FXYD5 (FXYD domain containing ion transport regulator 5)

2008-07-01   Setsuo Hirohashi 

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

Identity

HGNC
FXYD5
LOCATION
19q13.12
LOCUSID
53827
ALIAS
DYSAD,HSPC113,IWU1,KCT1,OIT2,PRO6241,RIC
FUSION GENES
Show Gene Fusions

DNA/RNA

Transcription

0.9 kb mRNA; 534 bp open reading frame.

Proteins

Atlas Image
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

Entity name
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

Pubmed IDLast YearTitleAuthors
126188822003Prognostic significance of dysadherin expression in advanced colorectal carcinoma.Aoki S et al
174370142007In breast carcinoma dysadherin expression is correlated with invasiveness but not with E-cadherin.Batistatou A et al
176902502007Nuclear targeting of the growth hormone receptor results in dysregulation of cell proliferation and tumorigenesis.Conway-Campbell BL et al
128418642003Cell adhesion system and human cancer morphogenesis.Hirohashi S et al
117566602002Dysadherin, a cancer-associated cell membrane glycoprotein, down-regulates E-cadherin and promotes metastasis.Ino Y et al
171979232007Dysadherin 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 et al
164348922006Dysadherin expression in head and neck squamous cell carcinoma: association with lymphangiogenesis and prognostic significance.Kyzas PA et al
155363312004Prognostic significance of dysadherin expression in tongue cancer: immunohistochemical analysis of 91 cases.Nakanishi Y et al
174424822007Dysadherin: a new player in cancer progression.Nam JS et al
168495642006Chemokine (C-C motif) ligand 2 mediates the prometastatic effect of dysadherin in human breast cancer cells.Nam JS et al
157510182005Clinicopathologic significance of dysadherin expression in cutaneous malignant melanoma: immunohistochemical analysis of 115 patients.Nishizawa A et al
129703172003Dysadherin: expression and clinical significance in thyroid carcinoma.Sato H et al
154594992004Prognostic significance of dysadherin expression in esophageal squamous cell carcinoma.Shimada Y et al
151026902004Clinical significance of dysadherin expression in gastric cancer patients.Shimada Y et al
154661912004Dysadherin expression facilitates cell motility and metastatic potential of human pancreatic cancer cells.Shimamura T et al
161539222005Prognostic significance of dysadherin expression in patients with non-small cell lung cancer.Tamura M et al
126726992003Aberrant O-glycosylation inhibits stable expression of dysadherin, a carcinoma-associated antigen, and facilitates cell-cell adhesion.Tsuiji H et al
156196422004Prognostic significance of dysadherin expression in cervical squamous cell carcinoma.Wu D et al
152455932004Establishment of two cell lines from human gastric scirrhous carcinoma that possess the potential to metastasize spontaneously in nude mice.Yanagihara K et al

Other Information

Locus ID:

NCBI: 53827
MIM: 606669
HGNC: 4029
Ensembl: ENSG00000089327

Variants:

dbSNP: 53827
ClinVar: 53827
TCGA: ENSG00000089327
COSMIC: FXYD5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000089327ENST00000342879Q96DB9
ENSG00000089327ENST00000392217Q96DB9
ENSG00000089327ENST00000392218A8MVG1
ENSG00000089327ENST00000392219Q96DB9
ENSG00000089327ENST00000423817Q96DB9
ENSG00000089327ENST00000496493K7ER99
ENSG00000089327ENST00000541435Q96DB9
ENSG00000089327ENST00000543307F5H4X8
ENSG00000089327ENST00000588699F5H4X8
ENSG00000089327ENST00000590686Q96DB9
ENSG00000089327ENST00000592290K7EJH6

Expression (GTEx)

0
50
100
150
200
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
117566602002Dysadherin, a cancer-associated cell membrane glycoprotein, down-regulates E-cadherin and promotes metastasis.45
174424822007Dysadherin: a new player in cancer progression.23
154661912004Dysadherin expression facilitates cell motility and metastatic potential of human pancreatic cancer cells.15
154594992004Prognostic significance of dysadherin expression in esophageal squamous cell carcinoma.13
224941032012Dysadherin expression promotes the motility and survival of human breast cancer cells by AKT activation.13
151026902004Clinical significance of dysadherin expression in gastric cancer patients.12
157510182005Clinicopathologic significance of dysadherin expression in cutaneous malignant melanoma: immunohistochemical analysis of 115 patients.12
207120102010Comparison of the dysadherin and E-cadherin expression in primary lung cancer and metastatic sites.12
129703172003Dysadherin: expression and clinical significance in thyroid carcinoma.11

Citation

Setsuo Hirohashi

FXYD5 (FXYD domain containing ion transport regulator 5)

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

Online version: http://atlasgeneticsoncology.org/gene/40652/fxyd5