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Aliases for CRYBA2 Gene

Aliases for CRYBA2 Gene

  • Crystallin Beta A2 2 3 5
  • Eye Lens Structural Protein 3
  • Crystallin, Beta A2 2
  • Beta-Crystallin A2 3
  • Beta-A2 Crystallin 4
  • CTRCT42 3

External Ids for CRYBA2 Gene

Previous GeneCards Identifiers for CRYBA2 Gene

  • GC02M217870
  • GC02M218576
  • GC02M219818
  • GC02M220057
  • GC02M219680
  • GC02M219563
  • GC02M219854
  • GC02M211708

Summaries for CRYBA2 Gene

Entrez Gene Summary for CRYBA2 Gene

  • Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of the vertebrate eye, which function to maintain 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 defined 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 but absent in the acidic group). Beta-crystallins form aggregates of different sizes and are able to form homodimers through self-association or heterodimers with other beta-crystallins. This gene is a beta acidic group member. Three alternatively spliced transcript variants encoding identical proteins have been reported. [provided by RefSeq, Jul 2008]

GeneCards Summary for CRYBA2 Gene

CRYBA2 (Crystallin Beta A2) is a Protein Coding gene. Diseases associated with CRYBA2 include Cataract 42 and Cataract 24. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and structural constituent of eye lens. An important paralog of this gene is CRYBA1.

UniProtKB/Swiss-Prot for CRYBA2 Gene

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

Additional gene information for CRYBA2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CRYBA2 Gene

Genomics for CRYBA2 Gene

GeneHancer (GH) Regulatory Elements for CRYBA2 Gene

Promoters and enhancers for CRYBA2 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
GH02J218992 Promoter/Enhancer 1.1 EPDnew Ensembl 650.7 -0.2 -150 1.5 CTCF RNF2 L3MBTL2 SUZ12 ZIC2 XRCC5 ZNF316 GLIS1 CTBP2 NFE2 CRYBA2 WNT6 MIR375
GH02J218908 Enhancer 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10.8 +84.0 83958 2.4 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZBTB7B CNOT9 STK36 ZNF142 USP37 AAMP OBSL1 NHEJ1 ENSG00000235024 CDK5R2 ENSG00000269068
GH02J219121 Enhancer 1.3 Ensembl ENCODE dbSUPER 10.7 -131.5 -131513 7.2 CLOCK ATF1 FOXA2 ARID4B YBX1 TCF12 FOS ATF7 RUNX3 NFKBIZ SLC23A3 NHEJ1 IHH MIR375 LOC100129175 FEV CRYBA2 LINC00608 RETREG2 CNPPD1
GH02J218886 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 10.5 +107.2 107156 0.5 HDGF SMAD1 IRF4 ZNF143 ATF7 RCOR1 ETV6 BCLAF1 IKZF2 RUNX3 WNT6 RNU6-642P PRKAG3 LINC00608 FEV CRYBA2 WNT10A CNOT9 LOC105373882
GH02J219110 Enhancer 1.1 ENCODE dbSUPER 10.8 -118.7 -118726 3 FOXA2 MLX ARID4B ZNF48 YY1 SLC30A9 NFKBIZ RXRA SP5 ZHX2 IHH LOC100129175 MIR375 CRYBA2 FEV LINC00608 PTPRN NHEJ1 ENSG00000235024 CDK5R2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CRYBA2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CRYBA2 gene promoter:
  • NRSF form 1
  • NRSF form 2

Genomic Locations for CRYBA2 Gene

Genomic Locations for CRYBA2 Gene
chr2:218,990,189-218,993,556
(GRCh38/hg38)
Size:
3,368 bases
Orientation:
Minus strand
chr2:219,854,911-219,858,143
(GRCh37/hg19)
Size:
3,233 bases
Orientation:
Minus strand

Genomic View for CRYBA2 Gene

Genes around CRYBA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CRYBA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CRYBA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CRYBA2 Gene

Proteins for CRYBA2 Gene

  • Protein details for CRYBA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P53672-CRBA2_HUMAN
    Recommended name:
    Beta-crystallin A2
    Protein Accession:
    P53672
    Secondary Accessions:
    • Q4ZFX0
    • Q9Y562

    Protein attributes for CRYBA2 Gene

    Size:
    197 amino acids
    Molecular mass:
    22096 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).

neXtProt entry for CRYBA2 Gene

Post-translational modifications for CRYBA2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CRYBA2 Gene

No data available for DME Specific Peptides for CRYBA2 Gene

Domains & Families for CRYBA2 Gene

Gene Families for CRYBA2 Gene

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

Protein Domains for CRYBA2 Gene

Suggested Antigen Peptide Sequences for CRYBA2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P53672

UniProtKB/Swiss-Prot:

CRBA2_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 CRYBA2: view

Function for CRYBA2 Gene

Molecular function for CRYBA2 Gene

UniProtKB/Swiss-Prot Function:
Crystallins are the dominant structural components of the vertebrate eye lens.
GENATLAS Biochemistry:
crystallin,beta polypeptide A2

Phenotypes From GWAS Catalog for CRYBA2 Gene

Gene Ontology (GO) - Molecular Function for CRYBA2 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 19060904
GO:0042803 protein homodimerization activity IEA --
genes like me logo Genes that share ontologies with CRYBA2: view
genes like me logo Genes that share phenotypes with CRYBA2: view

Human Phenotype Ontology for CRYBA2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for CRYBA2 Gene

miRTarBase miRNAs that target CRYBA2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for CRYBA2 Gene

Localization for CRYBA2 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 CRYBA2 gene
Compartment Confidence
nucleus 3
extracellular 2
cytosol 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for CRYBA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with CRYBA2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from the Human Protein Atlas (HPA) for CRYBA2 Gene

Pathways & Interactions for CRYBA2 Gene

SuperPathways for CRYBA2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for CRYBA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002088 lens development in camera-type eye IEA --
GO:0008150 biological_process ND --
genes like me logo Genes that share ontologies with CRYBA2: view

No data available for Pathways by source and SIGNOR curated interactions for CRYBA2 Gene

Drugs & Compounds for CRYBA2 Gene

No Compound Related Data Available

Transcripts for CRYBA2 Gene

mRNA/cDNA for CRYBA2 Gene

Unigene Clusters for CRYBA2 Gene

Crystallin, beta A2:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CRYBA2 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b
SP1: - -
SP2: - -
SP3:
SP4:

Relevant External Links for CRYBA2 Gene

GeneLoc Exon Structure for
CRYBA2
ECgene alternative splicing isoforms for
CRYBA2

Expression for CRYBA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CRYBA2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CRYBA2 Gene

This gene is overexpressed in Pancreas (x15.3) and Pituitary (x14.5).

Protein differential expression in normal tissues from HIPED for CRYBA2 Gene

This gene is overexpressed in Vitreous humor (68.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CRYBA2 Gene



Protein tissue co-expression partners for CRYBA2 Gene

NURSA nuclear receptor signaling pathways regulating expression of CRYBA2 Gene:

CRYBA2

SOURCE GeneReport for Unigene cluster for CRYBA2 Gene:

Hs.415790

Evidence on tissue expression from TISSUES for CRYBA2 Gene

  • Eye(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CRYBA2 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 CRYBA2: view

No data available for mRNA Expression by UniProt/SwissProt for CRYBA2 Gene

Orthologs for CRYBA2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CRYBA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CRYBA2 34 33
  • 100 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CRYBA2 34 33
  • 90.76 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CRYBA2 34 33
  • 90.52 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cryba2 33
  • 90.04 (n)
mouse
(Mus musculus)
Mammalia Cryba2 16 34 33
  • 89.13 (n)
chicken
(Gallus gallus)
Aves CRYBA2 34 33
  • 73.95 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CRYBA2 34
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496418 33
  • 69.76 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1611 33
zebrafish
(Danio rerio)
Actinopterygii cryba2a 34 33
  • 67.4 (n)
OneToMany
cryba2b 34
  • 56 (a)
OneToMany
Dr.29373 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4753 33
Species where no ortholog for CRYBA2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • 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 CRYBA2 Gene

ENSEMBL:
Gene Tree for CRYBA2 (if available)
TreeFam:
Gene Tree for CRYBA2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CRYBA2: view image

Paralogs for CRYBA2 Gene

Paralogs for CRYBA2 Gene

(15) SIMAP similar genes for CRYBA2 Gene using alignment to 2 proteins:

  • CRBA2_HUMAN
  • C9JDH2_HUMAN
genes like me logo Genes that share paralogs with CRYBA2: view

Variants for CRYBA2 Gene

Sequence variations from dbSNP and Humsavar for CRYBA2 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
VAR_070029 Cataract 42 (CTRCT42) [MIM:115900] p.Val50Met
rs1000017858 -- 218,991,844(-) G/A intron_variant
rs1000466540 -- 218,993,445(-) C/A/G upstream_transcript_variant
rs1000679252 -- 218,994,527(-) G/T upstream_transcript_variant
rs1001341845 -- 218,994,131(-) A/C upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for CRYBA2 Gene

Variant ID Type Subtype PubMed ID
dgv7296n54 CNV loss 21841781
nsv584491 CNV loss 21841781
nsv834542 CNV gain 17160897
nsv954839 CNV deletion 24416366

Variation tolerance for CRYBA2 Gene

Residual Variation Intolerance Score: 70% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.60; 30.85% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CRYBA2 Gene

Human Gene Mutation Database (HGMD)
CRYBA2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CRYBA2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CRYBA2 Gene

Disorders for CRYBA2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for CRYBA2 Gene - From: HGMD, OMIM, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
cataract 42
  • ctrct42
cataract 24
  • ctrct24
early-onset nuclear cataract
lens subluxation
  • subluxation of lens
cataract
  • cataracts
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

CRBA2_HUMAN
  • Cataract 42 (CTRCT42) [MIM:115900]: 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. {ECO:0000269 PubMed:23508780}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for CRYBA2

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 CRYBA2: view

No data available for Genatlas for CRYBA2 Gene

Publications for CRYBA2 Gene

  1. Identification of the human beta A2 crystallin gene (CRYBA2): localization of the gene on human chromosome 2 and of the homologous gene on mouse chromosome 1. (PMID: 7490092) Hulsebos TJ … Copeland NG (Genomics 1995) 2 3 4 22 58
  2. Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes. (PMID: 23508780) Reis LM … Semina EV (Human genetics 2013) 3 4 58
  3. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PMID: 20546612) Zhao J … Grant SF (BMC medical genetics 2010) 3 44 58
  4. Many sequence variants affecting diversity of adult human height. (PMID: 18391951) Gudbjartsson DF … Stefansson K (Nature genetics 2008) 3 44 58
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58

Products for CRYBA2 Gene

Sources for CRYBA2 Gene

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