TUBAL3

protein-coding

tubulin alpha like 3, the group of Tubulins

Gene summary

Predicted to enable GTP binding activity. Predicted to be a structural constituent of cytoskeleton. Predicted to be involved in microtubule cytoskeleton organization and mitotic cell cycle. Predicted to be located in cytoskeleton. Predicted to be active in cytoplasm and microtubule. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_024803.3

Inheritance

ClinVar variants

U:76B:12

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.86

Max pathogenic AF

—

Genomic locus

chr10:5,393,101-5,404,828

External References & Databases

Ensembl (ENSG00000178462)

Transcript & Mutation Effects

hg38 • Region Span ~11.7 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

complex neurodevelopmental disorderLIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0100038

Submitter: Ambry Genetics

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to TUBAL3 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 80

not providedTotal: 9

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_024803.3. 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				3 clinvar	2 clinvar	5
missense			76 clinvar	6 clinvar	1 clinvar	83
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	76	9	3	88

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 6 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_024803.3	RefSeq	NP_079079.1	4	MANE Select
ENST00000380419.8	Ensembl	ENSP00000369784.3	4	MANE Select
NM_001171864.2	RefSeq	NP_001165335.1	4	Standard
ENST00000479328.1	Ensembl	ENSP00000418799.1	4	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

Molecular Function

GTPase activity
structural constituent of cytoskeleton
GTP binding

Cellular Component

cytoplasm
microtubule

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000380419
Coding exons: 4
Length: 11733
Individuals with no LoFs: 125678
Homozygous LoFs: 0
Heterozygous LoFs: 70
Defined: 125748
p: 0.000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.318	283	268	1.05	0.0000159	2917
Missense (PolyPhen)		117	108	1.0834		1280
Synonymous	-0.0666	108	107	1.01	0.00000684	896
Loss of Function	0.483	12	13.9	0.860	7.59e-7	164

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00088	0.00086	rare
Latino/Admixed American	0.00021	0.00020	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00022	0.00022	rare
Finnish	0.000046	0.000046	rare
European (Non-Finnish)	0.00036	0.00035	rare
South Asian	0.000098	0.000098	rare
Other	0.00016	0.00016	rare

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 (By similarity). {ECO:0000250}.;

Recessive Scores

pRec: 0.154

Intolerance Scores

LoFtool: 0.141
RVIS EVS: -0.57
RVIS percentile EVS: 18.96

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.129

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium