TUBG2

protein-coding

tubulin gamma 2, the group of Tubulins

Gene summary

Predicted to enable GTP binding activity and microtubule nucleator activity. Predicted to be involved in microtubule cytoskeleton organization and mitotic sister chromatid segregation. Located in centriolar satellite and microtubule. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_016437.3

Inheritance

—

ClinVar variants

U:40

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.5

Max pathogenic AF

—

Genomic locus

chr17:42,659,284-42,667,006

External References & Databases

Ensembl (ENSG00000037042)

Transcript & Mutation Effects

hg38 • Region Span ~7.7 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 TUBG2 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 36

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_016437.3. 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			1 clinvar			1
missense			38 clinvar			38
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	40	0	0	40

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 46 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_016437.3	RefSeq	NP_057521.1	11	MANE Select
ENST00000251412.8	Ensembl	ENSP00000251412.6	11	MANE Select
NM_001320509.2	RefSeq	NP_001307438.1	12	Standard
ENST00000854884.1	Ensembl	ENSP00000524943.1	12	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Human papillomavirus infection - Homo sapiens (human)
Recruitment of mitotic centrosome proteins and complexes
Centrosome maturation
G2/M Transition
Mitotic G2-G2/M phases

Biological Process

mitotic sister chromatid segregation
meiotic spindle organization
microtubule cytoskeleton organization
mitotic cell cycle
microtubule-based process

Molecular Function

GTPase activity
structural molecule activity
structural constituent of cytoskeleton
GTP binding

Cellular Component

pericentriolar material
gamma-tubulin complex
nucleus
cytoplasm
centrosome

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000251412
Coding exons: 11
Length: 7702
Individuals with no LoFs: 125687
Homozygous LoFs: 0
Heterozygous LoFs: 61
Defined: 125748
p: 0.000243

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.44	167	283	0.591	0.0000173	2966
Missense (PolyPhen)		61	111.62	0.54652		1227
Synonymous	-1.18	133	117	1.14	0.00000734	873
Loss of Function	2.30	12	24.2	0.496	0.00000129	247

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00019	0.00018	rare
Latino/Admixed American	0.00020	0.00020	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0.00011	0.00011	rare
Finnish	0.00014	0.00014	rare
European (Non-Finnish)	0.00026	0.00025	rare
South Asian	0.00049	0.00049	rare
Other	0.00017	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Tubulin is the major constituent of microtubules. The gamma chain is found at microtubule organizing centers (MTOC) such as the spindle poles or the centrosome. Pericentriolar matrix component that regulates alpha/beta chain minus-end nucleation, centrosome duplication and spindle formation (By similarity). {ECO:0000250}.;

Intolerance Scores

LoFtool: 0.479
RVIS EVS: -0.67
RVIS percentile EVS: 15.76

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.648

Gene Damage Prediction

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