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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	10381
Gene name	Tubulin beta 3 class III
Gene symbol	TUBB3
Synonyms (NCBI Gene)	CDCBMCDCBM1CFEOM3CFEOM3AFEOM3TUBB4beta-4
Chromosome	16
Chromosome location	16q24.3
Summary	This gene encodes a class III member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is primarily expressed in neurons and

Show/Hide all (30)

SNP ID	Visualize variation	Clinical significance	Consequence
rs34174718	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs142238093	G>A,T	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, synonymous variant
rs147283850	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant, synonymous variant
rs267607162	C>T	Pathogenic	Missense variant, coding sequence variant
rs267607163	G>A	Pathogenic	Missense variant, coding sequence variant
rs267607164	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs267607165	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs587784505	G>A	Conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, coding sequence variant
rs747480526	C>T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs864321714	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs864321715	G>A	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs864321716	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs864321717	C>T	Pathogenic	Coding sequence variant, missense variant
rs878853256	A>G	Pathogenic	Missense variant, coding sequence variant
rs878853257	G>A	Pathogenic	Missense variant, coding sequence variant
rs878853258	C>T	Pathogenic	Missense variant, coding sequence variant
rs878853279	A>G	Pathogenic	Missense variant, coding sequence variant
rs886039497	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs886041459	C>T	Pathogenic	Missense variant, coding sequence variant
rs1057517908	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1057518593	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1057518686	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1057521924	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, missense variant
rs1064794940	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1064795231	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs1085308026	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691632	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1131691895	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1555625363	C>T	Likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs1555625571	G>C	Pathogenic	Missense variant, coding sequence variant

126

Show/Hide all (126)

miRTarBase ID	miRNA	Experiments	Reference
MIRT000196	hsa-miR-200c-3p	Western blot	20049172
MIRT000196	hsa-miR-200c-3p	ELISAImmunoblotImmunocytochemistryLuciferase reporter assayMicroarrayqRT-PCR	19435871
MIRT000196	hsa-miR-200c-3p	ELISAImmunoblotImmunocytochemistryLuciferase reporter assayMicroarrayqRT-PCR	19435871
MIRT016480	hsa-miR-193b-3p	Proteomics	21512034
MIRT019563	hsa-miR-340-5p	Sequencing	20371350
MIRT028482	hsa-miR-30a-5p	Proteomics	18668040
MIRT031664	hsa-miR-16-5p	Proteomics	18668040
MIRT049056	hsa-miR-92a-3p	CLASH	23622248
MIRT016480	hsa-miR-193b-3p	CLASH	23622248
MIRT041009	hsa-miR-505-3p	CLASH	23622248
MIRT000196	hsa-miR-200c-3p	qRT-PCRWestern blot	23806972
MIRT000196	hsa-miR-200c-3p	qRT-PCRLuciferase reporter assayWestern blot	23394580
MIRT000196	hsa-miR-200c-3p	qRT-PCRLuciferase reporter assayWestern blot	23394580
MIRT000196	hsa-miR-200c-3p	qRT-PCRWestern blot	28003747
MIRT1463321	hsa-miR-1205	CLIP-seq
MIRT1463322	hsa-miR-1233	CLIP-seq
MIRT1463323	hsa-miR-1286	CLIP-seq
MIRT1463324	hsa-miR-200b	CLIP-seq
MIRT1463325	hsa-miR-200c	CLIP-seq
MIRT1463326	hsa-miR-217	CLIP-seq
MIRT1463327	hsa-miR-3141	CLIP-seq
MIRT1463328	hsa-miR-3942-5p	CLIP-seq
MIRT1463329	hsa-miR-429	CLIP-seq
MIRT1463330	hsa-miR-4418	CLIP-seq
MIRT1463331	hsa-miR-4459	CLIP-seq
MIRT1463332	hsa-miR-4477a	CLIP-seq
MIRT1463333	hsa-miR-4703-5p	CLIP-seq
MIRT1463334	hsa-miR-4722-5p	CLIP-seq
MIRT1463335	hsa-miR-4779	CLIP-seq
MIRT1463336	hsa-miR-509-3-5p	CLIP-seq
MIRT1463337	hsa-miR-509-5p	CLIP-seq
MIRT1463322	hsa-miR-1233	CLIP-seq
MIRT1463338	hsa-miR-1254	CLIP-seq
MIRT1463339	hsa-miR-1537	CLIP-seq
MIRT1463340	hsa-miR-1972	CLIP-seq
MIRT1463341	hsa-miR-3116	CLIP-seq
MIRT1463327	hsa-miR-3141	CLIP-seq
MIRT1463342	hsa-miR-3617	CLIP-seq
MIRT1463343	hsa-miR-4254	CLIP-seq
MIRT1463332	hsa-miR-4477a	CLIP-seq
MIRT1463344	hsa-miR-4633-3p	CLIP-seq
MIRT1463345	hsa-miR-4649-5p	CLIP-seq
MIRT1463346	hsa-miR-4650-5p	CLIP-seq
MIRT1463347	hsa-miR-548ad	CLIP-seq
MIRT1463348	hsa-miR-558	CLIP-seq
MIRT1463349	hsa-miR-641	CLIP-seq
MIRT1463321	hsa-miR-1205	CLIP-seq
MIRT1463322	hsa-miR-1233	CLIP-seq
MIRT1463323	hsa-miR-1286	CLIP-seq
MIRT1463324	hsa-miR-200b	CLIP-seq
MIRT1463325	hsa-miR-200c	CLIP-seq
MIRT1463326	hsa-miR-217	CLIP-seq
MIRT1463327	hsa-miR-3141	CLIP-seq
MIRT2360059	hsa-miR-3153	CLIP-seq
MIRT1463329	hsa-miR-429	CLIP-seq
MIRT1463330	hsa-miR-4418	CLIP-seq
MIRT2360060	hsa-miR-4426	CLIP-seq
MIRT1463331	hsa-miR-4459	CLIP-seq
MIRT2360061	hsa-miR-451b	CLIP-seq
MIRT2360062	hsa-miR-4647	CLIP-seq
MIRT1463345	hsa-miR-4649-5p	CLIP-seq
MIRT2360063	hsa-miR-4662b	CLIP-seq
MIRT1463334	hsa-miR-4722-5p	CLIP-seq
MIRT1463335	hsa-miR-4779	CLIP-seq
MIRT1463336	hsa-miR-509-3-5p	CLIP-seq
MIRT1463337	hsa-miR-509-5p	CLIP-seq
MIRT2653306	hsa-miR-1204	CLIP-seq
MIRT1463321	hsa-miR-1205	CLIP-seq
MIRT1463322	hsa-miR-1233	CLIP-seq
MIRT1463323	hsa-miR-1286	CLIP-seq
MIRT1463339	hsa-miR-1537	CLIP-seq
MIRT1463324	hsa-miR-200b	CLIP-seq
MIRT1463325	hsa-miR-200c	CLIP-seq
MIRT1463326	hsa-miR-217	CLIP-seq
MIRT2653307	hsa-miR-2277-3p	CLIP-seq
MIRT2653308	hsa-miR-3120-3p	CLIP-seq
MIRT2653309	hsa-miR-3135	CLIP-seq
MIRT1463327	hsa-miR-3141	CLIP-seq
MIRT2653310	hsa-miR-3150a-3p	CLIP-seq
MIRT2360059	hsa-miR-3153	CLIP-seq
MIRT2653311	hsa-miR-3175	CLIP-seq
MIRT1463328	hsa-miR-3942-5p	CLIP-seq
MIRT1463329	hsa-miR-429	CLIP-seq
MIRT1463330	hsa-miR-4418	CLIP-seq
MIRT2360060	hsa-miR-4426	CLIP-seq
MIRT1463331	hsa-miR-4459	CLIP-seq
MIRT1463332	hsa-miR-4477a	CLIP-seq
MIRT2360061	hsa-miR-451b	CLIP-seq
MIRT2360062	hsa-miR-4647	CLIP-seq
MIRT1463345	hsa-miR-4649-5p	CLIP-seq
MIRT2360063	hsa-miR-4662b	CLIP-seq
MIRT1463333	hsa-miR-4703-5p	CLIP-seq
MIRT1463334	hsa-miR-4722-5p	CLIP-seq
MIRT1463335	hsa-miR-4779	CLIP-seq
MIRT2653312	hsa-miR-4787-5p	CLIP-seq
MIRT2653313	hsa-miR-491-5p	CLIP-seq
MIRT1463336	hsa-miR-509-3-5p	CLIP-seq
MIRT1463337	hsa-miR-509-5p	CLIP-seq
MIRT1463347	hsa-miR-548ad	CLIP-seq
MIRT2653314	hsa-miR-939	CLIP-seq
MIRT2653306	hsa-miR-1204	CLIP-seq
MIRT1463321	hsa-miR-1205	CLIP-seq
MIRT1463322	hsa-miR-1233	CLIP-seq
MIRT1463323	hsa-miR-1286	CLIP-seq
MIRT1463324	hsa-miR-200b	CLIP-seq
MIRT1463325	hsa-miR-200c	CLIP-seq
MIRT1463326	hsa-miR-217	CLIP-seq
MIRT2653309	hsa-miR-3135	CLIP-seq
MIRT1463327	hsa-miR-3141	CLIP-seq
MIRT2653310	hsa-miR-3150a-3p	CLIP-seq
MIRT2360059	hsa-miR-3153	CLIP-seq
MIRT2653311	hsa-miR-3175	CLIP-seq
MIRT1463329	hsa-miR-429	CLIP-seq
MIRT1463330	hsa-miR-4418	CLIP-seq
MIRT2360060	hsa-miR-4426	CLIP-seq
MIRT1463331	hsa-miR-4459	CLIP-seq
MIRT2360061	hsa-miR-451b	CLIP-seq
MIRT2360062	hsa-miR-4647	CLIP-seq
MIRT1463345	hsa-miR-4649-5p	CLIP-seq
MIRT2360063	hsa-miR-4662b	CLIP-seq
MIRT1463334	hsa-miR-4722-5p	CLIP-seq
MIRT1463335	hsa-miR-4779	CLIP-seq
MIRT2653313	hsa-miR-491-5p	CLIP-seq
MIRT1463336	hsa-miR-509-3-5p	CLIP-seq
MIRT1463337	hsa-miR-509-5p	CLIP-seq
MIRT2653314	hsa-miR-939	CLIP-seq

Show/Hide all (5)

Transcription factor	Regulation	Reference
HIF1A	Unknown	21176881
REST	Repression	22684772
REST	Unknown	22159867
SOX11	Unknown	21124928
SOX2	Repression	20739473

Show/Hide all (52)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0000226	Process	Microtubule cytoskeleton organization	IBA
GO:0000226	Process	Microtubule cytoskeleton organization	IDA	34996871
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	IDA	34996871
GO:0005200	Function	Structural constituent of cytoskeleton	IEA
GO:0005515	Function	Protein binding	IPI	21044950, 24021646, 24374158, 28483977, 35271311
GO:0005525	Function	GTP binding	IBA
GO:0005525	Function	GTP binding	IDA	34996871
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	IDA	21525035
GO:0005874	Component	Microtubule	IEA
GO:0007017	Process	Microtubule-based process	IEA
GO:0007411	Process	Axon guidance	IBA
GO:0007411	Process	Axon guidance	IEA
GO:0007411	Process	Axon guidance	IMP	20074521
GO:0007411	Process	Axon guidance	ISS
GO:0015630	Component	Microtubule cytoskeleton	IDA	34996871
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0015630	Component	Microtubule cytoskeleton	IEA
GO:0030027	Component	Lamellipodium	IEA
GO:0030027	Component	Lamellipodium	ISS
GO:0030175	Component	Filopodium	IEA
GO:0030175	Component	Filopodium	ISS
GO:0030182	Process	Neuron differentiation	IEA
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0030426	Component	Growth cone	IEA
GO:0030426	Component	Growth cone	ISS
GO:0038007	Process	Netrin-activated signaling pathway	IEA
GO:0042277	Function	Peptide binding	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043025	Component	Neuronal cell body	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:0071944	Component	Cell periphery	IEA
GO:0072686	Component	Mitotic spindle	IDA
GO:0072686	Component	Mitotic spindle	IEA
GO:1990791	Process	Dorsal root ganglion development	IDA	28483977
GO:1990890	Function	Netrin receptor binding	IEA
GO:1990890	Function	Netrin receptor binding	IPI	28483977

MIM	HGNC	e!Ensembl
602661	20772	ENSG00000258947

Q13509

Protein name

Tubulin beta-3 chain (Tubulin beta-4 chain) (Tubulin beta-III)

Protein function

Tubulin is the major constituent of microtubules, protein filaments consisting of alpha- and beta-tubulin heterodimers (PubMed:34996871, PubMed:38305685, PubMed:38609661). Microtubules grow by the addition of GTP-tubulin dimers to the microtubul

PDB

5IJ0 , 5IJ9 , 5JCO , 6E7B , 6S8L , 6WSL , 7LXB , 7M18 , 7M20 , 7PJF , 7SJ7 , 7SJ8 , 7SJ9 , 7SJA , 7Z6S , 8VRJ , 8VRK , 8VT7

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: Expression is primarily restricted to central and peripheral nervous system. Greatly increased expression in most cancerous tissues. {ECO:0000269|PubMed:14736079, ECO:0000269|PubMed:20191564}.

Sequence

MREIVHIQAGQCGNQIGAKFWEVISDEHGIDPSGNYVGDSDLQLERISVYYNEASSHKYV
PRAILVDLEPGTMDSVRSGAFGHLFRPDNFIFGQSGAGNNWAKGHYTEGAELVDSVLDVV
RKECENCDCLQGFQLTHSLGGGTGSGMGTLLISKVREEYPDRIMNTFSVVPSPKVSDTVV
EPYNATLSIHQLVENTDETYCIDNEALYDICFRTLKLATPTYGDLNHLVSATMSGVTTSL
RFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTARGSQQYRALTVPELTQQMFDAKNMM
AACDPRHGRYLTVATVFRGRMSMKEVDEQMLAIQSKNSSYFVEWIPNNVKVAVCDIPPRG
LKMSSTFIGNSTAIQELFKRISEQFTAMFRRKAFLHWYTGEGMDEMEFTEAESNMNDLVS
EYQQYQDATAEEEGEMYEDDEEESEAQGPK

Sequence length

450

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 HSP90 chaperone cycle for steroid hormone receptors (SHR) Recruitment of NuMA to mitotic centrosomes Recycling pathway of L1 Hedgehog 'off' state Cilium Assembly 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 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

151

Show/Hide Causal Diseases (13)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal cerebral morphology	Likely pathogenic; Pathogenic	rs2151092804, rs1057521924	RCV002275459 RCV002275022
Brain malformation	Likely pathogenic; Pathogenic	rs1131691895	RCV002264946
Complex cortical dysplasia with other brain malformations 1	Likely pathogenic; Pathogenic	rs2151092282, rs777149755, rs2151092964, rs587784505, rs2544627741, rs2544627057, rs864321715, rs864321717, rs267607164, rs267607165, rs878853279, rs747480526, rs886039497, rs886041459, rs1057517908 View all (8 more)	RCV001775244 RCV001775403 RCV002226820 RCV000147851 RCV005869777 RCV002291127 RCV005603611 RCV001804943 RCV004689411 RCV000194090 RCV000225239 RCV003223515 RCV000023203 RCV005895444 RCV001526950 RCV001843359 RCV000824822 RCV000023202 RCV000023204 RCV000023205 RCV002056825 RCV004819228 RCV001198782 RCV001252385
Congenital fibrosis of extraocular muscles	Likely pathogenic; Pathogenic	rs1131691895	RCV002264946
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement	Likely pathogenic; Pathogenic	rs587784505, rs864321714, rs864321715, rs864321716, rs864321717, rs267607162, rs267607163, rs267607164, rs267607165, rs747480526, rs1057517908, rs1555625571	RCV000203608 RCV000203610 RCV000203606 RCV000203607 RCV000203611 RCV000007378 RCV000007379 RCV000007380 RCV000007381 RCV000007382 RCV005860056 RCV004783779 RCV004819228
Intellectual disability	Likely pathogenic; Pathogenic	rs587784505	RCV005625323
Lissencephaly	Likely pathogenic	rs2030427823	RCV001291309
Male infertility with azoospermia or oligozoospermia due to single gene mutation	Likely pathogenic	rs2030421919	RCV003991633
See cases	Likely pathogenic	rs2544627741	RCV002287664
Spastic ataxia	Likely pathogenic	rs1210717639	RCV001647245
TUBB3-related disorder	Likely pathogenic; Pathogenic	rs587784505, rs864321715, rs864321716, rs864321717, rs267607165, rs2030416703, rs1057517908	RCV004724928 RCV004554750 RCV004553109 RCV005863045 RCV004547462 RCV004550588 RCV001788210
TUBB3-related tubulinopathy	Likely pathogenic; Pathogenic	rs864321715, rs864321716, rs267607164, rs1057521924	RCV003982950 RCV001270742 RCV003982830 RCV004786699
TUBB3-Releated Disorders	Pathogenic	rs267607165	RCV001267650

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Arrhythmogenic right ventricular dysplasia 8	Conflicting classifications of pathogenicity	rs777771368	RCV001849564
Congenital fibrosis of extraocular muscles type 1	not provided	rs1344725531	RCV001844430
Congenital Fibrosis of the Extraocular Muscles 1B	not provided	rs1344725531	RCV001844430
Developmental disorder	Conflicting classifications of pathogenicity	rs1555625363	RCV003126774
Malignant tumor of esophagus	Benign; Likely benign	rs199842533	RCV005900009
Martsolf syndrome 1	Uncertain significance	rs2544627987	RCV002305666
Neurodevelopmental disorder	Uncertain significance	rs2544628188	RCV003389173
Prostate cancer	Uncertain significance	rs864622009	RCV000206304
X-linked hydrocephalus syndrome	Uncertain significance	rs2144399284	RCV001723250

Show/Hide Text Mining Associations (125)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abducens Nerve Diseases	Associate	20393110
Adenocarcinoma	Associate	25921119
Alport Syndrome Mental Retardation Midface Hypoplasia and Elliptocytosis	Associate	23378218
Astrocytoma	Associate	12946225
Basal Ganglia Diseases	Associate	34652576, 40179460
Blepharoptosis	Associate	20393110
Brain Diseases	Associate	39643435
Brain Injuries Traumatic	Associate	27530814
Brain Neoplasms	Associate	29022485
Brain Stem Neoplasms	Associate	26130693
Breast Neoplasms	Associate	15923415, 18796406, 20029418, 21390496, 23218766, 31795964, 32848091, 33832110
Carcinoma Large Cell	Associate	34453496
Carcinoma Non Small Cell Lung	Associate	10362110, 15749640, 19218769, 20087230, 22439756, 23803067, 24135250, 24935362, 25769882, 25921119, 29439899, 33099907, 37646890, 37774051
Carcinoma Ovarian Epithelial	Associate	26198101
Carcinoma Papillary	Associate	20673976
Carcinoma Renal Cell	Stimulate	29022485
Carcinoma Renal Cell	Associate	37919386
Carcinoma Squamous Cell	Associate	26165688, 34659450
Carcinosarcoma	Associate	22209775, 32114514
Cardiomyopathy Restrictive	Associate	24612975, 36174041
Central Nervous System Vascular Malformations	Associate	28299356, 34652576
Cerebellar Diseases	Associate	26130693, 34652576
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules	Associate	26639658
Colonic Neoplasms	Associate	27188792
Colorectal Neoplasms	Associate	19287064, 26553611, 27188792, 27771732, 28949378
Colorectal Neoplasms	Stimulate	30583584
Congenital Abnormalities	Associate	23321512
Congenital Cranial Dysinnervation Disorders	Associate	23378218, 25500261, 36494820
congenital fibrosis of the extraocular muscles	Associate	12181522, 20393110, 20829227, 25559402, 26639658, 28299356, 31302631, 31541710, 33649541, 33806565, 34652576, 36494820
Contracture	Associate	34652576
Corneal Dystrophy Band Shaped	Associate	31541710
COVID 19	Associate	37291167
Cranial Nerve Diseases	Associate	26639658
Demyelinating Diseases	Associate	33389762
Developmental Disabilities	Associate	23378218, 26639658, 34863918, 39643435
Duane Retraction Syndrome	Associate	36494820
Endocrine System Diseases	Associate	25559402
Esophageal Neoplasms	Associate	29022485
Exotropia	Associate	20393110, 34652576
Facial Dysmorphism with Multiple Malformations	Associate	34652576
Facial Paralysis	Associate	34652576
Familial cyclic vomiting syndrome	Associate	23378218
Fibrosis of Extraocular Muscles Congenital 3B	Associate	20393110, 29110737
Gait Ataxia	Associate	34652576
Gait Disorders Neurologic	Associate	34652576
Glioblastoma	Associate	12946225, 25244496, 27579614
Growth Disorders	Associate	34863918
Gyrate Atrophy	Associate	26639658
Hearing Disorders	Associate	34652576
Hyperopia	Associate	34863918
Hyperplasia	Associate	24232867
Hypogonadism	Associate	23378218, 25559402, 34652576
Hypoxia	Stimulate	23364970, 25244496
Hypoxia	Associate	24005572
Hypoxia Brain	Stimulate	25244496
Idiopathic Pulmonary Fibrosis	Associate	27586205
Inflammation	Associate	30583584
Intellectual Disability	Associate	23378218, 25559402, 26639658, 30272120, 34652576
Intrauterine Growth Retardation Metaphyseal Dysplasia Adrenal Hypoplasia Congenita And Genital Anomalies	Associate	34863918
Kallmann Syndrome	Associate	23378218, 25559402, 31628846, 34652576
Leiomyosarcoma	Associate	30034996
Leukoencephalopathies	Associate	30272120
Lissencephaly	Associate	26564436
Lung Neoplasms	Stimulate	29022485
Lymphatic Metastasis	Associate	25921119, 33832110
Lymphoma Follicular	Associate	24232867
Malformations of Cortical Development	Associate	20829227, 26130693, 26639658, 28299356, 32570172, 33649541, 34652576
Malformations of Cortical Development Group II	Associate	20829227
Medulloblastoma	Associate	29869738
Melanoma	Associate	18086570, 19122647, 29022485
Melanoma Cutaneous Malignant	Associate	28024114
Microcephaly	Associate	34863918
Mobius Syndrome	Associate	23378218, 28299356
monocular elevation deficiency	Associate	31302631
Muscle Neoplasms	Associate	23378218
Muscle Weakness	Associate	23378218, 25559402, 34652576
Muscular Atrophy	Associate	20393110
Nasopharyngeal Carcinoma	Associate	29747653
Neoplasm Metastasis	Associate	30054102, 32121295, 32848091
Neoplasms	Associate	11300931, 15923415, 18505052, 18796406, 19218769, 19287064, 19468031, 21045157, 21289518, 23803067, 24005572, 25921119, 26165688, 26198101, 27188792 View all (5 more)
Neoplasms Cystic Mucinous and Serous	Stimulate	23585021
Neoplasms Squamous Cell	Associate	26165688
Neoplasms Unknown Primary	Associate	18505052
Nerve Degeneration	Associate	33251771
Neurofibroma	Associate	18796406
Neurofibrosarcoma	Associate	18796406
Neurologic Manifestations	Associate	20829227, 22591407
Nevus	Inhibit	28024114
Nystagmus Pathologic	Associate	26639658
Ocular Motility Disorders	Associate	20829227
Odontoma	Associate	27586205
Olfaction Disorders	Associate	23378218, 25559402
Ophthalmoplegia	Associate	20393110, 28299356, 34652576
Optic Nerve Hypoplasia	Associate	20393110
Oropharyngeal Neoplasms	Associate	25380690
Osteoarthritis	Associate	37291167
Ovarian Diseases	Associate	22209775
Ovarian Neoplasms	Associate	10362110, 22684772, 23394580, 24005572, 26198101, 30570863, 32951896, 37718345
Pancreatic Neoplasms	Stimulate	29022485
Pancreatic Neoplasms	Associate	34192548
Peripheral Nervous System Diseases	Associate	23378218, 34652576, 39643435
Polyneuropathies	Associate	23378218, 33389762
Pontocerebellar Hypoplasia	Associate	20829227
Prostatic Neoplasms	Associate	31412591
Prostatic Neoplasms Castration Resistant	Associate	31658275, 34318630, 37165308
Prostatitis	Associate	21045157
Ptosis Hereditary Congenital 2	Associate	34652576
Sarcoma	Associate	34294833
Schizophrenia	Associate	34667143
Squamous Cell Carcinoma of Head and Neck	Associate	19468031, 35945754
Stomach Neoplasms	Associate	23364970, 24053422, 28056823
Strabismus	Associate	23378218, 34863918, 39643435
Syndrome	Associate	25559402
Thymic epithelial tumor	Associate	21289518
Thyroid Cancer Papillary	Associate	35277656
Tooth Abnormalities	Associate	20829227
Torticollis	Associate	26639658
Tracheomalacia	Associate	23378218
Tuberculosis Multidrug Resistant	Associate	27284014
Urethral Neoplasms	Associate	31662559
Urinary Bladder Neoplasms	Associate	29941343
Uterine Cervical Neoplasms	Associate	36973995
Uveal melanoma	Associate	18385798
Vocal Cord Paralysis	Associate	23378218
Vomiting	Associate	34652576

TUBB3 (tubulin beta 3 class III)