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

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Transcription factor	Regulation	Reference
HNF1B	Unknown	24204001
PCBD1	Repression	24204001

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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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Renal hypomagnesemia 2	Pathogenic	rs28938168	RCV000008123	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AUTOSOMAL DOMINANT PRIMARY HYPOMAGNESEMIA WITH HYPOCALCIURIA	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDER OF MAGNESIUM METABOLISM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FXYD2-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPEROPIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal Hypomagnesemia, Dominant	Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (28)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Autosomal dominant primary hypomagnesemia with hypocalciuria	Hypomagnesemia With Hypocalciuria	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bartter Syndrome Type 3 with Hypocalciuria	Bartter syndrome	Pubtator	19389850, 19865785, 25765846	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Calcium pyrophosphate deposition disease	Chondrocalcinosis	BEFREE	25765846		★★★★★ ★☆☆☆☆ Found in Text Mining only
Calcium pyrophosphate deposition disease	Chondrocalcinosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	36313180	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	36313180	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chondrocalcinosis	Chondrocalcinosis	Pubtator	25765846	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34270462	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28224192		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28224192		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gitelman Syndrome	Gitelman syndrome	Pubtator	34607911	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	34753441	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	34607911	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	CTD_human_DG	22228705		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypomagnesemia 2, renal	Hypomagnesemia	UNIPROT_DG	11062458		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypomagnesemia 2, renal	Hypomagnesemia	ORPHANET_DG	17980699		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypomagnesemia 2, renal	Hypomagnesemia	GENOMICS_ENGLAND_DG	25765846, 27604308		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypomagnesemia 2, renal	Hypomagnesemia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypomagnesemia 2, renal	Hypomagnesemia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypomagnesemia 2, renal	Hypomagnesemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	40428357	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Magnesium Deficiency	Magnesium Deficiency	CTD_human_DG	11062458		★★★★★ ★☆☆☆☆ Found in Text Mining only
Maturity onset diabetes mellitus in young	Mason type diabetes	BEFREE	24204001		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	GWASCAT_DG	27182965		★★★★★ ★☆☆☆☆ Found in Text Mining only
Oligodendroglioma	Oligodendroglioma	Pubtator	34753441	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	26910837, 38494731	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary hypomagnesemia (disorder)	Hypomagnesemia	CTD_human_DG	11062458		★★★★★ ★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	40428357	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

FXYD2 (FXYD domain containing ion transport regulator 2)