Aliases for CRYAB Gene
Aliases for CRYAB Gene
External Ids for CRYAB Gene
- HGNC: 2389
- Entrez Gene: 1410
- Ensembl: ENSG00000109846
- OMIM: 123590
- UniProtKB: P02511
Previous HGNC Symbols for CRYAB Gene
- CRYA2
Previous GeneCards Identifiers for CRYAB Gene
- GC11M114132
- GC11M113291
- GC11M111813
- GC11M111316
- GC11M111284
- GC11M107703
Summaries 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 Myopathy, Myofibrillar, 2 and Cataract 16, Multiple Types. Among its related pathways are Protein processing in endoplasmic reticulum and Longevity regulating pathway. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and microtubule binding. An important paralog of this gene is CRYAA2.
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.
Additional gene information for CRYAB Gene
- Monarch Initiative
- Search for CRYAB at DataMed
- Search for CRYAB at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CRYAB Gene
Genomics for CRYAB Gene
GeneHancer (GH) Regulatory Elements for CRYAB Gene
Promoters and enhancers for CRYAB Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around CRYAB on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the CRYAB gene promoter:
-
- Sp1
- NF-kappaB1
- NF-kappaB
- Max1
- c-Myc
Regulatory Element Products
Genomic Locations for CRYAB Gene
Genomic Locations for CRYAB Gene
- chr11:111,908,565-111,923,722
- (GRCh38/hg38)
- Size:
- 15,158 bases
- Orientation:
- Minus strand
- chr11:111,779,289-111,794,446
- (GRCh37/hg19)
- Size:
- 15,158 bases
- Orientation:
- Minus strand
Genomic View for CRYAB Gene
Genes around CRYAB on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11q23.1 by Entrez Gene
- 11q23.1 by HGNC
- 11q23.1 by Ensembl
CRYAB Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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). Interacts with DES; binds rapidly during early stages of DES filament assembly and a reduced binding seen in the later stages (PubMed:28470624).
Protein Expression for CRYAB Gene
Post-translational modifications for CRYAB Gene
Other Protein References for CRYAB Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for CRYAB (AlphaB Crystallin/CRYAB)
-
Custom Antibody ServicesOriGene Antibodies for CRYAB
- AM06212SU-N
- AP20217PU-N
- AP20218PU-N
- AP20297PU-N
- AP22889PU-N
- SM6011
- SM6011S
- TA303300
- TA323096
- TA323097
- TA326428
- TA326429
- TA326430
- TA500550
- CF500550
- TA500573
- CF500573
- TA500580
- CF500580
- TA500581
- CF500581
- TA500582
- CF500582
- TA500583
- CF500583
- TA500584
- CF500584
- TA500590
- CF500590
- TA500598
- CF500598
- TA500599
- CF500599
- TA500680
- CF500680
- TA500583S
- Novus Biologicals Antibodies for CRYAB
-
Abcam antibodies for CRYAB
- Invitrogen Antibodies for CRYAB
- GeneTex CRYAB Antibody for CRYAB
-
Santa Cruz Biotechnology (SCBT) Antibodies for CRYAB
- Sino Biological Antibodies for CRYAB
Protein Products
-
OriGene Purified Proteins for CRYAB
- Search Origene for MassSpec and Protein Over-expression Lysates for CRYAB
- Origene Custom Protein Services for CRYAB
- ProSpec Recombinant Proteins for CRYAB
- Search GeneTex for Proteins for CRYAB
-
ProSci Proteins for CRYAB
-
Abcam proteins for CRYAB
Assay Products
-
Boster Bio ELISA Kits for CRYAB
No data available for DME Specific Peptides for CRYAB Gene
Domains & Families for CRYAB Gene
Gene Families for CRYAB Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Cancer-related genes
- Disease related genes
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for CRYAB Gene
Suggested Antigen Peptide Sequences for CRYAB Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
P02511- Family:
-
- Belongs to the small heat shock protein (HSP20) family.
Function for CRYAB Gene
Molecular function for CRYAB Gene
- 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.
- 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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001540 | amyloid-beta binding | IPI | 23106396 |
| GO:0005212 | structural constituent of eye lens | IEA | -- |
| GO:0005515 | protein binding | IPI | 11700327 |
| GO:0008017 | microtubule binding | IEA | -- |
| GO:0008092 | cytoskeletal protein binding | IEA | -- |
Phenotypes for CRYAB Gene
- MGI mutant phenotypes for CRYAB:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for CRYAB:
-
- Decreased viability ratio
- Decreased HIV-1 infection
- Negative genetic interaction between PTTG1-/- and PTTG1+/+
- Negative genetic interaction between MUS81-/- and MUS81+/+
- Decreased viability
- no effect
- Decreased hepcidin::fluc mRNA expression
- Decreased NF-kappaB reporter expression
- Increased transferrin (TF) endocytosis
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for CRYAB
-
CRISPR Products
-
OriGene CRISPR knockouts for CRYAB
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CRYAB
- genomics-online: gRNA clones - Search results for 166 available CRYAB gene related products
- Overview of 166 available CRYAB gene related products
- Applied Biological Materials CRISPR for CRYAB
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CRYAB
- GenScript: Design CRISPR guide RNA sequences for CRYAB
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for CRYAB
- Browse OriGene Inhibitory RNA Products For CRYAB
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CRYAB
- genomics-online: shRNA clones - Search results for 166 available CRYAB gene related products
- Overview of 166 available CRYAB gene related products
Clone Products
- Sino Biological Human cDNA Clone for CRYAB
- VectorBuilder custom plasmid, inducible vectors for CRYAB
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CRYAB
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for CRYAB
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CRYAB
- Applied Biological Materials Clones for CRYAB
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for CRYAB
No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Animal Models , 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 (PubMed:19464326). Localizes at the Z-bands and the intercalated disk in cardiomyocytes (PubMed:28493373). {ECO:0000269 PubMed:19464326, ECO:0000269 PubMed:28493373}.
| Compartment | Confidence |
|---|---|
| extracellular | 5 |
| nucleus | 5 |
| cytosol | 5 |
| plasma membrane | 4 |
| mitochondrion | 4 |
| cytoskeleton | 3 |
| golgi apparatus | 2 |
| peroxisome | 1 |
- Cytosol (4)
- Plasma membrane (4)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IDA,IEA | 19464326 |
| GO:0005654 | nucleoplasm | TAS | -- |
| GO:0005737 | cytoplasm | IDA,IEA | 14752512 |
| GO:0005739 | mitochondrion | IEA | -- |
| GO:0005794 | Golgi apparatus | IEA | -- |
Pathways & Interactions for CRYAB Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Longevity regulating pathway | ||
| 2 | Protein processing in endoplasmic reticulum | ||
Pathways by source for CRYAB Gene
2 KEGG pathways for CRYAB Gene
Interacting Proteins for CRYAB Gene
Selected Interacting proteins:
P02511-CRYAB_HUMAN
ENSP00000227251
for CRYAB Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for CRYAB
| 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,NAS | -- |
| GO:0006936 | muscle contraction | TAS | 9731540 |
| GO:0007021 | tubulin complex assembly | IEA | -- |
No data available for SIGNOR curated interactions for CRYAB Gene
Transcripts for CRYAB Gene
mRNA/cDNA for CRYAB Gene
- (4) REFSEQ mRNAs :
- (8) Additional mRNA sequences :
- (64) Selected AceView cDNA sequences:
- (16) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000526180 1017 bps (uc001pmf.3)
- ENST00000524660 464 bps (uc058hfy.1)
- ENST00000533280 545 bps (uc058hfz.1)
- ENST00000525823 915 bps (uc058hga.1)
- ENST00000533475 1119 bps (uc058hgb.1)
CRISPR Products
-
OriGene CRISPR knockouts for CRYAB
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CRYAB
- genomics-online: gRNA clones - Search results for 166 available CRYAB gene related products
- Overview of 166 available CRYAB gene related products
- Applied Biological Materials CRISPR for CRYAB
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for CRYAB
- GenScript: Design CRISPR guide RNA sequences for CRYAB
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for CRYAB
- Browse OriGene Inhibitory RNA Products For CRYAB
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CRYAB
- genomics-online: shRNA clones - Search results for 166 available CRYAB gene related products
- Overview of 166 available CRYAB gene related products
Clone Products
- Sino Biological Human cDNA Clone for CRYAB
- VectorBuilder custom plasmid, inducible vectors for CRYAB
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CRYAB
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for CRYAB
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CRYAB
- Applied Biological Materials Clones for CRYAB
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | · | 5c |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||
| SP2: | - | ||||||||||||||||
| SP3: | |||||||||||||||||
| SP4: |
Expression for CRYAB Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Bone (Muscoskeletal System)
- Cartilage (Muscoskeletal System)
-
Eye (Sensory Organs)
- Glycinergic Amacrine Cells Inner Nuclear Layer
- Anterior Lens Epithelial Cells Lens
- Equatorial Lens Epithelial Cells Lens
- Transitional Lens Fiber Cells Lens
- Secondary Lens Fiber Cells Lens
-
Epithelial Cells
- Outer Root Sheath Cells Outer Root Sheath
- Anterior Lens Epithelial Cells Lens
- Secondary Lens Fiber Cells Lens
- Duct Cells Pancreatic Ducts
- Brain (Nervous System)
- Adipose (Muscoskeletal System)
-
Hair (Integumentary System)
- Outer Root Sheath Cells Outer Root Sheath
- Bulge Stem Cells Bulge
- Heart (Cardiovascular System)
-
Neurons
- Glycinergic Amacrine Cells Inner Nuclear Layer
-
Extraembryonic Mesoderm (Extraembryonic Tissues)
- Extraembryonic Angioblasts Extraembryonic Capillary Plexus
-
Endothelium (Cardiovascular System)
- Extraembryonic Angioblasts Extraembryonic Capillary Plexus
-
Pancreas (Endocrine System)
- Duct Cells Pancreatic Ducts
- Head Mesenchyme (Muscoskeletal System)
- Kidney (Urinary System)
- Spinal Cord (Nervous System)
- Smooth Muscle (Muscoskeletal System)
- Lateral Plate Mesoderm (Gastrulation Derivatives)
- Paraxial Mesoderm (Gastrulation Derivatives)
- Trophoblast (Extraembryonic Tissues)
- Glial Cells (Uncategorized)
-
Uterus (Reproductive System)
-
Prostate (Endocrine System)
-
Placenta (Extraembryonic Tissues)
-
Thyroid (Endocrine System)
-
Gall Bladder (Hepatobiliary System)
-
Lung (Respiratory System)
-
Skeletal Muscle (Muscoskeletal System)
-
Adrenal Gland (Endocrine System)
-
Esophagus (Gastrointestinal Tract)
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).
This gene is overexpressed in Vitreous humor (32.1).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CRYAB Gene
NURSA nuclear receptor signaling pathways regulating expression of CRYAB Gene:
CRYABSOURCE GeneReport for Unigene cluster for CRYAB Gene:
Hs.53454mRNA Expression by UniProt/SwissProt for CRYAB Gene:
P02511-CRYAB_HUMAN
Tissue specificity:
Lens as well as other tissues (PubMed:838078, PubMed:2387586). Expressed in myocardial tissue (PubMed:28493373).
Evidence on tissue expression from TISSUES for CRYAB Gene
- Heart(4.9)
- Muscle(4.9)
- Eye(4.8)
- Nervous system(4.8)
- Liver(4.2)
- Kidney(3)
- Skin(2.3)
- Thyroid gland(2.1)
- Lung(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for CRYAB Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- immune
- nervous
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cranial nerve
- ear
- eye
- head
- larynx
- neck
- vocal cord
Thorax:
- heart
- heart valve
- lung
Limb:
- ankle
- arm
- digit
- elbow
- finger
- foot
- forearm
- hand
- hip
- knee
- lower limb
- shin
- shoulder
- thigh
- toe
- upper limb
- wrist
General:
- blood
- blood vessel
- coagulation system
- peripheral nerve
- peripheral nervous system
- red blood cell
- spinal cord
- white blood cell
Primer Products
-
OriGene qPCR primer pairs and template standards for CRYAB
-
OriGene qPCR primer pairs for CRYAB
- genomics-online: primer clones - Search results for 166 available CRYAB gene related products
- Overview of 166 available CRYAB gene related products
Gene Expression Assay Products
Orthologs for CRYAB Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CRYAB 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | CRYAB 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | CRYAB 34 33 |
|
OneToOne | |
| rat (Rattus norvegicus) |
Mammalia | Cryab 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Cryab 16 34 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | CRYAB 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | CRYAB 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | CRYAB 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | CRYAB 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | cryab 33 |
|
||
| Str.8597 33 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.7573 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | cryabb 34 33 |
|
OneToMany | |
| cryaba 34 |
|
OneToMany | |||
| fruit fly (Drosophila melanogaster) |
Insecta | l(2)efl 33 |
|
||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP007162 33 |
|
||
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.195 34 |
|
OneToMany |
- Species where no ortholog for CRYAB was found in the sources mined by GeneCards:
-
- 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)
- Aminode:
- Evolutionary constrained regions (ECRs) for CRYAB: view image
Paralogs for CRYAB Gene
(6) SIMAP similar genes for CRYAB Gene using alignment to 9 proteins:
- CRYAB_HUMAN
- C3VMY8_HUMAN
- E9PJL7_HUMAN
- E9PNH7_HUMAN
- E9PR44_HUMAN
- E9PRA8_HUMAN
- E9PRS4_HUMAN
- E9PS12_HUMAN
- H0YCW8_HUMAN
Variants for CRYAB Gene
| SNP ID | Clin | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs104894201 | pathogenic, Alpha-B crystallinopathy, Myopathy, myofibrillar, 2 (MFM2) [MIM:608810] | 111,908,934(-) | T/C | coding_sequence_variant, missense_variant | |
| rs104894202 | pathogenic, Alpha-B crystallinopathy | 111,908,841(-) | G/A | coding_sequence_variant, stop_gained | |
| rs11603779 | benign, uncertain-significance, not specified, Cardiovascular phenotype, Posterior polar cataract, Alpha-B crystallinopathy, Myofibrillar Myopathy, Dominant, Dilated cardiomyopathy 1II | 111,910,323(-) | A/C/T | intron_variant | |
| rs141638421 | pathogenic, Dilated cardiomyopathy 1II, Cardiomyopathy, dilated 1II (CMD1II) [MIM:615184] | 111,908,822(-) | C/T | coding_sequence_variant, missense_variant | |
| rs144451841 | likely-pathogenic, Congenital cataract | 111,910,331(-) | C/A/T | coding_sequence_variant, missense_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1070987 | CNV | deletion | 25765185 |
| nsv482162 | CNV | loss | 20164927 |
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)
Additional Variant Information for CRYAB Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CRYAB Gene
Disorders for CRYAB Gene
(25) MalaCards diseases for CRYAB Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| myopathy, myofibrillar, 2 |
|
|
| cataract 16, multiple types |
|
|
| cardiomyopathy, dilated, 1ii |
|
|
| myopathy, myofibrillar, fatal infantile hypertonic, alpha-b crystallin-related |
|
|
| early-onset nuclear cataract |
|
|
Search CRYAB in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
CRYAB_HUMAN- Myopathy, myofibrillar, 2 (MFM2) [MIM:608810]: A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM2 is characterized by 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:12601044, 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.
- 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.
- Note=CRYAB mutations may be involved in restrictive cardiomyopathy (RCM), a rare non-ischemic myocardial disease. RCM is characterized by restrictive ventricular-filling physiology in the presence of normal or reduced diastolic and/or systolic volumes (of 1 or both ventricles), biatrial enlargement, and normal ventricular wall thickness. {ECO:0000269 PubMed:28493373}.
- Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related (MFMFIH-CRYAB) [MIM:613869]: A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFMFIH-CRYAB has 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.
- 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.
Additional Disease Information for CRYAB
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for CRYAB Gene
Publications for CRYAB Gene
- CRYAB promoter polymorphisms: influence on multiple sclerosis susceptibility and clinical presentation. (PMID: 17010329) Stoevring B … Christiansen M (Clinica chimica acta; international journal of clinical chemistry 2007) 3 22 44 58
- Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans. (PMID: 11577372) Berry V … Quinlan RA (American journal of human genetics 2001) 3 4 22 58
- Simultaneous racemization and isomerization at specific aspartic acid residues in alpha B-crystallin from the aged human lens. (PMID: 8142454) Fujii N … Harada K (Biochimica et biophysica acta 1994) 3 4 22 58
- Accumulation of alpha B-crystallin in brains of patients with Alexander's disease is not due to an abnormality of the 5'-flanking and coding sequence of the genomic DNA. (PMID: 1407707) Iwaki A … Sakaki Y (Neuroscience letters 1992) 3 4 22 58
- Copurification of small heat shock protein with alpha B crystallin from human skeletal muscle. (PMID: 1560006) Kato K … Asano T (The Journal of biological chemistry 1992) 3 4 22 58
Products for CRYAB Gene
- R&D Systems Antibodies for CRYAB (AlphaB Crystallin/CRYAB)
- Browse R&D Systems for Human Recombinant Proteins
- Browse R&D Systems for biochemical assays
- Browse Human Proteins and Enzymes
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody ServicesOriGene Antibodies for CRYAB
- AM06212SU-N
- AP20217PU-N
- AP20218PU-N
- AP20297PU-N
- AP22889PU-N
- SM6011
- SM6011S
- TA303300
- TA323096
- TA323097
- TA326428
- TA326429
- TA326430
- TA500550
- CF500550
- TA500573
- CF500573
- TA500580
- CF500580
- TA500581
- CF500581
- TA500582
- CF500582
- TA500583
- CF500583
- TA500584
- CF500584
- TA500590
- CF500590
- TA500598
- CF500598
- TA500599
- CF500599
- TA500680
- CF500680
- TA500583S
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for CRYAB
- Search Origene for MassSpec and Protein Over-expression Lysates for CRYAB
- Origene Custom Protein Services for CRYAB
- Origene sirna, shrna, and RNAi products in human, mouse, rat for CRYAB
- Browse OriGene Inhibitory RNA Products For CRYAB
- OriGene qPCR primer pairs and template standards for CRYAB
- OriGene qPCR primer pairs for CRYAB
- OriGene CRISPR knockouts for CRYAB
- OriGene ORF clones in human for CRYAB
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For CRYAB
- GenScript: Next-day shipping of latest version cDNA ORF clones for CRYAB in any vector
- GenScript Custom Purified and Recombinant Proteins Services for CRYAB
- GenScript Custom Assay Services for CRYAB
- GenScript Custom overexpressing Cell Line Services for CRYAB
- GenScript: Design CRISPR guide RNA sequences for CRYAB
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for CRYAB
- Sino Biological Human cDNA Clone for CRYAB
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Sino Biological Antibodies for CRYAB
- Browse Sino Biological Assays
- Browse Antibodies
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for CRYAB
- Novus Biologicals lysates and proteins for CRYAB
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for CRYAB
- Abcam proteins for CRYAB
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- ProSpec Recombinant Proteins for CRYAB
- Cyagen custom Knockout/knockin (KOKI) mouse models for CRYAB
- VectorBuilder custom plasmid, inducible vectors for CRYAB
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for CRYAB
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for CRYAB
- antibodies-online: Search results for 513 available CRYAB Antibodies ranked by validation data
- Compare Top CRYAB Antibodies
- antibodies-online: Search results for 48 available CRYAB Elisa Kits ranked by validation data
- Compare Top CRYAB Elisa Kits
- antibodies-online: Search results for 37 available CRYAB Proteins ranked by validation data
- Compare Top CRYAB Proteins
- GeneTex CRYAB Antibody for CRYAB
- Search GeneTex for Proteins for CRYAB
- Santa Cruz Biotechnology (SCBT) Antibodies for CRYAB
- Search Santa Cruz Biotechnology (SCBT) for CRYAB siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for CRYAB
- Search for CRYAB Antibodies at ProSci
- Custom Antibody Services
- ProSci Proteins for CRYAB
- Horizon Cell Lines for CRYAB
- genomics-online: cdna clones - Search results for 166 available CRYAB gene related products
- Overview of 166 available CRYAB gene related products
- orf clones - Search results for 166 available CRYAB gene related products
- Overview of 166 available CRYAB gene related products
- genomics-online: gRNA clones - Search results for 166 available CRYAB gene related products
- Overview of 166 available CRYAB gene related products
- genomics-online: primer clones - Search results for 166 available CRYAB gene related products
- Overview of 166 available CRYAB gene related products
- genomics-online: shRNA clones - Search results for 166 available CRYAB gene related products
- Overview of 166 available CRYAB gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for CRYAB
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for CRYAB
- GeneCopoeia miRNA 3'UTR Target clone products for CRYAB
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CRYAB
Sources for CRYAB Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt