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FLASH GENE

Symbol

CRYBA4

contributors: mct - updated : 09-04-2019

HGNC name	crystallin, beta A4
HGNC id	2396

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CATM2 cataract with associated microphthalmia 2
Location	22q12.1      Physical location : 27.017.927 - 27.026.635
Synonym name	beta crystallin A4 chain transcript PS
	crystallin, beta polypeptide A4
	eye lens structural protein
Synonym symbol(s)	CTA-445C9.1, CTRCT23, CYRBA4, MCOPCT4

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
text	clustered with beta-B1, beta-B2 and beta-B3
STRUCTURE	22.70 kb     6 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001886 6 - 828 NP_001877 - 196 - 2015 25910212

EXPRESSION

Type	restricted

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       Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	fetal eye, lens

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

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

conjugated

Other

mono polymer

homomer , heteromer , dimer , complex

HOMOLOGY

interspecies	ortholog to murine Cryba4
	homolog to C.elegans Y47D3B.4

Homologene

FAMILY

crystallin superfamily, beta acidic group member

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION

basic FUNCTION	contributing to the refractive index and transparency of lens
	lens crystallin genes, CRYBA4 and CRYBB1, can be simultaneously transcribed from adjacent bidirectional promoters and do not show nuclear accumulation

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

sensory transduction/vision

photoreception

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

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CATM2

Susceptibility

to high myopia

Variant & Polymorphism other	rs2009066, was previously reported to be associated with high myopia in a southern Chinese population

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS