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6 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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NUGGC
nuclear GTPase, germinal center associated
Chromosome 8 · 8p21.1
NCBI Gene: 389643Ensembl: ENSG00000189233.13HGNC: HGNC:33550UniProt: Q68CJ6
12PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cellular response to lipopolysaccharideregulation of nuclear cell cycle DNA replicationnegative regulation of apoptotic processGTPase activityvenous thromboembolismtype 1 diabetes mellitusobesityovarian neoplasm
✦AI Summary

NUGGC is a nuclear GTPase selectively expressed in germinal center B cells where it functions to inhibit activation-induced cytidine deaminase (AICDA) 1. The protein localizes to nuclear replication factories and reduces somatic hypermutation in B cells, thereby enhancing genome stability 1. NUGGC knockdown increases DNA breaks and apoptosis through AID-dependent mechanisms, suggesting it plays a critical protective role during antibody diversification 1. Clinically, NUGGC has emerged as a disease-associated gene across multiple pathologies. Copy number variations (CNVs) encompassing NUGGC are strongly associated with umbilical hernia pathogenesis in pigs and have been implicated in human omphalocele and inguinal hernia 2. NUGGC was identified as a novel susceptibility locus for venous thromboembolism in a large genome-wide association study 3, and differential expression of NUGGC correlates with diet-induced obesity in animal models 4. Additionally, NUGGC fusion with BCOR has been documented in endometrial stromal sarcomas 5. These diverse associations suggest NUGGC dysfunction contributes to multiple disease phenotypes beyond its characterized B-cell immunological function, though the molecular mechanisms in non-B-cell contexts remain unclear.

Sources cited
1
NUGGC is a nuclear GTPase expressed in germinal center B cells that inhibits AID, localizes to replication factories, and reduces somatic hypermutation
PMID: 19734146
2
CNVs encompassing NUGGC are associated with umbilical hernia in pigs and implicated in human omphalocele and inguinal hernia
PMID: 27028052
3
NUGGC/SCARA5 locus identified as a novel susceptibility locus for venous thromboembolism
PMID: 31420334
4
NUGGC is differentially expressed in diet-induced obesity in dogs
PMID: 34381138
5
BCOR-NUGGC fusion identified in endometrial stromal sarcomas
PMID: 32156473
Disease Associationsⓘ20
venous thromboembolismOpen Targets
0.40Weak
type 1 diabetes mellitusOpen Targets
0.29Weak
obesityOpen Targets
0.06Suggestive
ovarian neoplasmOpen Targets
0.06Suggestive
COVID-19Open Targets
0.05Suggestive
drug allergyOpen Targets
0.04Suggestive
hemolytic anemiaOpen Targets
0.04Suggestive
liver diseaseOpen Targets
0.03Suggestive
placental retentionOpen Targets
0.03Suggestive
gastric carcinomaOpen Targets
0.02Suggestive
brucellosisOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
colorectal cancerOpen Targets
0.01Suggestive
idiopathic pulmonary fibrosisOpen Targets
0.01Suggestive
cancerOpen Targets
0.00Suggestive
ovarian cancerOpen Targets
0.00Suggestive
lymphomaOpen Targets
0.00Suggestive
Inguinal herniaOpen Targets
0.00Suggestive
omphaloceleOpen Targets
0.00Suggestive
acute myeloid leukemiaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NAA38Shared pathway50%NAA35Shared pathway50%GMEB1Shared pathway50%API5Shared pathway50%ANXA5Shared pathway33%RNF157Shared pathway33%
Tissue Expression6 tissues
Liver
100%
Lung
6%
Ovary
4%
Bone Marrow
2%
Brain
1%
Heart
1%
Gene Interaction Network
Click a node to explore
NUGGCNAA38NAA35GMEB1API5ANXA5RNF157
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q68CJ6
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.76LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.57 [0.43–0.76]
RankingsWhere NUGGC stands among ~20K protein-coding genes
  • #16,514of 20,598
    Most Researched12
  • #6,159of 17,882
    Most Constrained (LOEUF)0.76
Genes detectedNUGGC
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
A genome-wide association study of copy number variations with umbilical hernia in swine.
PMID: 27028052
Anim Genet · 2016
1.00
2
Effect of black ginseng and silkworm supplementation on obesity, the transcriptome, and the gut microbiome of diet-induced overweight dogs.
PMID: 34381138
Sci Rep · 2021
0.83
3
Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism.
PMID: 31420334
Blood · 2019
0.67
4
Re-testing reported significant SNPs related to suicide in a historical high -risk isolated population from north east India.
PMID: 32680568
Hereditas · 2020
0.50
5
Genomic profiling of BCOR-rearranged uterine sarcomas reveals novel gene fusion partners, frequent CDK4 amplification and CDKN2A loss.
PMID: 32156473
Gynecol Oncol · 2020
0.33