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FLASH GENE

Symbol

CRYGC

contributors: shn - updated : 02-10-2011

HGNC name	crystallin, gamma C
HGNC id	2410

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CCL Coppock-like cataract
Location	2q34      Physical location : 208.992.862 - 208.994.554
Synonym name	gamma crystallin 3
	crystallin, gamma-3
	gamma crystallin 2-1
	gamma-C-crystallin
	gamma-crystallin C
Synonym symbol(s)	CCL, CRYG3

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	1.69 kb     3 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

status

confirmed

Map	cen - D2S2208 - D2S154 - CRYGC - D2S2178 - D2S2274 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_020989 3 - 645 NP_066269 - 174 - -

EXPRESSION

Type	restricted

constitutive of

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 female system placenta     lowly   male system testis     lowly Visual eye lens     highly

tissue

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

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 characterisitc of the beta-gamma crystallin superfamily
	a two-domain beta-structure folded into four very similar greek key motifs

mono polymer

monomer

HOMOLOGY

interspecies	ortholog to CRYGC, Pan troglodytes
	ortholog to Crygc, Rattus norvegicus
	ortholog to Crygc, Mus musculus

Homologene

FAMILY	crystallin superfamily
	beta/gamma-crystallin family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION

basic FUNCTION

contributing to the refractive index and transparency of lens

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

sensory transduction/vision

a component

structural components of the eye lens

INTERACTION

DNA

RNA

small molecule

protein

alphaB-crystallin and alphaA-crystallin (

cell & other

REGULATION

Other

oxidative modification by glutathiolation can render CRYGC protein more susceptible to degradation by the ubiquitin proteasome pathway

ASSOCIATED DISORDERS

corresponding disease(s)

CCL

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional somatic mutation       involved in cataract due to aging or mutations in specific genes

Susceptibility

to cataract

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS