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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
LIMS2
LIM zinc finger domain containing 2
Chromosome 2 Β· 2q14.3
NCBI Gene: 55679Ensembl: ENSG00000072163.21HGNC: HGNC:16084UniProt: B3KNZ3
34PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
focal adhesioncell-cell adhesionpositive regulation of integrin-mediated signaling pathwaycytoplasmautosomal recessive limb-girdle muscular dystrophy type 2Wautosomal recessive limb-girdle muscular dystrophyclear cell renal carcinomarenal carcinoma
✦AI Summary

LIMS2 (LIM zinc finger domain containing 2) functions as an adapter protein that links beta-integrins to the actin cytoskeleton and bridges cellular complexes to receptor tyrosine kinases, playing a crucial role in cell spreading and migration 1. The protein is part of the integrin-linked kinase (ILK)-LIMS-parvin complex at focal adhesions, where it regulates cell adhesion and motility 2. LIMS2 expression is frequently silenced through CpG island hypermethylation in various cancers, including gastric cancer (91% of cell lines) and cervical cancer, where its loss promotes tumor cell migration and progression 13. The gene serves as a tumor suppressor, with restoration of expression inhibiting cancer cell migration 1. LIMS2 mutations cause a severe autosomal recessive muscular dystrophy characterized by childhood-onset weakness progressing to quadriparesis, biventricular cardiac dysfunction, and distinctive triangular tongues 2. In bladder cancer, LIMS2 downregulation is associated with immune dysregulation and poor prognosis 4. The protein's role in apoptosis regulation is evidenced by its upregulation following heparanase silencing in melanoma cells 5. These findings establish LIMS2 as both a critical regulator of cell-matrix interactions and a potential therapeutic target in cancer and muscular dystrophy.

Sources cited
1
LIMS2 functions at focal adhesions regulating cell spreading and migration, is frequently silenced by hypermethylation in gastric cancer, and acts as a tumor suppressor
PMID: 16959213
2
LIMS2 mutations cause autosomal recessive muscular dystrophy with severe cardiomyopathy and triangular tongues, disrupting the ILK-LIMS-parvin complex
PMID: 25589244
3
LIMS2 methylation is regulated by DNMT3A in cervical cancer and its restoration inhibits tumor progression
PMID: 35708510
4
LIMS2 downregulation is associated with bladder cancer and immune dysregulation
PMID: 40755754
5
LIMS2 is upregulated during apoptosis following heparanase silencing in melanoma cells
PMID: 31044520
Disease Associationsβ“˜21
autosomal recessive limb-girdle muscular dystrophy type 2WOpen Targets
0.55Moderate
autosomal recessive limb-girdle muscular dystrophyOpen Targets
0.47Moderate
clear cell renal carcinomaOpen Targets
0.21Weak
renal carcinomaOpen Targets
0.13Weak
Decreased total lymphocyte countOpen Targets
0.11Weak
Decreased total neutrophil countOpen Targets
0.11Weak
lymphopeniaOpen Targets
0.11Weak
neutropeniaOpen Targets
0.11Weak
osteosarcomaOpen Targets
0.07Suggestive
lung adenocarcinomaOpen Targets
0.04Suggestive
colorectal cancerOpen Targets
0.03Suggestive
urinary bladder carcinomaOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
gastric cancerOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
non-small cell lung carcinomaOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
autismOpen Targets
0.01Suggestive
small cell lung carcinomaOpen Targets
0.01Suggestive
cervical cancerOpen Targets
0.01Suggestive
Muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongueUniProt
Pathogenic Variants3
NM_001161403.3(LIMS2):c.430del (p.His144fs)Likely pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2W
β˜…β˜†β˜†β˜†2024β†’ Residue 144
NM_001161403.3(LIMS2):c.238+1G>TLikely pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2W
β˜…β˜†β˜†β˜†
NM_001161403.3(LIMS2):c.968T>C (p.Leu323Pro)Pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2W
β˜†β˜†β˜†β˜†2021β†’ Residue 323
View on ClinVar β†—
Related Genes
ILKProtein interaction100%PARVAProtein interaction97%RSU1Protein interaction92%PARVBProtein interaction86%PARVGProtein interaction78%AJM1Shared pathway33%
Tissue Expression6 tissues
Heart
100%
Lung
70%
Liver
38%
Ovary
13%
Brain
4%
Bone Marrow
1%
Gene Interaction Network
Click a node to explore
LIMS2ILKPARVARSU1PARVBPARVGAJM1
PROTEIN STRUCTURE
Preparing viewer…
PDB3IXE Β· 1.90 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.98LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.73 [0.55–0.98]
RankingsWhere LIMS2 stands among ~20K protein-coding genes
  • #11,181of 20,598
    Most Researched34
  • #4,103of 5,498
    Most Pathogenic Variants3
  • #9,434of 17,882
    Most Constrained (LOEUF)0.98
Genes detectedLIMS2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
1.00
2
Mesenchymal stem cell-derived extracellular vesicles alleviate cervical cancer by delivering microRNA-331-3p to reduce LIM zinc finger domain containing 2 methylation in tumor cells.
PMID: 35708510
Hum Mol Genet Β· 2022
0.90
3
The epigenetic silencing of LIMS2 in gastric cancer and its inhibitory effect on cell migration.
PMID: 16959213
Biochem Biophys Res Commun Β· 2006
0.80
4
Prognostic Value of an Integrin-Based Signature in Hepatocellular Carcinoma and the Identification of Immunological Role of LIMS2.
PMID: 36212176
Dis Markers Β· 2022
0.70
5
LIMS2 mutations are associated with a novel muscular dystrophy, severe cardiomyopathy and triangular tongues.
PMID: 25589244
Clin Genet Β· 2015
0.60