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FLASH GENE

Symbol

CRYGB

contributors: mct - updated : 26-10-2018

HGNC name	crystallin, gamma B
HGNC id	2409

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ADCC4 congenital cataract, zonular central nuclear 4
Location	2q33.3      Physical location : 209.007.297 - 209.010.877

DNA

TYPE	functioning gene
SPECIAL FEATURE	arranged in tandem, component of a cluster
text	four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster
STRUCTURE	3.75 kb     3 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

text	three isoforms (Van Dummen)

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005210 3 - 643 NP_005201 - 175 - 2012 23288985

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

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	fetal eye, lens

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	an ABAB pattern,structural motif characteristic of the beta-gamma crystallin superfamily
	a two-domain beta-structure folded into four very similar greek key motifs

HOMOLOGY

interspecies	ortholog to murine Crygb
	homolog to C.elegans F26A3.2

Homologene

FAMILY	crystallin superfamily
	beta/gamma-crystallin family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus

basic FUNCTION	contributing to the refractive index and transparency of lens
	effects of synonymous codon choice on the translation of CRYGB mRNAs shows that codon bias alters local and global translation rates and results in the formation of alternative conformations of the nascent protein on the ribosome and in solution after the release of the completed protein

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ADCC4

Susceptibility

to childhood cataract

Variant & Polymorphism	-47C allele of rs2289917 in CRYGB showed the strongest association with cataract

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS