IRGQ

protein-coding

immunity related GTPase Q

Gene summary

Enables protein-macromolecule adaptor activity. Involved in positive regulation of autophagy; protein quality control for misfolded or incompletely synthesized proteins; and substrate localization to autophagosome. Is active in autophagosome and lysosome. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

IRGQ1

MANE transcript

NM_001007561.3

Inheritance

—

ClinVar variants

U:78B:1

Top phenotype

Prostate cancer

gnomAD constraint

pLI —, LoF o/e 0.4

Max pathogenic AF

—

Genomic locus

chr19:43,584,367-43,596,134

External References & Databases

Ensembl (ENSG00000167378)

Transcript & Mutation Effects

hg38 • Region Span ~11.8 kb

Loading mutation effect viewer...

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 IRGQ variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 77

Prostate cancerTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001007561.3. 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			77 clinvar	1 clinvar		78
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	78	1	0	79

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 10 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001007561.3	RefSeq	NP_001007562.1	2	MANE Select
ENST00000422989.6	Ensembl	ENSP00000387535.1	2	MANE Select
NM_001388309.1	RefSeq	NP_001375238.1	2	Standard
ENST00000602269.2	Ensembl	ENSP00000472250.1	2	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

GTP binding

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000422989
Coding exons: 2
Length: 11767
Individuals with no LoFs: 125692
Homozygous LoFs: 0
Heterozygous LoFs: 56
Defined: 125748
p: 0.000223

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.64	317	410	0.772	0.0000266	3797
Missense (PolyPhen)		119	197.6	0.60224		1897
Synonymous	1.81	172	205	0.839	0.0000151	1526
Loss of Function	2.33	7	17.5	0.399	0.00000107	161

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00033	0.00031	rare
Latino/Admixed American	0.00041	0.00040	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00039	0.00027	rare
Finnish	0.00044	0.00037	rare
European (Non-Finnish)	0.00022	0.00019	rare
South Asian	0	0.0	absent
Other	0.00035	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.100

Intolerance Scores

LoFtool: 0.448
RVIS EVS: 0.17
RVIS percentile EVS: 65.96

Essentials

Essential (CRISPR): N
Essential (CRISPR2): S
Indispensability pred.: E
Indispensability score: 0.704

Gene Damage Prediction

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