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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 for the family is FXYD-domain containing ion transport regulator. FXYD4, originally named CHIF for channel-inducing factor, has been shown to modulate the properties of the Na,K-ATPase, as has FXYD2, also known as the gamma subunit of the Na,K-ATPase, and FXYD7. Transmembrane topology has been established for FXYD4 and two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. Alternatively spliced transcript variants encoding the same protein have been found.[provided by RefSeq, May 2010]
FXYD4 (FXYD Domain Containing Ion Transport Regulator 4) is a Protein Coding gene. Diseases associated with FXYD4 include Vater/Vacterl Association and Vacterl Association. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Cardiac conduction. Gene Ontology (GO) annotations related to this gene include ion channel activity and potassium channel activity. An important paralog of this gene is FXYD3.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005267 | potassium channel activity | IEA | -- |
GO:0017080 | sodium channel regulator activity | IBA | 21873635 |
GO:0099106 | ion channel regulator activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0005890 | sodium:potassium-exchanging ATPase complex | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cardiac conduction |
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2 | Aldosterone-regulated sodium reabsorption | ||
3 | Ion channel transport | ||
4 | Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006811 | ion transport | IEA | -- |
GO:0015672 | monovalent inorganic cation transport | IEA | -- |
GO:0034220 | ion transmembrane transport | TAS | -- |
GO:0043269 | regulation of ion transport | IEA | -- |
GO:0071805 | potassium ion transmembrane transport | IEA | -- |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9a | · | 9b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||
SP2: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FXYD4 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FXYD4 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FXYD4 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Fxyd4 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Fxyd4 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | -- 31 |
|
OneToMany | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany |
Disorder | Aliases | PubMed IDs |
---|---|---|
vater/vacterl association |
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vacterl association |
|
|
deafness, autosomal recessive 33 |
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adamantinous craniopharyngioma |
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