variant, missense variant, intron variant, non coding transcript variant
rs750717767	C>T	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic upstream transcript variant
rs752953575	C>G,T	Likely-pathogenic	5 prime UTR variant, coding sequence variant, stop gained, genic upstream transcript variant, upstream transcript variant, missense variant, non coding transcript variant
rs754750539	C>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant, non coding transcript variant
rs755177846	C>T	Pathogenic	Coding sequence variant, intron variant, missense variant, genic downstream transcript variant, non coding transcript variant
rs760635077	C>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant, non coding transcript variant
rs764085684	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, non coding transcript variant
rs773790897	C>T	Pathogenic, likely-pathogenic	Stop gained, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs775014444	G>A	Pathogenic	5 prime UTR variant, missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs778417127	T>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs780523169	G>A	Likely-pathogenic	Missense variant, intron variant, non coding transcript variant, coding sequence variant
rs886041084	C>G	Pathogenic	Genic upstream transcript variant, intron variant
rs886041085	G>A	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs886041086	T>G	Pathogenic	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs886041087	C>G	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, non coding transcript variant
rs949623707	G>A	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant
rs1311737177	C>T	Likely-pathogenic	Missense variant, non coding transcript variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant
rs1409600874	A>G,T	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, intron variant, coding sequence variant, missense variant
rs1419604407	C>T	Pathogenic	Genic upstream transcript variant, stop gained, non coding transcript variant, coding sequence variant
rs1555641324	C>T	Likely-pathogenic, pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, missense variant, non coding transcript variant
rs1555649346	G>-	Pathogenic	Non coding transcript variant, splice acceptor variant, coding sequence variant
rs1568044300	->TAATA	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, genic downstream transcript variant
rs1599617641	G>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant

Show/Hide all(74)

miRTarBase ID	miRNA	Experiments	Reference
MIRT024063	hsa-miR-1-3p	Proteomics	18668040
MIRT1414080	hsa-miR-1263	CLIP-seq
MIRT1414081	hsa-miR-1297	CLIP-seq
MIRT1414082	hsa-miR-24	CLIP-seq
MIRT1414083	hsa-miR-2467-3p	CLIP-seq
MIRT1414084	hsa-miR-26a	CLIP-seq
MIRT1414085	hsa-miR-26b	CLIP-seq
MIRT1414086	hsa-miR-3135b	CLIP-seq
MIRT1414087	hsa-miR-3155	CLIP-seq
MIRT1414088	hsa-miR-3155b	CLIP-seq
MIRT1414089	hsa-miR-3186-5p	CLIP-seq
MIRT1414090	hsa-miR-3188	CLIP-seq
MIRT1414091	hsa-miR-3612	CLIP-seq
MIRT1414092	hsa-miR-3617	CLIP-seq
MIRT1414093	hsa-miR-3664-3p	CLIP-seq
MIRT1414094	hsa-miR-3692	CLIP-seq
MIRT1414095	hsa-miR-3714	CLIP-seq
MIRT1414096	hsa-miR-3919	CLIP-seq
MIRT1414097	hsa-miR-4443	CLIP-seq
MIRT1414098	hsa-miR-4465	CLIP-seq
MIRT1414099	hsa-miR-4469	CLIP-seq
MIRT1414100	hsa-miR-4476	CLIP-seq
MIRT1414101	hsa-miR-4493	CLIP-seq
MIRT1414102	hsa-miR-4514	CLIP-seq
MIRT1414103	hsa-miR-4645-5p	CLIP-seq
MIRT1414104	hsa-miR-4673	CLIP-seq
MIRT1414105	hsa-miR-4692	CLIP-seq
MIRT1414106	hsa-miR-4733-3p	CLIP-seq
MIRT1414107	hsa-miR-4737	CLIP-seq
MIRT1414108	hsa-miR-4756-3p	CLIP-seq
MIRT1414109	hsa-miR-483-5p	CLIP-seq
MIRT1414110	hsa-miR-484	CLIP-seq
MIRT1414111	hsa-miR-548an	CLIP-seq
MIRT1414112	hsa-miR-599	CLIP-seq
MIRT1414113	hsa-miR-641	CLIP-seq
MIRT1414114	hsa-miR-650	CLIP-seq
MIRT1414115	hsa-miR-873	CLIP-seq
MIRT1414116	hsa-miR-940	CLIP-seq
MIRT2124246	hsa-miR-1226	CLIP-seq
MIRT1414083	hsa-miR-2467-3p	CLIP-seq
MIRT2124247	hsa-miR-3158-5p	CLIP-seq
MIRT2124248	hsa-miR-3184	CLIP-seq
MIRT1414092	hsa-miR-3617	CLIP-seq
MIRT2124249	hsa-miR-3678-3p	CLIP-seq
MIRT2124250	hsa-miR-423-5p	CLIP-seq
MIRT2124251	hsa-miR-4418	CLIP-seq
MIRT1414102	hsa-miR-4514	CLIP-seq
MIRT1414103	hsa-miR-4645-5p	CLIP-seq
MIRT1414104	hsa-miR-4673	CLIP-seq
MIRT1414105	hsa-miR-4692	CLIP-seq
MIRT1414106	hsa-miR-4733-3p	CLIP-seq
MIRT2124252	hsa-miR-4793-3p	CLIP-seq
MIRT2124253	hsa-miR-509-3-5p	CLIP-seq
MIRT2124254	hsa-miR-509-5p	CLIP-seq
MIRT1414113	hsa-miR-641	CLIP-seq
MIRT1414115	hsa-miR-873	CLIP-seq
MIRT1414116	hsa-miR-940	CLIP-seq
MIRT2346549	hsa-miR-1207-3p	CLIP-seq
MIRT1414081	hsa-miR-1297	CLIP-seq
MIRT2346550	hsa-miR-188-3p	CLIP-seq
MIRT2346551	hsa-miR-214	CLIP-seq
MIRT1414084	hsa-miR-26a	CLIP-seq
MIRT1414085	hsa-miR-26b	CLIP-seq
MIRT1414086	hsa-miR-3135b	CLIP-seq
MIRT1414091	hsa-miR-3612	CLIP-seq
MIRT2346552	hsa-miR-3619-5p	CLIP-seq
MIRT1414095	hsa-miR-3714	CLIP-seq
MIRT1414097	hsa-miR-4443	CLIP-seq
MIRT1414098	hsa-miR-4465	CLIP-seq
MIRT1414100	hsa-miR-4476	CLIP-seq
MIRT2346553	hsa-miR-532-3p	CLIP-seq
MIRT1414112	hsa-miR-599	CLIP-seq
MIRT1414114	hsa-miR-650	CLIP-seq
MIRT2346554	hsa-miR-761	CLIP-seq

Show/Hide all(41)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	IBA
GO:0000278	Process	Mitotic cell cycle	IMP	27666370
GO:0005096	Function	GTPase activator activity	IBA
GO:0005096	Function	GTPase activator activity	IDA	20740604
GO:0005096	Function	GTPase activator activity	IEA
GO:0005096	Function	GTPase activator activity	IMP	10831612
GO:0005515	Function	Protein binding	IPI	10831612, 18588884, 21044950, 27666374, 33961781, 35271311
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	27666370
GO:0005813	Component	Centrosome	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	TAS	8706133
GO:0005886	Component	Plasma membrane	IEA
GO:0005912	Component	Adherens junction	IEA
GO:0005923	Component	Bicellular tight junction	IEA
GO:0005923	Component	Bicellular tight junction	ISS
GO:0006457	Process	Protein folding	IBA
GO:0006457	Process	Protein folding	IDA	20740604
GO:0006457	Process	Protein folding	IEA
GO:0006457	Process	Protein folding	TAS	8706133
GO:0007021	Process	Tubulin complex assembly	IDA	28158450
GO:0007021	Process	Tubulin complex assembly	IEA
GO:0007023	Process	Post-chaperonin tubulin folding pathway	IDA	11847227
GO:0007023	Process	Post-chaperonin tubulin folding pathway	IEA
GO:0010812	Process	Negative regulation of cell-substrate adhesion	ISS
GO:0016020	Component	Membrane	IEA
GO:0016328	Component	Lateral plasma membrane	IBA
GO:0016328	Component	Lateral plasma membrane	IEA
GO:0016328	Component	Lateral plasma membrane	ISS
GO:0031115	Process	Negative regulation of microtubule polymerization	IDA	10831612, 20740604
GO:0031115	Process	Negative regulation of microtubule polymerization	IEA
GO:0034333	Process	Adherens junction assembly	IBA
GO:0034333	Process	Adherens junction assembly	ISS
GO:0048487	Function	Beta-tubulin binding	IBA
GO:0048487	Function	Beta-tubulin binding	IDA	10831612
GO:0048487	Function	Beta-tubulin binding	IEA
GO:0048667	Process	Cell morphogenesis involved in neuron differentiation	IMP	27666374
GO:0051087	Function	Protein-folding chaperone binding	TAS	8706133
GO:0070161	Component	Anchoring junction	IEA
GO:0070830	Process	Bicellular tight junction assembly	IBA
GO:0070830	Process	Bicellular tight junction assembly	ISS

MIM	HGNC	e!Ensembl
604649	11581	ENSG00000141556

Protein

UniProt ID

Q9BTW9

Protein name

Tubulin-specific chaperone D (Beta-tubulin cofactor D) (tfcD) (SSD-1) (Tubulin-folding cofactor D)

Protein function

Tubulin-folding protein implicated in the first step of the tubulin folding pathway and required for tubulin complex assembly. Involved in the regulation of microtubule polymerization or depolymerization, it modulates microtubule dynamics by cap

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12612	TFCD_C	900 → 1087	Tubulin folding cofactor D C terminal	Family

Tissue specificity

TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:10231032, ECO:0000269|PubMed:11110777}.

Sequence

MALSDEPAAGGPEEEAEDETLAFGAALEAFGESAETRALLGRLREVHGGGAEREVALERF
RVIMDKYQEQPHLLDPHLEWMMNLLLDIVQDQTSPASLVHLAFKFLYIITKVRGYKTFLR
LFPHEVADVEPVLDLVTIQNPKDHEAWETRYMLLLWLSVTCLIPFDFSRLDGNLLTQPGQ
ARMSIMDRILQIAESYLIVSDKARDAAAVLVSRFITRPDVKQSKMAEFLDWSLCNLARSS
FQTMQGVITMDGTLQALAQIFKHGKREDCLPYAATVLRCLDGCRLPESNQTLLRKLGVKL
VQRLGLTFLKPKVAAWRYQRGCRSLAANLQLLTQGQSEQKPLILTEDDDEDDDVPEGVER
VIEQLLVGLKDKDTVVRWSAAKGIGRMAGRLPRALADDVVGSVLDCFSFQETDKAWHGGC
LALAELGRRGLLLPSRLVDVVAVILKALTYDEKRGACSVGTNVRDAACYVCWAFARAYEP
QELKPFVTAISSALVIAAVFDRDINCRRAASAAFQENVGRQGTFPHGIDILTTADYFAVG
NRSNCFLVISVFIAGFPEYTQPMIDHLVTMKISHWDGVIRELAARALHNLAQQAPEFSAT
QVFPRLLSMTLSPDLHMRHGSILACAEVAYALYKLAAQENRPVTDHLDEQAVQGLKQIHQ
QLYDRQLYRGLGGQLMRQAVCVLIEKLSLSKMPFRGDTVIDGWQWLINDTLRHLHLISSH
SRQQMKDAAVSALAALCSEYYMKEPGEADPAIQEELITQYLAELRNPEEMTRCGFSLALG
ALPGFLLKGRLQQVLTGLRAVTHTSPEDVSFAESRRDGLKAIARICQTVGVKAGAPDEAV
CGENVSQIYCALLGCMDDYTTDSRGDVGTWVRKAAMTSLMDLTLLLARSQPELIEAHTCE
RIMCCVAQQASEKIDRFRAHAASVFLTLLHFDSPPIPHVPHRGELEKLFPRSDVASVNWS
APSQAFPRITQLLGLPTYRYHVLLGLVVSLGGLTESTIRHSTQSLFEYMKGIQSDPQALG
SFSGTLLQIFEDNLLNERVSVPLLKTLDHVLTHGCFDIFTTEEDHPFAVKLLALCKKEIK
NSKDIQKLLSGIAVFCEMVQFPGDVRRQALLQLCLLLCHRFPLIRKTTASQVYETLLTYS
DVVGADVLDEVVTVLSDTAWDAELAVVREQRNRLCDLLGVPRPQLVPQPGAC

Sequence length

1192

Interactions

View interactions

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	rs764085684, rs775014444, rs1555641324, rs1409600874, rs773790897, rs886041084, rs752953575, rs181969865, rs1599617641, rs886041085, rs886041086, rs754750539, rs886041087	N/A

Show/Hide Unknown Diseases (4)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Astrocytoma	Astrocytoma	N/A	N/A	GWAS
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Glioblastoma	Glioblastoma	N/A	N/A	GWAS
Thiel-Behnke Corneal Dystrophy	thiel-behnke corneal dystrophy	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (20)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Afibrinogenemia	Associate	29769041
Agenesis of Corpus Callosum	Associate	37569761
Asthma	Associate	26025128
Atrophy	Associate	27666370, 29769041
Brain Diseases	Associate	27666370, 29769041, 29921875
Cerebellar Diseases	Associate	38003592
Cerebellar Hypoplasia	Associate	38003592
Colorectal Neoplasms	Associate	34311674
Demyelinating Diseases	Associate	27666370
Developmental Disabilities	Associate	27666370
Distal Myopathies	Associate	37569761
Epilepsy	Associate	37569761
Intellectual Disability	Associate	27666370, 37569761
Microcephaly	Associate	27666370
Nakamura Osame syndrome	Associate	27666370
Neurodegenerative Diseases	Associate	27666370, 29769041, 29921875
Optic Atrophy	Associate	27666370
Quadriplegia	Associate	27666370
Seizures	Associate	27666370
Tourette Syndrome	Associate	15303240, 28555406

TBCD (tubulin folding cofactor D)