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

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
Facial palsy, congenital, with ptosis and velopharyngeal dysfunction	Pathogenic	rs1555669248	RCV000513115	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ptosis	Likely pathogenic	rs2510213796	RCV003985580	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (7)

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.
BLEPHAROPTOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPTIC ATROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPTIC ATROPHY 12	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 28	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TUBB6-related disorder	Benign; Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (35)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Blepharoptosis	Ptosis	BEFREE	29016863		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28418032	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma in Situ	Carcinoma in situ	Pubtator	30108103	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35308143	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	29762666	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	CLINVAR_DG	20725928		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	CLINVAR_DG	20725928		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
FACIAL PALSY, CONGENITAL, WITH PTOSIS AND VELOPHARYNGEAL DYSFUNCTION	Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction	UNIPROT_DG	29016863		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Facial paralysis	Facial paralysis	BEFREE	29016863		★★★★★ ★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	39519211	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	CLINVAR_DG	20725928		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hiatal Hernia	Hiatal Hernia	CLINVAR_DG	20725928		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	CLINVAR_DG	20725928		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	CLINVAR_DG	20725928		★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconjunctivitis Sicca	Keratoconjunctivitis Sicca	CLINVAR_DG	20725928		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28418032		★★★★★ ★☆☆☆☆ Found in Text Mining only
Macular degeneration	Macular Degeneration	CLINVAR_DG	20725928		★★★★★ ★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya disease	Pubtator	37962021	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	30535187, 31620435		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	30535187		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrosis Lipoid	Nephrotic syndrome	Pubtator	39519211	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	CLINVAR_DG	20725928		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	30108103	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parotitis	Parotitis	CLINVAR_DG	20725928		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	BEFREE	29016863		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ptosis	Ptosis	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE	Spastic Ataxia	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 28	Spinocerebellar Ataxia	CLINVAR_DG	20725928		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach neoplasms	Pubtator	26330360, 32174791	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	29762666		★★★★★ ★☆☆☆☆ Found in Text Mining only
Velopharyngeal Insufficiency	Velopharyngeal Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Vitamin D Deficiency	Vitamin D Deficiency	CLINVAR_DG	20725928		★★★★★ ★☆☆☆☆ Found in Text Mining only

TUBB6 (tubulin beta 6 class V)