LIM2 (lens intrinsic membrane protein 2)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3982
Gene name Gene Name - the full gene name approved by the HGNC.
Lens intrinsic membrane protein 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
LIM2
Synonyms (NCBI Gene) Gene synonyms aliases
CTRCT19, MP17, MP19
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.41
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes an eye lens-specific protein found at the junctions of lens fiber cells, where it may contribute to cell junctional organization. It acts as a receptor for calmodulin, and may play an important role in both lens development and cataracto
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(3)
SNP ID Visualize variation Clinical significance Consequence
rs121913555 A>C Pathogenic Coding sequence variant, missense variant
rs869312732 C>T Pathogenic Missense variant, coding sequence variant
rs1568480054 G>A Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(15)
miRTarBase ID miRNA Experiments Reference
MIRT018500 hsa-miR-335-5p Microarray 18185580
MIRT1109399 hsa-miR-4514 CLIP-seq
MIRT1109400 hsa-miR-4645-5p CLIP-seq
MIRT1109401 hsa-miR-4652-5p CLIP-seq
MIRT1109402 hsa-miR-4673 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(8)
GO ID Ontology Definition Evidence Reference
GO:0002088 Process Lens development in camera-type eye IEA
GO:0005212 Function Structural constituent of eye lens IEA
GO:0005886 Component Plasma membrane IBA
GO:0007043 Process Cell-cell junction assembly NAS 2584203
GO:0016020 Component Membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
154045 6610 ENSG00000105370
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID P55344
Protein name Lens fiber membrane intrinsic protein (MP18) (MP19) (MP20)
Protein function Present in the thicker 16-17 nm junctions of mammalian lens fiber cells, where it may contribute to cell junctional organization. Acts as a receptor for calmodulin. May play an important role in both lens development and cataractogenesis.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00822 PMP22_Claudin 1 → 157 PMP-22/EMP/MP20/Claudin family Family
Tissue specificity TISSUE SPECIFICITY: Eye lens specific. {ECO:0000269|PubMed:12107413}.
Sequence
Sequence length 173
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cataract Cataract 19 multiple types, cataract rs121913555, rs869312732, rs1568480054 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cortical cataract cortical pulverulent cataract N/A N/A ClinVar
Glaucoma Glaucoma N/A N/A GWAS
Show/Hide Text Mining Associations (11)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adrenocortical Carcinoma Hereditary Associate 38178039
Cataract Associate 18596884, 33923544, 35736209, 38178039
Cataract Age Related Nuclear Associate 21386927
Glioma Associate 22983390, 28055976
Myofibrillar Myopathy Associate 22094483
Myopathies Structural Congenital Associate 20633900
Myopathy Myofibrillar Zasp Related Associate 22094483
Peripheral Nervous System Diseases Associate 22094483
Postoperative Cognitive Complications Associate 36674212
Prostatic Neoplasms Associate 15692560