FXYD6 (FXYD domain containing ion transport regulator 6)

2012-11-01  

Identity

HGNC
FXYD6
LOCATION
11q23.3
LOCUSID
53826
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 53826
MIM: 606683
HGNC: 4030
Ensembl: ENSG00000137726

Variants:

dbSNP: 53826
ClinVar: 53826
TCGA: ENSG00000137726
COSMIC: FXYD6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000137726ENST00000260282Q9H0Q3
ENSG00000137726ENST00000260282A0A024R3J8
ENSG00000137726ENST00000524656Q9H0Q3
ENSG00000137726ENST00000524656A0A024R3J8
ENSG00000137726ENST00000524841E9PJ02
ENSG00000137726ENST00000526014Q9H0Q3
ENSG00000137726ENST00000526014A0A024R3J8
ENSG00000137726ENST00000527717Q9H0Q3
ENSG00000137726ENST00000527717A0A024R3J8
ENSG00000137726ENST00000529335E9PHZ3
ENSG00000137726ENST00000530956Q9H0Q3
ENSG00000137726ENST00000530956A0A024R3J8
ENSG00000137726ENST00000539526Q9H0Q3
ENSG00000137726ENST00000539526A0A024R3J8
ENSG00000137726ENST00000584230E9PJ02
ENSG00000137726ENST00000584394J3QKN1

Expression (GTEx)

0
50
100
150
200
250
300
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

Pathways

PathwaySourceExternal ID
Muscle contractionREACTOMER-HSA-397014
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Ion transport by P-type ATPasesREACTOMER-HSA-936837
Cardiac conductionREACTOMER-HSA-5576891
Ion homeostasisREACTOMER-HSA-5578775

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
173570722007A genetic association study of chromosome 11q22-24 in two different samples implicates the FXYD6 gene, encoding phosphohippolin, in susceptibility to schizophrenia.13
173570722007A genetic association study of chromosome 11q22-24 in two different samples implicates the FXYD6 gene, encoding phosphohippolin, in susceptibility to schizophrenia.13
263027712016MicroRNA-137 is downregulated in human osteosarcoma and regulates cell proliferation and migration through targeting FXYD6.9
247152682014FXYD6: a novel therapeutic target toward hepatocellular carcinoma.6
184553062008A genetic association study of the FXYD domain containing ion transport regulator 6 (FXYD6) gene, encoding phosphohippolin, in susceptibility to schizophrenia in a Japanese population.3
184553062008A genetic association study of the FXYD domain containing ion transport regulator 6 (FXYD6) gene, encoding phosphohippolin, in susceptibility to schizophrenia in a Japanese population.3
204680772010Failure to confirm genetic association of the FXYD6 gene with schizophrenia: the Japanese population and meta-analysis.2
212162382011A novel replicated association between FXYD6 gene and schizophrenia.2
201493922010No association between the FXYD6 gene and schizophrenia in the Chinese Han population.1
201493922010No association between the FXYD6 gene and schizophrenia in the Chinese Han population.1

Citation

Dessen P

FXYD6 (FXYD domain containing ion transport regulator 6)

Atlas Genet Cytogenet Oncol Haematol. 2012-11-01

Online version: http://atlasgeneticsoncology.org/gene/53003/fxyd6