FXYD2 (FXYD domain containing ion transport regulator 2)

2013-12-01  

Identity

HGNC
LOCATION
11q23.3
LOCUSID
ALIAS
ATP1G1,HOMG2
FUSION GENES

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000137731ENST00000260287P54710
ENSG00000137731ENST00000292079P54710
ENSG00000137731ENST00000528014P54710
ENSG00000137731ENST00000532119P54710

Expression (GTEx)

0
100
200
300
400
500
600

Pathways

PathwaySourceExternal ID
Cardiac muscle contractionKEGGhsa04260
Cardiac muscle contractionKEGGko04260
Aldosterone-regulated sodium reabsorptionKEGGko04960
Aldosterone-regulated sodium reabsorptionKEGGhsa04960
Proximal tubule bicarbonate reclamationKEGGko04964
Proximal tubule bicarbonate reclamationKEGGhsa04964
Salivary secretionKEGGko04970
Salivary secretionKEGGhsa04970
Pancreatic secretionKEGGko04972
Pancreatic secretionKEGGhsa04972
Carbohydrate digestion and absorptionKEGGko04973
Carbohydrate digestion and absorptionKEGGhsa04973
Protein digestion and absorptionKEGGko04974
Protein digestion and absorptionKEGGhsa04974
Bile secretionKEGGko04976
Bile secretionKEGGhsa04976
Mineral absorptionKEGGko04978
Mineral absorptionKEGGhsa04978
Endocrine and other factor-regulated calcium reabsorptionKEGGko04961
Endocrine and other factor-regulated calcium reabsorptionKEGGhsa04961
Insulin secretionKEGGhsa04911
Thyroid hormone synthesisKEGGhsa04918
Thyroid hormone synthesisKEGGko04918
Adrenergic signaling in cardiomyocytesKEGGhsa04261
Adrenergic signaling in cardiomyocytesKEGGko04261
Thyroid hormone signaling pathwayKEGGhsa04919
cGMP-PKG signaling pathwayKEGGhsa04022
cGMP-PKG signaling pathwayKEGGko04022
cAMP signaling pathwayKEGGhsa04024
cAMP signaling pathwayKEGGko04024
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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA24994ARNTGenePathwayassociated23788015

References

Pubmed IDYearTitleCitations
363131802022Downregulation of FXYD2 Is Associated with Poor Prognosis and Increased Regulatory T Cell Infiltration in Clear Cell Renal Cell Carcinoma.0
363131802022Downregulation of FXYD2 Is Associated with Poor Prognosis and Increased Regulatory T Cell Infiltration in Clear Cell Renal Cell Carcinoma.0
269108372016Targeting FXYD2 by cardiac glycosides potently blocks tumor growth in ovarian clear cell carcinoma.15
269108372016Targeting FXYD2 by cardiac glycosides potently blocks tumor growth in ovarian clear cell carcinoma.15
247945732015Structure of the Na,K-ATPase regulatory protein FXYD2b in micelles: implications for membrane-water interfacial arginines.6
257658462015Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia.24
247945732015Structure of the Na,K-ATPase regulatory protein FXYD2b in micelles: implications for membrane-water interfacial arginines.6
257658462015Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia.24
242040012014Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.30
242586192014FXYD2c plays a potential role in modulating Na(+)/K (+)-ATPase activity in HK-2 cells upon hypertonic challenge.2
242040012014Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.30
242586192014FXYD2c plays a potential role in modulating Na(+)/K (+)-ATPase activity in HK-2 cells upon hypertonic challenge.2
231967952013Expression of the Na+/K+-transporting ATPase gamma subunit FXYD2 in renal tumors.8
231967952013Expression of the Na+/K+-transporting ATPase gamma subunit FXYD2 in renal tumors.8
225881342012Identification of a crab gill FXYD2 protein and regulation of crab microsomal Na,K-ATPase activity by mammalian FXYD2 peptide.3

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-(fxyd-domain-containing-ion-transport-regulator-2)