Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	112714
Gene name	Tubulin alpha 3e
Gene symbol	TUBA3E
Synonyms (NCBI Gene)	-
Chromosome	2
Chromosome location	2q21.1
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
rs730882212	G>A	Likely-pathogenic	Missense variant, coding sequence variant

20 Show/Hide all (20)

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	25416956, 28514442, 32296183, 33961781
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	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:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
619918	20765	ENSG00000152086

Q6PEY2

Protein name

Tubulin alpha-3E chain (EC 3.6.5.-) (Alpha-tubulin 3E) [Cleaved into: Detyrosinated tubulin alpha-3E 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

MRECISIHVGQAGVQIGNACWELYCLEHGIQPDGQMPSDKTIGGGDDSFNTFFSETGAGK
HVPRAVFVDLEPTVVDEVRTGTYRQLFHPEQLITGKEDAASNYARGHYTIGKEIVDLVLD
RIRKLADLCTGLQGFLIFHSFGGGTGSGFASLLMERLSVDYSKKSKLEFAIYPAPQVSTA
VVEPYNSILTTHTTLEHSDCAFMVDNEAIYDICRRNLDIERPTYTNLNRLIGQIVSSITA
SLRFDGALNVDLTEFQTNLVPYPRIHFPLATYAPVISAEKAYHEQLSVAEITNACFEPAN
QMVKCDPRHGKYMACCMLYRGDVVPKDVNAAIATIKTKRTIQFVDWCPTGFKVGINYQPP
TVVPGGDLAKVQRAVCMLSNTTAIAEAWARLVHKFDLMYAKWAFVHWYVGEGMEEGEFSE
AREDLAALEKDCEEVGVDSVEAEAEEGEAY

Sequence length

450

Interactions

View interactions

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

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
Global developmental delay	Likely pathogenic	rs730882212	RCV000162120	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lissencephaly	Likely pathogenic	rs730882212	RCV000162120	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary microcephaly	Likely pathogenic	rs730882212	RCV000162120	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic	rs730882212	RCV000162120	★★★★★ ★★★★☆ 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)
Acute myeloid leukemia	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	GenCC	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL MICROCEPHALY	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	—	★★★★★ ★★☆☆☆ 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
Breast Neoplasms	Breast neoplasm	Pubtator	37747033	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lissencephaly	Lissencephaly	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary microcephaly	Microcephaly	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
MZT2B	2	["Lissencephaly","Congenital microcephaly"]	1	["Recruitment of NuMA to mitotic centrosomes"]	2	["Disgenet (Lissencephaly)","Disgenet (Congenital microcephaly)"]
TUBA8	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"]	1	["GenCC (Neurodevelopmental disorder)"]
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	[]
TUBA3D	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	[]

TUBA3E (tubulin alpha 3e)

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