CRYAB - crystallin alpha B Gene
Also Known as MFM2; CRYA2; CTPP2; HSPB5; CMD1II; CTRCT16; HEL-S-101
Species: Homo sapiens
About CRYAB
This gene has 21 transcripts (splice variants), 218 orthologues, 8 paralogues and is associated with 14 phenotypes. Biased expression in heart (RPKM 784.6), brain (RPKM 268.6) and 5 other tissues.
Summary
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. 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 2019]
CRYAB Products (6)
| mRNA | Protein | Name |
|---|---|---|
| NM_001289807.1 | NP_001276736.1 | alpha-crystallin B chain isoform 1 |
| NM_001289808.2 | NP_001276737.1 | alpha-crystallin B chain isoform 1 |
| NM_001330379.1 | NP_001317308.1 | alpha-crystallin B chain isoform 2 |
| NM_001368245.1 | NP_001355174.1 | alpha-crystallin B chain isoform 1 |
| NM_001368246.1 | NP_001355175.1 | alpha-crystallin B chain isoform 2 |
| NM_001885.3 | NP_001876.1 | alpha-crystallin B chain isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables amyloid-beta binding |
IPI
IPI: Inferred from physical interaction
|
23106396 | GOA |
| enables identical protein binding |
IPI
IPI: Inferred from physical interaction
|
12601044 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
11700327 | GOA |
| enables protein homodimerization activity |
IPI
IPI: Inferred from physical interaction
|
19646995 | GOA |
| enables protein-containing complex binding |
IPI
IPI: Inferred from physical interaction
|
23106396 | GOA |
| enables structural molecule activity |
IDA
IDA: Inferred from direct assay
|
16303126 | GOA |
| enables unfolded protein binding |
IPI
IPI: Inferred from physical interaction
|
16303126 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| acts upstream of or within cellular response to gamma radiation |
IMP
IMP: Inferred from mutant phenotype
|
23542032 | GOA |
| involved in negative regulation of DNA-templated transcription |
IDA
IDA: Inferred from direct assay
|
20587334 | GOA |
| involved in negative regulation of amyloid fibril formation |
IDA
IDA: Inferred from direct assay
|
23106396 | GOA |
| involved in negative regulation of apoptotic process |
IDA
IDA: Inferred from direct assay
|
14752512 | GOA |
| involved in negative regulation of intracellular transport |
IDA
IDA: Inferred from direct assay
|
14752512 | GOA |
| involved in negative regulation of protein-containing complex assembly |
IDA
IDA: Inferred from direct assay
|
23106396 | GOA |
| involved in protein stabilization |
IMP
IMP: Inferred from mutant phenotype
|
12235146 | GOA |
| acts upstream of or within regulation of programmed cell death |
IMP
IMP: Inferred from mutant phenotype
|
23542032 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
14752512 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
19464326 | GOA |
| part of protein-containing complex |
IDA
IDA: Inferred from direct assay
|
16303126 | GOA |
CRYAB Protein Structure
Crystallin: Alpha crystallin A chain, N terminal (1 - 59)
HSP20: Hsp20/alpha crystallin family (68 - 161)
- 0
- 100
- 175 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
alpha-crystallin B chain |
|
CRYAB Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
CRYAB | P02511 | ADAMTSL4 | Homo sapiens | Q6UY14-3 | 32814053 | |
|
Intra
|
CRYAB | P02511 | ADAMTSL4 | Homo sapiens | Q6UY14-3 | 32814053 | |
|
Intra
|
CRYAB | P02511 | ADAMTSL4 | Homo sapiens | Q6UY14-3 | 32814053 | |
|
Intra
|
CRYAB | P02511 | CRYGS | Homo sapiens | P22914 | 24183572 | |
|
Intra
|
CRYAB | P02511 | CRYGS | Homo sapiens | P22914 | 24183572 | |
|
Intra
|
CRYAB | P02511 | KRTAP6-1 | Homo sapiens | Q3LI64 | 32296183 | |
|
Cross
|
CRYAB | P02511 | Tmem109 | Mus musculus | Q3UBX0 | 23542032 | |
|
Intra
|
CRYAB | P02511 | HSPB1 | Homo sapiens | P04792 | 28514442 | |
|
Intra
|
CRYAB | P02511 | HSPB1 | Homo sapiens | P04792 | 33961781 | |
|
Intra
|
CRYAB | P02511 | HSPB1 | Homo sapiens | P04792 | 18330356 | |
|
Intra
|
CRYAB | P02511 | HSPB1 | Homo sapiens | P04792 | 12601044 | |
|
Intra
|
CRYAB | P02511 | HSPB1 | Homo sapiens | P04792 | 23188086 | |
|
Intra
|
CRYAB | P02511 | CTNNB1 | Homo sapiens | P35222 | 22158051 | |
|
Intra
|
CRYAB | P02511 | CTNNB1 | Homo sapiens | P35222 | 32814053 | |
|
Intra
|
CRYAB | P02511 | CTNNB1 | Homo sapiens | P35222 | 32814053 | |
|
Intra
|
CRYAB | P02511 | CTNNB1 | Homo sapiens | P35222 | 22158051 | |
|
Intra
|
CRYAB | P02511 | CTNNB1 | Homo sapiens | P35222 | 32814053 | |
|
Intra
|
CRYAB | P02511 | CRYGC | Homo sapiens | P07315 | 11700327 | |
|
Intra
|
CRYAB | P02511 | CRYGC | Homo sapiens | P07315 | 12601044 | |
|
Intra
|
CRYAB | P02511 | CRYGC | Homo sapiens | P07315 | 11700327 | |
|
Intra
|
CRYAB | P02511 | CRYAA | Homo sapiens | P02489 | 12601044 | |
|
Intra
|
CRYAB | P02511 | CRYAA | Homo sapiens | P02489 | 11700327 | |
|
Intra
|
CRYAB | P02511 | CRYAA | Homo sapiens | P02489 | 22153508 | |
|
Intra
|
CRYAB | P02511 | CRYAA | Homo sapiens | P02489 | 25910212 | |
|
Intra
|
CRYAB | P02511 | CRYAA | Homo sapiens | P02489 | 32296183 | |
|
Intra
|
CRYAB | P02511 | CRYAA | Homo sapiens | P02489 | 11700327 | |
|
Intra
|
CRYAB | P02511 | CRYAA | Homo sapiens | P02489 | 25910212 | |
|
Intra
|
CRYAB | P02511 | CRYAA | Homo sapiens | P02489 | 32296183 | |
|
Intra
|
CRYAB | P02511 | CRYAA | Homo sapiens | P02489 | 23188086 | |
|
Intra
|
CRYAB | P02511 | CRYAA | Homo sapiens | P02489 | 25910212 | |
|
Intra
|
CRYAB | P02511 | CRYAB | Homo sapiens | P02511 | 12601044 | |
|
Intra
|
CRYAB | P02511 | CRYAB | Homo sapiens | P02511 | 22143763 | |
|
Intra
|
CRYAB | P02511 | CRYAB | Homo sapiens | P02511 | 22153508 | |
|
Intra
|
CRYAB | P02511 | CRYAB | Homo sapiens | P02511 | 19651604 | |
|
Intra
|
CRYAB | P02511 | CRYAB | Homo sapiens | P02511 | 22153508 | |
|
Intra
|
CRYAB | P02511 | CRYAB | Homo sapiens | P02511 | 12601044 | |
|
Intra
|
CRYAB | P02511 | CRYAB | Homo sapiens | P02511 | 22143763 | |
|
Intra
|
CRYAB | P02511 | CRYAB | Homo sapiens | P02511 | 21464278 | |
|
Intra
|
CRYAB | P02511 | CRYAB | Homo sapiens | P02511 | 22153508 | |
|
Intra
|
CRYAB | P02511 | CRYAB | Homo sapiens | P02511 | 19651604 | |
|
Intra
|
CRYAB | P02511 | CRYAB | Homo sapiens | P02511 | 19651604 | |
|
Intra
|
CRYAB | P02511 | CRYAB | Homo sapiens | P02511 | 20802487 | |
|
Intra
|
CRYAB | P02511 | CRYAB | Homo sapiens | P02511 | 18330356 | |
|
Intra
|
CRYAB | P02511 | CRYAB | Homo sapiens | P02511 | 21464278 | |
|
Intra
|
CRYAB | P02511 | CRYAB | Homo sapiens | P02511 | 23188086 | |
|
Intra
|
CRYAB | P02511 | CRYAB | Homo sapiens | P02511 | 19651604 | |
|
Intra
|
CRYAB | P02511 | CRYAB | Homo sapiens | P02511 | 21464278 | |
|
Intra
|
CRYAB | P02511 | CRYAB | Homo sapiens | P02511 | 22143763 | |
|
Intra
|
CRYAB | P02511 | CRYAB | Homo sapiens | P02511 | 22143763 | |
|
Intra
|
CRYAB | P02511 | CRYAB | Homo sapiens | P02511 | 20802487 | |
|
Intra
|
CRYAB | P02511 | HSPB2 | Homo sapiens | Q16082 | 23188086 | |
|
Intra
|
CRYAB | P02511 | HSPB2 | Homo sapiens | Q16082 | 26465331 | |
|
Intra
|
CRYAB | P02511 | GORASP2 | Homo sapiens | Q9H8Y8 | 32296183 | |
|
Intra
|
CRYAB | P02511 | APP | Homo sapiens | P05067 | 32814053 | |
|
Intra
|
CRYAB | P02511 | APP | Homo sapiens | P05067 | 32814053 | |
|
Intra
|
CRYAB | P02511 | APP | Homo sapiens | P05067 | 32814053 |
Recombinant CRYAB Proteins
| Cat. No. | Product Name | Accession | Purity |
|---|---|---|---|
| HY-P7873 | Alpha-crystallin B chain/CRYAB Protein, Human (His) | P02511 (M1-K175) | ≥ 95%, as determined by reducing SDS-PAGE. |
CRYAB Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P81547 | Alpha B Crystallin Antibody (YA1292) | WB, IHC-P, IHC-F, ICC/IF, IF-Tissue, IP | Human, Rat, Mouse |
| HY-P85110 | Alpha B Crystallin Antibody (YA4802) | WB, IHC-P, ICC/IF, ELISA | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Myopathy, Myofibrillar, 2 |
|
|
| Cardiomyopathy, Dilated, 1ii |
|
|
| Cataract 16, Multiple Types |
|
|
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
|
| Fatal Infantile Hypertonic Myofibrillar Myopathy |
|
|
| Cardiomyopathy, Familial Restrictive, 1 |
|
|
| Early-Onset Posterior Polar Cataract |
|
|
| Early-Onset Lamellar Cataract |
|
|
| Early-Onset Nuclear Cataract |
|
|
| Familial Isolated Dilated Cardiomyopathy |
|
|
| Posterior Polar Cataract |
|
|
| Alexander Disease |
|
|
| Myopathy |
|
|
| Myofibrillar Myopathy |
|
|
| Myopathy, Myofibrillar, 1 |
|
|
| Cataract |
|
|
| Presbyopia |
|
|
| Restrictive Cardiomyopathy |
|
|
| Neuronopathy, Distal Hereditary Motor, Type Iic |
|
|
| Frontotemporal Dementia |
|
|
| Creutzfeldt-Jakob Disease |
|
|
| Subependymal Giant Cell Astrocytoma |
|
|
| Myopathy, Myofibrillar, 4 |
|
|
| Multiple Sclerosis |
|
|
| Myopathy, Myofibrillar, 5 |
|
|
| Myopathy, Myofibrillar, 6 |
|
|
| Neuromuscular Disease |
|
|
| Intraocular Pressure Quantitative Trait Locus |
|
|
| Distal Hereditary Motor Neuronopathy Type 2 |
|
|
| Hypertrophic Cardiomyopathy |
|
|
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
|
| Dilated Cardiomyopathy |
|
|
| Myotonic Dystrophy 1 |
|
|
| Pick Disease Of Brain |
|
|
| Glioblastoma |
|
|
| Multiple System Atrophy 1 |
|
|
| Amyotrophic Lateral Sclerosis 1 |
|
|
| Myopathy, Myofibrillar, 3 |
|
|
| Leukodystrophy |
|
|
| Lens Disease |
|
|
| Retinal Degeneration |
|
|
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
|
| Central Nervous System Disease |
|
|
| Alzheimer Disease, Familial, 1 |
|
|
| Fundus Dystrophy |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Canis familiaris | CRYAB | VGNC | VGNC:39635 |
| Macaca mulatta | CRYAB | VGNC | VGNC:71501 |
| Felis catus | CRYAB | VGNC | VGNC:61197 |
| Bos taurus | CRYAB | VGNC | VGNC:27732 |
| Mus musculus | CRYAB | MGD | MGI:88516 |
| Rattus norvegicus | CRYAB | RGD | RGD:2414 |
| Others | CRYAB | NCBI |