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FLASH GENE

Symbol

GC

contributors: mct - updated : 22-01-2020

HGNC name	group-specific component (vitamin D binding protein)
HGNC id	4187

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	63.83 kb     13 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

Y

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000583 13 - 1685 NP_000574 51.2 474 - 1992 1352271 NM_001204306 14 - 1895 NP_001191235 - 474 - 1992 1352271 NM_001204307 14 - 1832 NP_001191236 - 493 - 1992 1352271

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 anterior segment cornea

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / Hematopoietic

cell lineage
cell lines
fluid/secretion	plasma, cerebro spinal fluid, urine, ascitic fluid

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

three albumin domains

conjugated

GlycoP

HOMOLOGY

interspecies	ortholog to murine Gc
	homolog to C.elegans ZC482.5

Homologene

FAMILY	albumin family (ALB/AFP/VDB)
	glycosyl hydrolase 30 family

CATEGORY

enzyme , transport carrier

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,lumen
	intracellular,cytoplasm,organelle,lysosome
	intracellular,cytoplasm,cytosolic
text	secreted

basic FUNCTION	transporting vitamin D and its plasma metabolites to target tissues
	VDR, NADSYN1, and GC polymorphisms may be linked to the manifestation of vitamin D deficiency in Japanese children
	may play an important role in the progression of endometriosis
	is the primary carrier of vitamin D in the circulation and regulates the bioavailability of 25-hydroxyvitamin D
	controls T cell responses to vitamin D

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	vitamin/cofactor transport

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

binding to vitamin D and actin monomer

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   significantly increased in the ectopic endometrial tissue compared with that in the normal endometrial tissue constitutional     --low   is confirmed and marked in multivessel disease patients

Susceptibility

to obstructive sleep apnea syndrome (OSAS) to epilepsy to Parkinson disease(PD) to inflammatory bowel diseases (IBDs)

Variant & Polymorphism other	VDBP mutations were found highly related with OSAS
	polymorphisms of GC rs4588 and rs2282679 may play a potentially important role in epilepsy susceptibility in Chinese Han population
	rs7041 of GC is associated with the PD risk
	GC concentrations are inversely associated with hyperinsulinemia and insulin resistance
	haplotype DBP_2, consisting of 416 Asp and 420 Lys, was more frequent in the non-IBD population

Candidate gene
Marker	high plasma GC predicts lower incidence of gastrointestinal and ear infections in school-age children independent of 25(OH)D
	higher (versus lower) circulating GC may be independently associated with a decreased prostate cancer risk in black men independent of 25(OH)D status
	could be an autoantigen in T1 Diabetes
	GC gene polymorphism could be a potential marker for screening of chronic obstructive pulmonary disease (COPD)
	urinary GC may be a novel urinary biomarker of tubulointerstitial damage
Therapy target

ANIMAL & CELL MODELS