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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TUBB2B Gene

protein-coding GIFtS: 59
GCID: GC06M003224

tubulin, beta 2B class IIb

(Previous names: tubulin, beta 2B )

Explore 11 diseases affiliated with
TUBB2B via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Tubulin, Beta 2B Class IIb¹ ²		PMGYSA²
BA506K6.1¹		Class II Beta-Tubulin Isotype²
DKFZp566F223¹		Class IIb Beta-Tubulin²
MGC8685¹		Tubulin Beta-2B Chain²
Tubulin, Beta 2B¹		Tubulin, Beta Polypeptide Paralog²

External Ids:	HGNC: 30829¹	Entrez Gene: 347733²	Ensembl: ENSG00000137285⁷	OMIM: 612850⁵	UniProtKB: Q9BVA1³

Export aliases for TUBB2B gene to outside databases

Previous GC identifers: GC06M003172 GC06M003173 GC06M003102

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TUBB2B:

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, Mar 2010)

UniProtKB/Swiss-Prot: TBB2B_HUMAN, Q9BVA1

Function: Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on

the beta chain and one at a non-exchangeable site on the alpha chain (By similarity). TUBB2B is implicated in neuronal

migration

summary for TUBB2B:

Microtubules are cylindrical tubes of 20-25 nm in diameter. They are composed of protofilaments which are in

turn composed of alpha- and beta-tubulin polymers. Each microtubule is polarized, at one end alpha-subunits

are exposed (-) and at the other beta-subunits are exposed (+). Microtubules act as a scaffold to determine

cell shape, and provide a backbone for cell organelles and vesicles to move on, a process that requires

motor proteins. The major microtubule motor proteins are kinesin, which generally moves towards the (+) end

of the microtubule, and dynein, which generally moves towards the (-) end. Microtubules also form the

spindle fibers for separating chromosomes during mitosis.

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000006.11 NC_018917.1 NT_007592.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TUBB2B gene promoter:
C/EBPbeta MyoD Olf-1 HNF-3beta Arnt Gfi-1 IRF-2 Cart-1 Pax-4a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TUBB2B promoter sequence

Search SABiosciences Chromatin IP Primers for TUBB2B

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TUBB2B

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p25 Ensembl cytogenetic band: 6p25.2 HGNC cytogenetic band: 6p25.2

TUBB2B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TUBB2B gene location

GeneLoc information about chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06M003224: view genomic region (about GC identifiers)

Start:	3,224,495 bp from pter	End:	3,231,964 bp from pter
Size:	7,470 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TBB2B_HUMAN, Q9BVA1 (See protein sequence)

Recommended Name: Tubulin beta-2B chain

Size: 445 amino acids; 49953 Da

Subunit: Dimer of alpha and beta chains (By similarity)

Subcellular location: Cytoplasm, cytoskeleton (By similarity)

Secondary accessions: A8K068

Explore the universe of human proteins at neXtProt for TUBB2B: NX_Q9BVA1

Post-translational modifications:

Some glutamate residues at the C-terminus are polyglutamylated. This modification occurs exclusively on glutamate

residues and results in polyglutamate chains on the gamma-carboxyl group. Also monoglycylated but not polyglycylated

due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin incorporated into

axonemes (cilia and flagella) whereas glutamylation is prevalent in neuronal cells, centrioles, axonemes, and the

mitotic spindle. Both modifications can coexist on the same protein on adjacent residues, and lowering glycylation

levels increases polyglutamylation, and reciprocally. The precise function of such modifications is still unclear but

they regulate the assembly and dynamics of axonemal microtubules (Probable)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9BVA1

TUBB2B Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_821080.1

ENSEMBL proteins:

ENSP00000259818

Reactome Protein details: Q9BVA1
Human Recombinant Protein Products for TUBB2B:

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Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IDA	--
GO:0005874	microtubule	IDA	--
GO:0005886	plasma membrane	IDA	--
GO:0015630	microtubule cytoskeleton	IDA	--

TUBB2B for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TUBB2B for domains About GeneDecksing

5/8 InterPro domains/families (see all 8):

IPR002453 Beta_tubulin

IPR000217 Tubulin

IPR003008 Tubulin_FtsZ_GTPase

IPR023123 Tubulin_C

IPR008280 Tub_FtsZ_C

Graphical View of Domain Structure for InterPro Entry Q9BVA1

ProtoNet protein and cluster: Q9BVA1

1 Blocks protein family: IPB002453 Beta tubulin

UniProtKB/Swiss-Prot: TBB2B_HUMAN, Q9BVA1

Similarity: Belongs to the tubulin family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: TBB2B_HUMAN, Q9BVA1

Function: Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on

the beta chain and one at a non-exchangeable site on the alpha chain (By similarity). TUBB2B is implicated in neuronal

migration

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003924	GTPase activity	IEA	--
GO:0005198	structural molecule activity	IEA	--
GO:0005515	protein binding	IPI	--
GO:0005525	GTP binding	IEA	--
GO:0042277	peptide binding	--	--

TUBB2B for ontologies About GeneDecksing

Phenotypes:
3 GenomeRNAi human phenotypes for TUBB2B:

Decreased cilium length after

Increased 8N DNA content

Increased number of mitotic ce

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for TUBB2B

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In Situ Assay
Products:

Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for TUBB2B

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/28 super-pathways (see all 28) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

M Phase

M Phase	1.00	Mitotic Anaphase	0.85
Mitotic M-M/G1 phases	0.88	Separation of Sister Chromatids	0.80
Mitotic Metaphase and Anaphase	0.85

Recruitment of mitotic centrosome proteins and complexes

	Recruitment of mitotic centrosome proteins and complexes	1.00			G2/M Transition	0.83
	Centrosome maturation	1.00			Mitotic G2-G2/M phases	0.81

Axon guidance

	Axon guidance	1.00			L1CAM interactions	0.39
	Developmental Biology	0.69			Recycling pathway of L1	0.15

Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane

	Microtubule-dependent trafficking of connexons from Golgi to the plasma membrane	1.00			Post-chaperonin tubulin folding pathway	0.67
	Transport of connexons to the plasma membrane	0.93			Recruitment of NuMA to mitotic centrosomes	0.50

Formation of tubulin folding intermediates by CCT/TriC

	Formation of tubulin folding intermediates by CCT/TriC	1.00			Prefoldin mediated transfer of substrate to CCT/TriC	0.70
	Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding	0.74

Pathway sources
See GeneCards unified pathways
Show all pathways

5/9 EMD Millipore Pathways for TUBB2B (see all 9)

	Cytoskeleton remodeling Neurofilaments
	Cytoskeleton remodeling Slit-Robo signaling
	Cytoplasmic microtubules
	Cytoskeleton remodeling Reverse signaling by ephrin B
	Cytoskeleton remodeling Keratin filaments

5/10 GeneGo (Thomson Reuters) Pathways for TUBB2B (see all 10)

	Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway
	Cell cycle Spindle assembly and chromosome separation
	Regulation of CFTR activity (norm and CF)
	Neurophysiological process Receptor-mediated axon growth repulsion
	Cytoskeleton remodeling Keratin filaments

2 BioSystems Pathways for TUBB2B

	Parkin-Ubiquitin Proteasomal System pathway
	Pathogenic Escherichia coli infection

5/41 Reactome Pathways for TUBB2B (see all 41)

	L1CAM interactions
	Mitotic Prometaphase
	Membrane Trafficking
	Protein folding
	Recruitment of mitotic centrosome proteins and complexes

3 Kegg Pathways (Kegg details for TUBB2B):

	Phagosome
	Gap junction
	Pathogenic Escherichia coli infection

TUBB2B for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for TUBB2B

STRING Interaction Network Preview (showing 5 interactants - click image to see 21)

5/88 Interacting proteins for TUBB2B (Q9BVA1^{1, 2, 3} ENSP00000259818⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 88)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
CSNK2B	P67870²^,³	MINT-8253737 I2D: score=5
ANXA7	P20073²^,³	MINT-8248869 I2D: score=2
BID	P55957²^,³	MINT-8249586 I2D: score=2
C8orf33	Q9H7E9²^,³	MINT-8250556 I2D: score=2
CDKN1A	P38936²^,³	MINT-8252373 I2D: score=2

About this table

Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001764	neuron migration	IMP	19465910
GO:0006457	protein folding	TAS	--
GO:0007018	microtubule-based movement	IEA	--
GO:0007067	mitosis	--	--
GO:0030182	neuron differentiation	--	--

TUBB2B for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Compounds for TUBB2B available from Tocris Bioscience About this table

Compound	Action	CAS #
XRP44X	Ras-Net pathway inhibitor	[729605-21-4]
Taxol	Promotes assembly and inhibits disassembly of microtubules	[33069-62-4]
Vincristine sulfate	Disrupts microtubules	[2068-78-2]
Vinblastine sulfate	Disrupts microtubules	[143-67-9]
Nocodazole	Microtubule inhibitor	[31430-18-9]

1 HMDB Compound for TUBB2B About this table

Compound	Synonyms	CAS #	PubMed Ids
Guanosine triphosphate	5'-GTP (see all 10)	86-01-1	--

1 DrugBank Compound for TUBB2B About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
2-MERCAPTO-N-[1,2,3,10-TETRAMETHOXY-9-OXO-5,6,7,9-TETRAHYDRO-BENZO[A]HEPTALEN-7-YL]ACETAMIDE	--	--	target	--	10592235

Search CenterWatch for drugs/clinical trials and news about TUBB2B / TBB2B

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for TUBB2B gene:

NM_178012.4

Unigene Cluster for TUBB2B:

Tubulin, beta 2B class IIb

Hs.300701 [show with all ESTs]

Unigene Representative Sequence: NM_178012

2 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000259818(uc003mvg.3) ENST00000473006

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Additional cDNA sequence:

AF035316.1 AK289433.1 AK297568.1 AL050056.1 BC001352.2 BC063610.1 BC127872.1 BC127874.1

BT019930.1 CR456788.1

24/76 DOTS entries (see all 76):

DT.100893165 DT.100893069 DT.100893270 DT.95152292 DT.100893246 DT.100893200 DT.100892974 DT.100893128

DT.100893195 DT.121379966 DT.92067601 DT.100893216 DT.100893034 DT.100893275 DT.121380188 DT.121379977

DT.100769009 DT.97869229 DT.100893164 DT.100059854 DT.121379940 DT.95152294 DT.100893045 DT.100893166

24/2209 AceView cDNA sequences (see all 2209):

BX419196 BU845152 BF529316 AL534608 CR590416 BQ068398 BU848631 CR606200

AL536064 CR624334 CR612639 AL537263 BX460090 BG112463 AL535350 T28788

BQ066173 CR609087 CR594033 BF340189 BX461216 AL537349 AL537783 AW498983

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for TUBB2B About this scheme

ExUns:	1	^	2a	·	2b	^	3a	·	3b	^	4a	·	4b
SP1:			-
SP2:
SP3:			-

ECgene alternative splicing isoforms for TUBB2B

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TUBB2B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GTCTACTTTA

About this image

TUBB2B expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

Line H7 (WA07) (Embryonic Stem Cell)

Early Embryo, Inner Cell Mass

Endoderm-like cells (Generation of hepato...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See TUBB2B Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TUBB2B

SOURCE GeneReport for Unigene cluster: Hs.300701

UniProtKB/Swiss-Prot: TBB2B_HUMAN, Q9BVA1

Tissue specificity: High expression in brain

SABiosciences Expression via Pathway-Focused PCR Array including TUBB2B:

Gap Junctions in human mouse rat

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for TUBB2B gene from 8/20 species (see all 20) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	E1C520_CHICK⁶	Uncharacterized protein	99(a)	1 ↔ 1	2(67483545-67486745)
lizard (Anolis carolinensis)	Reptilia	--	--	100(a)	1 ↔ 1	GL343247.1(1065529-1078179)
tropical clawed frog (Xenopus tropicalis)	Amphibia	MGC75628²	hypothetical protein MGC75628	82.34(n)		BC064166.1
zebrafish (Danio rerio)	Actinopterygii	tubb2²	tubulin, beta, 2	85.3(n)		336681 BC056533.1
fruit fly (Drosophila melanogaster)	Insecta	betaTub85D¹	beta-Tubulin at 85D	82.43(n) 95.72(a)		41124 NM_079566.4 NP_524290.2
worm (Caenorhabditis elegans)	Secernentea	mec-7⁶ tbb-6⁶	Tubulin, Beta family member (tbb-6)	93(a) 58(a)	1 ↔ many possible ortholog	X(7774805-7776631) V(12261785-12263349)
thale cress (Arabidopsis thaliana)	eudicotyledons	TUB6¹	tubulin beta-6 chain	72.22(n) 85.81(a)		831100 NM_121263.3 NP_196786.1
rice (Oryza sativa)	Liliopsida	Os05g0413200¹	hypothetical protein	79.73(n) 86.1(a)		4338790 NM_001062081.1 NP_001055546.1

ENSEMBL Gene Tree for TUBB2B (if available)
TreeFam Gene Tree for TUBB2B (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for TUBB2B gene

TUBB² TUBB8² TUBB4A² TUBB4B² TUBB3² ENSG00000173213² TUBB2A² TUBB6²

TUBE1² TUBB1² ENSG00000258947²

18/30 SIMAP similar genes for TUBB2B using alignment to 2 protein entries: TBB2B_HUMAN (see all proteins) (see all similar genes):

DKFZp566F223 XTP3TPATP1 TUBB2A TUBB4A TUBB4B TUBB2C

TUBB3 TUBB6 TUBB8 TUBB TUBB4Q TUBB1

TUBA1 TUBA4A TUBA1C TUBA1A TUBA2 TUBA3C

TUBB2B for paralogs About GeneDecksing

5/8 Pseudogenes.org Pseudogenes for TUBB2B (see all 8)
PGOHUM00000242422 PGOHUM00000239404 PGOHUM00000239742 PGOHUM00000238121 PGOHUM00000243043

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs144553817^1,2	C,F	other	3225021(+)	`AACTCC/TCCTTG`	2	G	syn¹		2		NA EU	5871
rs148845481^1,2		--	3224078(+)	`TTAATA/GACCAT`	1	--	ds500¹		0	--	--	--	--
rs74412822^1,2	F	--	3224131(+)	`TGGACG/ACTACA`	1	--	ds500¹		1		EA	120
rs115172416^1,2	C,F	--	3224205(+)	`CAGAAT/CTGTGT`	1	--	ds500¹		1		NA	120
rs7772006^1,2	C,F,A,H	--	3224209(+)	`ATTGTG/ATTAGT`	1	--	ds500¹		17		NS EA NA WA CSA	1746
rs182610115^1,2		--	3224213(+)	`TGTTAA/GTATCA`	1	--	ds500¹		0	--	--	--	--
rs147097336^1,2		--	3224288(+)	`TTTCTG/TCAAGG`	1	--	ds500¹		0	--	--	--	--
rs73349464^1,2	C	--	3224323(+)	`GGATGG/CTTTCC`	1	--	ds500¹		3		WA NA	240
rs138470020^1,2		--	3224473(+)	`AGGAAG/TTGCAC`	1	--	ds500¹		0	--	--	--	--
rs141781106^1,2	C	--	3224627(+)	`ACCTA-/CGCGCCT`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for TUBB2B (3224495 - 3231964 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for TUBB2B: --
Human Gene Mutation Database (HGMD): TUBB2B

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TUBB2B

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

TUBB2B for disorders           About GeneDecksing

OMIM gene information: 612850
OMIM disorders: 610031
UniProtKB/Swiss-Prot: TBB2B_HUMAN, Q9BVA1

Defects in TUBB2B are a cause of polymicrogyria, symmetric or asymmetric (PMGYSA) [MIM:610031]. A malformation

of the cortex in which the brain surface is irregular and characterized by an excessive number of small gyri with

abnormal lamination

11 diseases for TUBB2B: About MalaCards

polymicrogyria polymicrogyria, asymmetric macular degeneration lissencephaly

lung carcinoma breast cancer ataxia schizophrenia

carcinoma malaria neuronitis

2 diseases from the University of Copenhagen DISEASES database for TUBB2B:

Lissencephaly Ocular motility disease

Export disorders for TUBB2B gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for TUBB2B gene, integrated from 9 sources (see all 35):
(articles sorted by number of sources associating them with TUBB2B)

Utopia: connect your pdf to the dynamic
world of online information

Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. (PubMed id 19465910)^{1, 2} Jaglin X.H.... Chelly J. (2009)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)^{1, 2} Mungall A.J.... Beck S. (2003)
Large-scale concatenation cDNA sequencing. (PubMed id 9110174)^{1, 3} Yu W.... Gibbs R.A. (1997)
A "double adaptor" method for improved shotgun library construction. (PubMed id 8619474)^{1, 3} Andersson B.... Gibbs R.A. (1996)
A census of human soluble protein complexes. (PubMed id 22939629)¹ Havugimana P.C....Emili A. (2012)
Host cell interactome of HIV-1 Rev includes RNA helica ses involved in multiple facets of virus production. (PubMed id 22174317)¹ Naji S....Gerace L. (2012)
A novel mutation in the b-tubulin gene TUBB2B associat ed with complex malformation of cortical development and deficits in axonal guid ance. (PubMed id 22591407)¹ Romaniello R....Borgatti R. (2012)
Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)¹ Udeshi N.D....Carr S.A. (2012)
Symmetric polymicrogyria and pachygyria associated wit h TUBB2B gene mutations. (PubMed id 22333901)¹ Guerrini R....Parrini E. (2012)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 347733	HGNC: 30829	AceView: TUBBandMGC8685	Ensembl:ENSG00000137285	euGenes: HUgn347733
ECgene: TUBB2B	Kegg: 347733	H-InvDB: TUBB2B

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for TUBB2B	Pharmacogenomics, SNPs, Pathways

Intellectual Property for TUBB2B gene
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Patent Information for TUBB2B gene:
Search GeneIP for patents involving TUBB2B

GeneCards and IP:
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TUBB2B Gene

tubulin, beta 2B class IIb

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TUBB2B Gene

tubulin, beta 2B class IIb

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