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FLASH GENE

Symbol

CRYBB3

contributors: mct - updated : 26-10-2018

HGNC name	crystallin, beta B3
HGNC id	2400

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ARCC6 congenital cataract, autosomal recessive 6
Location	22q11.23      Physical location : 25.595.824 - 25.603.324
Synonym name	eye lens structural protein
Synonym symbol(s)	CATCN2, CRYB3, MGC125772, MGC125773, MGC125774

DNA

TYPE	functioning gene
SPECIAL FEATURE	arranged in tandem, component of a cluster
text	clustered with beta-A4,beta-B1 and beta-B2 (see CRYB@)
	oriented head-to-tail with respect to transcription with CRYBB2
STRUCTURE	13.37 kb     6 Exon(s)    2 Copie(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

regionally located

separated from CRYBB2 by 20 kb in the human

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004076 6 - 896 NP_004067 24 211 - 1997 8999933

EXPRESSION

Type

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 Visual eye lens     predominantly Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier lining corneal epithelium     Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two ABAB pattern, structural motif characterisitc of the beta-gamma crystallin superfamily
	four greek key motifs

mono polymer

homomer , heteromer , dimer , complex

HOMOLOGY

interspecies	ortholog to murine Crybb3
	homolog to C.elegans Y71H2AM.J

Homologene

FAMILY	crystallin superfamily
	beta/gamma-crystallin family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION

basic FUNCTION	contributing to the refractive index and transparency of lens
	is one of 11 major soluble proteins in the young human lens

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

sensory transduction/vision

photoreception

a component	homo/heterodimer or complexes of higher order
	structure of the beta-crystallin oligomers stabilized through interactions between the N-terminal arms
	being the dominant structural components of the vertebrate eye lens

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ARCC6

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional germinal mutation       G165R in 2 pakistani families with autosomal recessive congenital nuclear cataract (Riazuddin,05)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS