• Gene id: 1410

Gene Summary

• Gene Symbol: CRYAB   Gene   UCSC   Ensembl
• Aliases: CMD1II, CRYA2, CTPP2, CTRCT16, HEL-S-101, HSPB5, MFM2
• Gene name: crystallin alpha B
• Alternate names: alpha-crystallin B chain, epididymis secretory protein Li 101, heat shock protein beta-5, heat-shock 20 kD like-protein, renal carcinoma antigen NY-REN-27, rosenthal fiber component,
• Gene location: 11q23.1 (111923739: 111908563)     Exons: 6     NC_000011.10
• Gene summary(Entrez): 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
• OMIM: 123590

Protein Summary

• Protein general information: P02511  
  • Name: Alpha crystallin B chain (Alpha(B) crystallin) (Heat shock protein beta 5) (HspB5) (Renal carcinoma antigen NY REN 27) (Rosenthal fiber component)
  • Length: 175  
  • Mass: 20159
  • Tissue specificity: Lens as well as other tissues (PubMed
• Sequence:

  MDIAIHHPWIRRPFFPFHSPSRLFDQFFGEHLLESDLFPTSTSLSPFYLRPPSFLRAPSWFDTGLSEMRLEKDRF
  SVNLDVKHFSPEELKVKVLGDVIEVHGKHEERQDEHGFISREFHRKYRIPADVDPLTITSSLSSDGVLTVNGPRK
  QVSGPERTIPITREEKPAVTAAPKK

• Structural information:
  • Protein Domains: (56..16-)
    (/note="sHSP-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00285"-)
  • Interpro: IPR002068  IPR037882  IPR001436  IPR003090  IPR008978  
  • Prosite: PS01031
  • CDD: cd06498
  • PDB: 2KLR 2N0K 2WJ7 2Y1Y 2Y1Z 2Y22 2YGD 3J07 3L1G 3SGM 3SGN 3SGO 3SGP 3SGR 3SGS 4M5S 4M5T 5VVV 6BP9
  • PDBsum: 2KLR 2N0K 2WJ7 2Y1Y 2Y1Z 2Y22 2YGD 3J07 3L1G 3SGM 3SGN 3SGO 3SGP 3SGR 3SGS 4M5S 4M5T 5VVV 6BP9
  • DIP: 35017
  • STRING: ENSP00000433560
• Other Databases: GeneCards:  CRYAB  Malacards:  CRYAB

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1905907	negative regulation of amyloid fibril formation	IDA	biological process
GO:0001540	amyloid-beta binding	IPI	molecular function
GO:0031333	negative regulation of protein-containing complex assembly	IDA	biological process
GO:0044877	protein-containing complex binding	IPI	molecular function
GO:1905907	negative regulation of amyloid fibril formation	TAS	biological process
GO:0043066	negative regulation of apoptotic process	IDA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0032387	negative regulation of intracellular transport	IDA	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005212	structural constituent of eye lens	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005212	structural constituent of eye lens	IEA	molecular function
GO:0006936	muscle contraction	TAS	biological process
GO:0006457	protein folding	NAS	biological process
GO:0071480	cellular response to gamma radiation	IMP	biological process
GO:0010941	regulation of cell death	IMP	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:1900034	regulation of cellular response to heat	TAS	biological process
GO:0005737	cytoplasm	IDA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008092	cytoskeletal protein binding	IEA	molecular function
GO:0008017	microtubule binding	IEA	molecular function
GO:0007568	aging	IEA	biological process
GO:0006457	protein folding	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0060561	apoptotic process involved in morphogenesis	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0043010	camera-type eye development	IEA	biological process
GO:0007517	muscle organ development	IEA	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0002088	lens development in camera-type eye	IEA	biological process
GO:0001666	response to hypoxia	IEA	biological process
GO:0051403	stress-activated MAPK cascade	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0032355	response to estradiol	IEA	biological process
GO:0031674	I band	IEA	cellular component
GO:0031109	microtubule polymerization or depolymerization	IEA	biological process
GO:0030424	axon	IEA	cellular component
GO:0030308	negative regulation of cell growth	IEA	biological process
GO:0015630	microtubule cytoskeleton	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0043292	contractile fiber	IEA	cellular component
GO:0043154	negative regulation of cysteine-type endopeptidase activity involved in apoptotic process	IEA	biological process
GO:0042542	response to hydrogen peroxide	IEA	biological process
GO:0030018	Z disc	IEA	cellular component
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0007021	tubulin complex assembly	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:2000378	negative regulation of reactive oxygen species metabolic process	IEA	biological process
GO:0097512	cardiac myofibril	IEA	cellular component
GO:0097060	synaptic membrane	IEA	cellular component
GO:0045202	synapse	IEA	cellular component
GO:0043204	perikaryon	IEA	cellular component
GO:0043197	dendritic spine	IEA	cellular component
GO:0042542	response to hydrogen peroxide	IEA	biological process
GO:0032432	actin filament bundle	IEA	cellular component
GO:0031430	M band	IEA	cellular component
GO:0014069	postsynaptic density	IEA	cellular component
GO:0010259	multicellular organism aging	IEA	biological process
GO:0009986	cell surface	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0050821	protein stabilization	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0005198	structural molecule activity	IDA	molecular function
GO:0032991	protein-containing complex	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0042802	identical protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0051082	unfolded protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04141	Protein processing in endoplasmic reticulum
hsa04213	Longevity regulating pathway - multiple species

Diseases

Associated diseases	References
Cataract	KEGG:H01202
Myofibrillar myopathies	KEGG:H00595
Cataract	KEGG:H01202
Myofibrillar myopathies	KEGG:H00595
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R