TUBA8 (tubulin alpha 8)

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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 51807
• Gene name: Tubulin alpha 8
• Gene symbol: TUBA8
• Synonyms (NCBI Gene): CDCBM8, MACTHC2, TUBAL2
• Chromosome: 22
• Chromosome location: 22q11.21
• Summary: This gene encodes a member of the alpha tubulin protein family. Alpha tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene are associated with polymicrogyria

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs2234333	A>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs138073466	A>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs878853254	GTTGCTTCCCTCTC>-	Pathogenic	Intron variant

miRNA Show/Hide all (30)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018195	hsa-miR-335-5p	Microarray	18185580
MIRT019370	hsa-miR-148b-3p	Microarray	17612493
MIRT1463010	hsa-miR-124	CLIP-seq
MIRT1463011	hsa-miR-1343	CLIP-seq
MIRT1463012	hsa-miR-3714	CLIP-seq
MIRT1463013	hsa-miR-3910	CLIP-seq
MIRT1463014	hsa-miR-506	CLIP-seq
MIRT1463015	hsa-miR-555	CLIP-seq
MIRT1463016	hsa-miR-940	CLIP-seq
MIRT2360015	hsa-miR-1184	CLIP-seq
MIRT2360016	hsa-miR-1587	CLIP-seq
MIRT2360017	hsa-miR-320a	CLIP-seq
MIRT2360018	hsa-miR-320b	CLIP-seq
MIRT2360019	hsa-miR-320c	CLIP-seq
MIRT2360020	hsa-miR-320d	CLIP-seq
MIRT2360021	hsa-miR-3591-5p	CLIP-seq
MIRT2360022	hsa-miR-3606	CLIP-seq
MIRT2360023	hsa-miR-3659	CLIP-seq
MIRT2360024	hsa-miR-378g	CLIP-seq
MIRT2360025	hsa-miR-4255	CLIP-seq
MIRT2360026	hsa-miR-4429	CLIP-seq
MIRT2360027	hsa-miR-4492	CLIP-seq
MIRT2360028	hsa-miR-4498	CLIP-seq
MIRT2360029	hsa-miR-4656	CLIP-seq
MIRT2360030	hsa-miR-4675	CLIP-seq
MIRT2360031	hsa-miR-4738-3p	CLIP-seq
MIRT2360032	hsa-miR-4741	CLIP-seq
MIRT2360033	hsa-miR-642b	CLIP-seq
MIRT2360034	hsa-miR-762	CLIP-seq
MIRT2360035	hsa-miR-921	CLIP-seq

Gene ontology (GO) Show/Hide all (22)

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:0001669	Component	Acrosomal vesicle	IEA
GO:0005200	Function	Structural constituent of cytoskeleton	IBA
GO:0005200	Function	Structural constituent of cytoskeleton	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005525	Function	GTP binding	IBA
GO:0005525	Function	GTP binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IBA
GO:0005874	Component	Microtubule	IEA
GO:0007017	Process	Microtubule-based process	IEA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007286	Process	Spermatid development	IEA
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0015630	Component	Microtubule cytoskeleton	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 605742
• HGNC: 12410
• e!Ensembl: ENSG00000183785

Protein

• UniProt ID: Q9NY65
• Protein name: Tubulin alpha-8 chain (EC 3.6.5.-) (Alpha-tubulin 8) (Tubulin alpha chain-like 2) [Cleaved into: Dephenylalaninated tubulin alpha-8 chain]
• 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 → 214	Tubulin/FtsZ family, GTPase domain	Domain
  PF03953	Tubulin_C	263 → 393	Tubulin C-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Preferentially expressed in heart, skeletal muscle and testis. Expressed at low levels in the developing brain. Expressed in megakaryocytes and platelets (PubMed:34704371). {ECO:0000269|PubMed:20466094, ECO:0000269|PubMed:34704371}.
• Sequence:

  MRECISVHVGQAGVQIGNACWELFCLEHGIQADGTFDAQASKINDDDSFTTFFSETGNGK
  HVPRAVMIDLEPTVVDEVRAGTYRQLFHPEQLITGKEDAANNYARGHYTVGKESIDLVLD
  RIRKLTDACSGLQGFLIFHSFGGGTGSGFTSLLMERLSLDYGKKSKLEFAIYPAPQVSTA
  VVEPYNSILTTHTTLEHSDCAFMVDNEAIYDICRRNLDIERPTYTNLNRLISQIVSSITA
  SLRFDGALNVDLTEFQTNLVPYPRIHFPLVTYAPIISAEKAYHEQLSVAEITSSCFEPNS
  QMVKCDPRHGKYMACCMLYRGDVVPKDVNVAIAAIKTKRTIQFVDWCPTGFKVGINYQPP
  TVVPGGDLAKVQRAVCMLSNTTAIAEAWARLDHKFDLMYAKRAFVHWYVGEGMEEGEFSE
  AREDLAALEKDYEEVGTDSFEEENEGEEF

• Sequence length: 449

Pathways

KEGG Pathway	Reactome Pathway
Phagosome	Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane
Apoptosis	MHC class II antigen presentation
Tight junction	Separation of Sister Chromatids
Gap junction	Resolution of Sister Chromatid Cohesion
Motor proteins	HSP90 chaperone cycle for steroid hormone receptors (SHR)
Alzheimer disease	Recruitment of NuMA to mitotic centrosomes
Parkinson disease	Recycling pathway of L1
Amyotrophic lateral sclerosis	Cilium Assembly
Huntington disease	RHO GTPases activate IQGAPs
Prion disease	RHO GTPases Activate Formins
Pathways of neurodegeneration - multiple diseases	COPI-mediated anterograde transport
Pathogenic Escherichia coli infection	COPI-dependent Golgi-to-ER retrograde traffic
Salmonella infection	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

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Macrothrombocytopenia, isolated, 2, autosomal dominant	Pathogenic	rs2123699789	RCV002248333	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (8)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
ATRIAL FIBRILLATION	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	29892015, 29892015, 30061737, 30061737, 34594039, 35872910, 36653681, 39024449, 39537608, 40050429, 40645996	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FLUTTER	—	GWAS catalog	39024449	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT MACROTHROMBOCYTOPENIA	—	Disgenet	34704371	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Duane retraction syndrome	Uncertain significance	ClinVar Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Microcephaly	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polymicrogyria with optic nerve hypoplasia	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar ClinGen, Disgenet, GWAS catalog, Orphanet ClinGen, Disgenet, GWAS catalog, Orphanet ClinGen, Disgenet, GWAS catalog, Orphanet	19896110, 28388629, 29265763, 29348930, 31481326, 609528	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
TUBA8-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (36)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aplasia of muscle	Aplasia Of Muscle	BEFREE	21572057		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	16734683		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	29892015, 30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	29892015, 30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	16380905	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	16380905		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar I disorder	Bipolar Disorder	BEFREE	16380905		★☆☆☆☆ Found in Text Mining only
Colpocephaly	Colpocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital anomaly of brain	Brain malformation	BEFREE	29265763		★☆☆☆☆ Found in Text Mining only
Dysgenesis of corpus callosum	Dysplastic corpus callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	28063004		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Ventricular	Congenital heart septal defect	Pubtator	19268070	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplasia of the optic nerve	Hypoplasia Of The Optic Nerve	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lissencephaly	Lissencephaly	Pubtator	19896110	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28063004		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	28063004		★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Malformation of cortical development	BEFREE	31481326		★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	BEFREE	22591407		★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21872825		★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	29892015, 30061737		★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	Pubtator	19896110	Associate	★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	BEFREE	28388629		★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polymicrogyria With Optic Nerve Hypoplasia	Polymicrogyria With Optic Nerve Hypoplasia	BEFREE	19896110		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Polymicrogyria With Optic Nerve Hypoplasia	Polymicrogyria With Optic Nerve Hypoplasia	ORPHANET_DG	19896110		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Polymicrogyria With Optic Nerve Hypoplasia	Polymicrogyria With Optic Nerve Hypoplasia	GENOMICS_ENGLAND_DG	19896110, 28007376		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Polymicrogyria with optic nerve hypoplasia	Polymicrogyria With Optic Nerve Hypoplasia	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Polymicrogyria With Optic Nerve Hypoplasia	Polymicrogyria With Optic Nerve Hypoplasia	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Polymicrogyria With Optic Nerve Hypoplasia	Polymicrogyria With Optic Nerve Hypoplasia	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Spondylitis Ankylosing	Ankylosing spondylitis	Pubtator	35126370	Associate	★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	HPO_DG			★☆☆☆☆ Found in Text Mining only
West Syndrome	West Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

TUBB1 1 shared diseaseMacrothrombocytopenia 28 shared pathwaysPhagosome, Gap junction, Motor proteins, Parkinson disease, Prion disease, Pathogenic Escherichia coli infection, Salmonella infection, Cilium Assembly, Aggrephagy, COPI-mediated anterograde transport, COPI-dependent Golgi-to-ER retrograde traffic, Separation of Sister Chromatids +16 more 2 shared evidence sourcesOrphanet (Macrothrombocytopenia), Disgenet (Macrothrombocytopenia) Related via 28 shared pathways including Phagosome, Gap junction — evidence mostly Orphanet. TUBA3E 30 shared pathwaysPhagosome, Apoptosis, Tight junction, Gap junction, Motor proteins, Parkinson disease, Prion disease, Pathogenic Escherichia coli infection, Salmonella infection, Cilium Assembly, Aggrephagy, COPI-mediated anterograde transport +18 more Related via 30 shared pathways including Phagosome, Apoptosis. TUBAL3 30 shared pathwaysPhagosome, Apoptosis, Tight junction, Gap junction, Motor proteins, Parkinson disease, Prion disease, Pathogenic Escherichia coli infection, Salmonella infection, Cilium Assembly, Aggrephagy, COPI-mediated anterograde transport +18 more Related via 30 shared pathways including Phagosome, Apoptosis. TUBB2B 1 shared diseasePolymicrogyria 28 shared pathwaysPhagosome, Gap junction, Motor proteins, Parkinson disease, Prion disease, Pathogenic Escherichia coli infection, Salmonella infection, Cilium Assembly, Aggrephagy, COPI-mediated anterograde transport, COPI-dependent Golgi-to-ER retrograde traffic, Separation of Sister Chromatids +16 more 2 shared evidence sourcesDisgenet (Polymicrogyria), Orphanet (Polymicrogyria) Related via 28 shared pathways including Phagosome, Gap junction — evidence mostly Disgenet. TUBA1B 30 shared pathwaysPhagosome, Apoptosis, Tight junction, Gap junction, Motor proteins, Parkinson disease, Prion disease, Pathogenic Escherichia coli infection, Salmonella infection, Cilium Assembly, Aggrephagy, COPI-mediated anterograde transport +18 more Related via 30 shared pathways including Phagosome, Apoptosis.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
TUBB1	1	["Macrothrombocytopenia"]	28	["Phagosome","Gap junction","Motor proteins","Parkinson disease","Prion disease","Pathogenic Escherichia coli infection","Salmonella infection","Cilium Assembly","Aggrephagy","COPI-mediated anterograde transport","COPI-dependent Golgi-to-ER retrograde traffic","Separation of Sister Chromatids"]	2	["Orphanet (Macrothrombocytopenia)","Disgenet (Macrothrombocytopenia)"]
TUBA3E	0	[]	30	["Phagosome","Apoptosis","Tight junction","Gap junction","Motor proteins","Parkinson disease","Prion disease","Pathogenic Escherichia coli infection","Salmonella infection","Cilium Assembly","Aggrephagy","COPI-mediated anterograde transport"]	0	[]
TUBAL3	0	[]	30	["Phagosome","Apoptosis","Tight junction","Gap junction","Motor proteins","Parkinson disease","Prion disease","Pathogenic Escherichia coli infection","Salmonella infection","Cilium Assembly","Aggrephagy","COPI-mediated anterograde transport"]	0	[]
TUBB2B	1	["Polymicrogyria"]	28	["Phagosome","Gap junction","Motor proteins","Parkinson disease","Prion disease","Pathogenic Escherichia coli infection","Salmonella infection","Cilium Assembly","Aggrephagy","COPI-mediated anterograde transport","COPI-dependent Golgi-to-ER retrograde traffic","Separation of Sister Chromatids"]	2	["Disgenet (Polymicrogyria)","Orphanet (Polymicrogyria)"]
TUBA1B	0	[]	30	["Phagosome","Apoptosis","Tight junction","Gap junction","Motor proteins","Parkinson disease","Prion disease","Pathogenic Escherichia coli infection","Salmonella infection","Cilium Assembly","Aggrephagy","COPI-mediated anterograde transport"]	0	[]

Diseases Linked via Similar Genes

Neurodevelopmental disorder Linked via 2 of 5 related genesTUBA3E, TUBAL3 Lissencephaly Linked via 2 of 5 related genesTUBA3E, TUBB2B Non-specific syndromic intellectual disability Linked via 2 of 5 related genesTUBA3E, TUBAL3 Congenital fibrosis of extraocular muscles Linked via 2 of 5 related genesTUBB2B, TUBA1B Congenital hypothyroidism Linked via 1 of 5 related genesTUBB1

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Neurodevelopmental disorder	2	["TUBA3E","TUBAL3"]
Lissencephaly	2	["TUBA3E","TUBB2B"]
Non-specific syndromic intellectual disability	2	["TUBA3E","TUBAL3"]
Congenital fibrosis of extraocular muscles	2	["TUBB2B","TUBA1B"]
Congenital hypothyroidism	1	["TUBB1"]