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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, Anterior Polar. 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.

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

Regulatory Elements for CRYBA2 Gene

Enhancers for CRYBA2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH02G218908 2 FANTOM5 Ensembl ENCODE dbSUPER 10.8 +84.0 83958 2.4 HDGF PKNOX1 FOXA2 MLX CREB3L1 ARNT ZFP64 WRNIP1 ARID4B SIN3A CNOT9 CDK5R2 ENSG00000235024 LINC00608 FEV CRYBA2 PRKAG3 ENSG00000269068 IHH PLCD4
GH02G219121 1.5 Ensembl ENCODE dbSUPER 10.7 -131.5 -131513 7.2 FOXA2 ATF1 ARID4B YBX1 TCF12 FOS SP5 KAT8 SREBF1 MIER3 SLC23A3 NHEJ1 IHH LOC100129175 MIR375 CRYBA2 FEV LINC00608 CNPPD1 RETREG2
GH02G218886 1.4 FANTOM5 ENCODE dbSUPER 10.5 +107.2 107157 0.5 HDGF TBP TBL1XR1 WRNIP1 SIN3A ZNF143 RELB IKZF2 CREM USF2 WNT6 RNU6-642P PRKAG3 LINC00608 FEV CRYBA2 WNT10A CNOT9 LOC105373882
GH02G219110 1.2 ENCODE dbSUPER 10.8 -118.7 -118726 3.0 ELF3 FOXA2 ATF1 MLX ARID4B THRB ZNF48 ZSCAN9 RAD21 RARA IHH LOC100129175 MIR375 CRYBA2 FEV LINC00608 PTPRN NHEJ1 SLC23A3 ENSG00000235024
GH02G218870 0.8 Ensembl 11.7 +120.8 120843 3.6 CTCF MXI1 USF1 SUZ12 TEAD4 RAD21 ZFHX2 ZNF366 SMC3 PRDM10 LINC00608 FEV CRYBA2 RNU6-642P PRKAG3 LOC100129175 MIR375 RNF25 ZNF142 BCS1L
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CRYBA2 on UCSC Golden Path with GeneCards custom track

Genomic Location for CRYBA2 Gene

Chromosome:
2
Start:
218,990,189 bp from pter
End:
218,993,556 bp from pter
Size:
3,368 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

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

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

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

Inhibitory RNA Products

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 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

Unigene Clusters for CRYBA2 Gene

Crystallin, beta A2:
Representative Sequences:

Inhibitory RNA Products

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, PaxDb, 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
Organs:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with CRYBA2: view

Primer Products

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 35
  • 100 (n)
dog
(Canis familiaris)
Mammalia CRYBA2 34 35
  • 90.76 (n)
cow
(Bos Taurus)
Mammalia CRYBA2 34 35
  • 90.52 (n)
rat
(Rattus norvegicus)
Mammalia Cryba2 34
  • 90.04 (n)
mouse
(Mus musculus)
Mammalia Cryba2 34 16 35
  • 89.13 (n)
chicken
(Gallus gallus)
Aves CRYBA2 34 35
  • 73.95 (n)
lizard
(Anolis carolinensis)
Reptilia CRYBA2 35
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100496418 34
  • 69.76 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1611 34
zebrafish
(Danio rerio)
Actinopterygii cryba2a 34 35
  • 67.4 (n)
cryba2b 35
  • 56 (a)
OneToMany
Dr.29373 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4753 34
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)

Paralogs for CRYBA2 Gene

Paralogs for CRYBA2 Gene

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

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 Sequence Context AA Info Type
VAR_070029 Cataract 42 (CTRCT42) [MIM:115900]
rs1000017858 -- 218,991,844(+) GGAAT(A/G)TGGGG intron-variant
rs1000466540 -- 218,993,445(+) CCGAG(A/C/G)TTTAT upstream-variant-2KB
rs1000679252 -- 218,994,527(+) TTTGA(G/T)ACCAG upstream-variant-2KB
rs1001341845 -- 218,994,131(+) TAGGG(A/C)GTGGC upstream-variant-2KB

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)

Relevant External Links 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

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

Disorder Aliases PubMed IDs
cataract 42
  • a cataract that has_material_basis_in heterozygous mutation in the cryba2 gene on chromosome 2q35.
cataract 24, anterior polar
  • cataract 24
early-onset nuclear cataract
- 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.

Relevant External Links for CRYBA2

Genetic Association Database (GAD)
CRYBA2
Human Genome Epidemiology (HuGE) Navigator
CRYBA2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CRYBA2
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 T.J.M. … Copeland N.G. (Genomics 1995) 2 3 4 22 64
  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 L.M. … Semina E.V. (Hum. Genet. 2013) 3 4 64
  3. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PMID: 20546612) Zhao J. … Grant S.F. (BMC Med. Genet. 2010) 3 46 64
  4. Many sequence variants affecting diversity of adult human height. (PMID: 18391951) Gudbjartsson D.F. … Stefansson K. (Nat. Genet. 2008) 3 46 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for CRYBA2 Gene

Sources for CRYBA2 Gene

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