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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	84617
Gene name	Tubulin beta 6 class V
Gene symbol	TUBB6
Synonyms (NCBI Gene)	FPVEPDHsT1601TUBB-5
Chromosome	18
Chromosome location	18p11.21

Show/Hide all (1)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1555669248	T>C	Pathogenic	Intron variant, missense variant, coding sequence variant

100

Show/Hide all (100)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004884	hsa-miR-124-3p	Microarray	15685193
MIRT040720	hsa-miR-92b-3p	CLASH	23622248
MIRT1463398	hsa-miR-124	CLIP-seq
MIRT1463399	hsa-miR-3155	CLIP-seq
MIRT1463400	hsa-miR-3155b	CLIP-seq
MIRT1463401	hsa-miR-3714	CLIP-seq
MIRT1463402	hsa-miR-3910	CLIP-seq
MIRT1463403	hsa-miR-4666-5p	CLIP-seq
MIRT1463404	hsa-miR-4719	CLIP-seq
MIRT1463405	hsa-miR-484	CLIP-seq
MIRT1463406	hsa-miR-506	CLIP-seq
MIRT1463407	hsa-miR-604	CLIP-seq
MIRT1463408	hsa-miR-647	CLIP-seq
MIRT1463409	hsa-miR-758	CLIP-seq
MIRT1557233	hsa-miR-3612	CLIP-seq
MIRT1557234	hsa-miR-4266	CLIP-seq
MIRT1557235	hsa-miR-4695-5p	CLIP-seq
MIRT1557236	hsa-miR-4733-3p	CLIP-seq
MIRT1557237	hsa-miR-4779	CLIP-seq
MIRT1557238	hsa-miR-650	CLIP-seq
MIRT2139309	hsa-miR-1252	CLIP-seq
MIRT2139310	hsa-miR-148a	CLIP-seq
MIRT2139311	hsa-miR-148b	CLIP-seq
MIRT2139312	hsa-miR-152	CLIP-seq
MIRT2139313	hsa-miR-1825	CLIP-seq
MIRT2139314	hsa-miR-3127-5p	CLIP-seq
MIRT1557233	hsa-miR-3612	CLIP-seq
MIRT2139315	hsa-miR-3613-5p	CLIP-seq
MIRT2139316	hsa-miR-3918	CLIP-seq
MIRT1557234	hsa-miR-4266	CLIP-seq
MIRT1557235	hsa-miR-4695-5p	CLIP-seq
MIRT1557236	hsa-miR-4733-3p	CLIP-seq
MIRT1557237	hsa-miR-4779	CLIP-seq
MIRT1557238	hsa-miR-650	CLIP-seq
MIRT2139317	hsa-miR-767-5p	CLIP-seq
MIRT2360068	hsa-miR-1294	CLIP-seq
MIRT2360069	hsa-miR-217	CLIP-seq
MIRT2139314	hsa-miR-3127-5p	CLIP-seq
MIRT2360070	hsa-miR-3184	CLIP-seq
MIRT2139316	hsa-miR-3918	CLIP-seq
MIRT2360071	hsa-miR-3973	CLIP-seq
MIRT2360072	hsa-miR-423-5p	CLIP-seq
MIRT2360073	hsa-miR-4316	CLIP-seq
MIRT2360074	hsa-miR-4418	CLIP-seq
MIRT2360075	hsa-miR-509-3-5p	CLIP-seq
MIRT2360076	hsa-miR-509-5p	CLIP-seq
MIRT2360077	hsa-miR-520g	CLIP-seq
MIRT2360078	hsa-miR-520h	CLIP-seq
MIRT2360079	hsa-miR-607	CLIP-seq
MIRT1463409	hsa-miR-758	CLIP-seq
MIRT2139309	hsa-miR-1252	CLIP-seq
MIRT2139310	hsa-miR-148a	CLIP-seq
MIRT2139311	hsa-miR-148b	CLIP-seq
MIRT2139312	hsa-miR-152	CLIP-seq
MIRT2139313	hsa-miR-1825	CLIP-seq
MIRT2653315	hsa-miR-219-1-3p	CLIP-seq
MIRT2139314	hsa-miR-3127-5p	CLIP-seq
MIRT2653316	hsa-miR-3180	CLIP-seq
MIRT2653317	hsa-miR-3180-3p	CLIP-seq
MIRT2653318	hsa-miR-3196	CLIP-seq
MIRT2653319	hsa-miR-3200-5p	CLIP-seq
MIRT1557233	hsa-miR-3612	CLIP-seq
MIRT2139315	hsa-miR-3613-5p	CLIP-seq
MIRT2139316	hsa-miR-3918	CLIP-seq
MIRT2653320	hsa-miR-4259	CLIP-seq
MIRT2653321	hsa-miR-4260	CLIP-seq
MIRT1557234	hsa-miR-4266	CLIP-seq
MIRT2653322	hsa-miR-4661-3p	CLIP-seq
MIRT2653323	hsa-miR-4682	CLIP-seq
MIRT1557235	hsa-miR-4695-5p	CLIP-seq
MIRT1557236	hsa-miR-4733-3p	CLIP-seq
MIRT1557237	hsa-miR-4779	CLIP-seq
MIRT2653324	hsa-miR-571	CLIP-seq
MIRT1557238	hsa-miR-650	CLIP-seq
MIRT2139317	hsa-miR-767-5p	CLIP-seq
MIRT2139309	hsa-miR-1252	CLIP-seq
MIRT2139310	hsa-miR-148a	CLIP-seq
MIRT2139311	hsa-miR-148b	CLIP-seq
MIRT2139312	hsa-miR-152	CLIP-seq
MIRT2139313	hsa-miR-1825	CLIP-seq
MIRT2653315	hsa-miR-219-1-3p	CLIP-seq
MIRT2139314	hsa-miR-3127-5p	CLIP-seq
MIRT2653316	hsa-miR-3180	CLIP-seq
MIRT2653317	hsa-miR-3180-3p	CLIP-seq
MIRT2653318	hsa-miR-3196	CLIP-seq
MIRT2653319	hsa-miR-3200-5p	CLIP-seq
MIRT1557233	hsa-miR-3612	CLIP-seq
MIRT2139315	hsa-miR-3613-5p	CLIP-seq
MIRT2139316	hsa-miR-3918	CLIP-seq
MIRT2653320	hsa-miR-4259	CLIP-seq
MIRT2653321	hsa-miR-4260	CLIP-seq
MIRT1557234	hsa-miR-4266	CLIP-seq
MIRT2653322	hsa-miR-4661-3p	CLIP-seq
MIRT2653323	hsa-miR-4682	CLIP-seq
MIRT1557235	hsa-miR-4695-5p	CLIP-seq
MIRT1557236	hsa-miR-4733-3p	CLIP-seq
MIRT1557237	hsa-miR-4779	CLIP-seq
MIRT2653324	hsa-miR-571	CLIP-seq
MIRT1557238	hsa-miR-650	CLIP-seq
MIRT2139317	hsa-miR-767-5p	CLIP-seq

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000226	Process	Microtubule cytoskeleton organization	IBA
GO:0000278	Process	Mitotic cell cycle	IBA
GO:0003924	Function	GTPase activity	IEA
GO:0005200	Function	Structural constituent of cytoskeleton	IBA
GO:0005200	Function	Structural constituent of cytoskeleton	IEA
GO:0005515	Function	Protein binding	IPI	24275654, 31046837, 32814053
GO:0005525	Function	GTP binding	IBA
GO:0005525	Function	GTP binding	IEA
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IBA
GO:0005874	Component	Microtubule	IDA	21525035
GO:0005874	Component	Microtubule	IEA
GO:0007017	Process	Microtubule-based process	IEA
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0045171	Component	Intercellular bridge	IDA
GO:0045171	Component	Intercellular bridge	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0072686	Component	Mitotic spindle	IDA
GO:0072686	Component	Mitotic spindle	IEA

MIM	HGNC	e!Ensembl
615103	20776	ENSG00000176014

Q9BUF5

Protein name

Tubulin beta-6 chain (Tubulin beta class V)

Protein function

Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule en

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00091	Tubulin	3 → 212	Tubulin/FtsZ family, GTPase domain	Domain
PF03953	Tubulin_C	261 → 383	Tubulin C-terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Ubiquitous. Maximal expression in breast and lung, where it represents around 10% of all beta-tubulins. Largely decreased expression in most cancerous tissues. {ECO:0000269|PubMed:20191564}.

Sequence

MREIVHIQAGQCGNQIGTKFWEVISDEHGIDPAGGYVGDSALQLERINVYYNESSSQKYV
PRAALVDLEPGTMDSVRSGPFGQLFRPDNFIFGQTGAGNNWAKGHYTEGAELVDAVLDVV
RKECEHCDCLQGFQLTHSLGGGTGSGMGTLLISKIREEFPDRIMNTFSVMPSPKVSDTVV
EPYNATLSVHQLVENTDETYCIDNEALYDICFRTLKLTTPTYGDLNHLVSATMSGVTTSL
RFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTSRGSQQYRALTVPELTQQMFDARNMM
AACDPRHGRYLTVATVFRGPMSMKEVDEQMLAIQSKNSSYFVEWIPNNVKVAVCDIPPRG
LKMASTFIGNSTAIQELFKRISEQFSAMFRRKAFLHWFTGEGMDEMEFTEAESNMNDLVS
EYQQYQDATANDGEEAFEDEEEEIDG

Sequence length

446

Interactions

View interactions

	KEGG		Reactome
	Phagosome Gap junction Motor proteins Alzheimer disease Parkinson disease Amyotrophic lateral sclerosis Huntington disease Prion disease Pathways of neurodegeneration - multiple diseases Pathogenic Escherichia coli infection Salmonella infection		Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane MHC class II antigen presentation Separation of Sister Chromatids Resolution of Sister Chromatid Cohesion HSP90 chaperone cycle for steroid hormone receptors (SHR) Recruitment of NuMA to mitotic centrosomes Recycling pathway of L1 Hedgehog 'off' state Cilium Assembly Intraflagellar transport RHO GTPases activate IQGAPs RHO GTPases Activate Formins COPI-mediated anterograde transport COPI-dependent Golgi-to-ER retrograde traffic COPI-independent Golgi-to-ER retrograde traffic Mitotic Prometaphase The role of GTSE1 in G2/M progression after G2 checkpoint Carboxyterminal post-translational modifications of tubulin HCMV Early Events Aggrephagy EML4 and NUDC in mitotic spindle formation Sealing of the nuclear envelope (NE) by ESCRT-III Kinesins

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Facial palsy, congenital, with ptosis and velopharyngeal dysfunction	Pathogenic	rs1555669248	RCV000513115
Ptosis	Likely pathogenic	rs2510213796	RCV003985580

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
TUBB6-related disorder	Benign; Uncertain significance; Likely benign	rs11267036, rs2510213055, rs138139116, rs148645230, rs367986182, rs117971030	RCV003973363 RCV003397716 RCV003921905 RCV003964016 RCV003949496 RCV003956748

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Carcinoma Hepatocellular	Associate	28418032
Carcinoma in Situ	Associate	30108103
Carcinoma Non Small Cell Lung	Associate	33934493
Carcinoma Renal Cell	Associate	35308143
Colitis Ulcerative	Associate	29762666
Dysplastic Nevus Syndrome	Associate	29762666
Glomerulosclerosis Focal Segmental	Associate	39519211
Inflammation	Associate	37962021
Moyamoya Disease	Associate	37962021
Neoplasms	Associate	24618686, 29298171
Nephrosis Lipoid	Associate	39519211
Neurologic Manifestations	Associate	24618686
Ovarian Neoplasms	Associate	30108103
Retinal Dysplasia	Associate	29762666
Stomach Neoplasms	Associate	26330360, 32174791

TUBB6 (tubulin beta 6 class V)