Gene Gene information from NCBI Gene database.
Entrez ID 53828
Gene name FXYD domain containing ion transport regulator 4
Gene symbol FXYD4
Synonyms (NCBI Gene)
CHIF
Chromosome 10
Chromosome location 10q11.21
Summary This gene encodes a member of a family of small membrane proteins that share a 35-amino acid signature sequence domain, beginning with the sequence PFXYD and containing 7 invariant and 6 highly conserved amino acids. The approved human gene nomenclature f
miRNA miRNA information provided by mirtarbase database.
30
miRTarBase ID miRNA Experiments Reference
MIRT019195 hsa-miR-335-5p Microarray 18185580
MIRT1998509 hsa-miR-1915 CLIP-seq
MIRT1998510 hsa-miR-3689d CLIP-seq
MIRT1998511 hsa-miR-4488 CLIP-seq
MIRT1998512 hsa-miR-4640-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS
GO:0005890 Component Sodium:potassium-exchanging ATPase complex ISS
GO:0006811 Process Monoatomic ion transport IEA
GO:0006813 Process Potassium ion transport IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616926 4028 ENSG00000150201
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P59646
Protein name FXYD domain-containing ion transport regulator 4
Protein function Associates with and regulates the activity of the sodium/potassium-transporting ATPase (NKA) which catalyzes the hydrolysis of ATP coupled with the exchange of Na(+) and K(+) ions across the plasma membrane (By similarity). Increases the apparen
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02038 ATP1G1_PLM_MAT8 25 71 ATP1G1/PLM/MAT8 family Family
Sequence
MERVTLALLLLAGLTALEANDPFANKDDPFYYDWKNLQLSGLICGGLLAIAGIAAVLSGK
CKCKSSQKQHS
PVPEKAIPLITPGSATTC
Sequence length 89
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Aldosterone-regulated sodium reabsorption   Ion homeostasis
Ion transport by P-type ATPases
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HIRSCHSPRUNG DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Carcinoma Renal Cell Renal cell carcinoma Pubtator 26831905 Associate
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Colorectal neoplasm Pubtator 34270462 Associate
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma Pubtator 34238116 Associate
★☆☆☆☆
Found in Text Mining only