FXYD3 (FXYD domain containing ion transport regulator 3)

Gene

• Entrez ID: 5349
• Gene name: FXYD domain containing ion transport regulator 3
• Gene symbol: FXYD3
• Synonyms (NCBI Gene): MAT8, PLML
• Chromosome: 19
• Chromosome location: 19q13.12
• Summary: This gene belongs to a small family of FXYD-domain containing regulators of Na+/K+ ATPases which share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD, and containing 7 invariant and 6 highly conserved amino acids. This gene e

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1007449	hsa-miR-103b	CLIP-seq
MIRT1007450	hsa-miR-1225-5p	CLIP-seq
MIRT1007451	hsa-miR-1289	CLIP-seq
MIRT1007452	hsa-miR-1909	CLIP-seq
MIRT1007453	hsa-miR-193a-5p	CLIP-seq
MIRT1007454	hsa-miR-224	CLIP-seq
MIRT1007455	hsa-miR-2467-3p	CLIP-seq
MIRT1007456	hsa-miR-3074-5p	CLIP-seq
MIRT1007457	hsa-miR-3120-5p	CLIP-seq
MIRT1007458	hsa-miR-3184	CLIP-seq
MIRT1007459	hsa-miR-340	CLIP-seq
MIRT1007460	hsa-miR-3940-5p	CLIP-seq
MIRT1007461	hsa-miR-423-5p	CLIP-seq
MIRT1007462	hsa-miR-4265	CLIP-seq
MIRT1007463	hsa-miR-4296	CLIP-seq
MIRT1007464	hsa-miR-4322	CLIP-seq
MIRT1007465	hsa-miR-4327	CLIP-seq
MIRT1007466	hsa-miR-4328	CLIP-seq
MIRT1007467	hsa-miR-4477a	CLIP-seq
MIRT1007468	hsa-miR-4507	CLIP-seq
MIRT1007469	hsa-miR-4530	CLIP-seq
MIRT1007470	hsa-miR-4539	CLIP-seq
MIRT1007471	hsa-miR-4753-3p	CLIP-seq
MIRT1007472	hsa-miR-4781-5p	CLIP-seq
MIRT1007473	hsa-miR-518a-5p	CLIP-seq
MIRT1007474	hsa-miR-527	CLIP-seq
MIRT1007475	hsa-miR-548g	CLIP-seq
MIRT1007476	hsa-miR-922	CLIP-seq
MIRT1007477	hsa-miR-944	CLIP-seq
MIRT1007478	hsa-miR-1206	CLIP-seq
MIRT1007479	hsa-miR-1229	CLIP-seq
MIRT1007453	hsa-miR-193a-5p	CLIP-seq
MIRT1007480	hsa-miR-2110	CLIP-seq
MIRT1007481	hsa-miR-3145-3p	CLIP-seq
MIRT1007482	hsa-miR-3150a-3p	CLIP-seq
MIRT1007483	hsa-miR-3150b-3p	CLIP-seq
MIRT1007484	hsa-miR-3175	CLIP-seq
MIRT1007485	hsa-miR-331-5p	CLIP-seq
MIRT1007486	hsa-miR-342-3p	CLIP-seq
MIRT1007460	hsa-miR-3940-5p	CLIP-seq
MIRT1007462	hsa-miR-4265	CLIP-seq
MIRT1007487	hsa-miR-4294	CLIP-seq
MIRT1007463	hsa-miR-4296	CLIP-seq
MIRT1007464	hsa-miR-4322	CLIP-seq
MIRT1007488	hsa-miR-4436a	CLIP-seq
MIRT1007489	hsa-miR-4443	CLIP-seq
MIRT1007468	hsa-miR-4507	CLIP-seq
MIRT1007490	hsa-miR-4678	CLIP-seq
MIRT1007471	hsa-miR-4753-3p	CLIP-seq
MIRT1007491	hsa-miR-4784	CLIP-seq
MIRT1007492	hsa-miR-532-5p	CLIP-seq
MIRT1007493	hsa-miR-765	CLIP-seq
MIRT1007494	hsa-miR-939	CLIP-seq
MIRT1998508	hsa-miR-4695-5p	CLIP-seq
MIRT2442174	hsa-miR-3119	CLIP-seq
MIRT1007462	hsa-miR-4265	CLIP-seq
MIRT1007463	hsa-miR-4296	CLIP-seq
MIRT1007464	hsa-miR-4322	CLIP-seq
MIRT2442175	hsa-miR-4417	CLIP-seq
MIRT2442176	hsa-miR-4446-5p	CLIP-seq
MIRT2442177	hsa-miR-4690-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005254	Function	Chloride channel activity	TAS	7836447
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	7836447
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006813	Process	Potassium ion transport	IEA
GO:0006814	Process	Sodium ion transport	IEA
GO:0006821	Process	Chloride transport	TAS	7836447
GO:0016020	Component	Membrane	IEA
GO:0017080	Function	Sodium channel regulator activity	IBA
GO:0043269	Process	Regulation of monoatomic ion transport	IEA
GO:0051117	Function	ATPase binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	19199708
GO:0099106	Function	Ion channel regulator activity	IEA
GO:1902476	Process	Chloride transmembrane transport	IEA
GO:1903278	Process	Positive regulation of sodium ion export across plasma membrane	IBA

Other IDs

• MIM: 604996
• HGNC: 4027
• e!Ensembl: ENSG00000089356

Protein

• UniProt ID: Q14802
• Protein name: FXYD domain-containing ion transport regulator 3 (Chloride conductance inducer protein Mat-8) (Mammary tumor 8 kDa protein) (Phospholemman-like) (Sodium/potassium-transporting ATPase subunit FXYD3)
• Protein function: Associates with and regulates the activity of the sodium/potassium-transporting ATPase (NKA) which transports Na(+) out of the cell and K(+) into the cell (PubMed:17077088). Reduces glutathionylation of the NKA beta-1 subunit ATP1B1, thus revers
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02038	ATP1G1_PLM_MAT8	25 → 71	ATP1G1/PLM/MAT8 family	Family

• Tissue specificity: TISSUE SPECIFICITY: Isoform 1: Expressed mainly in differentiated cells (at protein level). Isoform 2: Expressed mainly in undifferentiated cells (at protein level). {ECO:0000269|PubMed:17077088}.
• Sequence:

  MQKVTLGLLVFLAGFPVLDANDLEDKNSPFYYDWHSLQVGGLICAGVLCAMGIIIVMSAK
  CKCKFGQKSGHHPGETPPLITPGSAQS

• Sequence length: 87

Pathways

Reactome:

Ion homeostasis
Ion transport by P-type ATPases

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
HEART FAILURE, DIASTOLIC	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HODGKINS LYMPHOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SMALL CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	29686080		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	19893046		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	16003754		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	25920992		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	26740212, 30206184		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19571376	Stimulate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19789341, 19893046, 21372379	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	19893046, 24167366	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	14654946		★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	19571376	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33621431	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	19893046		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	19109419	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	17409496, 19955746		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	17409496		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34270462, 37535601	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	24167366	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	24167366	Associate	★☆☆☆☆ Found in Text Mining only
Fibrocystic Breast Disease	Breast fibrocystic disease	Pubtator	19571376	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure, Diastolic	Heart Failure	CTD_human_DG	29556499		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver carcinoma	Liver carcinoma	BEFREE	29435033		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	19893046	Inhibit	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	19893046	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26740212, 30206184		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	19893046		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	CTD_human_DG	16003754		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	21288909		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	14654946		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	16003754, 26740212, 29435033		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	19893046, 7836447		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	19955746, 20015323, 24167366, 27716384		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	21288909		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	16003754, 29650332		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	LHGDN	16003754		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	CTD_human_DG	16003754		★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	16003754		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	14654946		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	14654946		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	14654946		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	29686080, 37924098	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	24167366		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	20364041, 35831348	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	32432654	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Malformations	Vascular malformation	Pubtator	27716384	Associate	★☆☆☆☆ Found in Text Mining only