Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Transcription factors Other IDs Associated diseases
Entrez ID	486
Gene name	FXYD domain containing ion transport regulator 2
Gene symbol	FXYD2
Synonyms (NCBI Gene)	ATP1G1HOMG2
Chromosome	11
Chromosome location	11q23.3
Summary	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

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miRTarBase ID	miRNA	Experiments	Reference
MIRT019415	hsa-miR-148b-3p	Microarray	17612493
MIRT022024	hsa-miR-128-3p	Microarray	17612493
MIRT444235	hsa-miR-941	PAR-CLIP	22100165
MIRT444234	hsa-miR-4453	PAR-CLIP	22100165
MIRT444233	hsa-miR-4538	PAR-CLIP	22100165
MIRT444232	hsa-miR-4742-3p	PAR-CLIP	22100165
MIRT444231	hsa-miR-27b-5p	PAR-CLIP	22100165
MIRT444230	hsa-miR-4999-5p	PAR-CLIP	22100165
MIRT444235	hsa-miR-941	PAR-CLIP	22100165
MIRT444234	hsa-miR-4453	PAR-CLIP	22100165
MIRT444233	hsa-miR-4538	PAR-CLIP	22100165
MIRT444232	hsa-miR-4742-3p	PAR-CLIP	22100165
MIRT444231	hsa-miR-27b-5p	PAR-CLIP	22100165
MIRT444230	hsa-miR-4999-5p	PAR-CLIP	22100165
MIRT1007429	hsa-miR-1270	CLIP-seq
MIRT1007430	hsa-miR-138	CLIP-seq
MIRT1007431	hsa-miR-185	CLIP-seq
MIRT1007432	hsa-miR-3126-5p	CLIP-seq
MIRT1007433	hsa-miR-323-5p	CLIP-seq
MIRT1007434	hsa-miR-3921	CLIP-seq
MIRT1007435	hsa-miR-4306	CLIP-seq
MIRT1007436	hsa-miR-432	CLIP-seq
MIRT1007437	hsa-miR-4419a	CLIP-seq
MIRT1007438	hsa-miR-4456	CLIP-seq
MIRT1007439	hsa-miR-4510	CLIP-seq
MIRT1007440	hsa-miR-4531	CLIP-seq
MIRT1007441	hsa-miR-4644	CLIP-seq
MIRT1007442	hsa-miR-4653-5p	CLIP-seq
MIRT1007443	hsa-miR-4710	CLIP-seq
MIRT1007444	hsa-miR-485-5p	CLIP-seq
MIRT1007445	hsa-miR-503	CLIP-seq
MIRT1007446	hsa-miR-593	CLIP-seq
MIRT1007447	hsa-miR-620	CLIP-seq
MIRT1007448	hsa-miR-876-3p	CLIP-seq
MIRT1998507	hsa-miR-1207-3p	CLIP-seq
MIRT2388271	hsa-miR-34a	CLIP-seq
MIRT2388272	hsa-miR-34c-5p	CLIP-seq
MIRT2388273	hsa-miR-449a	CLIP-seq
MIRT2388274	hsa-miR-449b	CLIP-seq
MIRT2388275	hsa-miR-518e	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
HNF1B	Unknown	24204001
PCBD1	Repression	24204001

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001671	Function	ATPase activator activity	ISS
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	TAS
GO:0005890	Component	Sodium:potassium-exchanging ATPase complex	IEA
GO:0005890	Component	Sodium:potassium-exchanging ATPase complex	IPI	35803952
GO:0005890	Component	Sodium:potassium-exchanging ATPase complex	ISS
GO:0005890	Component	Sodium:potassium-exchanging ATPase complex	TAS	9048881
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006883	Process	Intracellular sodium ion homeostasis	ISO
GO:0008285	Process	Negative regulation of cell population proliferation	IEA
GO:0010248	Process	Establishment or maintenance of transmembrane electrochemical gradient	NAS	24688018
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0017080	Function	Sodium channel regulator activity	IBA
GO:0017080	Function	Sodium channel regulator activity	IEA
GO:0030007	Process	Intracellular potassium ion homeostasis	ISO
GO:0030674	Function	Protein-macromolecule adaptor activity	ISS
GO:0036376	Process	Sodium ion export across plasma membrane	ISO
GO:0036376	Process	Sodium ion export across plasma membrane	ISS
GO:0043269	Process	Regulation of monoatomic ion transport	IEA
GO:0055085	Process	Transmembrane transport	ISS
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0071475	Process	Cellular hyperosmotic salinity response	IEA
GO:0098662	Process	Inorganic cation transmembrane transport	IEA
GO:0099106	Function	Ion channel regulator activity	IEA
GO:1902600	Process	Proton transmembrane transport	NAS	24688018
GO:1903278	Process	Positive regulation of sodium ion export across plasma membrane	IBA
GO:1990573	Process	Potassium ion import across plasma membrane	ISO
GO:1990573	Process	Potassium ion import across plasma membrane	ISS

MIM	HGNC	e!Ensembl
601814	4026	ENSG00000137731

P54710

Protein name

Sodium/potassium-transporting ATPase subunit gamma (Na(+)/K(+) ATPase subunit gamma) (FXYD domain-containing ion transport regulator 2) (Sodium pump gamma chain)

Protein function

May be involved in forming the receptor site for cardiac glycoside binding or may modulate the transport function of the sodium ATPase.

PDB

2MKV , 7E1Z , 7E20 , 7E21

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02038	ATP1G1_PLM_MAT8	14 → 60	ATP1G1/PLM/MAT8 family	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in the distal convoluted tubule in the kidney. Found on basolateral membranes of nephron epithelial cells.

Sequence

MTGLSMDGGGSPKGDVDPFYYDYETVRNGGLIFAGLAFIVGLLILLSRRFRCGGNKKRRQ
INEDEP

Sequence length

Interactions

View interactions

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Renal hypomagnesemia 2	Pathogenic	rs28938168	RCV000008123

Show/Hide Unknown Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
FXYD2-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity	rs182462094, rs145863486, rs371153018, rs180728680, rs146614981, rs138991613	RCV003951095 RCV004756430 RCV003899777 RCV003966880 RCV003409466 RCV004756101
Renal Hypomagnesemia, Dominant	Uncertain significance; Benign	rs886047704, rs12273102	RCV000262669 RCV000391902

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenoma Chromophobe	Stimulate	23196795
Bartter Syndrome Type 3 with Hypocalciuria	Associate	19389850, 19865785, 25765846
Carcinogenesis	Associate	36313180
Carcinoma Renal Cell	Inhibit	36313180
Chondrocalcinosis	Associate	25765846
Colorectal Neoplasms	Associate	34270462
Fructose and Galactose Intolerance	Associate	40428357
Gitelman Syndrome	Associate	34607911
Glioma	Associate	34753441
Glycosuria Renal	Associate	34607911
Hypomagnesemia primary	Associate	19389850
Kidney Diseases	Associate	40428357
Macrothrombocytopenia Autosomal Dominant Tubb1 Related	Associate	25765846
Multiple Pterygium Syndrome Autosomal Dominant	Associate	25765846
Neoplasms	Inhibit	26910837
Oligodendroglioma	Associate	34753441
Ovarian Neoplasms	Stimulate	26910837, 38494731
Proteinuria	Associate	40428357

FXYD2 (FXYD domain containing ion transport regulator 2)