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Aliases for CRYAB Gene

Aliases for CRYAB Gene

  • Crystallin, Alpha B 2 3
  • Renal Carcinoma Antigen NY-REN-27 3 4
  • Heat Shock Protein Beta-5 3 4
  • Rosenthal Fiber Component 3 4
  • CRYA2 3 4
  • HSPB5 3 4
  • Epididymis Secretory Protein Li 101 3
  • Heat-Shock 20 KD Like-Protein 3
  • Alpha(B)-Crystallin 4
  • HEL-S-101 3
  • CTRCT16 3
  • CMD1II 3
  • CTPP2 3
  • MFM2 3

External Ids for CRYAB Gene

Previous HGNC Symbols for CRYAB Gene

  • CRYA2

Previous GeneCards Identifiers for CRYAB Gene

  • GC11M114132
  • GC11M113291
  • GC11M111813
  • GC11M111316
  • GC11M111284
  • GC11M107703

Summaries for CRYAB Gene

Entrez Gene Summary for CRYAB Gene

  • Mammalian lens crystallins are divided into alpha, beta, and gamma families. Alpha crystallins are composed of two gene products: alpha-A and alpha-B, for acidic and basic, respectively. Alpha crystallins can be induced by heat shock and are members of the small heat shock protein (HSP20) family. They act as molecular chaperones although they do not renature proteins and release them in the fashion of a true chaperone; instead they hold them in large soluble aggregates. Post-translational modifications decrease the ability to chaperone. These heterogeneous aggregates consist of 30-40 subunits; the alpha-A and alpha-B subunits have a 3:1 ratio, respectively. Two additional functions of alpha crystallins are an autokinase activity and participation in the intracellular architecture. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Alpha-A and alpha-B gene products are differentially expressed; alpha-A is preferentially restricted to the lens and alpha-B is expressed widely in many tissues and organs. Elevated expression of alpha-B crystallin occurs in many neurological diseases; a missense mutation cosegregated in a family with a desmin-related myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]

GeneCards Summary for CRYAB Gene

CRYAB (Crystallin, Alpha B) is a Protein Coding gene. Diseases associated with CRYAB include posterior polar cataract and fatal infantile hypertonic myofibrillar myopathy. Among its related pathways are Protein processing in endoplasmic reticulum. GO annotations related to this gene include protein homodimerization activity and microtubule binding. An important paralog of this gene is CRYAA.

UniProtKB/Swiss-Prot for CRYAB Gene

  • May contribute to the transparency and refractive index of the lens. Has chaperone-like activity, preventing aggregation of various proteins under a wide range of stress conditions

Gene Wiki entry for CRYAB Gene

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

Genomics for CRYAB Gene

Regulatory Elements for CRYAB Gene

Genomic Location for CRYAB Gene

Chromosome:
11
Start:
111,908,565 bp from pter
End:
111,923,722 bp from pter
Size:
15,158 bases
Orientation:
Minus strand

Genomic View for CRYAB Gene

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

RefSeq DNA sequence for CRYAB Gene

Proteins for CRYAB Gene

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

    Protein Symbol:
    P02511-CRYAB_HUMAN
    Recommended name:
    Alpha-crystallin B chain
    Protein Accession:
    P02511
    Secondary Accessions:
    • B0YIX0
    • O43416
    • Q9UC37
    • Q9UC38
    • Q9UC39
    • Q9UC40
    • Q9UC41

    Protein attributes for CRYAB Gene

    Size:
    175 amino acids
    Molecular mass:
    20159 Da
    Quaternary structure:
    • Heteropolymer composed of three CRYAA and one CRYAB subunits (PubMed:20836128). Aggregates with homologous proteins, including the small heat shock protein HSPB1, to form large heteromeric complexes (PubMed:10751411). Inter-subunit bridging via zinc ions enhances stability, which is crucial as there is no protein turn over in the lens (PubMed:22890888). Interacts with HSPBAP1 and TTN/titin (PubMed:14676215). Interacts with TMEM109 (PubMed:23542032).

    Three dimensional structures from OCA and Proteopedia for CRYAB Gene

neXtProt entry for CRYAB Gene

Proteomics data for CRYAB Gene at MOPED

Post-translational modifications for CRYAB Gene

  • Glycosylation at Thr 170
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for CRYAB (AlphaB Crystallin/CRYAB)
  • Cell Signaling Technology (CST) Antibodies for CRYAB (CRYAB)

No data available for DME Specific Peptides for CRYAB Gene

Domains & Families for CRYAB Gene

Gene Families for CRYAB Gene

Suggested Antigen Peptide Sequences for CRYAB Gene

Graphical View of Domain Structure for InterPro Entry

P02511

UniProtKB/Swiss-Prot:

CRYAB_HUMAN :
  • Belongs to the small heat shock protein (HSP20) family.
Family:
  • Belongs to the small heat shock protein (HSP20) family.
genes like me logo Genes that share domains with CRYAB: view

Function for CRYAB Gene

Molecular function for CRYAB Gene

GENATLAS Biochemistry:
crystallin,alpha polypeptide 2 (alphaB),selectively expressed in slow-twitch oxidative muscle fibers,with chaperone-like activity and maintenance of cytoskeletal network in muscle,involved in desmin related myopathy and in cataract,alpha crystallin/small hsp family
UniProtKB/Swiss-Prot Function:
May contribute to the transparency and refractive index of the lens. Has chaperone-like activity, preventing aggregation of various proteins under a wide range of stress conditions

Gene Ontology (GO) - Molecular Function for CRYAB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005212 structural constituent of eye lens IEA --
GO:0005515 protein binding IPI 11700327
GO:0008017 microtubule binding IEA --
GO:0008092 cytoskeletal protein binding --
GO:0042802 identical protein binding IPI 12601044
genes like me logo Genes that share ontologies with CRYAB: view
genes like me logo Genes that share phenotypes with CRYAB: view

Animal Models for CRYAB Gene

MGI Knock Outs for CRYAB:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CRYAB

In Situ Assay Products

Flow Cytometry Products

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

Localization for CRYAB Gene

Subcellular locations from UniProtKB/Swiss-Prot for CRYAB Gene

Cytoplasm. Nucleus. Note=Translocates to the nucleus during heat shock and resides in sub-nuclear structures known as SC35 speckles or nuclear splicing speckles.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CRYAB Gene COMPARTMENTS Subcellular localization image for CRYAB gene
Compartment Confidence
extracellular 5
nucleus 5
cytosol 4
cytoskeleton 2
golgi apparatus 2
mitochondrion 2
plasma membrane 2

Gene Ontology (GO) - Cellular Components for CRYAB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA 19464326
GO:0005737 cytoplasm IDA 14752512
GO:0005739 mitochondrion IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005829 cytosol IEA --
genes like me logo Genes that share ontologies with CRYAB: view

Pathways & Interactions for CRYAB Gene

genes like me logo Genes that share pathways with CRYAB: view

Pathways by source for CRYAB Gene

1 KEGG pathway for CRYAB Gene

PCR Array Products

Gene Ontology (GO) - Biological Process for CRYAB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001666 response to hypoxia IEA --
GO:0002088 lens development in camera-type eye IEA --
GO:0006457 protein folding IEA --
GO:0006936 muscle contraction TAS 9731540
GO:0007021 tubulin complex assembly IEA --
genes like me logo Genes that share ontologies with CRYAB: view

No data available for SIGNOR curated interactions for CRYAB Gene

Drugs & Compounds for CRYAB Gene

(12) Drugs for CRYAB Gene - From: NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Chloramphenicol Approved Pharma 6
Progesterone Approved Pharma Inhibition, Pore Blocker Endogenous progesterone receptor agonist 473
methionine sulfoxide Experimental Pharma 0
Sucrose Experimental Pharma 0
thymidine Experimental Pharma 0

(12) Additional Compounds for CRYAB Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Actinomycin D
aspartate
cadmium
  • Cadmium atom
  • Cadmium elemental
  • Cadmium metallicum
  • Cd
  • Colloidal cadmium
7440-43-9
glucose
H2O2
genes like me logo Genes that share compounds with CRYAB: view

Transcripts for CRYAB Gene

Unigene Clusters for CRYAB Gene

Crystallin, alpha B:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CRYAB

Flow Cytometry Products

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

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

Relevant External Links for CRYAB Gene

GeneLoc Exon Structure for
CRYAB
ECgene alternative splicing isoforms for
CRYAB

Expression for CRYAB Gene

mRNA expression in normal human tissues for CRYAB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Heart - Left Ventricle (x10.7), Muscle - Skeletal (x5.5), and Heart - Atrial Appendage (x5.2).

Protein differential expression in normal tissues from HIPED for CRYAB Gene

This gene is overexpressed in Vitreous humor (32.1).

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



SOURCE GeneReport for Unigene cluster for CRYAB Gene Hs.53454

mRNA Expression by UniProt/SwissProt for CRYAB Gene

P02511-CRYAB_HUMAN
Tissue specificity: Lens as well as other tissues
genes like me logo Genes that share expression patterns with CRYAB: view

Protein tissue co-expression partners for CRYAB Gene

Primer Products

In Situ Assay Products

Orthologs for CRYAB Gene

This gene was present in the common ancestor of animals.

Orthologs for CRYAB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CRYAB 36
  • 99 (a)
OneToOne
CRYAB 35
  • 99.81 (n)
  • 99.43 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia CRYAB 36
  • 81 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cryab 36
  • 98 (a)
OneToOne
Cryab 16
Cryab 35
  • 91.24 (n)
  • 97.71 (a)
oppossum
(Monodelphis domestica)
Mammalia CRYAB 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CRYAB 36
  • 98 (a)
OneToOne
CRYAB 35
  • 94.48 (n)
  • 98.29 (a)
cow
(Bos Taurus)
Mammalia CRYAB 36
  • 98 (a)
OneToOne
CRYAB 35
  • 93.71 (n)
  • 97.71 (a)
rat
(Rattus norvegicus)
Mammalia Cryab 35
  • 91.81 (n)
  • 97.14 (a)
chicken
(Gallus gallus)
Aves CRYAB 36
  • 78 (a)
OneToOne
CRYAB 35
  • 74.14 (n)
  • 77.01 (a)
lizard
(Anolis carolinensis)
Reptilia CRYAB 36
  • 81 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.7573 35
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.8597 35
cryab 35
  • 67.05 (n)
  • 69.36 (a)
zebrafish
(Danio rerio)
Actinopterygii cryabb 36
  • 57 (a)
OneToMany
cryaba 36
  • 62 (a)
OneToMany
cryabb 35
  • 65.85 (n)
  • 63.19 (a)
fruit fly
(Drosophila melanogaster)
Insecta l(2)efl 35
  • 55.63 (n)
  • 47.02 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007162 35
  • 52.89 (n)
  • 49.33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.195 36
  • 36 (a)
OneToMany
Species with no ortholog for CRYAB:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 CRYAB Gene

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

Paralogs for CRYAB Gene

Paralogs for CRYAB Gene

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

Variants for CRYAB Gene

Sequence variations from dbSNP and Humsavar for CRYAB Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs2070894 -- 111,910,113(-) TTGAT(C/T)GCCTT intron-variant
rs11214039 -- 111,909,104(+) AGCTT(C/T)GTTTC intron-variant
rs11603779 Benign, Benign 111,910,323(+) GCTAC(A/C/T)TACCT intron-variant
rs12280303 -- 111,909,398(+) aaatG(A/G)CTCCA intron-variant
rs41302377 -- 111,909,137(+) TGCCT(A/G)GGTAG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv482162 CNV Loss 20164927

Variation tolerance for CRYAB Gene

Residual Variation Intolerance Score: 66.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.67; 14.35% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CRYAB Gene

HapMap Linkage Disequilibrium report
CRYAB
Human Gene Mutation Database (HGMD)
CRYAB

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

Disorders for CRYAB Gene

MalaCards: The human disease database

(24) MalaCards diseases for CRYAB Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
posterior polar cataract
  • cataract, posterior polar
fatal infantile hypertonic myofibrillar myopathy
alpha-b crystallin-related late-onset distal myopathy
  • late-onset distal crystallinopathy
posterior polar cataract 2
myopathy, myofibrillar, 2
  • myopathy, myofibrillar, alpha-b crystallin-related
- elite association
Search CRYAB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CRYAB_HUMAN
  • Cardiomyopathy, dilated 1II (CMD1II) [MIM:615184]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269 PubMed:16483541, ECO:0000269 PubMed:16793013}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cataract 16, multiple types (CTRCT16) [MIM:613763]: 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. CTRCT16 includes posterior polar cataract, among others. Posterior polar cataract is a subcapsular opacity, usually disk-shaped, located at the back of the lens. {ECO:0000269 PubMed:11577372}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myopathy, myofibrillar, 2 (MFM2) [MIM:608810]: A neuromuscular disorder that results in weakness of the proximal and distal limb muscles, weakness of the neck, velopharynx and trunk muscles, hypertrophic cardiomyopathy, and cataract in a subset of patients. {ECO:0000269 PubMed:14681890, ECO:0000269 PubMed:21920752, ECO:0000269 PubMed:9731540}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related (MFMFIH-CRYAB) [MIM:613869]: A muscular dystrophy with onset in the first weeks of life after a normal neonatal period. Affected infants show rapidly progressive muscular rigidity of the trunk and limbs associated with increasing respiratory difficulty resulting in death before age 3 years. {ECO:0000269 PubMed:21337604}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CRYAB

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

No data available for Genatlas for CRYAB Gene

Publications for CRYAB Gene

  1. Later retinal degeneration following childhood surgical aphakia in a family with recessive CRYAB mutation (p.R56W). (PMID: 20141356) Khan A.O. … Alkurarya F.S. (Ophthalmic Genet. 2010) 23 67
  2. The p.G154S mutation of the alpha-B crystallin gene (CRYAB) causes late-onset distal myopathy. (PMID: 20171888) Reilich P. … Lochmuller H. (Neuromuscul. Disord. 2010) 23 67
  3. Identification of a novel CRYAB mutation associated with autosomal recessive juvenile cataract in a Saudi family. (PMID: 19461931) Safieh L.A. … Alkuraya F.S. (Mol. Vis. 2009) 23 67
  4. Alpha-B-crystallin as a tissue marker of epileptic foci in paediatric resections. (PMID: 19831124) Sarnat H.B. … Flores-Sarnat L. (Can J Neurol Sci 2009) 23 67
  5. alpha B-crystallin is a cytoplasmic interaction partner of the kidney-specific cadherin-16. (PMID: 18343407) Thedieck C. … Klein G. (J. Mol. Biol. 2008) 23 67

Products for CRYAB Gene

Sources for CRYAB Gene

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