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	51807
Gene name	Tubulin alpha 8
Gene symbol	TUBA8
Synonyms (NCBI Gene)	CDCBM8MACTHC2TUBAL2
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

Show/Hide all (3)

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

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

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

MIM	HGNC	e!Ensembl
605742	12410	ENSG00000183785

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

Interactions

View interactions

	KEGG		Reactome
	Phagosome Apoptosis Tight junction 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 Cilium Assembly 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 (1)

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

Show/Hide Unknown Diseases (8)

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.
ATRIAL FIBRILLATION	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FLUTTER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT MACROTHROMBOCYTOPENIA	—	Disgenet	★★★★★ ★★☆☆☆ 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	★★★★★ ★★★☆☆ 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

Show/Hide Text Mining Associations (36)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
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	CTD_human_DG	29892015, 30061737		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	29892015, 30061737		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	16380905		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	16380905	Associate	★★★★★ ★★☆☆☆ 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	GENOMICS_ENGLAND_DG	19896110, 28007376		★★★★★ ★★★☆☆ 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	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

TUBA8 (tubulin alpha 8)