Homo sapiens Protein: FXYD6
Summary
InnateDB Protein IDBP-592486.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol FXYD6
Protein Name FXYD domain containing ion transport regulator 6
Synonyms
Species Homo sapiens
Ensembl Protein ENSP00000431427
InnateDB Gene IDBG-73337 (FXYD6)
Protein Structure
UniProt Annotation
Function
Subcellular Localization Membrane {ECO:0000305}; Single-pass type I membrane protein {ECO:0000305}.
Disease Associations Schizophrenia 2 (SCZD2) [MIM:603342]: A complex, multifactorial psychotic disorder or group of disorders characterized by disturbances in the form and content of thought (e.g. delusions, hallucinations), in mood (e.g. inappropriate affect), in sense of self and relationship to the external world (e.g. loss of ego boundaries, withdrawal), and in behavior (e.g bizarre or apparently purposeless behavior). Although it affects emotions, it is distinguished from mood disorders in which such disturbances are primary. Similarly, there may be mild impairment of cognitive function, and it is distinguished from the dementias in which disturbed cognitive function is considered primary. Some patients manifest schizophrenic as well as bipolar disorder symptoms and are often given the diagnosis of schizoaffective disorder. {ECO:0000269PubMed:17357072}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Tissue Specificity
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 14 experimentally validated interaction(s) in this database.
Experimentally validated
Total 14 [view]
Protein-Protein 14 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
GO:0005216 ion channel activity
Biological Process
GO:0006811 ion transport
GO:0008150 biological_process
GO:0034220 ion transmembrane transport
GO:0055085 transmembrane transport
Cellular Component
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
Protein Structure and Domains
PDB ID
InterPro IPR000272 Ion-transport regulator, FXYD motif
PFAM PF02038
PRINTS
PIRSF
SMART
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9H0Q3
PhosphoSite PhosphoSite-Q9H0Q3
TrEMBL A0A024R3J8
UniProt Splice Variant
Entrez Gene 53826
UniGene
RefSeq
HUGO HGNC:4030
OMIM 606683
CCDS CCDS8387
HPRD 09456
IMGT
EMBL AK289629 AK290757 AL136699 AL832811 AP000757 AY358976 BC018652 BC093040 BT006717 CH471065 CN310658 CR533457
GenPept AAH18652 AAH93040 AAP35363 AAQ89335 BAF82318 BAF83446 CAB66634 CAG38488 CAI46171 EAW67327 EAW67328 EAW67329 EAW67331 EAW67332 EAW67333 EAW67335 EAW67336 EAW67337