Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
53826
Gene name Gene Name - the full gene name approved by the HGNC.
FXYD domain containing ion transport regulator 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FXYD6
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q23.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606683 4030 ENSG00000137726
Protein
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alternating hemiplegia of childhood Associate 29895895
Carcinoma Hepatocellular Associate 36038676
Colorectal Neoplasms Associate 23721165
Colorectal Neoplasms Inhibit 34212047
Developmental Disabilities Associate 29895895
Glioma Inhibit 38093622
Neoplasm Metastasis Associate 29364472
Neoplasms Associate 32793117
Osteosarcoma Associate 29364472
Thyroid Neoplasms Associate 32793117