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FLASH GENE

Symbol

CRYBB2

contributors: shn/npt - updated : 22-05-2012

HGNC name	crystallin, beta B2
HGNC id	2398

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
SPECIAL FEATURE	component of a cluster
text	clustered with beta-A4, beta-B1 and beta-B3 (see CRYBalpha)
	oriented head-to-tail with respect to transcription with CRYBB3
STRUCTURE	12.23 kb     6 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

Map	cen - D22S1685 - D22S1174 - CRYBB2 - D22S925 - D22S926 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000496 6 - 781 NP_000487 23 205 - Chamber et al, 1993

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 Reproductive male system testis     moderately Mus musculus Adult Visual eye lens     specific Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Reproductive spermatogonia Mus musculus Adult

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

eye, lens

PROTEIN

PHYSICAL PROPERTIES		basic
STRUCTURE

motifs/domains	an ABAB pattern structural motif, characteristic of the beta-gamma crystallin superfamily
	four beta/gamma crystallin 'greek key' domains linked by a connecting peptide and N- and C-terminal extensions
	16 beta-strands, 8 in the N-terminal domain and 8 in the C-terminal domain

conjugated

Other

mono polymer

homomer , heteromer , dimer , oligo

HOMOLOGY

interspecies	ortholog to crybb2, Danio rerio
	ortholog to Crybb2, Mus musculus
	ortholog to crybb2, Danio rerio

Homologene

FAMILY

beta/gamma-crystallin family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION

basic FUNCTION

contributing to the refractive index and transparency of lens

CELLULAR PROCESS	cell life, proliferation/growth

PHYSIOLOGICAL PROCESS

text	cell shape and cell size control

PATHWAY

metabolism

signaling

sensory transduction/vision

photoreception

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

INTERACTION

DNA

RNA

small molecule

protein

alphaA-, and alphaB- crystallins, and Hsp27 (

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CCA2

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	decreased levels of Camk4 in the testis is a contributing factor to reduced fertility in male Crybb2-/- mice (