CRYAB (crystallin alpha B)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1410
Gene name Gene Name - the full gene name approved by the HGNC.
Crystallin alpha B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CRYAB
Synonyms (NCBI Gene) Gene synonyms aliases
CMD1II, CRYA2, CTPP2, CTRCT16, HEL-S-101, HSPB5, MFM2, MFM2A, MFM2B
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q23.1
Summary Summary of gene provided in NCBI Entrez 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 th
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(11)
SNP ID Visualize variation Clinical significance Consequence
rs104894201 T>C Pathogenic Missense variant, coding sequence variant
rs104894202 G>A,C Pathogenic Missense variant, coding sequence variant, stop gained
rs144451841 C>A,T Likely-pathogenic Coding sequence variant, missense variant
rs150516929 C>T Likely-benign, uncertain-significance, pathogenic, conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs202024436 T>C Uncertain-significance, likely-pathogenic Splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(11)
miRTarBase ID miRNA Experiments Reference
MIRT1547491 hsa-miR-1298 CLIP-seq
MIRT1547492 hsa-miR-2110 CLIP-seq
MIRT1547493 hsa-miR-4271 CLIP-seq
MIRT1547494 hsa-miR-4420 CLIP-seq
MIRT1547495 hsa-miR-4456 CLIP-seq
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
Transcription factor Regulation Reference
HMGA1 Unknown 17723105
TFAP2A Activation 21556774
TFAP2B Activation 21556774
TP53 Activation 21556774
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(69)
GO ID Ontology Definition Evidence Reference
GO:0001540 Function Amyloid-beta binding IPI 23106396
GO:0001666 Process Response to hypoxia IEA
GO:0002088 Process Lens development in camera-type eye IEA
GO:0005198 Function Structural molecule activity IDA 16303126
GO:0005198 Function Structural molecule activity IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
123590 2389 ENSG00000109846
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P02511
Protein name Alpha-crystallin B chain (Alpha(B)-crystallin) (Heat shock protein beta-5) (HspB5) (Heat shock protein family B member 5) (Renal carcinoma antigen NY-REN-27) (Rosenthal fiber component)
Protein 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. In lens epithelial cells, stabilizes the ATP6V1A protein, preve
PDB 2KLR , 2N0K , 2WJ7 , 2Y1Y , 2Y1Z , 2Y22 , 2YGD , 3J07 , 3L1G , 3SGM , 3SGN , 3SGO , 3SGP , 3SGR , 3SGS , 4M5S , 4M5T , 5VVV , 6BP9 , 7ROJ , 9BEE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00525 Crystallin 1 → 56 Alpha crystallin A chain, N terminal Family
PF00011 HSP20 67 → 162 Hsp20/alpha crystallin family Family
Tissue specificity TISSUE SPECIFICITY: Lens as well as other tissues (PubMed:2387586, PubMed:838078). Expressed in myocardial tissue (PubMed:28493373). {ECO:0000269|PubMed:2387586, ECO:0000269|PubMed:28493373, ECO:0000269|PubMed:838078}.
Sequence
Sequence length 175
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Protein processing in endoplasmic reticulum
Longevity regulating pathway - multiple species 		  HSF1-dependent transactivation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cardiomyopathy Cardiomyopathy, familial restrictive, 1 rs1114167341 N/A
Cataract Cataract 16 multiple types rs1566402656, rs387907336, rs387907337 N/A
Dilated Cardiomyopathy Dilated cardiomyopathy 1II rs1114167341 N/A
Myofibrillar myopathy Myofibrillar myopathy 2 rs1965352990, rs104894201, rs104894202, rs281865141, rs387907339 N/A
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hypertonic Myofibrillar Myopathy fatal infantile hypertonic myofibrillar myopathy N/A N/A ClinVar
Hypertrophic Cardiomyopathy Primary familial hypertrophic cardiomyopathy N/A N/A ClinVar
Hypertrophic cardiomyopathy hypertrophic cardiomyopathy N/A N/A ClinVar
Show/Hide Text Mining Associations (108)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Inhibit 18474516
Acidosis Associate 25962097
Adenoma Associate 24516561
Alexander Disease Associate 1743282, 20110364
Alzheimer Disease Associate 25332170, 26566902
Amyotrophic Lateral Sclerosis Associate 22993064
Amyotrophic lateral sclerosis 1 Associate 27075172
Astrocytoma Associate 10701837
Atrophy Associate 11593501
Autoimmune Diseases Stimulate 18695063