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FLASH GENE

Symbol

ECRG4

contributors: mct/npt - updated : 10-03-2010

HGNC name	chromosome 2 open reading frame 40
HGNC id	24642

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	2q12.2      Physical location : -
Genatlas name	esophageal cancer related gene 4 protein
Synonym name	augurin
Synonym symbol(s)	C2orf40

DNA

TYPE	functioning gene
STRUCTURE	12.50 kb     4 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	cytosine-phosphate-guanine/HTF
text structure	16 CpG sites in the core promoter region (Yue 2003)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_032411 4 - 793 NP_115787 17 148 - Yue (2003)

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 Skeleton appendicular skeleton joint synovia     Visual eye anterior segment iris

tissue

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

cells

System Cell Pubmed Species Stage Rna symbol not specific chondrocyte

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text	eye, anterior segment
	expression in proliferating chondrocytes but not hypertrophic chondrocytes in the developing cartilage (Huh 2009)

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

HOMOLOGY

interspecies

ortholog to murine 1500015O10Rik

Homologene

FAMILY

augurin family

CATEGORY

transcription factor , tumor suppressor

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,cytosolic,vesicle
text	secreted protein that undergoes cleavage after secretion (Huh 2009)

basic FUNCTION	may be involved in the carcinogenesis of esophageal cancer
	silenced via promoter hypermethylation in different types of cancer and may act as inhibitor of cell proliferation in colorectal carcinoma cells, playing a role as extracellular signaling molecule (Gotze 2009)
	having function as a marker of differentiated articular chondrocytes and cartilage destruction (Huh 2009)
	marker of differentiated articular chondrocyte and cartilage destruction, with a capacity to inhibit proliferation of differentiated chondrocytes (Huh 2009)
	chondrocyte-specific gene involved in cartilage development and destruction (Huh 2009)
	plays a role in catabolic regulation by ECM reorganization or affects synovial fluids in joint cartilage or adjacent tissues, such as bone and synovial tissue (Huh 2009)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   by CpG island hypermethylation in esophageal squamous cell carcinoma (Yue 2003) constitutional     --low   during chondrocyte dedifferentiation and cartilage destruction (Huh 2009)

Susceptibility

Variant & Polymorphism

Candidate gene	candidate tumor suppressor gene in ESCC (esophageal squamous cell carcinoma), and is a candidate prognostic marker for ESCC (Li 2009)
	marker of differentiated articular chondrocyte and cartilage destruction, with a capacity to inhibit proliferation of differentiated chondrocytes (Huh 2009)
Marker
Therapy target

ANIMAL & CELL MODELS