Property Summary

NCBI Gene PubMed Count 14
Grant Count 18
R01 Count 17
Funding $4,148,116.17
PubMed Score 53.25
PubTator Score 54.28

Knowledge Summary

Patent

No data available

Gene RIF (5)

PMID Text
22103961 we report the absence of mutations in all studied genes in four families with phenotypes associating cataract, mental retardation and microcephaly.
21386927 The genetic mutation in GJA3, GJA8, and LIM2 may slightly contribute to the development of age-related cataracts.
18596884 This study shows the involvement of LIM2 in human congenital cataract.
15968979 Since the LIM2 gene promoter does not contain a classic TATA box, the Hsu element may serve as the site for binding the RNA polymerase complex.
11917274 A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family

AA Sequence

MYSFMGGGLFCAWVGTILLVVAMATDHWMQYRLSGSFAHQGLWRYCLGNKCYLQTDSIAYWNATRAFMIL      1 - 70
SALCAISGIIMGIMAFAHQPTFSRISRPFSAGIMFFSSTLFVVLALAIYTGVTVSFLGRRFGDWRFSWSY     71 - 140
ILGWVAVLMTFFAGIFYMCAYRVHECRRLSTPR                                         141 - 173
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Text Mined References (16)

PMID Year Title
22103961 2011 Absence of mutations in four genes encoding for congenital cataract and expressed in the human brain in Tunisian families with cataract and mental retardation.
21386927 2011 Genetic variations in GJA3, GJA8, LIM2, and age-related cataract in the Chinese population: a mutation screening study.
18596884 2008 A missense mutation in LIM2 causes autosomal recessive congenital cataract.
15968979 2004 Identification of a lens-specific cis-acting element within the basal promoter of the human lens intrinsic membrane protein MP19 gene (LIM2).
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12107413 2002 Expressed sequence tag analysis of adult human lens for the NEIBank Project: over 2000 non-redundant transcripts, novel genes and splice variants.
12107412 2002 Expressed sequence tag analysis of adult human iris for the NEIBank Project: steroid-response factors and similarities with retinal pigment epithelium.
11917274 2002 A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family.
11532191 2001 MP20, the second most abundant lens membrane protein and member of the tetraspanin superfamily, joins the list of ligands of galectin-3.
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