LIM2 (lens intrinsic membrane protein 2)

Gene

• Entrez ID: 3982
• Gene name: Lens intrinsic membrane protein 2
• Gene symbol: LIM2
• Synonyms (NCBI Gene): CTRCT19, MP17, MP19
• Chromosome: 19
• Chromosome location: 19q13.41
• Summary: 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 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

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
MIRT1109403	hsa-miR-4692	CLIP-seq
MIRT1109404	hsa-miR-4722-3p	CLIP-seq
MIRT1109405	hsa-miR-4755-3p	CLIP-seq
MIRT1109406	hsa-miR-483-5p	CLIP-seq
MIRT2030424	hsa-miR-3135	CLIP-seq
MIRT2030425	hsa-miR-4433	CLIP-seq
MIRT2030426	hsa-miR-665	CLIP-seq
MIRT2030424	hsa-miR-3135	CLIP-seq
MIRT2030425	hsa-miR-4433	CLIP-seq
MIRT2030426	hsa-miR-665	CLIP-seq

Gene ontology (GO)

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
GO:0030054	Component	Cell junction	NAS	2584203
GO:0031982	Component	Vesicle	IEA
GO:0043010	Process	Camera-type eye development	IEA

Other IDs

• MIM: 154045
• HGNC: 6610
• e!Ensembl: ENSG00000105370

Protein

• 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:

  MYSFMGGGLFCAWVGTILLVVAMATDHWMQYRLSGSFAHQGLWRYCLGNKCYLQTDSIAY
  WNATRAFMILSALCAISGIIMGIMAFAHQPTFSRISRPFSAGIMFFSSTLFVVLALAIYT
  GVTVSFLGRRFGDWRFSWSYILGWVAVLMTFFAGIFYMCAYRVHECRRLSTPR

• Sequence length: 173

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Cataract	Likely pathogenic; Pathogenic	rs1568480054	RCV000766206
Cataract 19 multiple types	Pathogenic; Likely pathogenic	rs869312732, rs121913555, rs1568480054	RCV000209996 RCV000015430 RCV001212191
LIM2-related disorder	Likely pathogenic; Pathogenic	rs1568480054	RCV003947967

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Cortical pulverulent cataract	Likely benign	rs2547319	RCV000306442

Associations from Text Mining
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
Vision Disorders	Associate	18596884