Human Gene FXYD6 (ENST00000526014.6_8) from GENCODE V47lift37
  Description: FXYD domain containing ion transport regulator 6, transcript variant 1 (from RefSeq NM_022003.4)
Gencode Transcript: ENST00000526014.6_8
Gencode Gene: ENSG00000137726.17_11
Transcript (Including UTRs)
   Position: hg19 chr11:117,707,696-117,747,373 Size: 39,678 Total Exon Count: 8 Strand: -
Coding Region
   Position: hg19 chr11:117,710,517-117,713,491 Size: 2,975 Coding Exon Count: 6 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:117,707,696-117,747,373)mRNA (may differ from genome)Protein (95 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FXYD6_HUMAN
DESCRIPTION: RecName: Full=FXYD domain-containing ion transport regulator 6; AltName: Full=Phosphohippolin; Flags: Precursor;
SUBCELLULAR LOCATION: Membrane; Single-pass type I membrane protein (Potential).
DISEASE: Genetic variations in FXYD6 are associated with susceptibility to schizophrenia type 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.
SIMILARITY: Belongs to the FXYD family.
SEQUENCE CAUTION: Sequence=AAQ89335.1; Type=Frameshift; Positions=93;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: FXYD6
Diseases sorted by gene-association score: psychotic disorder (3), schizophrenia (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 219.56 RPKM in Brain - Cortex
Total median expression: 3285.40 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -35.0072-0.486 Picture PostScript Text
3' UTR -450.901318-0.342 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000272 - Ion-transport_regulator_FXYD

Pfam Domains:
PF02038 - ATP1G1/PLM/MAT8 family

ModBase Predicted Comparative 3D Structure on Q9H0Q3
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003674 molecular_function
GO:0005216 ion channel activity
GO:0005515 protein binding
GO:0017080 sodium channel regulator activity

Biological Process:
GO:0006811 ion transport
GO:0008150 biological_process
GO:0034220 ion transmembrane transport
GO:2000649 regulation of sodium ion transmembrane transporter activity

Cellular Component:
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  KJ893999 - Synthetic construct Homo sapiens clone ccsbBroadEn_03393 FXYD6 gene, encodes complete protein.
LF208463 - JP 2014500723-A/15966: Polycomb-Associated Non-Coding RNAs.
AK055389 - Homo sapiens cDNA FLJ30827 fis, clone FEBRA2001745.
AL832811 - Homo sapiens mRNA; cDNA DKFZp667P0423 (from clone DKFZp667P0423).
AL136699 - Homo sapiens mRNA; cDNA DKFZp564I1782 (from clone DKFZp564I1782).
BC018652 - Homo sapiens FXYD domain containing ion transport regulator 6, mRNA (cDNA clone MGC:2369 IMAGE:2822864), complete cds.
BC093040 - Homo sapiens FXYD domain containing ion transport regulator 6, mRNA (cDNA clone MGC:110994 IMAGE:6526843), complete cds.
AK092198 - Homo sapiens cDNA FLJ34879 fis, clone NT2NE2015712.
AX747406 - Sequence 931 from Patent EP1308459.
AY358976 - Homo sapiens clone DNA57693 FXYD6 (UNQ521) mRNA, complete cds.
JD104822 - Sequence 85846 from Patent EP1572962.
JD185211 - Sequence 166235 from Patent EP1572962.
JD277800 - Sequence 258824 from Patent EP1572962.
AK290757 - Homo sapiens cDNA FLJ75107 complete cds, highly similar to Homo sapiens, FXYD domain-containing ion transport regulator 6.
LF376484 - JP 2014500723-A/183987: Polycomb-Associated Non-Coding RNAs.
JD479253 - Sequence 460277 from Patent EP1572962.
JD450458 - Sequence 431482 from Patent EP1572962.
JD258547 - Sequence 239571 from Patent EP1572962.
JD205200 - Sequence 186224 from Patent EP1572962.
JD246580 - Sequence 227604 from Patent EP1572962.
JD210842 - Sequence 191866 from Patent EP1572962.
LF376483 - JP 2014500723-A/183986: Polycomb-Associated Non-Coding RNAs.
JD106770 - Sequence 87794 from Patent EP1572962.
JD080685 - Sequence 61709 from Patent EP1572962.
JD233794 - Sequence 214818 from Patent EP1572962.
AK289629 - Homo sapiens cDNA FLJ78544 complete cds, highly similar to Homo sapiens FXYD domain containing ion transport regulator 6 (FXYD6), mRNA.
JD431688 - Sequence 412712 from Patent EP1572962.
JD039820 - Sequence 20844 from Patent EP1572962.
JD410451 - Sequence 391475 from Patent EP1572962.
JD297636 - Sequence 278660 from Patent EP1572962.
JD381797 - Sequence 362821 from Patent EP1572962.
JD394886 - Sequence 375910 from Patent EP1572962.
CR533457 - Homo sapiens full open reading frame cDNA clone RZPDo834H1016D for gene FXYD6, FXYD domain containing ion transport regulator 6; complete cds, incl. stopcodon.
LF376482 - JP 2014500723-A/183985: Polycomb-Associated Non-Coding RNAs.
AK311736 - Homo sapiens cDNA, FLJ18778.
BT006717 - Homo sapiens FXYD domain containing ion transport regulator 6 mRNA, complete cds.
DQ890638 - Synthetic construct clone IMAGE:100003268; FLH164669.01X; RZPDo839A06158D FXYD domain containing ion transport regulator 6 (FXYD6) gene, encodes complete protein.
DQ893814 - Synthetic construct Homo sapiens clone IMAGE:100008274; FLH164665.01L; RZPDo839A06157D FXYD domain containing ion transport regulator 6 (FXYD6) gene, encodes complete protein.
AM392911 - Synthetic construct Homo sapiens clone IMAGE:100001841 for hypothetical protein (FXYD6 gene).
AM393115 - Synthetic construct Homo sapiens clone IMAGE:100001829 for hypothetical protein (FXYD6 gene).
LF376481 - JP 2014500723-A/183984: Polycomb-Associated Non-Coding RNAs.
JD206461 - Sequence 187485 from Patent EP1572962.
MA444040 - JP 2018138019-A/15966: Polycomb-Associated Non-Coding RNAs.
MA612061 - JP 2018138019-A/183987: Polycomb-Associated Non-Coding RNAs.
MA612060 - JP 2018138019-A/183986: Polycomb-Associated Non-Coding RNAs.
MA612059 - JP 2018138019-A/183985: Polycomb-Associated Non-Coding RNAs.
MA612058 - JP 2018138019-A/183984: Polycomb-Associated Non-Coding RNAs.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9H0Q3 (Reactome details) participates in the following event(s):

R-HSA-936897 ATP1A:ATP1B:FXYD exchanges Na+ for K+
R-HSA-936837 Ion transport by P-type ATPases
R-HSA-5578775 Ion homeostasis
R-HSA-983712 Ion channel transport
R-HSA-5576891 Cardiac conduction
R-HSA-382551 Transport of small molecules
R-HSA-397014 Muscle contraction

-  Other Names for This Gene
  Alternate Gene Symbols: A8K0R4, ENST00000526014.1, ENST00000526014.2, ENST00000526014.3, ENST00000526014.4, ENST00000526014.5, FXYD6_HUMAN, J3QLD2, NM_022003, Q6FIG9, Q6UW52, Q9H0Q3, uc324bis.1, uc324bis.2, UNQ521/PRO1056
UCSC ID: ENST00000526014.6_8
RefSeq Accession: NM_022003.4
Protein: Q9H0Q3 (aka FXYD6_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.