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Tbio Beta-crystallin A4

Crystallins are the dominant structural components of the vertebrate eye lens.

Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Beta-crystallins, the most heterogeneous, differ by the presence of the C-terminal extension (present in the basic group, none in the acidic group). Beta-crystallins form aggregates of different sizes and are able to self-associate to form dimers or to form heterodimers with other beta-crystallins. This gene, a beta acidic group member, is part of a gene cluster with beta-B1, beta-B2, and beta-B3. [provided by RefSeq, Jul 2008]

 Comments

Property Summary

NCBI Gene PubMed Count 19
PubMed Score 13.81
PubTator Score 15.86

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (8)

Disease Z-score Confidence
Microphthalmia 78 4.095 2.0
Coloboma 51 3.363 1.7
Myopia 99 3.33 1.7
Cataract 104 3.204 1.6
CATARACT 23 1
CATARACT, MARNER TYPE 6
Cataract microcornea syndrome 8
Cataract, Lamellar 2 1

Expression

Synonym

Accession P53673 Q4VB22 Q6ICE4
Symbols CYRBA4
CTRCT23
MCOPCT4

Gene

CRYBA4

PDB

3LWK  

 GO Function (1)

 GO Process (2)

 Compartment GO Term (1)

 OMIM Term (1)

Pathway (6)

 UniProt Keyword (10)

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
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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.
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