Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	7277
Gene name	Tubulin alpha 4a
Gene symbol	TUBA4A
Synonyms (NCBI Gene)	ALS22CMYO26FTDALS9H2-ALPHAOZEMA23SPAX11TUBA1
Chromosome	2
Chromosome location	2q35
Summary	Microtubules of the eukaryotic cytoskeleton perform essential and diverse functions and are composed of a heterodimer of alpha and beta tubulin. The genes encoding these microtubule constituents are part of the tubulin superfamily, which is composed of si

SNP ID	Visualize variation	Clinical significance	Consequence
rs730880028	G>A	Pathogenic	Missense variant, coding sequence variant
rs1574884336	CT>-	Likely-pathogenic	Frameshift variant, coding sequence variant

26 Show/Hide all (26)

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:0005200	Function	Structural constituent of cytoskeleton	IBA
GO:0005200	Function	Structural constituent of cytoskeleton	IEA
GO:0005515	Function	Protein binding	IPI	16455083, 20855515, 28514442, 30845169, 32296183, 32814053, 33961781
GO:0005525	Function	GTP binding	IBA
GO:0005525	Function	GTP binding	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IDA	24327345
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IBA
GO:0005874	Component	Microtubule	IDA	21525035
GO:0005874	Component	Microtubule	IEA
GO:0005929	Component	Cilium	IDA
GO:0007017	Process	Microtubule-based process	IEA
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0015630	Component	Microtubule cytoskeleton	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019899	Function	Enzyme binding	IEA
GO:0019901	Function	Protein kinase binding	IPI	24327345
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19199708, 20458337

MIM	HGNC	e!Ensembl
191110	12407	ENSG00000127824

P68366

Protein name

Tubulin alpha-4A chain (EC 3.6.5.-) (Alpha-tubulin 1) (Testis-specific alpha-tubulin) (Tubulin H2-alpha) (Tubulin alpha-1 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

Sequence

MRECISVHVGQAGVQMGNACWELYCLEHGIQPDGQMPSDKTIGGGDDSFTTFFCETGAGK
HVPRAVFVDLEPTVIDEIRNGPYRQLFHPEQLITGKEDAANNYARGHYTIGKEIIDPVLD
RIRKLSDQCTGLQGFLVFHSFGGGTGSGFTSLLMERLSVDYGKKSKLEFSIYPAPQVSTA
VVEPYNSILTTHTTLEHSDCAFMVDNEAIYDICRRNLDIERPTYTNLNRLISQIVSSITA
SLRFDGALNVDLTEFQTNLVPYPRIHFPLATYAPVISAEKAYHEQLSVAEITNACFEPAN
QMVKCDPRHGKYMACCLLYRGDVVPKDVNAAIAAIKTKRSIQFVDWCPTGFKVGINYQPP
TVVPGGDLAKVQRAVCMLSNTTAIAEAWARLDHKFDLMYAKRAFVHWYVGEGMEEGEFSE
AREDMAALEKDYEEVGIDSYEDEDEGEE

Sequence length

448

Interactions

View interactions

KEGG Pathway	Reactome Pathway
Phagosome	Platelet degranulation
Apoptosis	Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane
Tight junction	MHC class II antigen presentation
Gap junction	Separation of Sister Chromatids
Motor proteins	Resolution of Sister Chromatid Cohesion
Alzheimer disease	Regulation of PLK1 Activity at G2/M Transition
Parkinson disease	HSP90 chaperone cycle for steroid hormone receptors (SHR)
Amyotrophic lateral sclerosis	Loss of Nlp from mitotic centrosomes
Huntington disease	Recruitment of mitotic centrosome proteins and complexes
Prion disease	Loss of proteins required for interphase microtubule organization from the centrosome
Pathways of neurodegeneration - multiple diseases	Recruitment of NuMA to mitotic centrosomes
Pathogenic Escherichia coli infection	Recycling pathway of L1
Salmonella infection	Hedgehog 'off' state
	Cilium Assembly
	Anchoring of the basal body to the plasma membrane
	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
	AURKA Activation by TPX2
	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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Amyotrophic lateral sclerosis type 22	Likely pathogenic; Pathogenic	rs730880025, rs730880026, rs730880027, rs368743618, rs730880029	RCV000157034 RCV000157035 RCV000157036 RCV000157038 RCV000157039	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	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. Show/Hide Unknown Diseases (10)
Amyotrophic lateral sclerosis	Uncertain significance	ClinVar CTD, Disgenet CTD, Disgenet	28478440	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AMYOTROPHIC LATERAL SCLEROSIS 10	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic lateral sclerosis type 10	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
autosomal dominant macrothrombocytopenia	—	ClinGen	25374358, 30760556, ClinGen report	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLEPHAROPTOSIS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 9	—	CTD, HPO CTD, HPO	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ptosis	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TUBA4A-related disorder	Benign; Uncertain significance; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	34737425	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (36)
Alzheimer Disease	Alzheimer disease	Pubtator	28069311	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	25374348, 26465396, 26675813, 27488538, 28069311, 30030593		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	25374348, 26675813, 28069311, 35327632, 36747013	Associate	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	HPO_DG			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	36747013	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA	Amyotrophic Lateral Sclerosis, With Or Without Frontotemporal Dementia	UNIPROT_DG	25374358		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA	Amyotrophic Lateral Sclerosis, With Or Without Frontotemporal Dementia	GENOMICS_ENGLAND_DG	25893256		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA	Amyotrophic Lateral Sclerosis, With Or Without Frontotemporal Dementia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA	Amyotrophic Lateral Sclerosis, With Or Without Frontotemporal Dementia	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic Lateral Sclerosis, Familial	Amyotrophic lateral sclerosis	BEFREE	25374348		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	26675813, 28069311	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	32322884	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37241967	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	39940785	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	25374348	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	28069311		★★★★★ ★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	28069311, 32843152, 35327632	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatic Adenomas Familial	Hepatic adenoma	Pubtator	25374358	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28069311		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	25374358	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	34684727	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	12054644		★★★★★ ★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory disorders	Pubtator	28069311	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	23469041		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	23469041	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	16126374		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	36218090	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	28069311	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	28069311		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	9627113		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	37291167	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	28069311	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28069311		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	35327632	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Ataxia	Spastic ataxia	Pubtator	37418012	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	35669725	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
TUBB6	2	["Spastic ataxia","Blepharoptosis"]	30	["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"]	1	["Disgenet (Blepharoptosis)"]
TUBA1A	0	[]	38	["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	[]
TUBB4A	0	[]	36	["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"]	0	[]
TUBB4B	0	[]	36	["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"]	0	[]
TUBB1	1	["Macrothrombocytopenia"]	30	["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	["GWAS catalog (Macrothrombocytopenia)","Disgenet (Macrothrombocytopenia)"]

TUBA4A (tubulin alpha 4a)

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