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] See more...

Aliases for TUBB2B Gene

Aliases for TUBB2B Gene

  • Tubulin Beta 2B Class IIb 2 3 5
  • Class IIb Beta-Tubulin 2 3
  • Tubulin Beta-2B Chain 3 4
  • Tubulin, Beta 2B 2 3
  • BA506K6.1 2 3
  • Epididymis Secretory Sperm Binding Protein 3
  • Tubulin, Beta Polypeptide Paralog 3
  • Class II Beta-Tubulin Isotype 3
  • DKFZp566F223 2
  • MGC8685 2
  • CDCBM7 3
  • PMGYSA 3
  • TUBB2B 5

External Ids for TUBB2B Gene

Previous GeneCards Identifiers for TUBB2B Gene

  • GC06M003172
  • GC06M003173
  • GC06M003102

Summaries for TUBB2B Gene

Entrez Gene Summary for TUBB2B Gene

  • 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]

GeneCards Summary for TUBB2B Gene

TUBB2B (Tubulin Beta 2B Class IIb) is a Protein Coding gene. Diseases associated with TUBB2B include Cortical Dysplasia, Complex, With Other Brain Malformations 7 and Tubulinopathy-Associated Dysgyria. Among its related pathways are G-Beta Gamma Signaling and Pathways of neurodegeneration - multiple diseases. Gene Ontology (GO) annotations related to this gene include GTP binding and structural constituent of cytoskeleton. An important paralog of this gene is TUBB2A.

UniProtKB/Swiss-Prot Summary for TUBB2B Gene

  • Tubulin is the major constituent of microtubules (PubMed:23001566, PubMed:28013290, PubMed:26732629). 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). Plays a critical role in proper axon guidance in both central and peripheral axon tracts (PubMed:23001566). Implicated in neuronal migration (PubMed:19465910).

Tocris Summary for TUBB2B Gene

  • 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 (+).

No data available for CIViC Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TUBB2B Gene

Genomics for TUBB2B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TUBB2B Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TUBB2B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TUBB2B

Top Transcription factor binding sites by QIAGEN in the TUBB2B gene promoter:
  • Arnt
  • C/EBPbeta
  • Cart-1
  • Gfi-1
  • HNF-3beta
  • IRF-2
  • MyoD
  • Olf-1
  • Pax-4a

Genomic Locations for TUBB2B Gene

Latest Assembly
chr6:3,223,324-3,231,730
(GRCh38/hg38)
Size:
8,407 bases
Orientation:
Minus strand

Previous Assembly
chr6:3,224,511-3,227,887
(GRCh37/hg19 by Entrez Gene)
Size:
3,377 bases
Orientation:
Minus strand

chr6:3,224,495-3,231,964
(GRCh37/hg19 by Ensembl)
Size:
7,470 bases
Orientation:
Minus strand

Genomic View for TUBB2B Gene

Genes around TUBB2B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TUBB2B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TUBB2B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TUBB2B Gene

Proteins for TUBB2B Gene

  • Protein details for TUBB2B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BVA1-TBB2B_HUMAN
    Recommended name:
    Tubulin beta-2B chain
    Protein Accession:
    Q9BVA1
    Secondary Accessions:
    • A8K068

    Protein attributes for TUBB2B Gene

    Size:
    445 amino acids
    Molecular mass:
    49953 Da
    Quaternary structure:
    • Dimer of alpha and beta chains (PubMed:23001566, PubMed:28013290, PubMed:26732629). A typical microtubule is a hollow water-filled tube with an outer diameter of 25 nm and an inner diameter of 15 nM. Alpha-beta heterodimers associate head-to-tail to form protofilaments running lengthwise along the microtubule wall with the beta-tubulin subunit facing the microtubule plus end conferring a structural polarity. Microtubules usually have 13 protofilaments but different protofilament numbers can be found in some organisms and specialized cells.

    Three dimensional structures from OCA and Proteopedia for TUBB2B Gene

neXtProt entry for TUBB2B Gene

Post-translational modifications for TUBB2B Gene

  • Some glutamate residues at the C-terminus are polyglutamylated, resulting in polyglutamate chains on the gamma-carboxyl group (PubMed:26875866). Polyglutamylation plays a key role in microtubule severing by spastin (SPAST). SPAST preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity by SPAST increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold (PubMed:26875866).
  • Some glutamate residues at the C-terminus are 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). Both polyglutamylation and monoglycylation can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally. The precise function of monoglycylation is still unclear (Probable).
  • Phosphorylated on Ser-172 by CDK1 during the cell cycle, from metaphase to telophase, but not in interphase. This phosphorylation inhibits tubulin incorporation into microtubules.
  • Ubiquitination at Lys324
  • Modification sites at PhosphoSitePlus

Other Protein References for TUBB2B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TUBB2B Gene

Domains & Families for TUBB2B Gene

Gene Families for TUBB2B Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for TUBB2B Gene

GenScript: Design optimal peptide antigens:
  • TUBB2B protein (A1L195_HUMAN)
  • Tubulin beta-2B chain (TBB2B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BVA1

UniProtKB/Swiss-Prot:

TBB2B_HUMAN :
  • Belongs to the tubulin family.
Family:
  • Belongs to the tubulin family.
genes like me logo Genes that share domains with TUBB2B: view

Function for TUBB2B Gene

Molecular function for TUBB2B Gene

UniProtKB/Swiss-Prot Function:
Tubulin is the major constituent of microtubules (PubMed:23001566, PubMed:28013290, PubMed:26732629). 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). Plays a critical role in proper axon guidance in both central and peripheral axon tracts (PubMed:23001566). Implicated in neuronal migration (PubMed:19465910).

Phenotypes From GWAS Catalog for TUBB2B Gene

Gene Ontology (GO) - Molecular Function for TUBB2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IEA --
GO:0005200 structural constituent of cytoskeleton IBA 21873635
GO:0005515 protein binding IPI 21078624
GO:0005525 GTP binding IBA 21873635
genes like me logo Genes that share ontologies with TUBB2B: view
genes like me logo Genes that share phenotypes with TUBB2B: view

Human Phenotype Ontology for TUBB2B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TUBB2B

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TUBB2B Gene

Localization for TUBB2B Gene

Subcellular locations from UniProtKB/Swiss-Prot for TUBB2B Gene

Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TUBB2B gene
Compartment Confidence
cytoskeleton 5
nucleus 4
cytosol 3
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytokinetic bridge (3)
  • Microtubules (3)
  • Mitotic spindle (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TUBB2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 21630459
GO:0005737 cytoplasm IBA 21873635
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IBA,IDA 21525035
GO:0015630 microtubule cytoskeleton IDA 23001566
genes like me logo Genes that share ontologies with TUBB2B: view

Pathways & Interactions for TUBB2B Gene

genes like me logo Genes that share pathways with TUBB2B: view

Pathways by source for TUBB2B Gene

10 GeneGo (Thomson Reuters) pathways for TUBB2B Gene
  • Cell adhesion Gap junctions
  • Cell cycle_Spindle assembly and chromosome separation
  • Cytoskeleton remodeling Keratin filaments
  • Cytoskeleton remodeling Neurofilaments
  • Cytoskeleton remodeling Reverse signaling by ephrin B
9 Qiagen pathways for TUBB2B Gene
  • Breast Cancer Regulation by Stathmin1
  • Epithelial Adherens Junctions
  • Epithelial Tight Junctions
  • Germ Cell-Sertoli Cell Junction Dynamics
  • Hedgehog Signaling in Mammals

Gene Ontology (GO) - Biological Process for TUBB2B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization IBA 21873635
GO:0000278 mitotic cell cycle IBA 21873635
GO:0001764 neuron migration IMP 19465910
GO:0007010 cytoskeleton organization IEA --
GO:0007017 microtubule-based process IMP 26732629
genes like me logo Genes that share ontologies with TUBB2B: view

No data available for SIGNOR curated interactions for TUBB2B Gene

Drugs & Compounds for TUBB2B Gene

(6) Drugs for TUBB2B Gene - From: DrugBank, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
2-MERCAPTO-N-[1,2,3,10-TETRAMETHOXY-9-OXO-5,6,7,9-TETRAHYDRO-BENZO[A]HEPTALEN-7-YL]ACETAMIDE Experimental Pharma Target 0
Guanosine triphosphate Experimental Pharma 0
Nocodazole Experimental Pharma Tubulin production inhibitor,anti-neoplastic agent, Microtubule inhibitor 0
CYT997 Investigational Pharma Target 0
MPC 6827 hydrochloride Pharma Potent microtubule inhibitor, Inhibitor of microtubule polymerization; antimitotic and antitumor 0

(2) Additional Compounds for TUBB2B Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Noscapine hydrochloride
912-60-7
taxol
33069-62-4

(5) Tocris Compounds for TUBB2B Gene

Compound Action Cas Number
MPC 6827 hydrochloride Inhibitor of microtubule polymerization; antimitotic and antitumor 917369-31-4
Nocodazole Microtubule inhibitor 31430-18-9
Noscapine hydrochloride Tubulin inhibitor; induces apoptosis 912-60-7
Taxol Promotes assembly and inhibits disassembly of microtubules 33069-62-4
Vinblastine sulfate Disrupts microtubules 143-67-9
genes like me logo Genes that share compounds with TUBB2B: view

Transcripts for TUBB2B Gene

mRNA/cDNA for TUBB2B Gene

1 REFSEQ mRNAs :
14 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TUBB2B

Alternative Splicing Database (ASD) splice patterns (SP) for TUBB2B Gene

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

Relevant External Links for TUBB2B Gene

GeneLoc Exon Structure for
TUBB2B

Expression for TUBB2B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TUBB2B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TUBB2B Gene

This gene is overexpressed in Brain - Spinal cord (cervical c-1) (x6.0), Brain - Nucleus accumbens (basal ganglia) (x5.5), Brain - Substantia nigra (x4.9), Brain - Caudate (basal ganglia) (x4.9), Brain - Amygdala (x4.4), Brain - Putamen (basal ganglia) (x4.4), and Brain - Hypothalamus (x4.2).

Protein differential expression in normal tissues from HIPED for TUBB2B Gene

This gene is overexpressed in Fetal Brain (36.1) and Spinal cord (12.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TUBB2B Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TUBB2B

SOURCE GeneReport for Unigene cluster for TUBB2B Gene:

Hs.300701

mRNA Expression by UniProt/SwissProt for TUBB2B Gene:

Q9BVA1-TBB2B_HUMAN
Tissue specificity: High expression in brain.

Evidence on tissue expression from TISSUES for TUBB2B Gene

  • Nervous system(5)
  • Muscle(4.3)
  • Lung(3)
  • Eye(2.7)
  • Heart(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TUBB2B Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • eye
  • eyelid
  • face
  • forehead
  • head
  • lip
  • mouth
  • salivary gland
  • skull
Thorax:
  • chest wall
  • rib
  • rib cage
  • sternum
Pelvis:
  • pelvis
  • rectum
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • toe
  • upper limb
General:
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with TUBB2B: view

Primer products for research

No data available for Protein tissue co-expression partners for TUBB2B Gene

Orthologs for TUBB2B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TUBB2B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TUBB2B 29 30
  • 99.78 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TUBB2B 29 30
  • 94.76 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TUBB2B 29 30
  • 94.68 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tubb2b 29
  • 91.69 (n)
Mouse
(Mus musculus)
Mammalia Tubb2b 29 16 30
  • 91.54 (n)
OneToOne
Chicken
(Gallus gallus)
Aves -- 30
  • 99 (a)
ManyToMany
TUBB2B 29 30
  • 89.21 (n)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 100 (a)
ManyToMany
-- 30
  • 98 (a)
ManyToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tubb2b 29
  • 82.25 (n)
MGC75628 29
Zebrafish
(Danio rerio)
Actinopterygii TUBB2A 30
  • 95 (a)
OneToMany
zgc:123194 29
  • 84.57 (n)
tubb2 29
Fruit Fly
(Drosophila melanogaster)
Insecta betaTub85D 29 30
  • 82.95 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea tbb-4 30
  • 93 (a)
ManyToMany
mec-7 29 30
  • 75.66 (n)
ManyToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TUB2 30
  • 72 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons TUB2 29
  • 73.72 (n)
Rice
(Oryza sativa)
Liliopsida Os03g0661300 29
  • 79.38 (n)
Species where no ortholog for TUBB2B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for TUBB2B Gene

ENSEMBL:
Gene Tree for TUBB2B (if available)
TreeFam:
Gene Tree for TUBB2B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TUBB2B: view image
Alliance of Genome Resources:
Additional Orthologs for TUBB2B

Paralogs for TUBB2B Gene

(29) SIMAP similar genes for TUBB2B Gene using alignment to 2 proteins:

  • TBB2B_HUMAN
  • A1L195_HUMAN
genes like me logo Genes that share paralogs with TUBB2B: view

Variants for TUBB2B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TUBB2B Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
1013275 Uncertain Significance: not provided 3,225,311(-) A/C
NM_178012.5(TUBB2B):c.778T>G (p.Phe260Val)
MISSENSE
1030360 Uncertain Significance: Polymicrogyria, asymmetric 3,225,328(-) G/T
NM_178012.5(TUBB2B):c.761C>A (p.Ala254Glu)
MISSENSE
1048606 Likely Pathogenic: Polymicrogyria, asymmetric 3,224,927(-) T/G
MISSENSE
864868 Likely Pathogenic: Polymicrogyria, asymmetric 3,225,487(-) C/A
NM_178012.5(TUBB2B):c.602G>T (p.Cys201Phe)
MISSENSE
975947 Likely Pathogenic: Polymicrogyria, asymmetric 3,225,478(-) T/A
NM_178012.5(TUBB2B):c.611A>T (p.Asn204Ile)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TUBB2B Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TUBB2B Gene

Variant ID Type Subtype PubMed ID
nsv965676 CNV duplication 23825009

Variation tolerance for TUBB2B Gene

Residual Variation Intolerance Score: 54.2% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TUBB2B Gene

Human Gene Mutation Database (HGMD)
TUBB2B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TUBB2B
Leiden Open Variation Database (LOVD)
TUBB2B

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TUBB2B Gene

Disorders for TUBB2B Gene

MalaCards: The human disease database

(27) MalaCards diseases for TUBB2B Gene - From: OMI, CVR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
cortical dysplasia, complex, with other brain malformations 7
  • cdcbm7
tubulinopathy-associated dysgyria
  • brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome
tukel syndrome
  • fibrosis of extraocular muscles, congenital, with ulnar hand anomalies
cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1
  • camrq1
lissencephaly
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TBB2B_HUMAN
  • Cortical dysplasia, complex, with other brain malformations 7 (CDCBM7) [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. Polymicrogyria is a heterogeneous disorder, considered to be the result of postmigratory abnormal cortical organization. {ECO:0000269 PubMed:19465910, ECO:0000269 PubMed:22333901, ECO:0000269 PubMed:23001566, ECO:0000269 PubMed:26732629}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Note=Defects in TUBB2B may be involved in cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ). {ECO:0000269 PubMed:28013290}.

Additional Disease Information for TUBB2B

genes like me logo Genes that share disorders with TUBB2B: view

No data available for Genatlas for TUBB2B Gene

Publications for TUBB2B Gene

  1. Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability. (PMID: 28013290) Breuss MW … Gleeson JG (Human molecular genetics 2017) 3 4 72
  2. An inherited TUBB2B mutation alters a kinesin-binding site and causes polymicrogyria, CFEOM and axon dysinnervation. (PMID: 23001566) Cederquist GY … Engle EC (Human molecular genetics 2012) 3 4 72
  3. Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. (PMID: 19465910) Jaglin XH … Chelly J (Nature genetics 2009) 3 4 72
  4. De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy. (PMID: 26732629) Laquerriere A … Poirier K (European journal of medical genetics 2016) 3 4
  5. Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations. (PMID: 22333901) Guerrini R … Parrini E (European journal of human genetics : EJHG 2012) 3 4

Products for TUBB2B Gene

Sources for TUBB2B Gene