TUBB2B Chromosome 6
Tubulin beta 2B class IIb
Upload your DNA to see your personal genotypes for variants in TUBB2B.
What This Gene Does
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]
Gene Info
Gene Group
Tubulin beta family
Locus Type
gene with protein product
Location
6p25.2
Ensembl
ENSG00000137285
Associated Conditions (6)
Inborn genetic diseases
TUBB2B-related disorder
Complex cortical dysplasia with other brain malformations 7
Lissencephaly
Tubulinopathy
Congenital bilateral perisylvian syndrome
Key Variants
RS1057520391
Conflicting classifications of pathogenicity
Inborn genetic diseases, TUBB2B-related disorder, Inborn genetic diseases
Health Risk
RS1412515838
Conflicting classifications of pathogenicity
Complex cortical dysplasia with other brain malformations 7, Inborn genetic diseases, Complex cortical dysplasia with other brain malformations 7
Health Risk
RS1554126865
Conflicting classifications of pathogenicity
Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
Health Risk
RS1554126902
Conflicting classifications of pathogenicity
Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
Health Risk
RS1581525683
Conflicting classifications of pathogenicity
Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
Health Risk
RS2113819014
Conflicting classifications of pathogenicity
Health Risk
RS397514568
Conflicting classifications of pathogenicity
Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
Health Risk
RS587784499
Conflicting classifications of pathogenicity
Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
Health Risk
RS587784500
Conflicting classifications of pathogenicity
Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
Health Risk
RS777598117
Conflicting classifications of pathogenicity
Health Risk
RS797046075
Conflicting classifications of pathogenicity
Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7
Health Risk
RS1057517932
Likely pathogenic
Health Risk
All Variants (59)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2533617345 | Health Risk | Pathogenic | Complex cortical dysplasia with other brain malformations 7, Congenital bilateral perisylvian syndrome, Complex cortical dysplasia with other brain malformations 7 |
| RS2533617772 | Health Risk | Pathogenic | — |
| RS397514567 | Health Risk | Pathogenic | Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7 |
| RS398122369 | Health Risk | Pathogenic | Complex cortical dysplasia with other brain malformations 7, Lissencephaly, Complex cortical dysplasia with other brain malformations 7 |
| RS878853284 | Health Risk | Pathogenic | Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7 |
| RS1581525728 | Health Risk | Pathogenic/Likely pathogenic | Complex cortical dysplasia with other brain malformations 7, Inborn genetic diseases, Complex cortical dysplasia with other brain malformations 7 |
| RS2113818881 | Health Risk | Pathogenic/Likely pathogenic | Tubulinopathy, Tubulinopathy |
| RS2113819240 | Health Risk | Pathogenic/Likely pathogenic | Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7 |
| RS587784498 | Health Risk | Pathogenic/Likely pathogenic | Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7, Complex cortical dysplasia with other brain malformations 7 |