LIM2 (lens intrinsic membrane protein 2)

Gene

• Entrez ID: 3982
• Gene name: Lens intrinsic membrane protein 2
• Gene symbol: LIM2
• Synonyms: 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	21873635
GO:0007043	Process	Cell-cell junction assembly	NAS	2584203
GO:0016021	Component	Integral component of membrane	IEA
GO:0030054	Component	Cell junction	NAS	2584203
GO:0031982	Component	Vesicle	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

• Sequence:

  MYSFMGGGLFCAWVGTILLVVAMATDHWMQYRLSGSFAHQGLWRYCLGNKCYLQTDSIAY
  WNATRAFMILSALCAISGIIMGIMAFAHQPTFSRISRPFSAGIMFFSSTLFVVLALAIYT
  GVTVSFLGRRFGDWRFSWSYILGWVAVLMTFFAGIFYMCAYRVHECRRLSTPR

• Sequence length: 173

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Cataract	Cataract, Pseudoaphakia, CATARACT 19, MULTIPLE TYPES, Total early-onset cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692	11917274
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896

Unknown
Disease name	Disease term	dbSNP ID	References
Congenital cataract	Congenital cataract, Congenital total cataract		18596884
Cortical cataract	Cortical pulverulent cataract	rs757859957, rs748560372, rs886045505, rs886045507, rs2547319
Respiratory distress syndrome	Respiratory Distress Syndrome, Adult		25070658