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FLASH GENE

Symbol

CRYAB

contributors: mct/shn - updated : 02-10-2012

HGNC name	crystallin, alpha B
HGNC id	2389

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CMD1II cardiomyopathy, dilated, 1II CPP2 cataract posterior, polar congenital 2 DRM desmin related myopathy with cataract MMFIH myopathy, myofibrillar, fatal infantile hypertrophy, alpha-B crystallin-related
Location	11q23.1      Physical location : 111.779.349 - 111.782.473
Synonym name	heat-shock 20KD like-protein
	NY-REN-27 antigen
	Rosenthal fiber component
	renal carcinoma antigen NY-REN-27
	heat shock protein beta-5
	alpha(B)-crystallin
	alpha B crystallin
	alpha crystallin B chain
	alpha-crystallin B chain
	renal carcinoma antigen NY-REN-27
Synonym symbol(s)	CRYA2, CTPP2, CRAB, HSPB5

DNA

TYPE	functioning gene
STRUCTURE	3.12 kb     3 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

Map	cen - D11S1893 - D11S1793 - CRYAB - D11S4192 - D11S1347 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001885 3 - 691 NP_001876 - 175 - -

EXPRESSION

Type

widely

constitutive of

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Endocrine thyroid       moderately Hearing/Equilibrium ear inner cochlea   moderately Nervous nerve cranial nerve     moderately Reproductive female system breast mammary gland   moderately Respiratory respiratory tract larynx     moderately Visual eye lens     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose     moderately Epithelial       lowly Muscular striatum cardiac   highly Muscular striatum skeletal   highly

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	fetal eye, lens, umblilical cord

PROTEIN

PHYSICAL PROPERTIES		basic
STRUCTURE

motifs/domains	N-terminal domain involved in multiple interactions that enable the formation of various oligomers and binding to denatured proteins, thereby enabling chaperone-like activities, and the hydrophobic region (AAs 41–58) of the N-terminal domain is involved in the recognition of denatured protein
	a C-ter with the alpha cristallin domain responsible for chaperone function, undergoing many post-translational modifications, noteworthy phosphorylation and cleavage

mono polymer

heteromer , aggregate , complex

HOMOLOGY

interspecies	ortholog to Cryab, Rattus norvegicus
	ortholog to Cryab, Mus musculus
	ortholog to CRYAB, Pan troglodytes
	ortholog to cryaba, Danio rerio

intraspecies

homolog to CRYAA

Homologene

FAMILY	alpha crystallin superfamily
	small heat shock protein (sHSP or HSP20) subfamily

CATEGORY

chaperone/stress , motor/contractile

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus

basic FUNCTION	contributing to the refractive index and transparency of lens
	preventing the aggregation of the crystallins and proteins
	having chaperone-like activity
	involvend in maintenance of cytoskeletal network in muscle

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

sensory transduction/vision

photoreception

a component

complexing with CRYAA (ratio AA3/AB1) (30-40 subunits, 600-800 kDa)

INTERACTION

DNA

RNA

small molecule

protein	CRYAA and HSP28 with PSMA7
	proteasomal subunit C8/alpha7 (
	citrate synthase (
	betaB2- or gammaC-crystallins (
	TITIN, TTN (
	Bax and Bcl-X(S) (
	Alzheimer's disease beta-amyloid peptide (
	histone deacetylase inhibitor, HDACI (
	LBH

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DRM , CPP2 , CMD1II , MMFIH

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function       --over   in Alexander disease

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Cryab-/- mice showed worse experimental autoimmune encephalomyelitis at the acute and progressive phases, with higher Th1 and Th17 cytokine secretion from T cells and macrophages, and more intense central nervous system inflammation (
	AxD mouse models that loss of Cryab results in increased mortality (