Property Summary

NCBI Gene PubMed Count 19
PubMed Score 13.81
PubTator Score 15.86

Knowledge Summary

Patent

No data available

TINX Plot

Expression

Gene RIF (4)

PMID Text
22792142 rs2009066 located in the crystallin beta A4 (CRYBA4) gene was identified to be the most significantly associated with high myopia.
20577656 Novel missense mutation in CRYBA4 expands mutation spectrum of CRYBA4 and provides useful information to study of molecular pathogenesis of cataract and microcornea.
20057906 Observational study of gene-disease association. (HuGE Navigator)
16960806 first report linking mutations in CRYBA4 to cataractogenesis and microphthalmia

AA Sequence

MTLQCTKSAGPWKMVVWDEDGFQGRRHEFTAECPSVLELGFETVRSLKVLSGAWVGFEHAGFQGQQYILE      1 - 70
RGEYPSWDAWGGNTAYPAERLTSFRPAACANHRDSRLTIFEQENFLGKKGELSDDYPSLQAMGWEGNEVG     71 - 140
SFHVHSGAWVCSQFPGYRGFQYVLECDHHSGDYKHFREWGSHAPTFQVQSIRRIQQ                  141 - 196
//

Text Mined References (18)

PMID Year Title
25416956 2014 A proteome-scale map of the human interactome network.
22792142 2012 Association of high myopia with crystallin beta A4 (CRYBA4) gene polymorphisms in the linkage-identified MYP6 locus.
20889312 2010 A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
20577656 2010 A missense mutation in CRYBA4 associated with congenital cataract and microcornea.
20057906 2009 Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma.
16960806 2006 CRYBA4, a novel human cataract gene, is also involved in microphthalmia.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15461802 2004 A genome annotation-driven approach to cloning the human ORFeome.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12360425 2002 A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q.
12060738 2002 Shotgun identification of protein modifications from protein complexes and lens tissue.
10591208 1999 The DNA sequence of human chromosome 22.
8999933 1997 Sequence analysis of betaA3, betaB3, and betaA4 crystallins completes the identification of the major proteins in young human lens.
8889548 1996 Normalization and subtraction: two approaches to facilitate gene discovery.
8420967 1993 Sequence analysis of lens beta-crystallins suggests involvement of calpain in cataract formation.
7504514 1993 Regional fine mapping of the beta crystallin genes on chromosome 22 excludes these genes as physically linked markers for neurofibromatosis type 2.
1424806 1992 Localization of the beta A4-crystallin gene (CRYBA4) on human chromosome 22 in the region q11.2-->q13.1.
960806 1976 [Feral domestic pigeons as a hygienic problem in big cities--the situation in Magdeburg].