Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

FXYD5 (FXYD domain containing ion transport regulator 5)

Written2008-07Setsuo Hirohashi
Pathology Division, National Cancer Center Research Institute 5-1-1, Tsukiji, Chuo-ku, Tokyo 104-0045, Japan

(Note : for Links provided by Atlas : click)

Identity

Alias_namesFXYD domain-containing ion transport regulator 5
Alias_symbol (synonym)OIT2
HGNC (Hugo) FXYD5
LocusID (NCBI) 53827
Atlas_Id 40652
Location 19q13.12  [Link to chromosome band 19q13]
Location_base_pair Starts at 35645845 and ends at 35660788 bp from pter ( according to hg19-Feb_2009)  [Mapping FXYD5.png]
Fusion genes
(updated 2016)
FXYD5 (19q13.12) / TSKU (11q13.5)GLMN (1p22.1) / FXYD5 (19q13.12)SFPQ (16q24.1) / FXYD5 (19q13.12)
TGFB1 (19q13.2) / FXYD5 (19q13.12)

DNA/RNA

Transcription 0.9 kb mRNA; 534 bp open reading frame.

Protein

 
  Dysadherin protein consists of 178 amino acids.
Description The deduced amino acid sequence consisted of two hydrophobic regions corresponding to a signal peptide and a transmembrane domain (146-162), a serine-, threonine-, and proline-rich extracellular domain, which is a target for O-glycosylation, anda short cytoplasmic region containing positively charged amino acid residues.
Expression Endothelial cell, T lymphocytes, basal cell of squamous epithelium.
Localisation Cell membrane
Homology The transmembrane domain of dysadherin and mouse RIC especially showed a very high degree of similarity to other ion channels such as Mat-8 chloride channel, phospholemman, which is the major plasma membrane substrate for cAMPdependent protein kinase and protein kinase C, and the subunit of Na, K-ATPase.

Implicated in

Note
Entity Various cancers
Disease Dysadherin, newly identified cell membrane glycoprotein, downregulates E-cadherin and promotes cancer invasion and metastasis. A reverse correlation between dysadherin expression and E-cadherin expression was observed in various cancers. Increased dysadherin expression was correlated with poor prognosis with head and neck squamous cell carcinoma, esophageal carcinoma, gastric carcinoma, colorectal carcinoma, melanoma and so on. Dysadherin expression in epitheloid sarcomas could be a used as powerful diagnostic marker for distinguishing epithelioid sarcomas from malignant rabdoid tumors.
  

Bibliography

Prognostic significance of dysadherin expression in advanced colorectal carcinoma.
Aoki S, Shimamura T, Shibata T, Nakanishi Y, Moriya Y, Sato Y, Kitajima M, Sakamoto M, Hirohashi S.
Br J Cancer. 2003; 88(5): 726-32.
PMID 12618882
 
In breast carcinoma dysadherin expression is correlated with invasiveness but not with E-cadherin.
Batistatou A, Peschos D, Tsanou H, Charalabopoulos A, Nakanishi Y, Hirohashi S, Agnantis NJ, Charalabopoulos K.
Br J Cancer. 2007; 96(9): 1404-8.
PMID 17437014
 
Nuclear targeting of the growth hormone receptor results in dysregulation of cell proliferation and tumorigenesis.
Conway-Campbell BL, Wooh JW, Brooks AJ, Gordon D, Brown RJ, Lichanska AM, Chin HS, Barton CL, Boyle GM, Parsons PG, Jans DA, Waters MJ.
Proc Natl Acad Sci U S A. 2007; 104(33): 13331-6.
PMID 17690250
 
Cell adhesion system and human cancer morphogenesis.
Hirohashi S, Kanai Y.
Cancer Sci. 2003; 94(7): 575-81. (Review)
PMID 12841864
 
Dysadherin, a cancer-associated cell membrane glycoprotein, down-regulates E-cadherin and promotes metastasis.
Ino Y, Gotoh M, Sakamoto M, Tsukagoshi K, Hirohashi S.
Proc Natl Acad Sci USA. 2002; 99(1): 365-70.
PMID 11756660
 
Dysadherin expression as a significant prognostic factor and as a determinant of histologic features in synovial sarcoma: special reference to its inverse relationship with E-cadherin expression.
Izumi T, Oda Y, Hasegawa T, Nakanishi Y, Kawai A, Sonobe H, Takahira T, Kobayashi C, Yamamoto H, Tamiya S, Hirohashi S, Iwamoto Y, Tsuneyoshi M.
Am J Surg Pathol. 2007; 31(1): 85-94.
PMID 17197923
 
Dysadherin expression in head and neck squamous cell carcinoma: association with lymphangiogenesis and prognostic significance.
Kyzas PA, Stefanou D, Batistatou A, Agnantis NJ, Nakanishi Y, Hirohashi S, Charalabopoulos K.
Am J Surg Pathol. 2006; 30(2): 185-93.
PMID 16434892
 
Prognostic significance of dysadherin expression in tongue cancer: immunohistochemical analysis of 91 cases.
Nakanishi Y, Akimoto S, Sato Y, Kanai Y, Sakamoto M, Hirohashi S.
Appl Immunohistochem Mol Morphol. 2004; 12(4): 323-8.
PMID 15536331
 
Dysadherin: a new player in cancer progression.
Nam JS, Hirohashi S, Wakefield LM.
Cancer Lett. 2007; 255(2): 161-9. (Review)
PMID 17442482
 
Chemokine (C-C motif) ligand 2 mediates the prometastatic effect of dysadherin in human breast cancer cells.
Nam JS, Kang MJ, Suchar AM, Shimamura T, Kohn EA, Michalowska AM, Jordan VC, Hirohashi S, Wakefield LM.
Cancer Res. 2006; 66(14): 7176-84.
PMID 16849564
 
Clinicopathologic significance of dysadherin expression in cutaneous malignant melanoma: immunohistochemical analysis of 115 patients.
Nishizawa A, Nakanishi Y, Yoshimura K, Sasajima Y, Yamazaki N, Yamamoto A, Hanada K, Kanai Y, Hirohashi S.
Cancer. 2005; 103(8): 1693-700.
PMID 15751018
 
Dysadherin: expression and clinical significance in thyroid carcinoma.
Sato H, Ino Y, Miura A, Abe Y, Sakai H, Ito K, Hirohashi S.
J Clin Endocrinol Metab. 2003; 88(9): 4407-12.
PMID 12970317
 
Prognostic significance of dysadherin expression in esophageal squamous cell carcinoma.
Shimada Y, Hashimoto Y, Kan T, Kawamura J, Okumura T, Soma T, Kondo K, Teratani N, Watanabe G, Ino Y, Sakamoto M, Hirohashi S, Imamura M.
Oncology. 2004; 67(1): 73-80.
PMID 15459499
 
Clinical significance of dysadherin expression in gastric cancer patients.
Shimada Y, Yamasaki S, Hashimoto Y, Ito T, Kawamura J, Soma T, Ino Y, Nakanishi Y, Sakamoto M, Hirohashi S, Imamura M.
Clin Cancer Res. 2004; 10(8): 2818-23.
PMID 15102690
 
Dysadherin expression facilitates cell motility and metastatic potential of human pancreatic cancer cells.
Shimamura T, Yasuda J, Ino Y, Gotoh M, Tsuchiya A, Nakajima A, Sakamoto M, Kanai Y, Hirohashi S.
Cancer Res. 2004; 64(19): 6989-95.
PMID 15466191
 
Prognostic significance of dysadherin expression in patients with non-small cell lung cancer.
Tamura M, Ohta Y, Tsunezuka Y, Matsumoto I, Kawakami K, Oda M, Watanabe G.
J Thorac Cardiovasc Surg. 2005; 130(3): 740-5.
PMID 16153922
 
Aberrant O-glycosylation inhibits stable expression of dysadherin, a carcinoma-associated antigen, and facilitates cell-cell adhesion.
Tsuiji H, Takasaki S, Sakamoto M, Irimura T, Hirohashi S.
Glycobiology. 2003; 13(7): 521-7.
PMID 12672699
 
Prognostic significance of dysadherin expression in cervical squamous cell carcinoma.
Wu D, Qiao Y, Kristensen GB, Li S, Troen G, Holm R, Nesland JM, Suo Z.
Pathol Oncol Res. 2004; 10(4): 212-8.
PMID 15619642
 
Establishment of two cell lines from human gastric scirrhous carcinoma that possess the potential to metastasize spontaneously in nude mice.
Yanagihara K, Tanaka H, Takigahira M, Ino Y, Yamaguchi Y, Toge T, Sugano K, Hirohashi S.
Cancer Sci. 2004; 95(7): 575-82.
PMID 15245593
 

Citation

This paper should be referenced as such :
Hirohashi, S
FXYD5 (FXYD domain containing ion transport regulator 5)
Atlas Genet Cytogenet Oncol Haematol. 2009;13(6):413-414.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/FXYD5ID40652ch19q13.html


External links

Nomenclature
HGNC (Hugo)FXYD5   4029
Cards
AtlasFXYD5ID40652ch19q13
Entrez_Gene (NCBI)FXYD5  53827  FXYD domain containing ion transport regulator 5
AliasesDYSAD; HSPC113; IWU1; KCT1; 
OIT2; PRO6241; RIC
GeneCards (Weizmann)FXYD5
Ensembl hg19 (Hinxton)ENSG00000089327 [Gene_View]  chr19:35645845-35660788 [Contig_View]  FXYD5 [Vega]
Ensembl hg38 (Hinxton)ENSG00000089327 [Gene_View]  chr19:35645845-35660788 [Contig_View]  FXYD5 [Vega]
ICGC DataPortalENSG00000089327
TCGA cBioPortalFXYD5
AceView (NCBI)FXYD5
Genatlas (Paris)FXYD5
WikiGenes53827
SOURCE (Princeton)FXYD5
Genetics Home Reference (NIH)FXYD5
Genomic and cartography
GoldenPath hg19 (UCSC)FXYD5  -     chr19:35645845-35660788 +  19q13.12   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)FXYD5  -     19q13.12   [Description]    (hg38-Dec_2013)
EnsemblFXYD5 - 19q13.12 [CytoView hg19]  FXYD5 - 19q13.12 [CytoView hg38]
Mapping of homologs : NCBIFXYD5 [Mapview hg19]  FXYD5 [Mapview hg38]
OMIM606669   
Gene and transcription
Genbank (Entrez)AA044211 AA296696 AB072911 AF161462 AF177940
RefSeq transcript (Entrez)NM_001164605 NM_001320912 NM_001320913 NM_014164 NM_144779
RefSeq genomic (Entrez)NC_000019 NC_018930 NT_011109 NW_004929415
Consensus coding sequences : CCDS (NCBI)FXYD5
Cluster EST : UnigeneHs.333418 [ NCBI ]
CGAP (NCI)Hs.333418
Alternative Splicing GalleryENSG00000089327
Gene ExpressionFXYD5 [ NCBI-GEO ]   FXYD5 [ EBI - ARRAY_EXPRESS ]   FXYD5 [ SEEK ]   FXYD5 [ MEM ]
Gene Expression Viewer (FireBrowse)FXYD5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)53827
GTEX Portal (Tissue expression)FXYD5
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96DB9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96DB9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96DB9
Splice isoforms : SwissVarQ96DB9
PhosPhoSitePlusQ96DB9
Domaine pattern : Prosite (Expaxy)FXYD (PS01310)   
Domains : Interpro (EBI)Ion-transport_regulator_FXYD   
Domain families : Pfam (Sanger)ATP1G1_PLM_MAT8 (PF02038)   
Domain families : Pfam (NCBI)pfam02038   
Domain structure : Prodom (Prabi Lyon)PD005989 (PD005989)   
Conserved Domain (NCBI)FXYD5
DMDM Disease mutations53827
Blocks (Seattle)FXYD5
SuperfamilyQ96DB9
Human Protein AtlasENSG00000089327
Peptide AtlasQ96DB9
HPRD09448
IPIIPI00419588   IPI00220419   IPI00909621   IPI00789942   
Protein Interaction databases
DIP (DOE-UCLA)Q96DB9
IntAct (EBI)Q96DB9
FunCoupENSG00000089327
BioGRIDFXYD5
STRING (EMBL)FXYD5
ZODIACFXYD5
Ontologies - Pathways
QuickGOQ96DB9
Ontology : AmiGOactin binding  ion channel activity  integral component of plasma membrane  integral component of membrane  sodium channel regulator activity  microvillus assembly  ion transmembrane transport  cadherin binding  negative regulation of calcium-dependent cell-cell adhesion  regulation of sodium ion transmembrane transporter activity  
Ontology : EGO-EBIactin binding  ion channel activity  integral component of plasma membrane  integral component of membrane  sodium channel regulator activity  microvillus assembly  ion transmembrane transport  cadherin binding  negative regulation of calcium-dependent cell-cell adhesion  regulation of sodium ion transmembrane transporter activity  
NDEx NetworkFXYD5
Atlas of Cancer Signalling NetworkFXYD5
Wikipedia pathwaysFXYD5
Orthology - Evolution
OrthoDB53827
GeneTree (enSembl)ENSG00000089327
Phylogenetic Trees/Animal Genes : TreeFamFXYD5
HOVERGENQ96DB9
HOGENOMQ96DB9
Homologs : HomoloGeneFXYD5
Homology/Alignments : Family Browser (UCSC)FXYD5
Gene fusions - Rearrangements
Fusion : MitelmanTGFB1/FXYD5 [19q13.2/19q13.12]  [t(19;19)(q13;q13)]  
Fusion: TCGATGFB1 19q13.2 FXYD5 19q13.12 BLCA
Fusion Cancer (Beijing)SFPQ [16q24.1]  -  FXYD5 [19q13.12]  [FUSC002256]  [FUSC002256]  [FUSC002256]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerFXYD5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)FXYD5
dbVarFXYD5
ClinVarFXYD5
1000_GenomesFXYD5 
Exome Variant ServerFXYD5
ExAC (Exome Aggregation Consortium)FXYD5 (select the gene name)
Genetic variants : HAPMAP53827
Genomic Variants (DGV)FXYD5 [DGVbeta]
DECIPHER (Syndromes)19:35645845-35660788  ENSG00000089327
CONAN: Copy Number AnalysisFXYD5 
Mutations
ICGC Data PortalFXYD5 
TCGA Data PortalFXYD5 
Broad Tumor PortalFXYD5
OASIS PortalFXYD5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICFXYD5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDFXYD5
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 FXYD5
DgiDB (Drug Gene Interaction Database)FXYD5
DoCM (Curated mutations)FXYD5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)FXYD5 (select a term)
intoGenFXYD5
NCG5 (London)FXYD5
Cancer3DFXYD5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606669   
Orphanet
MedgenFXYD5
Genetic Testing Registry FXYD5
NextProtQ96DB9 [Medical]
TSGene53827
GENETestsFXYD5
Huge Navigator FXYD5 [HugePedia]
snp3D : Map Gene to Disease53827
BioCentury BCIQFXYD5
ClinGenFXYD5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD53827
Chemical/Pharm GKB GenePA28445
Clinical trialFXYD5
Miscellaneous
canSAR (ICR)FXYD5 (select the gene name)
Probes
Litterature
PubMed35 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineFXYD5
EVEXFXYD5
GoPubMedFXYD5
iHOPFXYD5
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Nov 18 20:05:28 CET 2016

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.