Gene Gene information from NCBI Gene database.
Entrez ID 53826
Gene name FXYD domain containing ion transport regulator 6
Gene symbol FXYD6
Synonyms (NCBI Gene)
-
Chromosome 11
Chromosome location 11q23.3
Summary This gene encodes a member of the FXYD family of transmembrane proteins. This particular protein encodes phosphohippolin, which likely affects the activity of Na,K-ATPase. Multiple alternatively spliced transcript variants encoding the same protein have b
miRNA miRNA information provided by mirtarbase database.
99
miRTarBase ID miRNA Experiments Reference
MIRT025043 hsa-miR-181a-5p Microarray 17612493
MIRT609317 hsa-miR-8485 HITS-CLIP 23824327
MIRT609316 hsa-miR-499a-3p HITS-CLIP 23824327
MIRT609315 hsa-miR-499b-3p HITS-CLIP 23824327
MIRT609314 hsa-miR-3689d HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
15
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005886 Component Plasma membrane IDA
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS
GO:0006811 Process Monoatomic ion transport IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606683 4030 ENSG00000137726
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H0Q3
Protein name FXYD domain-containing ion transport regulator 6 (Phosphohippolin)
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. Reduces the apparent affinity for int
PDB 8D3U , 8D3V , 8D3W , 8D3X , 8D3Y
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02038 ATP1G1_PLM_MAT8 25 71 ATP1G1/PLM/MAT8 family Family
Sequence
MELVLVFLCSLLAPMVLASAAEKEKEMDPFHYDYQTLRIGGLVFAVVLFSVGILLILSRR
CKCSFNQKPRA
PGDEEAQVENLITANATEPQKAEN
Sequence length 95
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Ion homeostasis
Ion transport by P-type ATPases
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
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
LEUKEMIA, MYELOID, ACUTE CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Alternating hemiplegia of childhood Associate 29895895
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Associate 36038676
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Associate 23721165
★☆☆☆☆
Found in Text Mining only
Colorectal Neoplasms Inhibit 34212047
★☆☆☆☆
Found in Text Mining only
Developmental Disabilities Associate 29895895
★☆☆☆☆
Found in Text Mining only
Glioma Inhibit 38093622
★☆☆☆☆
Found in Text Mining only
Neoplasm Metastasis Associate 29364472
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 32793117
★☆☆☆☆
Found in Text Mining only
Osteosarcoma Associate 29364472
★☆☆☆☆
Found in Text Mining only
Thyroid Neoplasms Associate 32793117
★☆☆☆☆
Found in Text Mining only