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Aliases for CRYBA4 Gene

Aliases for CRYBA4 Gene

  • Crystallin Beta A4 2 3 5
  • Beta-A4 Crystallin 3 4
  • Beta Crystallin A4 Chain Transcript PS 3
  • Crystallin, Beta Polypeptide A4 3
  • Beta Crystallin Alpha 4 Chain 3
  • Eye Lens Structural Protein 3
  • Crystallin, Beta A4 2
  • Beta-Crystallin A4 3
  • CTRCT23 3
  • MCOPCT4 3
  • CYRBA4 3

External Ids for CRYBA4 Gene

Previous GeneCards Identifiers for CRYBA4 Gene

  • GC22P023714
  • GC22P025342
  • GC22P027017
  • GC22P009965

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, Multiple Types and Cataract Microcornea Syndrome. Gene Ontology (GO) annotations related to this gene include structural constituent of eye lens. An important paralog of this gene is CRYBA1.

UniProtKB/Swiss-Prot for CRYBA4 Gene

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

Gene Wiki entry for CRYBA4 Gene

Additional gene information for CRYBA4 Gene

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

Genomics for CRYBA4 Gene

GeneHancer (GH) Regulatory Elements for CRYBA4 Gene

Promoters and enhancers for CRYBA4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH22I026606 Enhancer 0.5 ENCODE 550.8 -1.1 -1135 0.2 FOSL1 JUND RFX1 JUN FOS ZNF592 CRYBA4 HMGB1P10 MIR548J TPST2 CRYBB1
GH22I026621 Promoter 0.5 EPDnew 550.4 +14.0 13957 0.1 CRYBA4 CRYBB1 ISCA2P1
GH22I026584 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 12.2 -20.1 -20128 6.2 ATF1 ARNT ARID4B SIN3A YY1 ZNF121 GLIS2 ZNF143 KLF7 FOS TPST2 CRYBA4 CRYBB1 HMGB1P10 MIR548J TFIP11
GH22I026640 Promoter/Enhancer 2.2 FANTOM5 Ensembl ENCODE dbSUPER 13 +35.4 35417 5.2 HDGF FOXA2 PKNOX1 ARNT ARID4B SIN3A YBX1 ZNF2 YY1 POLR2B ISCA2P1 TFIP11 MIATNB RPL15P22 TPST2 LOC100507599 CRYBB1 CRYBA4 HMGB1P10 MIR548J
GH22I026668 Promoter/Enhancer 1.9 Ensembl ENCODE dbSUPER 11.2 +64.6 64597 7.3 HDGF PKNOX1 SMAD1 SIN3A YY1 E2F8 ZNF143 KLF13 SP3 JUNB ENSG00000206028 ENSG00000275942 ENSG00000277941 MIATNB ENSG00000276991 MIAT TFIP11 SRRD HPS4 CRYBB1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CRYBA4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CRYBA4 gene promoter:

Genomic Locations for CRYBA4 Gene

Genomic Locations for CRYBA4 Gene
chr22:26,607,987-26,630,672
(GRCh38/hg38)
Size:
22,686 bases
Orientation:
Plus strand
chr22:27,017,928-27,026,636
(GRCh37/hg19)

Genomic View for CRYBA4 Gene

Genes around CRYBA4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CRYBA4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CRYBA4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for CRYBA4 Gene

No Post-translational modifications

Other Protein References for CRYBA4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CRYBA4 Gene

Domains & Families for CRYBA4 Gene

Gene Families for CRYBA4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for CRYBA4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P53673

UniProtKB/Swiss-Prot:

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

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.

Phenotypes From GWAS Catalog for CRYBA4 Gene

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

Human Phenotype Ontology for CRYBA4 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

Clone Products

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

Localization for CRYBA4 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CRYBA4 gene
Compartment Confidence
extracellular 2
nucleus 2
cytosol 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

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for CRYBA4 Gene

Pathways & Interactions 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 and SIGNOR curated interactions for CRYBA4 Gene

Drugs & Compounds for CRYBA4 Gene

No Compound Related Data Available

Transcripts for CRYBA4 Gene

mRNA/cDNA for CRYBA4 Gene

Unigene Clusters for CRYBA4 Gene

Crystallin, beta A4:
Representative Sequences:

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x12.6) and Liver (x5.1).

Protein differential expression in normal tissues from HIPED for CRYBA4 Gene

This gene is overexpressed in Vitreous humor (68.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CRYBA4 Gene



Protein tissue co-expression partners for CRYBA4 Gene

NURSA nuclear receptor signaling pathways regulating expression of CRYBA4 Gene:

CRYBA4

SOURCE GeneReport for Unigene cluster for CRYBA4 Gene:

Hs.57690

Evidence on tissue expression from TISSUES for CRYBA4 Gene

  • Eye(4.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CRYBA4 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with CRYBA4: view

No data available for mRNA Expression by UniProt/SwissProt for CRYBA4 Gene

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 33 34
  • 98.98 (n)
cow
(Bos Taurus)
Mammalia CRYBA4 33 34
  • 89.46 (n)
dog
(Canis familiaris)
Mammalia CRYBA4 33 34
  • 89.46 (n)
rat
(Rattus norvegicus)
Mammalia Cryba4 33
  • 86.56 (n)
oppossum
(Monodelphis domestica)
Mammalia CRYBA4 34
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cryba4 33 16 34
  • 85.54 (n)
chicken
(Gallus gallus)
Aves CRYBA4 33 34
  • 71.78 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia cryba4 33
  • 72.28 (n)
zebrafish
(Danio rerio)
Actinopterygii cryba4 33 34
  • 71.43 (n)
Dr.15802 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.14181 33
Species where no ortholog for CRYBA4 was found in the sources mined by GeneCards:
  • 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

(15) 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 Variation AA Info Type
rs1064793935 pathogenic, Cataract, congenital nuclear, autosomal recessive 3, not provided 26,616,149(+) CCC/CC genic_upstream_transcript_variant, intron_variant
rs142090709 benign, Congenital cataract 26,623,233(+) G/C splice_acceptor_variant
rs143137736 benign, Cataract 23, multiple types 26,628,311(+) A/T coding_sequence_variant, synonymous_variant
rs147206089 benign, Cataract, congenital nuclear, autosomal recessive 3 26,607,993(+) G/A/C 5_prime_UTR_variant, genic_upstream_transcript_variant
rs148083686 uncertain-significance, Congenital nuclear cataract 26,607,927(+) G/A/C upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
nsv9894 CNV gain 18304495
nsv7350 OTHER inversion 18451855
esv2758831 CNV loss 17122850

Variation tolerance for CRYBA4 Gene

Residual Variation Intolerance Score: 75.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.68; 46.02% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CRYBA4 Gene

Human Gene Mutation Database (HGMD)
CRYBA4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CRYBA4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CRYBA4 Gene

Disorders for CRYBA4 Gene

MalaCards: The human disease database

(6) MalaCards diseases for CRYBA4 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cataract 23, multiple types
  • ctrct23
cataract microcornea syndrome
  • microcornea cataract syndrome
cataract 16, multiple types
  • ctrct16
cataract
  • cataracts
microphthalmia, isolated 1
  • mcop1
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CRBA4_HUMAN
  • Cataract 23, multiple types (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, ECO:0000269 PubMed:20577656}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CRYBA4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CRYBA4: view

No data available for Genatlas for CRYBA4 Gene

Publications for CRYBA4 Gene

  1. Sequence analysis of betaA3, betaB3, and betaA4 crystallins completes the identification of the major proteins in young human lens. (PMID: 8999933) Lampi KJ … David LL (The Journal of biological chemistry 1997) 2 3 4 58
  2. 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 EK … Hulsebos TJ (Genes, chromosomes & cancer 1993) 3 4 22 58
  3. A missense mutation in CRYBA4 associated with congenital cataract and microcornea. (PMID: 20577656) Zhou G … Qi Y (Molecular vision 2010) 3 4 58
  4. Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma. (PMID: 20057906) Zhang X … Zhang Q (Molecular vision 2009) 3 44 58
  5. CRYBA4, a novel human cataract gene, is also involved in microphthalmia. (PMID: 16960806) Billingsley G … Héon E (American journal of human genetics 2006) 3 4 58

Products for CRYBA4 Gene

Sources for CRYBA4 Gene

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