• Gene id: 486

Gene Summary

• Gene Symbol: FXYD2   Gene   UCSC   Ensembl
• Aliases: ATP1G1, HOMG2
• Gene name: FXYD domain containing ion transport regulator 2
• Alternate names: sodium/potassium-transporting ATPase subunit gamma, ATPase, Na+/K+ transporting, gamma 1 polypeptide, Na(+)/K(+) ATPase subunit gamma, sodium pump gamma chain,
• Gene location: 11q23.3 (117828088: 117820056)     Exons: 7     NC_000011.10
• Gene summary(Entrez): This gene encodes a member of the FXYD family of transmembrane proteins. This particular protein encodes the sodium/potassium-transporting ATPase subunit gamma. Mutations in this gene have been associated with Renal Hypomagnesemia-2. Alternatively spliced

SNPs

rs879253743

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.100975538C>A
NC_000002.12   g.100975538C>G
NC_000002.11   g.101592000C>A
NC_000002.11   g.101592000C>G
NG_023259.1   g.160388C>A
NG_023259.1   g.160388C>G
NM_002518.4   c.1363C>A
NM_002518.4   c.1363C>G
NM_002518.3   c.1363C>A
NM_002518.3   c.1363C>G
XM  

rs189037

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.108223106G>A
NC_000011.9   g.108093833G>A
NG_009830.1   g.5275G>A
NM_000051.4   c.-111G>A
NM_000051.3   c.-111G>A
NM_001351834.2   c.-199G>A
NM_001351834.1   c.-199G>A
NM_001351835.1   c.-111G>A
XM_011542844.3   c.-1133G>A
XM_011542842.3   c.-111G>A
XM_  

Protein Summary

• Protein general information: P54710  
  • Name: Sodium/potassium transporting ATPase subunit gamma (Na(+)/K(+) ATPase subunit gamma) (FXYD domain containing ion transport regulator 2) (Sodium pump gamma chain)
  • Length: 66  
  • Mass: 7283
  • Tissue specificity: Expressed in the distal convoluted tubule in the kidney. Found on basolateral membranes of nephron epithelial cells.
• Sequence:

  MTGLSMDGGGSPKGDVDPFYYDYETVRNGGLIFAGLAFIVGLLILLSRRFRCGGNKKRRQINEDEP

• Structural information:
  • Interpro: IPR000272  
  • Prosite: PS01310
  • PDB: 2MKV
  • PDBsum: 2MKV
  • STRING: ENSP00000292079
• Other Databases: GeneCards:  FXYD2  Malacards:  FXYD2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:2000649	regulation of sodium ion transmembrane transporter activity	IBA	biological process
GO:0017080	sodium channel regulator activity	IBA	molecular function
GO:0043269	regulation of ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0099106	ion channel regulator activity	IEA	molecular function
GO:0006814	sodium ion transport	IEA	biological process
GO:0006814	sodium ion transport	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0006813	potassium ion transport	IEA	biological process
GO:0006813	potassium ion transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005391	sodium:potassium-exchanging ATPase activity	TAS	molecular function
GO:0005215	transporter activity	TAS	molecular function
GO:0005890	sodium:potassium-exchanging ATPase complex	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0034220	ion transmembrane transport	TAS	biological process
GO:1903779	regulation of cardiac conduction	TAS	biological process
GO:0005890	sodium:potassium-exchanging ATPase complex	ISS	cellular component
GO:0055085	transmembrane transport	ISS	biological process
GO:0036376	sodium ion export across plasma membrane	ISS	biological process
GO:1990573	potassium ion import across plasma membrane	ISS	biological process
GO:0016020	membrane	IEA	cellular component
GO:0010248	establishment or maintenance of transmembrane electrochemical gradient	IEA	biological process
GO:0070062	extracellular exosome	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04024	cAMP signaling pathway
hsa04022	cGMP-PKG signaling pathway
hsa04261	Adrenergic signaling in cardiomyocytes
hsa04919	Thyroid hormone signaling pathway
hsa04974	Protein digestion and absorption
hsa04260	Cardiac muscle contraction
hsa04972	Pancreatic secretion
hsa04970	Salivary secretion
hsa04911	Insulin secretion
hsa04918	Thyroid hormone synthesis
hsa04978	Mineral absorption
hsa04976	Bile secretion
hsa04961	Endocrine and other factor-regulated calcium reabsorption
hsa04973	Carbohydrate digestion and absorption
hsa04960	Aldosterone-regulated sodium reabsorption
hsa04964	Proximal tubule bicarbonate reclamation

Diseases

Associated diseases	References
Hypomagnesemia	KEGG:H01210
Hypomagnesemia	KEGG:H01210
Renal hypomagnesemia 2	PMID:11062458
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq