Gene Gene information from NCBI Gene database.
Entrez ID 53827
Gene name FXYD domain containing ion transport regulator 5
Gene symbol FXYD5
Synonyms (NCBI Gene)
DYSADHSPC113IWU1KCT1OIT2PRO6241RIC
Chromosome 19
Chromosome location 19q13.12
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.
222
miRTarBase ID miRNA Experiments Reference
MIRT514323 hsa-miR-106a-5p PAR-CLIP 20371350
MIRT514321 hsa-miR-106b-5p PAR-CLIP 20371350
MIRT514322 hsa-miR-17-5p PAR-CLIP 20371350
MIRT514320 hsa-miR-20a-5p PAR-CLIP 20371350
MIRT514319 hsa-miR-20b-5p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
19
GO ID Ontology Definition Evidence Reference
GO:0003779 Function Actin binding IDA 11756660
GO:0005515 Function Protein binding IPI 20374249
GO:0005886 Component Plasma membrane IDA 11756660
GO:0005886 Component Plasma membrane IEA
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
606669 4029 ENSG00000089327
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96DB9
Protein name FXYD domain-containing ion transport regulator 5 (Dysadherin)
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). May increase NKA acti
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF02038 ATP1G1_PLM_MAT8 130 178 ATP1G1/PLM/MAT8 family Family
Sequence
MSPSGRLCLLTIVGLILPTRGQTLKDTTSSSSADSTIMDIQVPTRAPDAVYTELQPTSPT
PTWPADETPQPQTQTQQLEGTDGPLVTDPETHKSTKAAHPTDDTTTLSERPSPSTDVQTD
PQTLKPSGFHEDDPFFYDEHTLRKRGLLVAAVLFITGIIILTSGKCRQLSRLCRNRCR
Sequence length 178
Interactions View interactions
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
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL CTD
★★☆☆☆
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
Acute Cerebrovascular Accidents Stroke BEFREE 28265014
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 28606176
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 16849564, 22494103, 28515087
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 16849564, 17437014, 22494103 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Carcinoma BEFREE 22965940
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 35977595 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Lobular Lobular carcinoma Pubtator 17437014 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 28515087
★☆☆☆☆
Found in Text Mining only
Carcinoma Squamous Cell Squamous cell carcinoma Pubtator 15619642 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma, Ovarian Epithelial Ovarian Epithelial carcinoma BEFREE 31746425
★☆☆☆☆
Found in Text Mining only