Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	113457
Gene name	Tubulin alpha 3d
Gene symbol	TUBA3D
Synonyms (NCBI Gene)	H2-ALPHAKTCN9TUBA2
Chromosome	2
Chromosome location	2q21.1
Summary	This gene encodes a member of the alpha tubulin family. Tubulin is a major component of microtubules, which are composed of alpha- and beta-tubulin heterodimers and microtubule-associated proteins in the cytoskeleton. Microtubules maintain cellular struct

miRTarBase ID	miRNA	Experiments	Reference
MIRT022328	hsa-miR-124-3p	Microarray	18668037

18 Show/Hide all (18)

GO ID	Ontology	Definition	Evidence
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:0005525	Function	GTP binding	IBA
GO:0005525	Function	GTP binding	IEA
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
617878	24071	ENSG00000075886

P0DPH8

Protein name

Tubulin alpha-3D chain (EC 3.6.5.-) (Alpha-tubulin 3D) [Cleaved into: Detyrosinated tubulin alpha-3D 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: Expressed in the cornea, sclera, and peripheral blood (PubMed:29051577). {ECO:0000269|PubMed:29051577}.

Sequence

MRECISIHVGQAGVQIGNACWELYCLEHGIQPDGQMPSDKTIGGGDDSFNTFFSETGAGK
HVPRAVFVDLEPTVVDEVRTGTYRQLFHPEQLITGKEDAANNYARGHYTIGKEIVDLVLD
RIRKLADLCTGLQGFLIFHSFGGGTGSGFASLLMERLSVDYGKKSKLEFAIYPAPQVSTA
VVEPYNSILTTHTTLEHSDCAFMVDNEAIYDICRRNLDIERPTYTNLNRLIGQIVSSITA
SLRFDGALNVDLTEFQTNLVPYPRIHFPLATYAPVISAEKAYHEQLSVAEITNACFEPAN
QMVKCDPRHGKYMACCMLYRGDVVPKDVNAAIATIKTKRTIQFVDWCPTGFKVGINYQPP
TVVPGGDLAKVQRAVCMLSNTTAIAEAWARLDHKFDLMYAKRAFVHWYVGEGMEEGEFSE
AREDLAALEKDYEEVGVDSVEAEAEEGEEY

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	Hedgehog 'off' state
Huntington disease	Cilium Assembly
Prion disease	Intraflagellar transport
Pathways of neurodegeneration - multiple diseases	RHO GTPases activate IQGAPs
Pathogenic Escherichia coli infection	RHO GTPases Activate Formins
Salmonella infection	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)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Keratoconus 9	Pathogenic	rs1553500862, rs756938019	RCV000606401 RCV000613508	★★★★★ ★★★★☆ 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.
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATOCONUS	—	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 Show/Hide Text Mining Associations (11)
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	30423812		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	30423812	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Septal Defects Ventricular	Congenital heart septal defect	Pubtator	30423812	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hidrotic Ectodermal Dysplasia	Hidrotic Ectodermal Dysplasia	BEFREE	9465305		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kabuki make-up syndrome	Kabuki Syndrome	BEFREE	9465305		★★★★★ ★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	BEFREE	29051577		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Keratoconus	Keratoconus	Pubtator	29051577	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATOCONUS 9	Keratoconus	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neural Tube Defects	Neural Tube Defect	BEFREE	16126374		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	9627113		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	BEFREE	30423812		★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Names
TUBA1B	[]	32	["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"]	[]
TUBA3C	[]	32	["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"]	[]
TUBA1C	[]	32	["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"]	[]
TUBB3	[]	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"]	[]
TUBA3E	[]	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"]	[]

TUBA3D (tubulin alpha 3d)

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