TUBB2B tubulin beta 2B class IIb
Gene ID: 347733, updated on 3-Nov-2024Gene type: protein coding
Also known as: CDCBM7; PMGYSA; bA506K6.1
- See all available tests in GTR for this gene
- Go to complete Gene record for TUBB2B
- Go to Variation Viewer for TUBB2B variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Complex cortical dysplasia with other brain malformations 7 MedGen: C3552236OMIM: 610031GeneReviews: Congenital Fibrosis of the Extraocular Muscles Overview, Tubulinopathies Overview | See labs |
Genomic context
- Location:
- 6p25.2
- Sequence:
- Chromosome: 6; NC_000006.12 (3224277..3227653, complement)
- Total number of exons:
- 4
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TUBB2B variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- TUBB2B database
- Variation ViewerRelated Variants
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