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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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LIM2
lens intrinsic membrane protein 2
Chromosome 19 Β· 19q13.41
NCBI Gene: 3982Ensembl: ENSG00000105370.9HGNC: HGNC:6610UniProt: P55344
22PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
plasma membranecell-cell junction assemblycell junctionmembraneearly-onset non-syndromic cataractTotal congenital cataractcataracttotal early-onset cataract
✦AI Summary

LIM2 (lens intrinsic membrane protein 2) is a transmembrane protein located on chromosome 19.4 1 that represents the second most abundant protein in the lens 2. Structurally, LIM2 contains four transmembrane domains 3 and localizes to the thicker 16-17 nm junctions of lens fiber cells, where it contributes to cell junctional organization and acts as a calmodulin receptor. The protein plays a critical role in lens fiber cell structure and intercellular communication 1. LIM2 mutations are a major genetic cause of congenital cataract, with both autosomal dominant and recessive inheritance patterns documented 45. The recurrent R130C substitution represents a mutation hotspot, identified across multiple ethnic populations (UK, Czechia, China, Spain, Japan) with diverse phenotypes including nuclear pulverulent, membranous, lamellar, and sutural/lamellar cataracts 42. A Gly154Glu missense mutation causes severe autosomal recessive congenital cataracts through presumed loss of MP19 protein function 5. Clinically, LIM2 mutations are associated with early-onset visual impairment and represent an important component of genetic heterogeneity in hereditary cataract 6. The expanding mutation spectrum across diverse populations highlights LIM2's essential role in lens development and cataractogenesis.

Sources cited
1
LIM2 gene location on chromosome 19q13.4 and its role in lens fiber cell structure/communication and cataractogenesis
PMID: 8197479
2
LIM2 as the second most abundant lens protein; R130C variant causes autosomal dominant sutural/lamellar cataract
PMID: 35736209
3
LIM2 protein structure containing four transmembrane domains; gene organization and tissue-specific expression
PMID: 11290961
4
R130C as recurrent mutation hotspot in LIM2 across multiple ethnic populations with phenotypic heterogeneity
PMID: 38178039
5
Gly154Glu missense mutation in LIM2 causes autosomal recessive congenital cataract through loss of function
PMID: 18596884
6
LIM2 mutations as important cause of congenital cataracts during lens maturation stages
PMID: 15558493
Disease Associationsβ“˜21
early-onset non-syndromic cataractOpen Targets
0.61Moderate
Total congenital cataractOpen Targets
0.40Weak
cataractOpen Targets
0.38Weak
neurodegenerative diseaseOpen Targets
0.37Weak
total early-onset cataractOpen Targets
0.37Weak
genetic disorderOpen Targets
0.19Weak
lens diseaseOpen Targets
0.12Weak
Cataract-microcornea syndromeOpen Targets
0.11Weak
early-onset nuclear cataractOpen Targets
0.11Weak
early-onset zonular cataractOpen Targets
0.11Weak
Partial congenital cataractOpen Targets
0.11Weak
pulverulent cataractOpen Targets
0.11Weak
isolated ectopia lentisOpen Targets
0.10Weak
hereditary hyperferritinemia with congenital cataractsOpen Targets
0.10Weak
cataract 13 with adult I phenotypeOpen Targets
0.10Weak
cataract 38Open Targets
0.10Weak
cataract 35Open Targets
0.10Weak
Cataract with Y-shaped suture opacitiesOpen Targets
0.10Suggestive
Posterior polar cataractOpen Targets
0.10Suggestive
Anterior polar cataractOpen Targets
0.09Suggestive
Cataract, multiple types 19UniProt
Pathogenic Variants3
NM_001161748.2(LIM2):c.388C>T (p.Arg130Cys)Pathogenic
Cataract|Cataract 19 multiple types|not provided|LIM2-related disorder
β˜…β˜…β˜†β˜†2023β†’ Residue 130
NM_001161748.2(LIM2):c.461G>A (p.Gly154Glu)Pathogenic
Cataract 19 multiple types
β˜†β˜†β˜†β˜†2016β†’ Residue 154
NM_001161748.2(LIM2):c.313T>G (p.Phe105Val)Pathogenic
Cataract 19 multiple types
β˜†β˜†β˜†β˜†2002β†’ Residue 105
View on ClinVar β†—
Related Genes
ATP5F1AProtein interaction100%ATP5F1CProtein interaction100%ATP6V1HProtein interaction100%ATP6V1E2Protein interaction100%ATP6V0D2Protein interaction100%ATP6V0D1Protein interaction100%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
29%
Heart
0%
Ovary
0%
Liver
0%
Brain
0%
Gene Interaction Network
Click a node to explore
LIM2ATP5F1AATP5F1CATP6V1HATP6V1E2ATP6V0D2ATP6V0D1
PROTEIN STRUCTURE
Preparing viewer…
PDB9CBV Β· 3.50 Γ… Β· EM
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.08LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.69 [0.46–1.08]
RankingsWhere LIM2 stands among ~20K protein-coding genes
  • #13,687of 20,598
    Most Researched22
  • #4,145of 5,498
    Most Pathogenic Variants3
  • #10,955of 17,882
    Most Constrained (LOEUF)1.08
Genes detectedLIM2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Congenital hereditary cataracts.
PMID: 15558493
Int J Dev Biol Β· 2004
1.00
2
Novel and known variants in GJA3 and LIM2 in congenital cataract families from North India.
PMID: 38178039
BMC Genomics Β· 2024
0.90
3
Assignment of the human lens fiber cell MP19 gene (LIM2) to chromosome 19q13.4, and adjacent to ETFB.
PMID: 8197479
Somat Cell Mol Genet Β· 1994
0.80
4
A recurrent variant in
PMID: 35736209
Ophthalmic Genet Β· 2022
0.70
5
Cesarean delivery and blood DNA methylation at birth and childhood: Meta-analysis in the Pregnancy and Childhood Epigenetics Consortium.
PMID: 39602535
Sci Adv Β· 2024
0.60