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GeneE
4 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
LRRC69
leucine rich repeat containing 69
Chromosome 8 Β· 8q21.3
NCBI Gene: 100130742Ensembl: ENSG00000214954.9HGNC: HGNC:34303UniProt: Q6ZNQ3
4PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
intracellular signal transductionneurodegenerative diseaseheart valve diseaseinsomniatype 1 diabetes mellitus
✦AI Summary

LRRC69 (leucine rich repeat containing 69) is a testis-specific gene involved in spermatogenic function and intracellular signal transduction. A novel recurrent intragenic deletion in LRRC69 was significantly overrepresented in men with spermatogenic failure (SPGF), occurring in 3.3% of SPGF patients versus 0.85% in the general population (OR = 3.9, P = 0.0001) 1. This deletion is associated with oligozoospermia and reduced testicular volume in affected individuals 1. At the molecular level, LRRC69 is implicated in spermiogenesis regulation, with proteomic studies demonstrating that LRRC69 abundance changes in response to glycoprotein hormone signaling during late spermatid development 2. Beyond reproductive function, LRRC69 has been identified as a key prognostic gene associated with colorectal cancer progression, showing significant correlation with survival outcomes at 1-, 3-, and 5-year timepoints 3. Clinically, LRRC69 deletion screening in infertile men may improve reproductive health management and genetic counseling, while its role in CRC progression suggests potential as a biomarker for cancer risk stratification and therapeutic targeting.

Sources cited
1
Novel recurrent intragenic LRRC69 deletion is significantly overrepresented in spermatogenic failure patients (3.3% vs 0.85%, OR=3.9, P=0.0001) and associated with oligozoospermia
PMID: 36631630
2
LRRC69 is related to human spermatogenic failure and its abundance is modulated during spermiogenesis in response to glycoprotein hormone signaling
PMID: 41724374
3
LRRC69 is a key gene significantly associated with colorectal cancer progression and predictive of 1-, 3-, and 5-year survival times
PMID: 39909246
4
LRRC69 is among the top upregulated genes in COVID-19 patients retesting positive, involved in immune response pathways
PMID: 35657140
⚠Limited data available β€” This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.30Weak
heart valve diseaseOpen Targets
0.28Weak
insomniaOpen Targets
0.27Weak
type 1 diabetes mellitusOpen Targets
0.23Weak
liver diseaseOpen Targets
0.23Weak
appendicitisOpen Targets
0.20Weak
acute pancreatitisOpen Targets
0.12Weak
smoking initiationOpen Targets
0.05Suggestive
bipolar disorderOpen Targets
0.04Suggestive
oral mucosa leukoplakiaOpen Targets
0.03Suggestive
actinic keratosisOpen Targets
0.03Suggestive
chronic laryngitisOpen Targets
0.02Suggestive
androgenetic alopeciaOpen Targets
0.02Suggestive
adrenoleukodystrophyOpen Targets
0.00Suggestive
X-linked adrenoleukodystrophyOpen Targets
0.00Suggestive
colorectal carcinomaOpen Targets
0.00Suggestive
lung adenocarcinomaOpen Targets
0.00Suggestive
male infertilityOpen Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
ThymomaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
CAPSShared pathway100%MTCP1Shared pathway100%PPP1R1AShared pathway100%TCL1AShared pathway100%SH3BP5Shared pathway100%TCL1BShared pathway100%
Tissue Expression6 tissues
Liver
100%
Lung
78%
Ovary
51%
Bone Marrow
35%
Brain
34%
Heart
28%
Gene Interaction Network
Click a node to explore
LRRC69CAPSMTCP1PPP1R1ATCL1ASH3BP5TCL1B
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q6ZNQ3
View on AlphaFold β†—
RankingsWhere LRRC69 stands among ~20K protein-coding genes
  • #18,610of 20,598
    Most Researched4
Genes detectedLRRC69
Sources retrieved4 papers
Response timeβ€”
πŸ“„ Sources
4
1
Microdeletions and microduplications linked to severe congenital disorders in infertile men.
PMID: 36631630
Sci Rep Β· 2023
1.00
2
Screening the hub genes and analyzing the mechanisms in discharged COVID-19 patients retesting positive through bioinformatics analysis.
PMID: 35657140
J Clin Lab Anal Β· 2022
0.75
3
A comprehensive multi-omics study reveals potential prognostic and diagnostic biomarkers for colorectal cancer.
PMID: 39909246
Int J Biol Macromol Β· 2025
0.50
4
First insight into the regulatory role of the glycoprotein hormones GPA2 and GPB5 in the small-spotted catshark (Scyliorhinus canicula L.) during spermiogenesis.
PMID: 41724374
J Proteomics Β· 2026
0.25