NUGGC

protein-coding

nuclear GTPase, germinal center associated

Gene summary

Enables GTPase activity. Involved in cellular response to lipopolysaccharide; negative regulation of apoptotic process; and regulation of nuclear cell cycle DNA replication. Located in nuclear speck. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:

C8orf80

MANE transcript

NM_001010906.2

Inheritance

—

ClinVar variants

U:124B:5

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.61

Max pathogenic AF

—

Genomic locus

chr8:28,021,964-28,083,936

External References & Databases

Ensembl (ENSG00000189233)

Transcript & Mutation Effects

hg38 • Region Span ~62.0 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 NUGGC variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 117

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001010906.2. 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	2 clinvar		3
missense			119 clinvar	3 clinvar		122
nonsense			2 clinvar			2
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	124	5	0	129

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 14 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001010906.2	RefSeq	NP_001010906.1	18	MANE Select
ENST00000413272.7	Ensembl	ENSP00000408697.2	18	MANE Select
ENST00000418860.1	Ensembl	ENSP00000388515.1	3	Standard
ENST00000952401.1	Ensembl	ENSP00000622460.1	17	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

regulation of nuclear cell cycle DNA replication
negative regulation of apoptotic process
cellular response to lipopolysaccharide

Molecular Function

GTPase activity
GTP binding

Cellular Component

nuclear speck

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000413272
Coding exons: 18
Length: 61908
Individuals with no LoFs: 124608
Homozygous LoFs: 0
Heterozygous LoFs: 44
Defined: 124652
p: 0.000177

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.826	378	426	0.887	0.0000230	5171
Missense (PolyPhen)		80	94.741	0.84441		1237
Synonymous	-0.301	171	166	1.03	0.00000946	1455
Loss of Function	2.34	25	41.2	0.606	0.00000205	517

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00014	0.00013	rare
Latino/Admixed American	0.00020	0.00020	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00017	0.00017	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00020	0.00020	rare
South Asian	0.00027	0.00026	rare
Other	0.00017	0.00017	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Nuclear GTPase found in germinal center B-cells, where it may inhibit function of the activation-induced cytidine deaminase AICDA (PubMed:19734146). Reduces somatic hypermutation in B-cells which may enhance genome stability (By similarity). {ECO:0000250|UniProtKB:D3YWJ0, ECO:0000269|PubMed:19734146}.;

Intolerance Scores

RVIS EVS: 0.67
RVIS percentile EVS: 84.75

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N

Gene Damage Prediction

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