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

Gene Gene information from NCBI Gene database. Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
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

Show/Hide all (2)

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

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		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		Platelet degranulation 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 Regulation of PLK1 Activity at G2/M Transition HSP90 chaperone cycle for steroid hormone receptors (SHR) Loss of Nlp from mitotic centrosomes Recruitment of mitotic centrosome proteins and complexes Loss of proteins required for interphase microtubule organization from the centrosome Recruitment of NuMA to mitotic centrosomes Recycling pathway of L1 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)

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
Amyotrophic lateral sclerosis type 22	Likely pathogenic; Pathogenic	rs730880025, rs730880026, rs730880027, rs368743618, rs730880029	RCV000157034 RCV000157035 RCV000157036 RCV000157038 RCV000157039	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (10)

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.
Amyotrophic lateral sclerosis	Uncertain significance	ClinVar CTD, Disgenet CTD, Disgenet	★★★★★ ★★★☆☆ 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, GWAS catalog	★★★★★ ★★☆☆☆ 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	★★★★★ ★★☆☆☆ 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
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	BEFREE	28069311		★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	28069311	Associate	★★★★★ ★☆☆☆☆ 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

TUBA4A (tubulin alpha 4a)