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Aliases for CRYBA4 Gene

Aliases for CRYBA4 Gene

  • Crystallin, Beta A4 2 3
  • Beta-A4 Crystallin 3 4
  • CTRCT23 3 6
  • Beta Crystallin A4 Chain Transcript PS 3
  • Crystallin, Beta Polypeptide A4 3
  • Eye Lens Structural Protein 3
  • Beta-Crystallin A4 3
  • MCOPCT4 3

External Ids for CRYBA4 Gene

Summaries for CRYBA4 Gene

Entrez Gene Summary for CRYBA4 Gene

  • 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]

GeneCards Summary for CRYBA4 Gene

CRYBA4 (Crystallin, Beta A4) is a Protein Coding gene. Diseases associated with CRYBA4 include cataract 23 and non-syndromic congenital cataract. GO annotations related to this gene include structural constituent of eye lens. An important paralog of this gene is CRYGC.

UniProtKB/Swiss-Prot for CRYBA4 Gene

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

Gene Wiki entry for CRYBA4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CRYBA4 Gene

Genomics for CRYBA4 Gene

Genomic Location for CRYBA4 Gene

Start:
26,608,015 bp from pter
End:
26,630,672 bp from pter
Size:
22,658 bases
Orientation:
Plus strand

Genomic View for CRYBA4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CRYBA4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CRYBA4 Gene

Regulatory Elements for CRYBA4 Gene

Proteins for CRYBA4 Gene

  • Protein details for CRYBA4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P53673-CRBA4_HUMAN
    Recommended name:
    Beta-crystallin A4
    Protein Accession:
    P53673
    Secondary Accessions:
    • Q4VB22
    • Q6ICE4

    Protein attributes for CRYBA4 Gene

    Size:
    196 amino acids
    Molecular mass:
    22374 Da
    Quaternary structure:
    • Homo/heterodimer, or complexes of higher-order. The structure of beta-crystallin oligomers seems to be stabilized through interactions between the N-terminal arms (By similarity).
    SequenceCaution:
    • Sequence=CAG30310.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CRYBA4 Gene

neXtProt entry for CRYBA4 Gene

Proteomics data for CRYBA4 Gene at MOPED

Post-translational modifications for CRYBA4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CRYBA4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CRYBA4 Gene

Domains for CRYBA4 Gene

Protein Domains for CRYBA4 Gene

UniProtKB/Swiss-Prot:

CRBA4_HUMAN
Domain:
  • Has a two-domain beta-structure, folded into four very similar Greek key motifs:
    • P53673
  • Contains 4 beta/gamma crystallin Greek key domains.:
    • P53673
Family:
  • Belongs to the beta/gamma-crystallin family.:
    • P53673
genes like me logo Genes that share domains with CRYBA4: view

No data available for Gene Families for CRYBA4 Gene

Function for CRYBA4 Gene

Molecular function for CRYBA4 Gene

GENATLAS Biochemistry: crystallin,beta polypeptide A4
UniProtKB/Swiss-Prot Function: Crystallins are the dominant structural components of the vertebrate eye lens

Gene Ontology (GO) - Molecular Function for CRYBA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005212 structural constituent of eye lens IEA --
GO:0005515 protein binding IPI 25416956
genes like me logo Genes that share ontologies with CRYBA4: view

Phenotypes for CRYBA4 Gene

GenomeRNAi human phenotypes for CRYBA4:
genes like me logo Genes that share phenotypes with CRYBA4: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for CRYBA4 Gene

Localization for CRYBA4 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CRYBA4 Gene COMPARTMENTS Subcellular localization image for CRYBA4 gene
Compartment Confidence
cytosol 2
extracellular 2
nucleus 2

Gene Ontology (GO) - Cellular Components for CRYBA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with CRYBA4: view

Pathways for CRYBA4 Gene

SuperPathways for CRYBA4 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CRYBA4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007601 visual perception NAS 8999933
GO:0043010 camera-type eye development IMP 16960806
genes like me logo Genes that share ontologies with CRYBA4: view

No data available for Pathways by source for CRYBA4 Gene

Transcripts for CRYBA4 Gene

mRNA/cDNA for CRYBA4 Gene

Unigene Clusters for CRYBA4 Gene

Crystallin, beta A4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CRYBA4 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5a · 5b
SP1:
SP2: -

Relevant External Links for CRYBA4 Gene

GeneLoc Exon Structure for
CRYBA4
ECgene alternative splicing isoforms for
CRYBA4

Expression for CRYBA4 Gene

mRNA expression in normal human tissues for CRYBA4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CRYBA4 Gene

This gene is overexpressed in Testis (12.6) and Liver (5.1).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for CRYBA4 Gene

SOURCE GeneReport for Unigene cluster for CRYBA4 Gene Hs.57690

genes like me logo Genes that share expressions with CRYBA4: view

Orthologs for CRYBA4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CRYBA4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CRYBA4 36
  • 98.98 (n)
  • 99.49 (a)
CRYBA4 37
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CRYBA4 36
  • 89.46 (n)
  • 94.39 (a)
CRYBA4 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CRYBA4 36
  • 89.46 (n)
  • 94.9 (a)
CRYBA4 37
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cryba4 36
  • 85.54 (n)
  • 91.84 (a)
Cryba4 16
Cryba4 37
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia CRYBA4 37
  • 86 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cryba4 36
  • 86.56 (n)
  • 91.84 (a)
chicken
(Gallus gallus)
Aves CRYBA4 36
  • 71.78 (n)
  • 68.78 (a)
CRYBA4 37
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia cryba4 36
  • 72.28 (n)
  • 75 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.14181 36
zebrafish
(Danio rerio)
Actinopterygii cryba4 36
  • 71.43 (n)
  • 68.37 (a)
cryba4 37
  • 61 (a)
OneToOne
Dr.15802 36
Species with no ortholog for CRYBA4:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CRYBA4 Gene

ENSEMBL:
Gene Tree for CRYBA4 (if available)
TreeFam:
Gene Tree for CRYBA4 (if available)

Paralogs for CRYBA4 Gene

Paralogs for CRYBA4 Gene

Selected SIMAP similar genes for CRYBA4 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CRYBA4: view

Variants for CRYBA4 Gene

Sequence variations from dbSNP and Humsavar for CRYBA4 Gene

SNP ID Clin Chr 22 pos Sequence Context AA Info Type MAF
rs4276 -- 26,625,461(+) TGCAC(A/G)CTCTA intron-variant
rs4277 - 26,625,573(+) CAACA(C/T)GGCCT reference, missense
rs1573709 -- 26,630,840(+) gactt(C/T)tgggt downstream-variant-500B
rs2071860 -- 26,623,164(+) TGGGG(C/T)GAGCC intron-variant
rs2071861 -- 26,625,225(+) GGATC(A/G)TCCTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CRYBA4 Gene

Variant ID Type Subtype PubMed ID
nsv7350 OTHER Inversion 18451855
dgv1397e1 CNV Complex 17122850
nsv9894 CNV Gain 18304495

Relevant External Links for CRYBA4 Gene

HapMap Linkage Disequilibrium report
CRYBA4
Human Gene Mutation Database (HGMD)
CRYBA4
Locus Specific Mutation Databases (LSDB)
CRYBA4

Disorders for CRYBA4 Gene

(1) OMIM Diseases for CRYBA4 Gene (123631)

UniProtKB/Swiss-Prot

CRBA4_HUMAN
  • Cataract 23 (CTRCT23) [MIM:610425]: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT23 is a zonular cataract. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Zonular cataracts generally do not involve the embryonic nucleus, though sometimes they involve the fetal nucleus. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes. {ECO:0000269 PubMed:16960806}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) University of Copenhagen DISEASES for CRYBA4 Gene

(1) Novoseek inferred disease relationships for CRYBA4 Gene

Disease -log(P) Hits PubMed IDs
cataract 67 2

Relevant External Links for CRYBA4

Genetic Association Database (GAD)
CRYBA4
Human Genome Epidemiology (HuGE) Navigator
CRYBA4
genes like me logo Genes that share disorders with CRYBA4: view

Publications for CRYBA4 Gene

  1. Regional fine mapping of the beta crystallin genes on chromosome 22 excludes these genes as physically linked markers for neurofibromatosis type 2. (PMID: 7504514) Bijlsma E.K. … Hulsebos T.J.M. (Genes Chromosomes Cancer 1993) 3 4 23
  2. Sequence analysis of betaA3, betaB3, and betaA4 crystallins completes the identification of the major proteins in young human lens. (PMID: 8999933) Lampi K.J. … David L.L. (J. Biol. Chem. 1997) 2 3 4
  3. The DNA sequence of human chromosome 22. (PMID: 10591208) Dunham I. … Wright H. (Nature 1999) 3 4
  4. [Feral domestic pigeons as a hygienic problem in big cities--the situation in Magdeburg]. (PMID: 960806) Schuschke G. … Rosenkranz M. (Z Gesamte Hyg 1976) 2 3
  5. Localization of the beta A4-crystallin gene (CRYBA4) on human chromosome 22 in the region q11.2-->q13.1. (PMID: 1424806) van Rens G.L. … Bloemendal H. (Cytogenet. Cell Genet. 1992) 3 23

Products for CRYBA4 Gene

Sources for CRYBA4 Gene

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