TUBB2A
Tubulin beta-2A chain
Also known as: dJ40E16.7, TBB2A_HUMAN, TUBB, TUBB2
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q13885
- Gene
- TUBB2A
- Ensembl
- ENSG00000137267
- 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
Microtubules, key participants in processes such as mitosis and intracellular transport, are composed of heterodimers of alpha- and beta-tubulins. The protein encoded by this gene is a beta-tubulin. Defects in this gene are associated with complex cortical dysplasia with other brain malformations-5. Two transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2015]
Canonical amino-acid sequenceUniProt
445 residues, UniProt reviewed canonical sequence.
>Q13885|TUBB2A
1 MREIVHIQAG QCGNQIGAKF WEVISDEHGI DPTGSYHGDS DLQLERINVY YNEAAGNKYV
61 PRAILVDLEP GTMDSVRSGP FGQIFRPDNF VFGQSGAGNN WAKGHYTEGA ELVDSVLDVV
121 RKESESCDCL QGFQLTHSLG GGTGSGMGTL LISKIREEYP DRIMNTFSVM PSPKVSDTVV
181 EPYNATLSVH QLVENTDETY SIDNEALYDI 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 TUBB2A 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)
- 0.22
- Highest tissue expression
- 542 nTPM
Expression across tissuesHPA
Tissue
- cerebral cortex: 542 nTPM
- hypothalamus: 486 nTPM
- amygdala: 394 nTPM
- hippocampal formation: 358 nTPM
- midbrain: 350 nTPM
- cerebellum: 335 nTPM
Single-cell type
- esophageal apical cells: 539 nCPM
- suprabasal keratinocytes: 422 nCPM
- esophageal suprabasal cells: 414 nCPM
- other brain neurons: 381 nCPM
- platelets: 315 nCPM
- breast myoepithelial cells: 296 nCPM
Immune cell
- memory B-cell: 3.2 nTPM
- T-reg: 3.2 nTPM
- memory CD8 T-cell: 3.1 nTPM
- MAIT T-cell: 2.4 nTPM
- gdT-cell: 2.2 nTPM
- memory CD4 T-cell: 2.1 nTPM
Brain region
- hypothalamus: 788 nTPM
- pons: 727 nTPM
- cerebral cortex: 599 nTPM
- basal ganglia: 562 nTPM
- medulla oblongata: 516 nTPM
- midbrain: 461 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about TUBB2A.
Disease | AllUniProt
Conditions TUBB2A is implicated in, by any mechanism.
- Cortical dysplasia, complex, with other brain malformations 5 (CDCBM5) MIM:615763
Disease | GeneticClinVar
36 pathogenic / likely-pathogenic of 373 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Complex cortical dysplasia with other brain malformations 5
- Congenital cerebellar hypoplasia
- TUBB2A-related tubulinopathy
- Tubulinopathy
- TUBB2A-related disorder
Disease | ImmuneIEDB
Conditions an epitope on TUBB2A was assayed in.
- multiple sclerosis 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)
- 0.36
- gnomAD pLI
- 0.93
- gnomAD missense Z
- 5.26
- DepMap mean gene effect
- 0.1
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
Molecular functions
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 TUBB2A 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 TUBB2A as an antibody target. Whether an autoantibody or antibody against TUBB2A could matter depends on whether native TUBB2A is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
TUBB2A 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 TUBB2A as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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