Property Summary

NCBI Gene PubMed Count 26
PubMed Score 142.56
PubTator Score 7.78

Knowledge Summary

Patent

No data available

Synonym

Accession P07316 Q17RB5 Q53ST2
Symbols CRYG2
CTRCT39

Gene

PDB

1LEU   1MYV   1MYX   1MYY   1MZ1   1MZ2   1MZ3   2JDF   2JDG  

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG Inparanoid

Gene RIF (9)

PMID Text
26552302 Allelic variant frequency of the gamma-crystallin promoter (g(-47) ->a) affects the level of its expression in platelets from cataract patients.
23288985 Complex heterogeneous mutations in the gammaB crystallin gene have been described resulting in autosomal dominant congenital cataracts with three distinct phenotypes (lamellar, anterior polar, and complete cataracts) in the same family.
21941057 -47C allele of rs2289917 in CRYGB showed the strongest association with cataract.
20800603 Observational study of gene-disease association. (HuGE Navigator)
20621668 The alphaB-crystallin oligomers formed long-lived stable complexes with their gammaD-crystallin substrates.
19384013 This study establishes baseline frequency data for four SNPs in CRYGA and CRYGB genes for future case control studies on the role of these SNPs in the genetic basis of cataract.
19384013 Observational study of genotype prevalence. (HuGE Navigator)
14517968 Possible sites for posttranslational modifications in gamma B crystallin.
12876325 In gammaD-crystallin, methylation is exclusively at Cys 110, whereas in gammaC- and gammaB-crystallins, the principal methylation site is Cys 22 with minor methylation at Cys 79

AA Sequence

MGKITFYEDRAFQGRSYECTTDCPNLQPYFSRCNSIRVESGCWMIYERPNYQGHQYFLRRGEYPDYQQWM      1 - 70
GLSDSIRSCCLIPPHSGAYRMKIYDRDELRGQMSELTDDCISVQDRFHLTEIHSLNVLEGSWILYEMPNY     71 - 140
RGRQYLLRPGEYRRFLDWGAPNAKVGSLRRVMDLY                                       141 - 175
//

Text Mined References (27)

PMID Year Title
26552302 2015 [ALLELIC VARIANT FREQUENCY OF PROMOTER (G(-47)-->A) ?-CRYSTALLIN GENE AFFECTS THE LEVEL OF ITS EXPRESSION IN PLATELETS].
23288985 2012 Novel crystallin gamma B mutations in a Kuwaiti family with autosomal dominant congenital cataracts reveal genetic and clinical heterogeneity.
21941057 Polymorphisms of the gamma crystallin A and B genes among Indian patients with pediatric cataract.
20800603 2010 Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
20621668 2010 Partially folded aggregation intermediates of human gammaD-, gammaC-, and gammaS-crystallin are recognized and bound by human alphaB-crystallin chaperone.
19384013 Analysis of single nucleotide polymorphisms of CRYGA and CRYGB genes in control population of western Indian origin.
17628592 2007 Affilin-novel binding molecules based on human gamma-B-crystallin, an all beta-sheet protein.
16368877 2006 Genomic annotation of 15,809 ESTs identified from pooled early gestation human eyes.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14517968 2003 Prediction of possible sites for posttranslational modifications in human gamma crystallins: effect of glycation on the structure of human gamma-B-crystallin as analyzed by molecular modeling.
12876325 2003 Methylation and carbamylation of human gamma-crystallins.
12676897 2003 Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts.
12507494 2003 Homology models of human gamma-crystallins: structural study of the extensive charge network in gamma-crystallins.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12060738 2002 Shotgun identification of protein modifications from protein complexes and lens tissue.
12011157 2002 Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts.
10627816 1999 Structure of the crystallins.
10521291 1999 The gamma-crystallins and human cataracts: a puzzle made clearer.
9426193 1997 The crystallins: genes, proteins and diseases.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
4065573 1985 Two human gamma-crystallin genes are linked and riddled with Alu-repeats.
3670288 1987 Gamma-crystallins of the human eye lens: expression analysis of five members of the gene family.
3011643 1986 Assignment of the human gamma-crystallin gene cluster (CRYG) to the long arm of chromosome 2, region q33-36.
2777080 1989 Nucleotide sequence of the rat gamma-crystallin gene region and comparison with an orthologous human region.
2258929 1990 Human gamma-crystallin genes. A gene family on its way to extinction.
1923840 1991 Trinucleotide repeat polymorphism at the CRYG1 locus.