TUBGCP3

protein-coding

tubulin gamma complex associated protein 3, the group of Tubulin gamma complex associated protein family

Gene summary

Enables gamma-tubulin binding activity. Predicted to be involved in meiotic cell cycle; microtubule cytoskeleton organization; and mitotic cell cycle. Located in cytoplasm and microtubule cytoskeleton. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_006322.6

Inheritance

—

ClinVar variants

U:103B:6

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.22

Max pathogenic AF

—

Genomic locus

chr13:112,485,011-112,588,205

External References & Databases

Ensembl (ENSG00000126216)

Transcript & Mutation Effects

hg38 • Region Span ~103.2 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 TUBGCP3 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 103

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_006322.6. 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		3
missense			99 clinvar	3 clinvar		102
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			4 clinvar			4
Total	0	0	103	6	0	109

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 66 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_006322.6	RefSeq	NP_006313.1	22	MANE Select
ENST00000261965.8	Ensembl	ENSP00000261965.3	22	MANE Select
NM_001286277.2	RefSeq	NP_001273206.1	22	Standard
NM_001286278.2	RefSeq	NP_001273207.1	21	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Recruitment of mitotic centrosome proteins and complexes
Centrosome maturation
G2/M Transition
Mitotic G2-G2/M phases
Recruitment of NuMA to mitotic centrosomes

Biological Process

mitotic cell cycle
microtubule nucleation
single fertilization
cytoplasmic microtubule organization
spindle assembly

Molecular Function

structural molecule activity
structural constituent of cytoskeleton
protein binding
gamma-tubulin binding
microtubule minus-end binding

Cellular Component

equatorial microtubule organizing center
gamma-tubulin complex
cytoplasm
centrosome
centriole

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000261965
Coding exons: 22
Length: 103157
Individuals with no LoFs: 125711
Homozygous LoFs: 0
Heterozygous LoFs: 37
Defined: 125748
p: 0.000147

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	2.52	353	513	0.688	0.0000294	5932
Missense (PolyPhen)		38	97.057	0.39152		1198
Synonymous	0.765	180	194	0.930	0.0000113	1728
Loss of Function	5.50	13	58.4	0.223	0.00000348	622

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000065	0.000062	rare
Latino/Admixed American	0.00014	0.00014	rare
Ashkenazi Jewish	0.000099	0.000099	rare
East Asian	0.000054	0.000054	rare
Finnish	0.000095	0.000092	rare
European (Non-Finnish)	0.00019	0.00018	rare
South Asian	0.00016	0.00016	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Gamma-tubulin complex is necessary for microtubule nucleation at the centrosome.;

Recessive Scores

pRec: 0.135

Intolerance Scores

RVIS EVS: -1.51
RVIS percentile EVS: 3.5

Essentials

Essential (CRISPR): N
Essential (CRISPR2): E
Essential (gene trap): E
Indispensability pred.: E
Indispensability score: 0.829

Gene Damage Prediction

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