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FXYD7 FXYD domain containing ion transport regulator 7 [ Homo sapiens (human) ]

Gene ID: 53822, updated on 3-May-2025
Official Symbol
FXYD7provided by HGNC
Official Full Name
FXYD domain containing ion transport regulator 7provided by HGNC
Primary source
HGNC:HGNC:4034
See related
Ensembl:ENSG00000221946 MIM:606684; AllianceGenome:HGNC:4034
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This reference sequence was derived from multiple replicate ESTs and validated by similar human genomic sequence. 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. Transmembrane topology has been established for two family members (FXYD1 and FXYD2), with the N-terminus extracellular and the C-terminus on the cytoplasmic side of the membrane. FXYD2, also known as the gamma subunit of the Na,K-ATPase, regulates the properties of that enzyme. FXYD1 (phospholemman), FXYD2 (gamma), FXYD3 (MAT-8), FXYD4 (CHIF), and FXYD5 (RIC) have been shown to induce channel activity in experimental expression systems. This gene product, FXYD7, is novel and has not been characterized as a protein. [RefSeq curation by Kathleen J. Sweadner, Ph.D., sweadner@helix.mgh.harvard.edu., Dec 2000]
Expression
Biased expression in brain (RPKM 25.1) and spleen (RPKM 0.7) See more
Orthologs
mouse all
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See FXYD7 in Genome Data Viewer
Location:
19q13.12
Exon count:
6
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 19 NC_000019.10 (35143255..35154302)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 19 NC_060943.1 (37687602..37698927)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (35634159..35645205)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene leucine rich repeat LGI family member 4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:35632134-35632696 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:35633820-35634380 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr19:35634381-35634942 Neighboring gene FXYD domain containing ion transport regulator 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:35642007-35642406 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr19:35643105-35643656 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:35644606-35645470 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14457 Neighboring gene FXYD domain containing ion transport regulator 5 Neighboring gene ReSE screen-validated silencer GRCh37_chr19:35666754-35666910 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr19:35693985-35694502 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:35694503-35695020 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:35695021-35695538 Neighboring gene uncharacterized LOC105372379 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14458 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr19:35702580-35703391 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14459 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 14460

Go to nucleotide: Graphics FASTA GenBank

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Related articles in PubMed

  1. Intracellular trafficking of FXYD1 (phospholemman) and FXYD7 proteins in Xenopus oocytes and mammalian cells. Moshitzky S, et al. J Biol Chem, 2012 Jun 15. PMID 22535957, Free PMC Article
  2. Regulation of interferon-induced protein kinase PKR: modulation of P58IPK inhibitory function by a novel protein, P52rIPK. Gale M Jr, et al. Mol Cell Biol, 1998 Feb. PMID 9447982, Free PMC Article
  3. FXYD7 is a brain-specific regulator of Na,K-ATPase alpha 1-beta isozymes. Béguin P, et al. EMBO J, 2002 Jul 1. PMID 12093728, Free PMC Article
  4. The FXYD gene family of small ion transport regulators or channels: cDNA sequence, protein signature sequence, and expression. Sweadner KJ, et al. Genomics, 2000 Aug 15. PMID 10950925
  5. Interactome mapping suggests new mechanistic details underlying Alzheimer's disease. Soler-López M, et al. Genome Res, 2011 Mar. PMID 21163940, Free PMC Article

See all (12) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Intracellular trafficking of FXYD1 (phospholemman) and FXYD7 proteins in Xenopus oocytes and mammalian cells.
    Title: Intracellular trafficking of FXYD1 (phospholemman) and FXYD7 proteins in Xenopus oocytes and mammalian cells.
  2. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
    Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
  3. Observational study of gene-disease association. (HuGE Navigator)
    Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Submit: New GeneRIF Correction

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Products Interactant Other Gene Complex Source Pubs Description

Homology

Clone Names

  • FLJ25096

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATPase binding IEA
Inferred from Electronic Annotation
more info
  
enables ion channel regulator activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables sodium channel regulator activity IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in monoatomic ion transport IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of sodium ion export across plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in potassium ion transport IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of monoatomic ion transport IEA
Inferred from Electronic Annotation
more info
  
involved_in sodium ion transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
Preferred Names
FXYD domain-containing ion transport regulator 7

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_022006.2 → NP_071289.1  FXYD domain-containing ion transport regulator 7

    See identical proteins and their annotated locations for NP_071289.1

    Status: REVIEWED

    Source sequence(s)
    AC020907
    Consensus CDS
    CCDS12446.1
    UniProtKB/Swiss-Prot
    P58549
    Related
    ENSP00000270310.2, ENST00000270310.7
    Conserved Domains (1) summary
    cd20325
    Location:12 → 62
    FXYD7; FXYD domain-containing ion transport regulator 7

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p14 Primary Assembly

    Range
    35143255..35154302
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060943.1 Alternate T2T-CHM13v2.0

    Range
    37687602..37698927
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054321225.1 → XP_054177200.1  FXYD domain-containing ion transport regulator 7 isoform X1

    UniProtKB/Swiss-Prot
    P58549
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P58549.1 GenPept UniProtKB/Swiss-Prot:P58549

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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