TUBB2B
Tubulin beta-2B chain
Also known as: bA506K6.1, DKFZp566F223, MGC8685, TBB2B_HUMAN
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9BVA1
- Gene
- TUBB2B
- Ensembl
- ENSG00000137285
- Chromosome
- 6
- Canonical length
- 445 aa
- Protein class
- Disease related genes, Human disease related genes, Predicted intracellular proteins
- Subcellular location
- Microtubules,Cytokinetic bridge,Mitotic spindle,Primary cilium,Basal body,Flagellar centriole,Principal piece,End piece
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
445 residues, UniProt reviewed canonical sequence.
>Q9BVA1|TUBB2B
1 MREIVHIQAG QCGNQIGAKF WEVISDEHGI DPTGSYHGDS DLQLERINVY YNEATGNKYV
61 PRAILVDLEP GTMDSVRSGP FGQIFRPDNF VFGQSGAGNN WAKGHYTEGA ELVDSVLDVV
121 RKESESCDCL QGFQLTHSLG GGTGSGMGTL LISKIREEYP DRIMNTFSVM PSPKVSDTVV
181 EPYNATLSVH QLVENTDETY CIDNEALYDI CFRTLKLTTP TYGDLNHLVS ATMSGVTTCL
241 RFPGQLNADL RKLAVNMVPF PRLHFFMPGF APLTSRGSQQ YRALTVPELT QQMFDSKNMM
301 AACDPRHGRY LTVAAIFRGR MSMKEVDEQM LNVQNKNSSY FVEWIPNNVK TAVCDIPPRG
361 LKMSATFIGN STAIQELFKR ISEQFTAMFR RKAFLHWYTG EGMDEMEFTE AESNMNDLVS
421 EYQQYQDATA DEQGEFEEEE GEDEALocalizationUniProt · AlphaFold · HPA
Whether an antibody against TUBB2B can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.21
- Highest tissue expression
- 596 nTPM
Expression across tissuesHPA
Tissue
- spinal cord: 596 nTPM
- basal ganglia: 512 nTPM
- midbrain: 483 nTPM
- cerebral cortex: 428 nTPM
- amygdala: 417 nTPM
- hypothalamus: 354 nTPM
Single-cell type
- müller glia: 679 nCPM
- epididymal principal cells: 381 nCPM
- bergmann glia: 373 nCPM
- retinal horizontal cells: 222 nCPM
- breast myoepithelial cells: 194 nCPM
- astrocytes: 159 nCPM
Immune cell
- memory B-cell: 0.3 nTPM
- total PBMC: 0.1 nTPM
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
Brain region
- white matter: 507 nTPM
- medulla oblongata: 485 nTPM
- hypothalamus: 484 nTPM
- pons: 466 nTPM
- midbrain: 454 nTPM
- cerebellum: 445 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about TUBB2B.
Disease | AllUniProt
Conditions TUBB2B is implicated in, by any mechanism.
- Cortical dysplasia, complex, with other brain malformations 7 (CDCBM7) MIM:610031
Disease | GeneticClinVar
72 pathogenic / likely-pathogenic of 244 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Complex cortical dysplasia with other brain malformations 7
- Lissencephaly
- Inborn genetic diseases
- Tubulinopathy
- Congenital bilateral perisylvian syndrome
Disease | ImmuneIEDB
Conditions an epitope on TUBB2B was assayed in.
- multiple sclerosis B cell
- Chagas disease B cell
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.22
- gnomAD pLI
- 0.99
- gnomAD missense Z
- 5.12
- DepMap mean gene effect
- -0.17
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cerebral cortex development
- embryonic brain development
- microtubule cytoskeleton organization
- microtubule-based process
- mitotic cell cycle
- modulation of chemical synaptic transmission
- neuron migration
- positive regulation of axon guidance
Molecular functions
- GTP binding
- GTPase activity
- metal ion binding
- protein heterodimerization activity
- structural constituent of cytoskeleton
Cellular components
Protein domainsUniProt · Pfam · InterPro
- Tubulin
- Beta tubulin
- Tubulin/FtsZ, GTPase domain
- Tubulin/FtsZ, C-terminal
- Beta tubulin, autoregulation binding site
- Tubulin, conserved site
- Tubulin/FtsZ, 2-layer sandwich domain
- Tubulin, C-terminal
- Tubulin/FtsZ, GTPase domain superfamily
- Tubulin/FtsZ-like, C-terminal domain
- Tubulin/FtsZ family, GTPase domain
- Tubulin C-terminal domain
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of TUBB2B in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads TUBB2B as an antibody target. Whether an autoantibody or antibody against TUBB2B could matter depends on whether native TUBB2B is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TUBB2B is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label TUBB2B as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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