Gene: TUBB4A (tubulin beta 4A class IVa) Homo sapiens
Symbol: TUBB4A
Name: tubulin beta 4A class IVa
Description: This gene encodes a member of the beta tubulin family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene cause hypomyelinating leukodystrophy-6 and autosomal dominant torsion dystonia-4. Alternate splicing results in multiple transcript variants encoding different isoforms. A pseudogene of this gene is found on chromosome X. [provided by RefSeq, Jan 2014]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: beta-5; class IVa beta-tubulin; dystonia 4, torsion (autosomal dominant); DYT4; HLD6; TUBB4; TUBB5; tubulin 5 beta; tubulin beta-4 chain; tubulin beta-4A chain; tubulin, beta 4; tubulin, beta 4 class IVa; tubulin, beta 4A class IVa; tubulin, beta, 5
Mus musculus (house mouse) : Tubb4a (tubulin, beta 4A class IVA)  MGI  Alliance
Rattus norvegicus (Norway rat) : Tubb4a (tubulin, beta 4A class IVa)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Tubb4a (tubulin beta 4A class IVa)
Pan paniscus (bonobo/pygmy chimpanzee) : TUBB4A (tubulin beta 4A class IVa)
Canis lupus familiaris (dog) : TUBB4A (tubulin beta 4A class IVa)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Tubb4a (tubulin beta 4A class IVa)
Sus scrofa (pig) : TUBB4A (tubulin beta 4A class IVa)
more info ...
Related Pseudogenes: TUBB4AP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38196,494,319 - 6,502,848 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37196,494,330 - 6,502,595 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36196,445,330 - 6,453,330 (-)NCBINCBI36hg18NCBI36
Build 34196,445,329 - 6,453,330NCBI
Celera196,434,150 - 6,442,152 (-)NCBI
Cytogenetic Map19p13.3NCBI
HuRef196,257,064 - 6,265,066 (-)NCBIHuRef
CHM1_1196,493,927 - 6,502,443 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on TUBB4A
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1348861
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-05-14
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.