• Gene id: 3982

Gene Summary

• Gene Symbol: LIM2   Gene   UCSC   Ensembl
• Aliases: CTRCT19, MP17, MP19
• Gene name: lens intrinsic membrane protein 2
• Alternate names: lens fiber membrane intrinsic protein, MP18, MP20, lens intrinsic membrane protein 2, 19kDa,
• Gene location: 19q13.41 (51387973: 51379908)     Exons: 5     NC_000019.10
• Gene summary(Entrez): 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
• OMIM: 616173

SNPs

rs397515392

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000003.12   g.180661860C>G
NC_000003.11   g.180379648C>G
NG_029581.1   g.22636G>C|SEQ=[C/G]|GENE=CCDC39

Protein Summary

• Protein general information: P55344  
  • Name: Lens fiber membrane intrinsic protein (MP18) (MP19) (MP20)
  • Length: 173  
  • Mass: 19674
  • Tissue specificity: Eye lens specific. {ECO
• Sequence:

  MYSFMGGGLFCAWVGTILLVVAMATDHWMQYRLSGSFAHQGLWRYCLGNKCYLQTDSIAYWNATRAFMILSALCA
  ISGIIMGIMAFAHQPTFSRISRPFSAGIMFFSSTLFVVLALAIYTGVTVSFLGRRFGDWRFSWSYILGWVAVLMT
  FFAGIFYMCAYRVHECRRLSTPR

• Structural information:
  • Interpro: IPR003935  IPR004031  IPR004032  
  • Prosite: PS01222
• Other Databases: GeneCards:  LIM2  Malacards:  LIM2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005886	plasma membrane	IBA	cellular component
GO:0005212	structural constituent of eye lens	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005212	structural constituent of eye lens	IEA	molecular function
GO:0016020	membrane	IEA	cellular component
GO:0043010	camera-type eye development	IEA	biological process
GO:0002088	lens development in camera-type eye	IEA	biological process
GO:0031982	vesicle	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0030054	cell junction	NAS	cellular component
GO:0007043	cell-cell junction assembly	NAS	biological process

Diseases

Associated diseases	References
Cataract	KEGG:H01202
Cataract	KEGG:H01202
Cataract	PMID:11917274
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881