Atlas of Genetics and Cytogenetics in Oncology and Haematology


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EBAG9 (Estrogen receptor-binding fragment-associated antigen 9)

Written2007-04Ahmad Faried, Leri S. Faried
Department of General Surgical Science (Surgery I), Graduate School of Medicine, Gunma University, Maebashi, Japan.

(Note : for Links provided by Atlas : click)

Identity

Alias_symbol (synonym)EB9
RCAS1
Other aliasPDAF
HGNC (Hugo) EBAG9
LocusID (NCBI) 9166
Atlas_Id 40393
Location 8q23.2  [Link to chromosome band 8q23]
Location_base_pair Starts at 109540626 and ends at 109565996 bp from pter ( according to hg19-Feb_2009)  [Mapping EBAG9.png]
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
EBAG9 (8q23.2) / EBAG9 (8q23.2)EBAG9 (8q23.2) / MALAT1 (11q13.1)

DNA/RNA

Description The EBAG9 gene contains 7 exons and 6 introns. It was predicted to span over approximately 24.6 kb of the genomic DNA with mRNA size approximately 1182 bp. The exon 3 was the smallest at 79 bp; the other exons ranged from 92-720 bp. The EBAG9 was isolated from MCF-7, human breast cancer cell library and it has been reported identical with RCAS1 (receptor-binding cancer antigen expressed on SiSo cells) gene from human uterine adenocarcinoma cell line.
Transcription The EBAG9 mRNA is up-regulated by estrogen in MCF-7 cells and its promoter responds to estrogen through the complete palindromic estrogen responsive element (ERE) that was located in the 5'-up stream region of the gene.
Pseudogene One pseudogene located in chromosome 10 associated with RCAS1/EBAG9.

Protein

Description The EBAG9/RCAS1 consists of 213 amino acids (aa) corresponding to a molecular weight of 24.4 kDa. The EBAG9/RCAS1 has an N-terminal trans-membrane segment (8-27 aa) and a coiled-coil structure in the C-terminal portion (179-206 aa), indicating that the EBAG9/RCAS1 is a type II membrane protein able to form oligomers through the coiled-coil structure, which is expressed on the surfaces of human cancer cells.
Expression The EBAG9/RCAS1 mRNA is expressed in ovary, testis, prostate, thymus, muscle, and heart. At the protein level the EBAG9/RCAS1 not detected in normal ovary tissues or any of the other above. Neither mRNA nor protein was detected in small intestine, colon, lymph node or peripheral blood lymphocytes.
Localisation Mainly in the golgi, membrane and cytoplasm of cancer tissues, but its expression is very low or hardly detected in normal tissues.
Function The biological functions of the EBAG9/RCAS1 secreted by non-cancerous tissues remain unknown.
In cancer cells, the EBAG9/RCAS1 is a ligand for a putative receptor present on various human cell lines and normal peripheral lymphocytes such as T-, B- and natural killer (NK)-cells. The expression of this receptor is enhanced by activation of these lymphocytes. The EBAG9/RCAS1 acts to inhibit the growth of receptor-binding cells and induced apoptotic cell death. Over-expression of the EBAG9/RCAS1 is known to inhibit the growth and induced apoptosis of immune cells. As the results, cancer cells might evade immune surveillance by expressing the EBAG9/RCAS1 and inducing the apoptosis of the EBAG9/RCAS1 receptor-positive immune cells.
Homology Mouse and human EBAG9/RCAS1 shows a high degree of homology at the amino acid level (98%). Mouse (Mus musculus) ebag9 gene spans about 30 kb in genomic DNA and consists of 7 exons. Dog (Canis familiaris) EBAG9/RCAS1 also shows highly homologues to human (96,2%) and to mouse (96,7%). For chimpanzee- (Pan troglodytes) 100%, rat- (Rattus norvegicus) 94% and chicken-ebag9 (Gallus gallus) 91%.

Mutations

Germinal Not known in Homo sapiens.
Somatic Not known in Homo sapiens.

Implicated in

Note
  
Entity Immunity
Note During pregnancy, EBAG9/RCAS1 may play a role in the down-regulation of the maternal immune response and may participate in the initiation of the labor. In the healthy women, higher EBAG9/RCAS1 expression was observed in the periovulatory and the secretory menstrual cycle phases than in the proliferation phase. The changes in EBAG9/RCAS1 expression were combined with significant differences in the number of immune cells and their activity. It suggested that EBAG9/RCAS1 endometrial expression may favor the coexistence of active lymphocytes and endometrial cells.
Disease The elevated serum level of EBAG9/RCAS1 reported to be associated with a poor immunological prognosis in HIV-1-infected patients, and also associated with the apoptosis of CD4+ T cells in HIV infection. In addition, the induction and secretion of EBAG9/RCAS1 in HIV-Trans-acting transcriptional activator-stimulated CD4+ T cells and monocytes suggested that EBAG9/RCAS1 may involved in the CD4+ T cell apoptosis observed in HIV-1 infection along with FasL and TRAIL.
  
  
Entity Malignancy.
Disease The EBAG9/RCAS1 reported to be over-expressed in many human cancers. Among them: breast, female-genital, gastrointestinal, blood, lung, pancreas, liver, renal, billiary-tract, hepatic, prostate, thyroid, gall bladder, and brain cancer.
Prognosis The EBAG9/RCAS1 over-expression could be used as a predictor of poor prognosis in malignant diseases.
Oncogenesis The EBAG9/RCAS1 plays a role in the immune escape of cancer cells. The EBAG9/RCAS1 could help cancer cells to survive and avoid immunosurveillance. This gene over-expression might cause progression, invasion and metastasis. The EBAG9 acts as one of the estrogen responsive genes in estrogen receptor-positive tumors and mediate estrogen function. Overall, the EBAG9/RCAS1 has an etiological role in the development and progression of cancer cells.
  

Bibliography

Promoter analysis and chromosomal mapping of human EBAG9 gene.
Ikeda K, Sato M, Tsutsumi O, Tsuchiya F, Tsuneizumi M, Emi M, Imoto I, Inazawa J, Muramatsu M, Inoue S
Biochemical and biophysical research communications. 2000 ; 273 (2) : 654-660.
PMID 10873660
 
RCAS1 induced by HIV-Tat is involved in the apoptosis of HIV-1 infected and uninfected CD4+ T cells.
Minami R, Yamamoto M, Takahama S, Miyamura T, Watanabe H, Suematsu E
Cellular immunology. 2006 ; 243 (1) : 41-47.
PMID 17250817
 
Inhibition of cell growth and induction of apoptotic cell death by the human tumor-associated antigen RCAS1.
Nakashima M, Sonoda K, Watanabe T
Nature medicine. 1999 ; 5 (8) : 938-942.
PMID 10426319
 
Molecular cloning of canine RCAS1 cDNA.
Okamura Y, Ma Z, Khatlani TS, Okuda M, Une S, Nakaichi M, Taura Y
The Journal of veterinary medical science / the Japanese Society of Veterinary Science. 2003 ; 65 (8) : 913-915.
PMID 12951425
 
Tumor-associated antigen 22-1-1 expression in the uterine cervical squamous neoplasias.
Sonoda K, Kaku T, Kamura T, Nakashima M, Watanabe T, Nakano H
Clinical cancer research : an official journal of the American Association for Cancer Research. 1998 ; 4 (6) : 1517-1520.
PMID 9626471
 
Molecular cloning and characterization of mouse EBAG9, homolog of a human cancer associated surface antigen: expression and regulation by estrogen.
Tsuchiya F, Ikeda K, Tsutsumi O, Hiroi H, Momoeda M, Taketani Y, Muramatsu M, Inoue S
Biochemical and biophysical research communications. 2001 ; 284 (1) : 2-10.
PMID 11374862
 
Overrepresentation of the EBAG9 gene at 8q23 associated with early-stage breast cancers.
Tsuneizumi M, Emi M, Nagai H, Harada H, Sakamoto G, Kasumi F, Inoue S, Kazui T, Nakamura Y
Clinical cancer research : an official journal of the American Association for Cancer Research. 2001 ; 7 (11) : 3526-3532.
PMID 11705872
 
Isolation of estrogen-responsive genes with a CpG island library.
Watanabe T, Inoue S, Hiroi H, Orimo A, Kawashima H, Muramatsu M
Molecular and cellular biology. 1998 ; 18 (1) : 442-449.
PMID 9418891
 
Cycle dependent RCAS1 expression with respect to the immune cells presence and activity.
Wicherek L, Klimek M, Galazka K, Obrzut B
Neuro endocrinology letters. 2006 ; 27 (5) : 645-650.
PMID 17159823
 

Citation

This paper should be referenced as such :
Faried, Ahmad ; Faried, Leri S
EBAG9 (Estrogen receptor-binding fragment-associated antigen 9)
Atlas Genet Cytogenet Oncol Haematol. 2007;11(4):268-269.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/EBAG9ID40393ch8q23.html


External links

Nomenclature
HGNC (Hugo)EBAG9   3123
Cards
AtlasEBAG9ID40393ch8q23
Entrez_Gene (NCBI)EBAG9  9166  estrogen receptor binding site associated, antigen, 9
AliasesEB9; PDAF
GeneCards (Weizmann)EBAG9
Ensembl hg19 (Hinxton)ENSG00000147654 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000147654 [Gene_View]  chr8:109540626-109565996 [Contig_View]  EBAG9 [Vega]
ICGC DataPortalENSG00000147654
TCGA cBioPortalEBAG9
AceView (NCBI)EBAG9
Genatlas (Paris)EBAG9
WikiGenes9166
SOURCE (Princeton)EBAG9
Genetics Home Reference (NIH)EBAG9
Genomic and cartography
GoldenPath hg38 (UCSC)EBAG9  -     chr8:109540626-109565996 +  8q23.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)EBAG9  -     8q23.2   [Description]    (hg19-Feb_2009)
EnsemblEBAG9 - 8q23.2 [CytoView hg19]  EBAG9 - 8q23.2 [CytoView hg38]
Mapping of homologs : NCBIEBAG9 [Mapview hg19]  EBAG9 [Mapview hg38]
OMIM605772   
Gene and transcription
Genbank (Entrez)AA812215 AB007619 AF006265 AI619447 AK290651
RefSeq transcript (Entrez)NM_001278938 NM_004215 NM_198120
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)EBAG9
Cluster EST : UnigeneHs.632960 [ NCBI ]
CGAP (NCI)Hs.632960
Alternative Splicing GalleryENSG00000147654
Gene ExpressionEBAG9 [ NCBI-GEO ]   EBAG9 [ EBI - ARRAY_EXPRESS ]   EBAG9 [ SEEK ]   EBAG9 [ MEM ]
Gene Expression Viewer (FireBrowse)EBAG9 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9166
GTEX Portal (Tissue expression)EBAG9
Human Protein AtlasENSG00000147654-EBAG9 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO00559   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO00559  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO00559
Splice isoforms : SwissVarO00559
PhosPhoSitePlusO00559
Domains : Interpro (EBI)Cancer-assoc_antigen_RCAS1   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)EBAG9
DMDM Disease mutations9166
Blocks (Seattle)EBAG9
SuperfamilyO00559
Human Protein Atlas [tissue]ENSG00000147654-EBAG9 [tissue]
Peptide AtlasO00559
HPRD05775
IPIIPI00299076   IPI00983699   IPI00983587   IPI00980693   IPI00984370   IPI00477518   
Protein Interaction databases
DIP (DOE-UCLA)O00559
IntAct (EBI)O00559
FunCoupENSG00000147654
BioGRIDEBAG9
STRING (EMBL)EBAG9
ZODIACEBAG9
Ontologies - Pathways
QuickGOO00559
Ontology : AmiGOGolgi membrane  regulation of cell growth  apoptotic process  integral component of membrane  peptidase activator activity involved in apoptotic process  secretory granule  
Ontology : EGO-EBIGolgi membrane  regulation of cell growth  apoptotic process  integral component of membrane  peptidase activator activity involved in apoptotic process  secretory granule  
NDEx NetworkEBAG9
Atlas of Cancer Signalling NetworkEBAG9
Wikipedia pathwaysEBAG9
Orthology - Evolution
OrthoDB9166
GeneTree (enSembl)ENSG00000147654
Phylogenetic Trees/Animal Genes : TreeFamEBAG9
HOVERGENO00559
HOGENOMO00559
Homologs : HomoloGeneEBAG9
Homology/Alignments : Family Browser (UCSC)EBAG9
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerEBAG9 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)EBAG9
dbVarEBAG9
ClinVarEBAG9
1000_GenomesEBAG9 
Exome Variant ServerEBAG9
ExAC (Exome Aggregation Consortium)ENSG00000147654
GNOMAD BrowserENSG00000147654
Genetic variants : HAPMAP9166
Genomic Variants (DGV)EBAG9 [DGVbeta]
DECIPHEREBAG9 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisEBAG9 
Mutations
ICGC Data PortalEBAG9 
TCGA Data PortalEBAG9 
Broad Tumor PortalEBAG9
OASIS PortalEBAG9 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICEBAG9  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDEBAG9
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch EBAG9
DgiDB (Drug Gene Interaction Database)EBAG9
DoCM (Curated mutations)EBAG9 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)EBAG9 (select a term)
intoGenEBAG9
NCG5 (London)EBAG9
Cancer3DEBAG9(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605772   
Orphanet
MedgenEBAG9
Genetic Testing Registry EBAG9
NextProtO00559 [Medical]
TSGene9166
GENETestsEBAG9
Target ValidationEBAG9
Huge Navigator EBAG9 [HugePedia]
snp3D : Map Gene to Disease9166
BioCentury BCIQEBAG9
ClinGenEBAG9
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9166
Chemical/Pharm GKB GenePA27581
Clinical trialEBAG9
Miscellaneous
canSAR (ICR)EBAG9 (select the gene name)
Probes
Litterature
PubMed85 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineEBAG9
EVEXEBAG9
GoPubMedEBAG9
iHOPEBAG9
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Oct 12 16:20:52 CEST 2017

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