• 0
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
TUBB3 (HGNC:20772) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
tubulin beta 3 class III
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
FEOM3
Alias symbols
beta-4, CFEOM3, CFEOM3A
%HI
61.93(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.11(Read more about gnomAD LOEUF score)
Cytoband
16q24.3
Genomic Coordinates
GRCh37/hg19: chr16:89988333-90002505 NCBI Ensembl UCSC
GRCh38/hg38: chr16:89921925-89936097 NCBI Ensembl UCSC
MANE Select Transcript
NM_006086.4 ENST00000315491.12 (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 (PubMed:34996871). Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilizing cap forms (PubMed:34996871). Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha- tubulin (PubMed:34996871). TUBB3 plays a critical role in proper axon guidance and maintenance (... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-1265
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/30/2017

Haploinsufficiency (HI) Score Details

HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency (Disclaimer)
HI Evidence Comments:
TUBB3 encodes a beta-tubulin class III protein that functions in the nervous system to regulate a variety of processes including microtubule dynamics, kinesin interactions and axon guidance. Heterozygous missense variants in TUBB3 have been identified in association with a spectrum of nervous system development phenotypes including hypoplasia of the oculomotor nerves and malformations of cortical development. Functional studies suggest a dominant effect of these mutations underlies pathogenicity of TUBB3-related phenotypes. There is currently insufficient evidence that deletion (haploinsufficiency) of TUBB3 is disease-causing. A report of non-focal deletion involving TUBB3 and additional genes is summarized below. Therefore the current haploinsufficiency score is 0. Additional relevant literature is summarized below: Gronborg et al. 2015 (PMID: 26109418) described monozygotic twins with a 320 kb de novo deletion of 16q24.3 which included the gene TUBB3 and 10 other genes. The phenotypic features included global developmental delay, secondary microcephaly, mild spastic diplegia and mild facial dysmorphism, but did not include cortical or other cerebral malformations commonly observed in TUBB3-related disorders. Tischfield et al., 2010 (PMID: 20074521) reported 8 novel heterozygous missense variants and performed functional studies that support a dominant-negative or gain-of-function effect leading to TUBB3 syndromes.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Published Evidence:

Genomic View

Select assembly: (NC_000016.9) (NC_000016.10)