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

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
Leber congenital amaurosis with early-onset deafness	Likely pathogenic; Pathogenic	rs1554786803, rs1554786802	RCV000584731 RCV000584738	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (3)

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.
LEBER CONGENITAL AMAUROSIS	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TUBB4B-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (45)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Amaurosis congenita of Leber, type 1	Leber congenital amaurosis	BEFREE	29198720		★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	10780896, 10873550, 21294785		★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Injuries Traumatic	Brain injuries	Pubtator	27530814	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	1347417, 18463976		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	32631246	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar hypoplasia	Pubtator	28013290	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	BEFREE	28892561		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	23328482		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	32322884	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	26989024, 31375012		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30621030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	20872967	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	35240325	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dermatitis, Atopic	Dermatitis	BEFREE	29498756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	10334323, 10905500, 17440689		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	10334323, 10905500, 17440689		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	10334323, 10905500		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	10334323, 10905500, 12861411		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysequilibrium syndrome	Dysequilibrium syndrome	Pubtator	28013290	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	BEFREE	29498756		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	34021019, 35240325	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	29198720	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	23328482		★★★★★ ★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	23896721		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	24726218	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leber Congenital Amaurosis	Leber congenital amaurosis	Pubtator	29198720, 35240325, 40725402	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS	Leber Congenital Amaurosis	UNIPROT_DG	29198720		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS	Leber Congenital Amaurosis	CLINGEN_DG	29198720		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS	Leber Congenital Amaurosis	CLINVAR_DG	29198720		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukoplakia, Oral	Leukoplakia	BEFREE	15014026		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	1347417, 18463976		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	31422041		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30621030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	26989024, 31375012		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	1347417, 15014026, 22127840, 23328482, 26989024, 30621030		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	18797883	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	29117336		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	21738778, 24854656		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Serous Adenocarcinoma	Ovarian serous adenocarcinoma	BEFREE	21328338		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	31422041		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	27121963, 31422041	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	34021019	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	20497865	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	15014026		★★★★★ ★☆☆☆☆ Found in Text Mining only
Usher Syndrome Type IF	Usher syndrome	Pubtator	34021019	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

TUBB4B (tubulin beta 4B class IVb)