Gene Facts External Data Attribution

HGNC Symbol
TUBA8 (HGNC:12410) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
tubulin alpha 8
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
TUBAL2
Alias symbols
No aliases found
%HI
42.62(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.1(Read more about gnomAD LOEUF score)
Cytoband
22q11.21
Genomic Coordinates
GRCh37/hg19: chr22:18593575-18614499 NCBI Ensembl UCSC
GRCh38/hg38: chr22:18110809-18131732 NCBI Ensembl UCSC
MANE Select Transcript
NM_018943.3 ENST00000330423.8 (Read more about MANE Select)
Function
Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilizing cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-23086
Curation Status:
Under Secondary Review
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Under Secondary Review
Triplosensitivity:
Under Secondary Review
Last Evaluated:
Under Secondary Review

Haploinsufficiency (HI) Score Details

Review not yet complete.

Triplosensitivity (TS) Score Details

Review not yet complete.

Genomic View

Select assembly: (NC_000022.10) (NC_000022.11)