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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10383
Gene name	Tubulin beta 4B class IVb
Gene symbol	TUBB4B
Synonyms (NCBI Gene)	Beta2LCAEODTUBB2TUBB2C
Chromosome	9
Chromosome location	9q34.3

Show/Hide all (18)

miRTarBase ID	miRNA	Experiments	Reference
MIRT007296	hsa-miR-30a-5p	Western blot	23338554
MIRT031472	hsa-miR-16-5p	Proteomics	18668040
MIRT051633	hsa-let-7e-5p	CLASH	23622248
MIRT050955	hsa-miR-17-5p	CLASH	23622248
MIRT050785	hsa-miR-17-3p	CLASH	23622248
MIRT050330	hsa-miR-25-3p	CLASH	23622248
MIRT049307	hsa-miR-92a-3p	CLASH	23622248
MIRT049307	hsa-miR-92a-3p	CLASH	23622248
MIRT049307	hsa-miR-92a-3p	CLASH	23622248
MIRT045881	hsa-miR-128-3p	CLASH	23622248
MIRT044989	hsa-miR-186-5p	CLASH	23622248
MIRT044273	hsa-miR-106b-5p	CLASH	23622248
MIRT044225	hsa-miR-301a-3p	CLASH	23622248
MIRT044022	hsa-miR-365a-3p	CLASH	23622248
MIRT043536	hsa-miR-331-3p	CLASH	23622248
MIRT036534	hsa-miR-1226-3p	CLASH	23622248
MIRT364919	hsa-miR-432-3p	HITS-CLIP	24374217
MIRT364919	hsa-miR-432-3p	HITS-CLIP	24374217

Show/Hide all (39)

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:0003725	Function	Double-stranded RNA binding	IDA	21266579
GO:0003924	Function	GTPase activity	IEA
GO:0005200	Function	Structural constituent of cytoskeleton	IBA
GO:0005200	Function	Structural constituent of cytoskeleton	IEA
GO:0005515	Function	Protein binding	IPI	24275654, 31046837
GO:0005525	Function	GTP binding	IBA
GO:0005525	Function	GTP binding	IEA
GO:0005576	Component	Extracellular region	TAS
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:0005856	Component	Cytoskeleton	TAS	16130169
GO:0005874	Component	Microtubule	IBA
GO:0005874	Component	Microtubule	IDA	21525035
GO:0005874	Component	Microtubule	IEA
GO:0005879	Component	Axonemal microtubule	IDA	36191189
GO:0005929	Component	Cilium	IEA
GO:0007017	Process	Microtubule-based process	IEA
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0030317	Process	Flagellated sperm motility	IEA
GO:0031514	Component	Motile cilium	IEA
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0036126	Component	Sperm flagellum	IEA
GO:0042267	Process	Natural killer cell mediated cytotoxicity	NAS	11120798
GO:0042288	Function	MHC class I protein binding	TAS	11120798
GO:0042995	Component	Cell projection	IEA
GO:0045171	Component	Intercellular bridge	IDA
GO:0045171	Component	Intercellular bridge	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051082	Function	Unfolded protein binding	NAS	11120798
GO:0070062	Component	Extracellular exosome	HDA	11487543, 20458337, 23533145
GO:0072686	Component	Mitotic spindle	IDA
GO:0072686	Component	Mitotic spindle	IEA
GO:1903561	Component	Extracellular vesicle	HDA	24769233

MIM	HGNC	e!Ensembl
602660	20771	ENSG00000188229

P68371

Protein name

Tubulin beta-4B chain (Tubulin beta-2 chain) (Tubulin beta-2C 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

PDB

7UN1 , 7UNG , 8J07 , 8SH7

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: Ubiquitous. {ECO:0000269|PubMed:20191564}.

Sequence

MREIVHLQAGQCGNQIGAKFWEVISDEHGIDPTGTYHGDSDLQLERINVYYNEATGGKYV
PRAVLVDLEPGTMDSVRSGPFGQIFRPDNFVFGQSGAGNNWAKGHYTEGAELVDSVLDVV
RKEAESCDCLQGFQLTHSLGGGTGSGMGTLLISKIREEYPDRIMNTFSVVPSPKVSDTVV
EPYNATLSVHQLVENTDETYCIDNEALYDICFRTLKLTTPTYGDLNHLVSATMSGVTTCL
RFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTSRGSQQYRALTVPELTQQMFDAKNMM
AACDPRHGRYLTVAAVFRGRMSMKEVDEQMLNVQNKNSSYFVEWIPNNVKTAVCDIPPRG
LKMSATFIGNSTAIQELFKRISEQFTAMFRRKAFLHWYTGEGMDEMEFTEAESNMNDLVS
EYQQYQDATAEEEGEFEEEAEEEVA

Sequence length

445

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 Neutrophil degranulation 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 (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Leber congenital amaurosis with early-onset deafness	Likely pathogenic; Pathogenic	rs1554786803, rs1554786802	RCV000584731 RCV000584738

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
TUBB4B-related disorder	Benign; Likely benign	rs139337044, rs572419362, rs143176276, rs147118736, rs141571348, rs373518185, rs201683111, rs373363190, rs370341505, rs770443576, rs753584963, rs143366417, rs758179543, rs779051325, rs530728404, rs201909594, rs749065414 View all (2 more)	RCV003903437 RCV003958797 RCV003968758 RCV004757514 RCV003936412 RCV003919251 RCV003954301 RCV003966598 RCV003893843 RCV003894059 RCV003904654 RCV003971849 RCV003949351 RCV003917339 RCV003946883 RCV003954662 RCV003976782 RCV003940412 RCV003970453

Show/Hide Text Mining Associations (22)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	37784035
Brain Injuries Traumatic	Associate	27530814
Cardiomyopathies	Associate	32631246
Cerebellar Hypoplasia	Associate	28013290
Colitis Ulcerative	Associate	32322884
Colorectal Neoplasms	Associate	20872967
Deafness	Associate	35240325
Dysequilibrium syndrome	Associate	28013290
Epididymitis	Associate	24726218
Hearing Loss	Associate	34021019, 35240325
Hearing Loss Sensorineural	Associate	29198720
Infertility	Associate	24726218
Leber Congenital Amaurosis	Associate	29198720, 35240325, 40725402
Neoplasm Metastasis	Associate	20872967
Neoplasm Micrometastasis	Associate	20872967
Neoplasms	Associate	37784035
Neuroblastoma	Associate	18797883
Prostatic Neoplasms	Associate	27121963, 31422041
Retinal Diseases	Associate	34021019
Squamous Cell Carcinoma of Head and Neck	Associate	20497865
Syndrome	Associate	28013290
Usher Syndrome Type IF	Associate	34021019

TUBB4B (tubulin beta 4B class IVb)