TUBGCP5

protein-coding

tubulin gamma complex associated protein 5, the group of Tubulin gamma complex associated protein family

Gene summary

Enables microtubule binding activity. Involved in microtubule nucleation. Located in centrosome. Part of gamma-tubulin ring complex. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_052903.6

Inheritance

—

ClinVar variants

U:144B:20

Top phenotype

Microcephaly

Max pathogenic AF

—

Genomic locus

chr15:22,983,192-23,039,572

External References & Databases

Ensembl (ENSG00000275835)

Transcript & Mutation Effects

hg38 • Region Span ~56.4 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 TUBGCP5 variants in ClinVar

3 Conditions Cataloged

not specifiedTotal: 134

not providedTotal: 20

MicrocephalyTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_052903.6. 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			1 clinvar	9 clinvar	4 clinvar	14
missense			136 clinvar	6 clinvar	1 clinvar	143
nonsense						0
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			6 clinvar			6
Total	0	0	144	15	5	164

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 50 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_052903.6	RefSeq	NP_443135.3	23	MANE Select
ENST00000615383.5	Ensembl	ENSP00000480316.1	23	MANE Select
NM_001102610.2	RefSeq	NP_001096080.1	22	Standard
NM_001354372.2	RefSeq	NP_001341301.1	23	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Prader-Willi and Angelman Syndrome
Recruitment of mitotic centrosome proteins and complexes
Centrosome maturation
G2/M Transition
Mitotic G2-G2/M phases

Biological Process

mitotic cell cycle
microtubule nucleation
cytoplasmic microtubule organization
spindle assembly
meiotic cell cycle

Molecular Function

microtubule binding
gamma-tubulin binding
microtubule minus-end binding

Cellular Component

spindle pole
equatorial microtubule organizing center
gamma-tubulin complex
centrosome
cytosol

dbNSFP Gene Annotations

Source: dbNSFP

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

Recessive Scores

pRec: 0.116

Intolerance Scores

LoFtool: 0.961
RVIS EVS: -0.77
RVIS percentile EVS: 13.15

Essentials

Essential (CRISPR): E
Essential (CRISPR2): E
Essential (gene trap): E
Indispensability pred.: E
Indispensability score: 0.917

Gene Damage Prediction

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