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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	84617
Gene name Gene Name - the full gene name approved by the HGNC.	Tubulin beta 6 class V
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	TUBB6
Synonyms (NCBI Gene) Gene synonyms aliases	FPVEPD, HsT1601, TUBB-5
Disease Acronyms (UniProt) Disease acronyms from UniProt database	FPVEPD
Chromosome Chromosome number	18
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	18p11.21

Show/Hide all(1)

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

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(12)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	IBA	21873635
GO:0000278	Process	Mitotic cell cycle	IBA	21873635
GO:0003674	Function	Molecular_function	ND
GO:0003924	Function	GTPase activity	IEA
GO:0005200	Function	Structural constituent of cytoskeleton	IBA	21873635
GO:0005515	Function	Protein binding	IPI	24275654, 31046837, 32814053
GO:0005525	Function	GTP binding	IBA	21873635
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005874	Component	Microtubule	IBA	21873635
GO:0005874	Component	Microtubule	IDA	21525035
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145

MIM	HGNC	e!Ensembl
615103	20776	ENSG00000176014

Protein

UniProt ID

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 (6)

Disease term	Disease name	dbSNP ID	References
Causal
Coronary artery disease	Coronary Artery Disease	rs137852988, rs121918313, rs121918529, rs121918531, rs137852340, rs1555800701, rs1215189537	20725928
Facial palsy, congenital, with ptosis and velopharyngeal dysfunction	FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION	rs1555669248	29016863
Hypercalcemia	Hypercalcemia	rs876657376, rs387907322, rs777676129, rs387907323, rs114368325, rs6068812, rs387907324, rs777947329, rs201304511, rs769409705, rs200095793, rs876661338, rs1554095500, rs139763321, rs774432244, rs781367354 View all (1 more)	20725928
Hypertension	Hypertensive disease	rs13306026	20725928
Spastic ataxia	SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE	rs72555372, rs74315473, rs281865117, rs281865118, rs137853016, rs2137634136, rs137853017, rs606231163, rs137853018, rs137853019, rs2137724246, rs2137716138, rs267606900, rs387906889, rs281865120 View all (280 more)
Spinocerebellar ataxia	SPINOCEREBELLAR ATAXIA 28	rs80356538, rs80356539, rs56144125, rs28937887, rs80356544, rs80356540, rs80356542, rs1941485201, rs121918306, rs151344520, rs151344519, rs151344521, rs151344523, rs151344512, rs193922926 View all (203 more)	20725928

Show/Hide Unknown Diseases (3)

Disease term	Disease name	References	Source
Unknown
Macular degeneration	Macular degeneration	20725928	ClinVar
Ptosis	Blepharoptosis, Ptosis		ClinVar
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction	facial palsy, congenital, with ptosis and velopharyngeal dysfunction		GenCC

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text Mining
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)