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FLASH GENE

Symbol

CRYBA2

contributors: mct - updated : 26-10-2018

HGNC name	crystallin, beta A2
HGNC id	2395

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ADCC6 congenital cataract, zonular central nuclear 6
Location	2q35      Physical location : 219.854.911 - 219.858.127
Synonym name	eye lens structural protein
Synonym symbol(s)	ELSP

DNA

TYPE	functioning gene
STRUCTURE	3.22 kb     5 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

text	three alternatively spliced transcript variants encoding identical proteins

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed variant 1 - splicing 700 22 197 - Hulsebos NM_057093 2 splicing 903 NP_476434 22 197 - Hulsebos NM_057094 5 splicing 709 NP_476435 22 197 - Hulsebos

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

eye, lens

PROTEIN

PHYSICAL PROPERTIES		acid
STRUCTURE

motifs/domains	an ABAB pattern, structural motif characteristic of the beta-gamma crystallin superfamily
	greek key motifs

mono polymer

homomer , heteromer , dimer , aggregate

HOMOLOGY

interspecies	ortholog to murine Cryba2
	homolog to C.elegans F40G9.8

Homologene

FAMILY	crystallin superfamily
	beta/gamma cristallin family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm

basic FUNCTION

contributing to the refractive index and transparency of lens

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

dominant structural components of the vertebrate eye lens

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

ADCC6

Susceptibility

Variant & Polymorphism

Candidate gene	strong candidate gene for age-related cataracts, and the slightly smaller size of the lens might be recognized as an early biomarker for age-related cataracts
Marker
Therapy target

ANIMAL & CELL MODELS