FXYD2 (FXYD domain containing ion transport regulator 2)

2013-12-01 Affiliation

Identity

HGNC

FXYD2

LOCATION

11q23.3

LOCUSID

486

ALIAS

ATP1G1,HOMG2

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 486
MIM: 601814
HGNC: 4026
Ensembl: ENSG00000137731

Variants:

dbSNP: 486
ClinVar: 486
TCGA: ENSG00000137731
COSMIC: FXYD2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000137731	ENST00000260287	P54710
ENSG00000137731	ENST00000292079	P54710
ENSG00000137731	ENST00000528014	P54710
ENSG00000137731	ENST00000532119	P54710

Expression (GTEx)

100

200

300

400

500

600

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

Pathway	Source	External ID
Cardiac muscle contraction	KEGG	hsa04260
Cardiac muscle contraction	KEGG	ko04260
Aldosterone-regulated sodium reabsorption	KEGG	ko04960
Aldosterone-regulated sodium reabsorption	KEGG	hsa04960
Proximal tubule bicarbonate reclamation	KEGG	ko04964
Proximal tubule bicarbonate reclamation	KEGG	hsa04964
Salivary secretion	KEGG	ko04970
Salivary secretion	KEGG	hsa04970
Pancreatic secretion	KEGG	ko04972
Pancreatic secretion	KEGG	hsa04972
Carbohydrate digestion and absorption	KEGG	ko04973
Carbohydrate digestion and absorption	KEGG	hsa04973
Protein digestion and absorption	KEGG	ko04974
Protein digestion and absorption	KEGG	hsa04974
Bile secretion	KEGG	ko04976
Bile secretion	KEGG	hsa04976
Mineral absorption	KEGG	ko04978
Mineral absorption	KEGG	hsa04978
Endocrine and other factor-regulated calcium reabsorption	KEGG	ko04961
Endocrine and other factor-regulated calcium reabsorption	KEGG	hsa04961
Insulin secretion	KEGG	hsa04911
Thyroid hormone synthesis	KEGG	hsa04918
Thyroid hormone synthesis	KEGG	ko04918
Adrenergic signaling in cardiomyocytes	KEGG	hsa04261
Adrenergic signaling in cardiomyocytes	KEGG	ko04261
Thyroid hormone signaling pathway	KEGG	hsa04919
cGMP-PKG signaling pathway	KEGG	hsa04022
cGMP-PKG signaling pathway	KEGG	ko04022
cAMP signaling pathway	KEGG	hsa04024
cAMP signaling pathway	KEGG	ko04024
Muscle contraction	REACTOME	R-HSA-397014
Transmembrane transport of small molecules	REACTOME	R-HSA-382551
Ion channel transport	REACTOME	R-HSA-983712
Ion transport by P-type ATPases	REACTOME	R-HSA-936837
Cardiac conduction	REACTOME	R-HSA-5576891
Ion homeostasis	REACTOME	R-HSA-5578775

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA24994	ARNT	Gene	Pathway	associated			23788015

References

Pubmed ID	Year	Title	Citations
10559186	1999	The gamma subunit modulates Na(+) and K(+) affinity of the renal Na,K-ATPase.	39
21130072	2011	HNF-1B specifically regulates the transcription of the γa-subunit of the Na+/K+-ATPase.	23
17316900	2007	Glutamate transporter GLAST/EAAT1 directs cell surface expression of FXYD2/gamma subunit of Na, K-ATPase in human fetal astrocytes.	16
20379810	2010	A genomic-based approach identifies FXYD domain containing ion transport regulator 2 (FXYD2)gammaa as a pancreatic beta cell-specific biomarker.	15
24204001	2014	Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.	13
18000745	2007	Structures of the FXYD regulatory proteins in lipid micelles and membranes.	12
25765846	2015	Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia.	9
12907667	2003	Modulation of Na,K-ATPase by the gamma subunit: studies with transfected cells and transmembrane mimetic peptides.	8
19879113	2010	Differential cellular expression of FXYD1 (phospholemman) and FXYD2 (gamma subunit of Na, K-ATPase) in normal human tissues: a study using high density human tissue microarrays.	8
26910837	2016	Targeting FXYD2 by cardiac glycosides potently blocks tumor growth in ovarian clear cell carcinoma.	7

Citation

Dessen P

FXYD2 (FXYD domain containing ion transport regulator 2)

Atlas Genet Cytogenet Oncol Haematol. 2013-12-01

Online version: http://atlasgeneticsoncology.org/gene/53632/fxyd2