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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
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
Physical map
LOC391413 2 similar to Adenosylhomocysteinase (S-adenosyl-L-homocysteine hydrolase) (AdoHcyase) LOC391414 2 similar to high mobility group protein homolog HMG4 POU3F3 3p14.2 POU domain, class 3, transcription factor 3 MRPS9 2q12.1 mitochondrial ribosomal protein S9 GPR45 2q11.2-q12 G protein-coupled receptor 45 TGFBRAP1 2q12.1 transforming growth factor, beta receptor associated protein 1 MGC5509 2q12.2 hypothetical protein MGC5509 FHL2 2q12-q13 four and a half LIM domains 2 NCK2 2q12 NCK adaptor protein 2 ECRG4 2q12.2 esophageal cancer related gene 4 protein UXS1 2q12.1 UDP-glucuronate decarboxylase 1 LOC391415 2 similar to ribosomal protein S21; 40S ribosomal protein S21 LOC391416 2 similar to hypothetical protein MGC4614 LOC389016 2 similar to RAN-binding protein 2-like 1 isoform 1; sperm membrane protein BS-63; RAN-binding protein 2-like 1 LOC391417 2 similar to anaphase-promoting complex 1 (meiotic checkpoint regulator) CD8B2 2q12 CD8 antigen, beta polypeptide 2, pseudogene (p37) LOC389017 2 similar to Elongation factor 1-alpha 1 (EF-1-alpha-1) (Elongation factor 1 A-1) (eEF1A-1) (Elongation factor Tu) (EF-Tu) LOC389018 2 similar to Elongation factor 1-alpha 1 (EF-1-alpha-1) (Elongation factor 1 A-1) (eEF1A-1) (Elongation factor Tu) (EF-Tu) ST6GalII 2q11.2-q12.1 beta-galactoside alpha-2,6-sialyltransferase II LOC339819 2q12.3 similar to protein phosphatase 1, regulatory (inhibitor) subunit 2 DKFZp686P0288 2q12.3 similar to Ran-binding protein 2 SLC5A7 2q12 solute carrier family 5 (choline transporter), member 7 LOC391418 2 similar to phenol sulfotransferase SULT1C1 2q11.1-q11.2 sulfotransferase family, cytosolic, 1C, member 1 LOC391419 2 similar to sulfotransferase 1C SULT1C2 2q11.2 sulfotransferase family, cytosolic, 1C, member 2 GCC2 2q12-q13 GRIP and coiled-coil domain-containing 2 MGC10701 2q12.3 hypothetical protein MGC10701 LIMS1 2q12 LIM and senescent cell antigen-like domains 1
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
4 - 793 17 148 - Yue (2003)
EXPRESSION
Type restricted
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Skeletonappendicular skeletonjointsynovia  
Visualeyeanterior segmentiris  
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectivecartilage  highly
cells
SystemCellPubmedSpeciesStageRna symbol
not specificchondrocyte
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)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein 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