TUBA1B

protein-coding

tubulin alpha 1b, the group of Tubulins

Gene summary

Enables several functions, including GTP binding activity; double-stranded RNA binding activity; and ubiquitin protein ligase binding activity. A structural constituent of cytoskeleton. Involved in microtubule cytoskeleton organization. Located in cilium and microtubule. Is active in microtubule cytoskeleton. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_006082.3

Inheritance

—

ClinVar variants

U:11B:10

Top phenotype

TUBA1B-associated neurodevelopmental disorder

gnomAD constraint

pLI —, LoF o/e 0.07

Max pathogenic AF

—

Genomic locus

chr12:49,127,782-49,131,397

External References & Databases

Ensembl (ENSG00000123416)

Transcript & Mutation Effects

hg38 • Region Span ~3.6 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TUBA1B variants in ClinVar

5 Conditions Cataloged

not providedTotal: 10

not specifiedTotal: 2

TUBA1B-associated neurodevelopmental disorderTotal: 1

Neuromuscular diseaseTotal: 1

Congenital fibrosis of extraocular musclesTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_006082.3. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			2 clinvar	9 clinvar	1 clinvar	12
missense			5 clinvar			5
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	11	9	1	21

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 23 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_006082.3	RefSeq	NP_006073.2	4	MANE Select
ENST00000336023.9	Ensembl	ENSP00000336799.5	4	MANE Select
ENST00000547476.5	Ensembl	ENSP00000449748.1	2	Standard
ENST00000547765.5	Ensembl	ENSP00000448045.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Tight junction - Homo sapiens (human)
Phagosome - Homo sapiens (human)
Gap junction - Homo sapiens (human)
Pathogenic Escherichia coli infection - Homo sapiens (human)
Apoptosis - Homo sapiens (human)

Biological Process

microtubule cytoskeleton organization
mitotic cell cycle
microtubule-based process
cytoskeleton-dependent intracellular transport
cell division

Molecular Function

double-stranded RNA binding
GTPase activity
structural molecule activity
structural constituent of cytoskeleton
protein binding

Cellular Component

cytoplasm
microtubule
cytoplasmic microtubule
microtubule cytoskeleton
myelin sheath

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000336023
Coding exons: 4
Length: 3616
Individuals with no LoFs: 125746
Homozygous LoFs: 0
Heterozygous LoFs: 2
Defined: 125748
p: 0.00000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	5.41	16	263	0.0608	0.0000152	2970
Missense (PolyPhen)		4	124.35	0.032168		1437
Synonymous	-1.80	119	96.5	1.23	0.00000523	905
Loss of Function	3.36	1	15.0	0.0664	8.31e-7	175

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.0000088	0.0000088	rare
South Asian	0.000033	0.000033	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain.;

Recessive Scores

pRec: 0.212

Intolerance Scores

LoFtool: 0.155
RVIS EVS: -0.23
RVIS percentile EVS: 36.86

Essentials

Essential (CRISPR): E
Essential (CRISPR2): S
Essential (gene trap): E
Indispensability pred.: E
Indispensability score: 0.835

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Low	Low	Low
Primary Immunodeficiency	Low	Low	Low
Cancer	Low	Low	Low