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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	10382
Gene name Gene Name - the full gene name approved by the HGNC.	Tubulin beta 4A class IVa
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	TUBB4A
Synonyms (NCBI Gene) Gene synonyms aliases	DYT4, TUBB4, beta-5
Chromosome Chromosome number	19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	19p13.3
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a member of the beta tubulin family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene cause hypomyelinating leukodystrophy-6 and au

Show/Hide all(33)

SNP ID	Visualize variation	Clinical significance	Consequence
rs369467354	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs483352809	C>T	Pathogenic	Coding sequence variant, missense variant
rs587776983	G>A,C,T	Pathogenic	5 prime UTR variant, coding sequence variant, synonymous variant, missense variant
rs587777074	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs587777428	C>T	Pathogenic	Coding sequence variant, missense variant
rs587777429	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs587777467	C>G,T	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs587777468	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs748787734	G>A,C	Likely-pathogenic	Synonymous variant, coding sequence variant, missense variant
rs756762431	C>G,T	Pathogenic	Coding sequence variant, missense variant
rs761635539	G>A	Pathogenic	Missense variant, coding sequence variant
rs767399782	C>A,T	Pathogenic-likely-pathogenic, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs797045074	C>G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs886039470	C>T	Pathogenic	Missense variant, coding sequence variant
rs886041007	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs886041008	G>T	Pathogenic	Missense variant, coding sequence variant
rs886041009	C>A	Pathogenic	Missense variant, coding sequence variant
rs886041010	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs886041011	G>T	Pathogenic	Missense variant, coding sequence variant
rs886041012	C>A	Pathogenic	Missense variant, coding sequence variant
rs886041013	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs886041014	A>C	Pathogenic	Missense variant, coding sequence variant
rs886041015	C>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs886041016	C>T	Pathogenic	Missense variant, coding sequence variant
rs886041017	G>T	Pathogenic	Missense variant, coding sequence variant
rs886041018	A>G,T	Pathogenic	Missense variant, coding sequence variant
rs886041019	T>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs886041020	A>G	Pathogenic	Missense variant, coding sequence variant
rs886041021	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs886041022	A>C,G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs1057517986	C>G	Pathogenic	Coding sequence variant, missense variant
rs1131691696	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs1599405952	G>T	Likely-pathogenic	Coding sequence variant, missense variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT022751	hsa-miR-124-3p	Microarray	18668037
MIRT036536	hsa-miR-1226-3p	CLASH	23622248
MIRT513393	hsa-miR-3974	PAR-CLIP	23446348
MIRT513392	hsa-miR-488-5p	PAR-CLIP	23446348
MIRT513390	hsa-miR-150-5p	PAR-CLIP	23446348
MIRT513391	hsa-miR-532-3p	PAR-CLIP	23446348
MIRT513389	hsa-miR-2116-3p	PAR-CLIP	23446348
MIRT513388	hsa-miR-6845-3p	PAR-CLIP	23446348
MIRT513387	hsa-miR-1909-3p	PAR-CLIP	23446348
MIRT513386	hsa-miR-6722-3p	PAR-CLIP	23446348
MIRT513385	hsa-miR-1207-5p	PAR-CLIP	23446348
MIRT513384	hsa-miR-4763-3p	PAR-CLIP	23446348
MIRT513383	hsa-miR-4713-5p	PAR-CLIP	23446348
MIRT513381	hsa-miR-6873-3p	PAR-CLIP	23446348
MIRT513382	hsa-miR-4768-5p	PAR-CLIP	23446348
MIRT513380	hsa-miR-6833-3p	PAR-CLIP	23446348
MIRT513379	hsa-miR-6809-3p	PAR-CLIP	23446348
MIRT513393	hsa-miR-3974	PAR-CLIP	23446348
MIRT513392	hsa-miR-488-5p	PAR-CLIP	23446348
MIRT513390	hsa-miR-150-5p	PAR-CLIP	23446348
MIRT513391	hsa-miR-532-3p	PAR-CLIP	23446348
MIRT513389	hsa-miR-2116-3p	PAR-CLIP	23446348
MIRT513388	hsa-miR-6845-3p	PAR-CLIP	23446348
MIRT513387	hsa-miR-1909-3p	PAR-CLIP	23446348
MIRT513386	hsa-miR-6722-3p	PAR-CLIP	23446348
MIRT513385	hsa-miR-1207-5p	PAR-CLIP	23446348
MIRT513384	hsa-miR-4763-3p	PAR-CLIP	23446348
MIRT513383	hsa-miR-4713-5p	PAR-CLIP	23446348
MIRT513381	hsa-miR-6873-3p	PAR-CLIP	23446348
MIRT513382	hsa-miR-4768-5p	PAR-CLIP	23446348
MIRT513380	hsa-miR-6833-3p	PAR-CLIP	23446348
MIRT513379	hsa-miR-6809-3p	PAR-CLIP	23446348

Show/Hide all(33)

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:0003924	Function	GTPase activity	IEA
GO:0005200	Function	Structural constituent of cytoskeleton	IBA
GO:0005200	Function	Structural constituent of cytoskeleton	IEA
GO:0005509	Function	Calcium ion binding	IMP	10211825
GO:0005515	Function	Protein binding	IPI	20195357, 24275654, 31046837
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:0005829	Component	Cytosol	TAS
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	IEA
GO:0005930	Component	Axoneme	IDA	12475942
GO:0007017	Process	Microtubule-based process	IEA
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0031115	Process	Negative regulation of microtubule polymerization	IMP	10211825
GO:0033269	Component	Internode region of axon	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043209	Component	Myelin sheath	IEA
GO:0045171	Component	Intercellular bridge	IDA
GO:0045171	Component	Intercellular bridge	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0072686	Component	Mitotic spindle	IDA
GO:0072686	Component	Mitotic spindle	IEA

MIM	HGNC	e!Ensembl
602662	20774	ENSG00000104833

Protein

UniProt ID

P04350

Protein name

Tubulin beta-4A chain (Tubulin 5 beta) (Tubulin beta-4 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 → 212	Tubulin/FtsZ family, GTPase domain	Domain
PF03953	Tubulin_C	261 → 383	Tubulin C-terminal domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Major isotype in brain, where it represents 46% of all beta-tubulins. In the brain, highest expression levels in the cerebellum, followed by putamen and white matter. Moderate levels in testis. Very low levels, if any, in other tissues

Sequence

MREIVHLQAGQCGNQIGAKFWEVISDEHGIDPTGTYHGDSDLQLERINVYYNEATGGNYV
PRAVLVDLEPGTMDSVRSGPFGQIFRPDNFVFGQSGAGNNWAKGHYTEGAELVDAVLDVV
RKEAESCDCLQGFQLTHSLGGGTGSGMGTLLISKIREEFPDRIMNTFSVVPSPKVSDTVV
EPYNATLSVHQLVENTDETYCIDNEALYDICFRTLKLTTPTYGDLNHLVSATMSGVTTCL
RFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTSRGSQQYRALTVPELTQQMFDAKNMM
AACDPRHGRYLTVAAVFRGRMSMKEVDEQMLSVQSKNSSYFVEWIPNNVKTAVCDIPPRG
LKMAATFIGNSTAIQELFKRISEQFTAMFRRKAFLHWYTGEGMDEMEFTEAESNMNDLVS
EYQQYQDATAEEGEFEEEAEEEVA

Sequence length

444

Interactions

View interactions

	KEGG		Reactome
	Phagosome 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 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

Show/Hide Causal Diseases (6)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Dystonia	Torsion dystonia 4	rs587777428, rs767399782, rs587777468, rs587776983	N/A
Hypomyelinating Leukodystrophy	Hypomyelinating leukodystrophy 6	rs886041010, rs587777428, rs886041007, rs587777468, rs886039470, rs1131691696, rs587777429, rs886041021, rs748787734, rs587777467, rs797045074, rs1568409626, rs886041019, rs761635539, rs886041018 View all (7 more)	N/A
Auditory neuropathy	auditory neuropathy spectrum disorder	rs886039470	N/A
Cerebral palsy	cerebral palsy	rs587777428, rs767399782	N/A
Developmental Delay	global developmental delay	rs587777428	N/A
Microcephaly	microcephaly	rs767399782	N/A

Show/Hide Unknown Diseases (1)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Cleft Lip With Or Without Cleft Palate	Cleft lip with or without cleft palate	N/A	N/A	GWAS

Show/Hide Text Mining Associations (40)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Anodontia	Associate	23582646, 28655586, 28973395, 35275727, 37003180
Atrophy	Associate	34514881
Basal Ganglia Diseases	Associate	24785942
Brain Diseases	Associate	28973395
Cerebellar Diseases	Associate	25085639
Chorea	Associate	24598712
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules	Associate	28973395
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	34514881
Demyelinating Diseases	Associate	24742798, 24785942, 25085639, 28973395, 29451896, 34514881, 40179460
Developmental Disabilities	Associate	34514881
Dysphonia	Associate	23595291
Dystonia	Associate	23582646, 23595291, 24598712, 28655586, 32943487, 35275727
Dystonia musculorum deformans 4	Associate	24785942
Dystonic Disorders	Associate	24598712, 24742798, 28655586, 28973395
Heredodegenerative Disorders Nervous System	Associate	24742798
Hypoxia Brain	Associate	31940282
Immunoglobulin G4 Related Disease	Associate	34997144
Intellectual Disability	Associate	24598712
Laryngitis	Associate	32943487
Leukodystrophy Hypomyelinating 6	Associate	23582646, 24598712, 24742798, 24785942, 25085639, 28655586, 28973395, 35275727, 37003180
Leukodystrophy Metachromatic	Associate	32573057, 37003180, 37461315
Leukoencephalopathies	Associate	24598712, 34514881, 35803560
Livedoid Vasculopathy	Associate	40179460
Melanoma Cutaneous Malignant	Associate	36173063
Mental Disorders	Associate	24598712
Movement Disorders	Associate	37461315
Neoplasm Metastasis	Associate	35589707
Neoplasms	Associate	15986332, 35589707
Nervous System Diseases	Associate	37461315
Neurologic Manifestations	Associate	28973395, 34514881
Pelizaeus Merzbacher like disease autosomal recessive 2	Associate	24742798, 28655586, 33597727
Personality Disorders	Stimulate	35589707
Prostatic Neoplasms	Stimulate	35589707
Psychomotor Disorders	Associate	40179460
Quadriplegia	Associate	28973395
Squamous Cell Carcinoma of Head and Neck	Stimulate	37161060
Status Asthmaticus	Associate	29843677
Thakker Donnai syndrome	Associate	24598712
Torticollis	Associate	28655586, 32943487
Whispering dysphonia hereditary	Associate	23595291, 24598712, 28655586

TUBB4A (tubulin beta 4A class IVa)