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 e... See more...

Aliases for CRYBA2 Gene

Aliases for CRYBA2 Gene

  • Crystallin Beta A2 2 3 5
  • Beta-Crystallin A2 3 4
  • Eye Lens Structural Protein 3
  • Crystallin, Beta A2 2
  • Beta-A2 Crystallin 4
  • CTRCT42 3
  • CRYBA2 5

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 CRYBA4.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for CRYBA2 Gene

Genomics for CRYBA2 Gene

GeneHancer (GH) Regulatory Elements Pubs

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 1.1 EPDnew Ensembl 250.7 -0.2 -179 0.4 ZMYM3 ZNF316 CTCF CBX8 L3MBTL2 HNRNPL ZFX XRCC5 EZH2 EMSY CRYBA2 HSALNG0022322 CFAP65
GH02J218908 Promoter/Enhancer 1.8 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 10.8 +83.8 83786 2.3 BCLAF1 SP1 MYC ZNF600 ZNF580 ZNF592 ZMYM3 KLF9 POLR2A ZNF10 HSALNG0022314-001 HSALNG0022314-002 lnc-WNT10A-4 STK36 ZNF142 CNOT9 AAMP OBSL1 CDK5R2 ENSG00000235024
GH02J219121 Promoter/Enhancer 1.6 Ensembl ENCODE dbSUPER 10.7 -131.8 -131817 7.5 NCOR1 IKZF1 KLF9 CEBPA ATF3 JUND NFIC HES1 BHLHE40 HOMEZ lnc-IHH-1 SLC23A3 NHEJ1 IHH LOC100129175 MIR375 CRYBA2 FEV LINC00608 RETREG2
GH02J218743 Enhancer 1.3 Ensembl ENCODE dbSUPER 10.1 +247.0 247021 10 MYC IKZF1 SSRP1 ZNF592 CEBPA ZIC2 CHD4 BCL11A KLF11 ZFP64 HSALNG0022293 lnc-RNF25-3 CYP27A1 PLCD4 TTLL4 PRKAG3 WNT6 RNF25 STK36 LINC00608
GH02J218886 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 10.5 +107.0 107022 0.5 BCLAF1 SP1 TRIM22 IRF4 ZBTB33 EBF1 SMARCA5 MAX BHLHE40 ELF1 WNT6 RNU6-642P PRKAG3 LINC00608 FEV CRYBA2 WNT10A CNOT9 HSALNG0022307 LOC107984111
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CRYBA2

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

Genomic Locations for CRYBA2 Gene

Latest Assembly
chr2:218,990,189-218,993,422
(GRCh38/hg38)
Size:
3,234 bases
Orientation:
Minus strand

Previous Assembly
chr2:219,854,912-219,858,144
(GRCh37/hg19 by Entrez Gene)
Size:
3,233 bases
Orientation:
Minus strand

chr2:219,854,911-219,858,143
(GRCh37/hg19 by Ensembl)
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

InterPro:
Blocks:
  • Beta and gamma crystallin
  • Gamma-crystallin related

Suggested Antigen Peptide Sequences for CRYBA2 Gene

GenScript: Design optimal peptide antigens:
  • Beta-A2 crystallin (CRBA2_HUMAN)

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 IBA 21873635
GO:0005515 protein binding IPI 19060904
GO:0042802 identical protein binding 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

miRNA for CRYBA2 Gene

miRTarBase miRNAs that target CRYBA2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CRYBA2

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
extracellular 2
nucleus 2
cytosol 2
plasma membrane 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
peroxisome 0

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

PathCards logo

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 IBA 21873635
GO:0007601 visual perception IBA 21873635
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

2 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CRYBA2

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

Expression for CRYBA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CRYBA2

SOURCE GeneReport for Unigene cluster for CRYBA2 Gene:

Hs.415790

Evidence on tissue expression from TISSUES for CRYBA2 Gene

  • Eye(4.4)

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 29 30
  • 100 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CRYBA2 29 30
  • 90.76 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CRYBA2 29 30
  • 90.52 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cryba2 29
  • 90.04 (n)
Mouse
(Mus musculus)
Mammalia Cryba2 29 16 30
  • 89.13 (n)
OneToOne
Chicken
(Gallus gallus)
Aves CRYBA2 29 30
  • 73.95 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CRYBA2 30
  • 64 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100496418 29
  • 69.76 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.1611 29
Zebrafish
(Danio rerio)
Actinopterygii cryba2a 29 30
  • 67.4 (n)
OneToMany
cryba2b 30
  • 56 (a)
OneToMany
Dr.29373 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4753 29
Species where no ortholog for CRYBA2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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
Alliance of Genome Resources:
Additional Orthologs for CRYBA2

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CRYBA2 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
VAR_070029 Cataract 42 (CTRCT42) [MIM:115900] p.Val50Met
rs141631259 -- p.Pro7Ser

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CRYBA2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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
Leiden Open Variation Database (LOVD)
CRYBA2

SNP Genotyping and Copy Number Assays for research

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

Disorders for CRYBA2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for CRYBA2 Gene - From: OMI, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
cataract 42
  • ctrct42
cataract 24
  • ctrct24
early-onset nuclear cataract
cataract
  • cataracts
cataract 48
  • ctrct48
- 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 variants affecting the gene represented in this entry.

Additional Disease Information for CRYBA2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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
  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 72
  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 40
  4. Many sequence variants affecting diversity of adult human height. (PMID: 18391951) Gudbjartsson DF … Stefansson K (Nature genetics 2008) 3 40
  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

Products for CRYBA2 Gene

Sources for CRYBA2 Gene