IRGC

protein-coding

immunity related GTPase cinema

Gene summary

Predicted to enable GTP binding activity and GTPase activity. Predicted to be involved in positive regulation of flagellated sperm motility. Located in lipid droplet and sperm mitochondrial sheath. [provided by Alliance of Genome Resources, Jul 2025]

Previous symbols:

IRGC1

MANE transcript

NM_019612.4

Inheritance

—

ClinVar variants

U:69B:6

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.36

Max pathogenic AF

—

Genomic locus

chr19:43,716,076-43,720,021

External References & Databases

Ensembl (ENSG00000124449)

Transcript & Mutation Effects

hg38 • Region Span ~3.9 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 IRGC variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 71

not providedTotal: 4

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_019612.4. 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				2 clinvar	2 clinvar	4
missense			69 clinvar	2 clinvar		71
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	69	4	2	75

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_019612.4	RefSeq	NP_062558.1	1	MANE Select
ENST00000244314.6	Ensembl	ENSP00000244314.5	1	MANE Select
ENST00000596627.1	Ensembl	ENSP00000471425.1	1	Standard
XM_005259058.4	RefSeq	XP_005259115.1	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Molecular Function

GTPase activity
GTP binding

Cellular Component

membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000244314
Coding exons: 1
Length: 4012
Individuals with no LoFs: 125597
Homozygous LoFs: 0
Heterozygous LoFs: 12
Defined: 125609
p: 0.0000478

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.14	268	326	0.822	0.0000234	2928
Missense (PolyPhen)		117	149.44	0.78291		1309
Synonymous	-1.22	179	159	1.12	0.0000127	1036
Loss of Function	2.00	4	11.2	0.357	5.65e-7	120

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0.000055	0.000054	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.000063	0.000062	rare
South Asian	0.000099	0.000098	rare
Other	0.00017	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Intolerance Scores

LoFtool: 0.472
RVIS EVS: -0.11
RVIS percentile EVS: 45.49

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.303

Gene Damage Prediction

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