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4 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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LRRC49
leucine rich repeat containing 49
Chromosome 15 · 15q23
NCBI Gene: 54839Ensembl: ENSG00000137821.12HGNC: HGNC:25965UniProt: B7Z7G0
35PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
centriolar satellitemicrotubulecytoskeletonsinusitisPhenotypic abnormalityovarian dysfunctionAbnormal pupillary function
✦AI Summary

LRRC49 is a leucine-rich repeat protein that functions as a subunit of the tubulin polyglutamylase complex (TPGC), which mediates polyglutamylation of cilia and flagella—a process essential for their biogenesis and motility. The protein localizes to centriolar satellites and associates with microtubules. In kidney tissue, LRRC49 is highly enriched in podocyte foot processes, suggesting specialized roles in epithelial cell organization 1. Disease relevance includes pancreatic cancer, where LRRC49 was identified as part of a seven-gene prognostic signature that stratifies patients into distinct risk groups with differential survival outcomes and immune infiltration patterns 2. In breast cancer, LRRC49 expression is frequently reduced through bidirectional promoter hypermethylation (57.5% of tumors), with reduced expression correlating with hypermethylation status; the gene is co-regulated with THAP10 and responds to estrogen stimulation 3. LRRC49 variants also show association with coronary artery disease susceptibility in East Asian populations 4. These findings suggest LRRC49 functions beyond cilia/flagella biology, with potential roles in cell differentiation and cancer-related processes, though mechanistic details remain to be elucidated.

Sources cited
1
LRRC49 is part of a seven-gene machine learning prognostic model for pancreatic cancer that stratifies patients into high/low-risk groups with distinct survival, mutation burdens, and immune infiltration
PMID: 41050689
2
LRRC49 is a podocyte-enriched protein located in foot processes, identified in context of glomerular filtration barrier components
PMID: 26377798
3
LRRC49 locus (LARP6-LRRC49) shows evidence of association with coronary artery disease risk in Taiwanese population at false discovery rate >5%
PMID: 26982883
4
LRRC49 expression is reduced in 61% of primary breast tumors; promoter hypermethylation silences LRRC49 (and THAP10) in 57.5% of tumors with inverse correlation between mRNA expression and hypermethylation; the gene is estrogen-responsive
PMID: 18575747
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
Phenotypic abnormalityOpen Targets
0.28Weak
sinusitisOpen Targets
0.28Weak
ovarian dysfunctionOpen Targets
0.26Weak
Abnormal pupillary functionOpen Targets
0.24Weak
multiple sclerosisOpen Targets
0.24Weak
cardiomyopathyOpen Targets
0.22Weak
benign chondrogenic neoplasmOpen Targets
0.05Suggestive
chronic obstructive pulmonary diseaseOpen Targets
0.04Suggestive
asthmaOpen Targets
0.03Suggestive
estrogen-receptor positive breast cancerOpen Targets
0.03Suggestive
breast carcinomaOpen Targets
0.03Suggestive
HER2 negative breast carcinomaOpen Targets
0.03Suggestive
progesterone-receptor positive breast cancerOpen Targets
0.03Suggestive
heart diseaseOpen Targets
0.03Suggestive
frozen shoulderOpen Targets
0.02Suggestive
poisoningOpen Targets
0.02Suggestive
Chronic Obstructive AsthmaOpen Targets
0.02Suggestive
placental retentionOpen Targets
0.02Suggestive
breast cancerOpen Targets
0.01Suggestive
lung adenocarcinomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
TPGS2Protein interaction99%TPGS1Protein interaction97%NICN1Protein interaction83%TTLL1Protein interaction80%TBC1D19Protein interaction80%EIF3FProtein interaction71%
Tissue Expression6 tissues
Heart
100%
Brain
22%
Ovary
19%
Lung
4%
Liver
1%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
LRRC49TPGS2TPGS1NICN1TTLL1TBC1D19EIF3F
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8IUZ0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.84LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.57 [0.40–0.84]
RankingsWhere LRRC49 stands among ~20K protein-coding genes
  • #11,004of 20,598
    Most Researched35
  • #7,230of 17,882
    Most Constrained (LOEUF)0.84
Genes detectedLRRC49
Sources retrieved4 papers
Response time—
📄 Sources
4
1
Single-cell and multi-omics analysis identifies TRIM9 as a key ubiquitination regulator in pancreatic cancer.
PMID: 41050689
Front Immunol · 2025
1.00
2
Knockdown of Tmem234 in zebrafish results in proteinuria.
PMID: 26377798
Am J Physiol Renal Physiol · 2015
0.75
3
Genetics of Coronary Artery Disease in Taiwan: A Cardiometabochip Study by the Taichi Consortium.
PMID: 26982883
PLoS One · 2016
0.50
4
Silencing of LRRC49 and THAP10 genes by bidirectional promoter hypermethylation is a frequent event in breast cancer.
PMID: 18575747
Int J Oncol · 2008
0.25