Property Summary

NCBI Gene PubMed Count 94
Grant Count 69
R01 Count 39
Funding $12,704,632.58
PubMed Score 718.15
PubTator Score 269.30

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (3)

Disease log2 FC p
mucosa-associated lymphoid tissue lympho... -1.085 0.027
acute myeloid leukemia -2.400 0.016
pituitary cancer 1.200 0.015

Synonym

Accession P07320 Q17RF7 Q53R51 Q99681
Symbols CCP
PCC
CACA
CCA3
CRYG4
CTRCT4
cry-g-D

Gene

PDB

1H4A   1HK0   1LD0   2G98   2KFB   2KLJ   4GR7   4JGF  

Gene RIF (70)

PMID Text
27455011 The nonsense mutation c.471G>A of the CRYGD gene probably underlies the congenital cataract in the pedigree
26703476 Single-molecule Force Spectroscopy Predicts a Misfolded, Domain-swapped Conformation in human gammaD-Crystallin Protein.
26147294 We have identified a novel mutation, c.451_452insGACT, in CRYGD, which is associated with nuclear cataract. This is the first insertion mutation of CRYGD found to cause autosomal dominant congenital cataract.
25787081 oxidation-mimicking W42Q mutant of gammad-crystallin formed non-native polymers starting from a native-like state under physiological conditions
25613833 Created are three double mutants of human gamma D-crystallin for which the phase diagrams for singly mutated proteins can be used to predict the behavior of the double mutants.
25403472 We have used trio-based exome sequencing to uncover a recurrent missense mutation in CRYGD and two novel missense mutations in GJA8 associated with autosomal dominant cataract in three nuclear families.
25393041 These results indicated that the single lysine residue at the second position (K2) is acetylated at an early age and that the amount of K2-acetylated gamma D-crystallin increased with age.
25205362 Shared epitopes and smoking were associated with the production of anti-CCP antibodies and rheumatoid factors of IgM and IgA isotypes, which again were associated with erosive disease at presentation only in smokers.
24465161 This study identified a novel congenital nuclear and posterior polar cataract phenotype caused by the recurrent mutation p. R140X in CRYGD.
24415662 Results show that thermal denaturation of gammaD-crystallin results in sheet-like aggregates that contain cross-linked oligomers of the protein.
More...

AA Sequence

MGKITLYEDRGFQGRHYECSSDHPNLQPYLSRCNSARVDSGCWMLYEQPNYSGLQYFLRRGDYADHQQWM      1 - 70
GLSDSVRSCRLIPHSGSHRIRLYEREDYRGQMIEFTEDCSCLQDRFRFNEIHSLNVLEGSWVLYELSNYR     71 - 140
GRQYLLMPGDYRRYQDWGATNARVGSLRRVIDFS                                        141 - 174
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Text Mined References (96)

PMID Year Title
27455011 2016 [A novel pathogenic mutation of CRYGD gene in a congenital cataract family].
26703476 2016 Single-molecule Force Spectroscopy Predicts a Misfolded, Domain-swapped Conformation in human ?D-Crystallin Protein.
26147294 2015 A Novel Insertion Variant of CRYGD Is Associated with Congenital Nuclear Cataract in a Chinese Family.
25787081 2015 Wild-type human ?D-crystallin promotes aggregation of its oxidation-mimicking, misfolding-prone W42Q mutant.
25613833 2015 The self assembly of proteins; probing patchy protein interactions.
25403472 2014 Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract.
25393041 2014 Acetylation of Gly1 and Lys2 promotes aggregation of human ?D-crystallin.
25205362 2015 Interactions between smoking, increased serum levels of anti-CCP antibodies, rheumatoid factors, and erosive joint disease in patients with early, untreated rheumatoid arthritis.
24465161 2014 A nonsense mutation of ?D-crystallin associated with congenital nuclear and posterior polar cataract in a Chinese family.
24415662 2014 An alternative structural isoform in amyloid-like aggregates formed from thermally denatured human ?D-crystallin.
More...