Gene
TUBB2B
tubulin beta 2B class IIb
- HGNC 30829↗(opens in a new tab)
- Ensembl gene ENSG00000137285↗(opens in a new tab)
- NCBI Gene 347733↗(opens in a new tab)
Summary
- Cytogenetic location
- 6p25.2
- Coordinates
- Chromosome 6: 3,224,277–3,227,653 (GRCh38)
- Exons
- 4 exons across 3.4 kb
- Protein
- 445 amino acids
- Also known as
- MGC8685, DKFZp566F223, bA506K6.1
- MANE Select transcript
- ENST00000259818.8NM_178012.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads TUBB2B yet. The test sequences your whole genome, so your data includes it all the same.
How TUBB2B is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 1.9 kb of the gene's 3.4 kb; 1,338 of those bases code for the protein.
How a genome test reads TUBB2B
39
positions in TUBB2B where ClinVar classes a change as pathogenic or likely pathogenic
32 of them (82%) fall in regions short reads find hard.
- Low mappability (31 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
- Segmental duplications (32 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.
A whole genome covers all 3.4 kb of TUBB2B, introns included, not only the 1.9 kb of exons.
Traits linked to TUBB2B
The Human Phenotype Ontology lists these as features of the rare conditions TUBB2B can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Global developmental delay
- Intellectual disability
- More grooves in brain
- Motor delay
- Small brainstem
- Abnormal corpus callosum morphology
- Abnormal gait
- Abnormal shape of brainstem
Show 44 more traits
- Abnormal thalamus morphology
- Abnormality of the internal capsule
- Ataxia
- Cerebellar vermis hypoplasia
- Cognitive impairment
- Cortical dysplasia
- Dysgyria
- Hypoplasia of the pons
- Increased reflexes
- Abnormal morphology of the olfactory bulb
- Abnormality of movement
- Agenesis of corpus callosum
- Agyria
- Attention deficit
- Cerebral palsy
- Epilepsy
- Fewer and broader ridges in brain
- Generalized-onset seizure
- Partial agenesis of the corpus callosum
- Tetraparesis
- Ventriculomegaly
- Weakness of one side of body
- Abnormal caudate nucleus morphology
- Abnormal temper tantrums
- Aplasia of the olfactory bulb
- Brief seizures with staring spells
- Cavum septum pellucidum
- Degeneration of cerebellum
- Delayed motor skills
- Dysgenesis of the basal ganglia
- Gray matter heterotopia
- Infantile spasms
- Lateral ventricle dilatation
- Oromotor apraxia
- Perisylvian polymicrogyria
- Seizure affecting one half of brain
- Startle-induced seizure
- Underdevelopment of part of brain called corpus callosum
- Fewer or absent grooves in brain
- Schizencephaly
- Frontoparietal cortical dysplasia
- Small cerebellum
- Specific learning disability
- Unilateral polymicrogyria
Abnormality of the eye
- Abnormal best corrected visual acuity test
- Abnormality of ocular abduction
- Absent Bell phenomenon
- Cross-eyed
- Drooping upper eyelid
- Impaired ocular adduction
- Limited vertical extraocular movement
- Outward facing eye ball
Show 21 more traits
- Slow pupillary light response
- Abnormal electroretinogram
- Abnormal involuntary eye movements
- Abnormal visual field test
- Abnormality of refraction
- Compensatory chin elevation
- Constricted pupils
- Irregular pupil
- Lazy eye
- Nonprogressive restrictive external ophthalmoplegia
- Oculomotor apraxia
- Abnormality of the eye
- Abnormality of vision
- Asymmetric pupil sizes
- Clouding of the lens of the eye
- Drooping of both upper eyelids
- Hemianopia
- Inward turning cross eyed
- Limited extraocular movements
- Marcus Gunn jaw winking synkinesis
- Optic nerve hypoplasia
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). TUBB2B gene: tubulin beta 2B class IIb. Retrieved 17 October 2026, from https://dantelabs.com/genes/tubb2b
Dante Labs. TUBB2B gene: tubulin beta 2B class IIb [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tubb2b
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