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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	347733
Gene name	Tubulin beta 2B class IIb
Gene symbol	TUBB2B
Synonyms (NCBI Gene)	CDCBM7PMGYSAbA506K6.1
Chromosome	6
Chromosome location	6p25.2
Summary	The protein encoded by this gene is a beta isoform of tubulin, which binds GTP and is a major component of microtubules. This gene is highly similar to TUBB2A and TUBB2C. Defects in this gene are a cause of asymmetric polymicrogyria. [provided by RefSeq,

Show/Hide all (23)

SNP ID	Visualize variation	Clinical significance	Consequence
rs137853194	A>G	Pathogenic	Missense variant, coding sequence variant
rs137853195	A>G	Pathogenic	Missense variant, coding sequence variant
rs137853196	A>G	Pathogenic	Missense variant, coding sequence variant
rs201922441	C>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs397514567	C>T	Pathogenic	Missense variant, coding sequence variant
rs397514568	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs397514569	A>G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs398122369	C>T	Pathogenic	Missense variant, coding sequence variant
rs587784498	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs587784502	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs777598117	G>A	Benign, likely-pathogenic	Missense variant, coding sequence variant
rs797046075	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs878853284	C>A	Pathogenic	Coding sequence variant, missense variant
rs1057517932	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1057520391	G>A	Pathogenic	Coding sequence variant, missense variant
rs1057520787	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1064794314	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1135401758	C>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1554126886	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1554126925	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1554126964	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1561826759	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1581525728	G>A	Likely-pathogenic	Missense variant, coding sequence variant

Show/Hide all (84)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022690	hsa-miR-124-3p	Microarray	18668037
MIRT023769	hsa-miR-1-3p	Microarray	18668037
MIRT048981	hsa-miR-92a-3p	CLASH	23622248
MIRT045115	hsa-miR-186-5p	CLASH	23622248
MIRT040215	hsa-miR-615-3p	CLASH	23622248
MIRT037235	hsa-miR-877-5p	CLASH	23622248
MIRT2360056	hsa-miR-4662a-5p	CLIP-seq
MIRT2360057	hsa-miR-4709-5p	CLIP-seq
MIRT2360058	hsa-miR-885-5p	CLIP-seq
MIRT2462666	hsa-miR-2964a-5p	CLIP-seq
MIRT2462667	hsa-miR-3613-3p	CLIP-seq
MIRT2462668	hsa-miR-520d-5p	CLIP-seq
MIRT2462669	hsa-miR-524-5p	CLIP-seq
MIRT2653274	hsa-miR-1228	CLIP-seq
MIRT2653275	hsa-miR-154	CLIP-seq
MIRT2653276	hsa-miR-29a	CLIP-seq
MIRT2653277	hsa-miR-29b	CLIP-seq
MIRT2653278	hsa-miR-29c	CLIP-seq
MIRT2653279	hsa-miR-3124-3p	CLIP-seq
MIRT2653280	hsa-miR-3663-3p	CLIP-seq
MIRT2653281	hsa-miR-3667-3p	CLIP-seq
MIRT2653282	hsa-miR-3943	CLIP-seq
MIRT2653283	hsa-miR-411	CLIP-seq
MIRT2653284	hsa-miR-4436b-5p	CLIP-seq
MIRT2653285	hsa-miR-4449	CLIP-seq
MIRT2653286	hsa-miR-4532	CLIP-seq
MIRT2653287	hsa-miR-4709-3p	CLIP-seq
MIRT2360057	hsa-miR-4709-5p	CLIP-seq
MIRT2653288	hsa-miR-4738-5p	CLIP-seq
MIRT2653289	hsa-miR-4755-3p	CLIP-seq
MIRT2653290	hsa-miR-548a-5p	CLIP-seq
MIRT2653291	hsa-miR-548ab	CLIP-seq
MIRT2653292	hsa-miR-548ak	CLIP-seq
MIRT2653293	hsa-miR-548b-5p	CLIP-seq
MIRT2653294	hsa-miR-548c-5p	CLIP-seq
MIRT2653295	hsa-miR-548d-5p	CLIP-seq
MIRT2653296	hsa-miR-548h	CLIP-seq
MIRT2653297	hsa-miR-548i	CLIP-seq
MIRT2653298	hsa-miR-548j	CLIP-seq
MIRT2653299	hsa-miR-548k	CLIP-seq
MIRT2653300	hsa-miR-548l	CLIP-seq
MIRT2653301	hsa-miR-548w	CLIP-seq
MIRT2653302	hsa-miR-548y	CLIP-seq
MIRT2653303	hsa-miR-559	CLIP-seq
MIRT2653304	hsa-miR-591	CLIP-seq
MIRT2653305	hsa-miR-671-5p	CLIP-seq
MIRT2653274	hsa-miR-1228	CLIP-seq
MIRT2694491	hsa-miR-1238	CLIP-seq
MIRT2653275	hsa-miR-154	CLIP-seq
MIRT2653276	hsa-miR-29a	CLIP-seq
MIRT2653277	hsa-miR-29b	CLIP-seq
MIRT2653278	hsa-miR-29c	CLIP-seq
MIRT2653279	hsa-miR-3124-3p	CLIP-seq
MIRT2653280	hsa-miR-3663-3p	CLIP-seq
MIRT2653281	hsa-miR-3667-3p	CLIP-seq
MIRT2653282	hsa-miR-3943	CLIP-seq
MIRT2653283	hsa-miR-411	CLIP-seq
MIRT2694492	hsa-miR-4315	CLIP-seq
MIRT2653284	hsa-miR-4436b-5p	CLIP-seq
MIRT2653285	hsa-miR-4449	CLIP-seq
MIRT2653286	hsa-miR-4532	CLIP-seq
MIRT2694493	hsa-miR-4640-3p	CLIP-seq
MIRT2694494	hsa-miR-4691-5p	CLIP-seq
MIRT2653287	hsa-miR-4709-3p	CLIP-seq
MIRT2360057	hsa-miR-4709-5p	CLIP-seq
MIRT2653288	hsa-miR-4738-5p	CLIP-seq
MIRT2653289	hsa-miR-4755-3p	CLIP-seq
MIRT2694495	hsa-miR-4790-5p	CLIP-seq
MIRT2653290	hsa-miR-548a-5p	CLIP-seq
MIRT2653291	hsa-miR-548ab	CLIP-seq
MIRT2653292	hsa-miR-548ak	CLIP-seq
MIRT2653293	hsa-miR-548b-5p	CLIP-seq
MIRT2653294	hsa-miR-548c-5p	CLIP-seq
MIRT2653295	hsa-miR-548d-5p	CLIP-seq
MIRT2653296	hsa-miR-548h	CLIP-seq
MIRT2653297	hsa-miR-548i	CLIP-seq
MIRT2653298	hsa-miR-548j	CLIP-seq
MIRT2653299	hsa-miR-548k	CLIP-seq
MIRT2653300	hsa-miR-548l	CLIP-seq
MIRT2653301	hsa-miR-548w	CLIP-seq
MIRT2653302	hsa-miR-548y	CLIP-seq
MIRT2653303	hsa-miR-559	CLIP-seq
MIRT2653304	hsa-miR-591	CLIP-seq
MIRT2653305	hsa-miR-671-5p	CLIP-seq

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:0001764	Process	Neuron migration	IBA
GO:0001764	Process	Neuron migration	IMP	19465910
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	21078624
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: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:0007017	Process	Microtubule-based process	IMP	26732629
GO:0007399	Process	Nervous system development	IEA
GO:0015630	Component	Microtubule cytoskeleton	IDA	23001566, 28013290
GO:0021987	Process	Cerebral cortex development	IEA
GO:0045171	Component	Intercellular bridge	IDA
GO:0045171	Component	Intercellular bridge	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0046982	Function	Protein heterodimerization activity	IDA	23001566, 26732629, 28013290
GO:0050804	Process	Modulation of chemical synaptic transmission	IEA
GO:0072686	Component	Mitotic spindle	IDA
GO:0072686	Component	Mitotic spindle	IEA
GO:0098685	Component	Schaffer collateral - CA1 synapse	IEA
GO:1902669	Process	Positive regulation of axon guidance	IMP	23001566
GO:1990403	Process	Embryonic brain development	IEA

MIM	HGNC	e!Ensembl
612850	30829	ENSG00000137285

Q9BVA1

Protein name

Tubulin beta-2B 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 (PubMed:23001566, PubMed:26732629, PubMed:28013290). Microtubules grow by the

PDB

6E7C , 7ZCW

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: High expression in brain. {ECO:0000269|PubMed:20191564}.

Sequence

MREIVHIQAGQCGNQIGAKFWEVISDEHGIDPTGSYHGDSDLQLERINVYYNEATGNKYV
PRAILVDLEPGTMDSVRSGPFGQIFRPDNFVFGQSGAGNNWAKGHYTEGAELVDSVLDVV
RKESESCDCLQGFQLTHSLGGGTGSGMGTLLISKIREEYPDRIMNTFSVMPSPKVSDTVV
EPYNATLSVHQLVENTDETYCIDNEALYDICFRTLKLTTPTYGDLNHLVSATMSGVTTCL
RFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTSRGSQQYRALTVPELTQQMFDSKNMM
AACDPRHGRYLTVAAIFRGRMSMKEVDEQMLNVQNKNSSYFVEWIPNNVKTAVCDIPPRG
LKMSATFIGNSTAIQELFKRISEQFTAMFRRKAFLHWYTGEGMDEMEFTEAESNMNDLVS
EYQQYQDATADEQGEFEEEEGEDEA

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 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

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Complex cortical dysplasia with other brain malformations 7	Likely pathogenic; Pathogenic	rs2113818913, rs1757271243, rs137853194, rs137853195, rs137853196, rs2113819240, rs2113819019, rs587784498, rs587784502, rs2533617345, rs878853284, rs1468452245, rs2533617289, rs2533617485, rs1403441857 View all (11 more)	RCV001353172 RCV002246443 RCV000000454 RCV000000455 RCV000000456 RCV002221843 RCV002226852 RCV000147833 RCV000147845 RCV002287296 RCV000225257 RCV003326042 RCV003883273 RCV004555154 RCV004556127 RCV004595284 RCV000496148 RCV000503116 RCV000503576 RCV000032932 RCV000032934 RCV000853391 RCV000985023 RCV003153244 RCV001072151 RCV000074466 RCV001253089
Congenital bilateral perisylvian syndrome	Pathogenic	rs2533617345	RCV003445163
Lissencephaly	Likely pathogenic; Pathogenic	rs1554126886, rs398122369, rs1757279879	RCV001291305 RCV001291304 RCV001291307
Tubulinopathy	Likely pathogenic; Pathogenic	rs2113818881, rs2533617634	RCV003985102 RCV003985151

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Complex cortical dysplasia with other brain malformations 1	not provided; Uncertain significance	rs2113820411, rs1581525702	RCV001825335 RCV000791091
TUBB2B-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	rs201922441, rs2533617211, rs2533617544, rs2533617173, rs780003494, rs2533617490, rs1057520391	RCV003398792 RCV003406000 RCV003405844 RCV003983377 RCV003934559 RCV003951683 RCV003401416
TUBB2B-related tubulinopathy	Uncertain significance	rs2113819824	RCV001797034

Show/Hide Text Mining Associations (38)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Agenesis of Cerebellar Vermis	Associate	34592644
Agenesis of Corpus Callosum	Associate	22591407, 25059107, 30704335
Basal Ganglia Diseases	Associate	22591407, 34592644, 40179460
beta Thalassemia	Associate	30704335
Carcinoma Renal Cell	Associate	32883362
Central Nervous System Vascular Malformations	Associate	22591407
Cerebellar Diseases	Associate	26130693, 34592644
Cerebellar Hypoplasia	Associate	26732629
Cerebral Ventricle Neoplasms	Associate	34592644
Ciliary Dyskinesia With Transposition Of Ciliary Microtubules	Associate	28013290
Colorectal Neoplasms	Associate	32453965
Congenital Cranial Dysinnervation Disorders	Associate	23001566
congenital fibrosis of the extraocular muscles	Associate	23001566, 33649541
Epilepsy	Associate	33082561
Familial schizencephaly	Associate	22591407
Hereditary leiomyomatosis and renal cell cancer	Associate	24633193
Hodgkin Disease	Associate	24633193
Kidney Neoplasms	Associate	36189312
Language Development Disorders	Associate	34592644
Lissencephaly	Associate	22333901, 25059107, 26564436
Malformations of Cortical Development	Associate	22333901, 22591407, 26130693, 30704335, 32570172, 33082561, 33649541, 34592644
Melanoma	Associate	34826184
Mental Disorders	Associate	34638726
Microcephaly	Associate	22591407, 26732629
Motor Skills Disorders	Associate	34592644
Neuroblastoma	Associate	31432180
Neurologic Manifestations	Associate	22591407
Oculomotor Nerve Injuries	Associate	22591407
Optic Nerve Hypoplasia	Associate	33806565
Osteoporosis	Associate	35757478
Pena Shokeir syndrome type 1	Associate	26732629
Periventricular Nodular Heterotopia	Associate	25059107
Polymicrogyria	Associate	22333901, 22591407, 23001566, 25059107, 37486637
Polymicrogyria Asymmetric	Associate	19465910
Prostatic Neoplasms	Associate	33734457
Spinal Cord Diseases	Associate	26732629
Spinocerebellar Ataxia 29	Associate	30704335
Syndrome	Associate	28013290

TUBB2B (tubulin beta 2B class IIb)