Basic Information

Symbol
TUBB3
RNA class
mRNA
Alias
Tubulin Beta 3 Class III CFEOM3A Beta-4 CFEOM3 Class III Beta-Tubulin Tubulin Beta-3 Chain Tubulin Beta-4 Chain Tubulin Beta-III Tubulin, Beta 3 FEOM3 TUBB4 Fibrosis Of Extraocular Muscles, Congenital, 3 CDCBM1 CDCBM
Location (GRCh38)
16:89921392-89938761
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Drug abuse diagnoses
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_006086.4
Sequence length
1706.0 nt
GC content
0.6219

Transcripts

ID Sequence Length GC content
NM_001197181.2 NCBI
ACCAGACCCCUCUGAGGAUGGAGCAGGAGCUGGCUGCCCUGAGGCUGCA… 1910 nt 0.6089
NM_006086.4 NCBI
CUCAGCAGCCAGCCCGGCCCGCCCGCGCCCGUCCGCAGCCGCCCGCCAG… 1706 nt 0.6219
Summary

This gene encodes a class III member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is primarily expressed in neurons and may be involved in neurogenesis and axon guidance and maintenance. Mutations in this gene are the cause of congenital fibrosis of the extraocular muscles type 3. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Oct 2010] CIViC Summary for TUBB3 Gene

Forensic Context

A study in mice demonstrated that acute alcohol exposure during neurulation induces rapid transcriptomic changes in the rostroventral neural tube, with the TUBB3 being up-regulated (+0.31 Log2FC) 2 hours post-exposure, indicating its involvement in cilia biogenesis pathways perturbed by alcohol [Boschen et al. DOI:10.1016/J.Alcohol.2022.09.001]. In human postmortem prefrontal cortex, coordinated expression networks associated with lifetime alcohol consumption were identified, revealing systematic transcriptome organization changes related to neurophysiological targets of alcohol [Farris et al. DOI:10.1038/Mp.2014.159].