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 fami... See more...

Aliases for FXYD7 Gene

Aliases for FXYD7 Gene

  • FXYD Domain Containing Ion Transport Regulator 7 2 3 5
  • FXYD Domain-Containing Ion Transport Regulator 7 2 3 4
  • FXYD7 5

External Ids for FXYD7 Gene

Previous GeneCards Identifiers for FXYD7 Gene

  • GC19P036251
  • GC19P036083
  • GC19P040310
  • GC19P040325
  • GC19P035634
  • GC19P032142

Summaries for FXYD7 Gene

Entrez Gene Summary for FXYD7 Gene

  • 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]

GeneCards Summary for FXYD7 Gene

FXYD7 (FXYD Domain Containing Ion Transport Regulator 7) is a Protein Coding gene. Diseases associated with FXYD7 include Lubs X-Linked Mental Retardation Syndrome and Primary Hypomagnesemia. Among its related pathways are Cardiac conduction and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include ion channel activity and sodium channel regulator activity. An important paralog of this gene is FXYD1.

Additional gene information for FXYD7 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FXYD7 Gene

Genomics for FXYD7 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FXYD7 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FXYD7 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FXYD7

Top Transcription factor binding sites by QIAGEN in the FXYD7 gene promoter:
  • AML1a

Genomic Locations for FXYD7 Gene

Genomic Locations for FXYD7 Gene
chr19:35,143,250-35,154,302
(GRCh38/hg38)
Size:
11,053 bases
Orientation:
Plus strand
chr19:35,634,154-35,645,205
(GRCh37/hg19)
Size:
11,052 bases
Orientation:
Plus strand

Genomic View for FXYD7 Gene

Genes around FXYD7 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FXYD7 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FXYD7 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FXYD7 Gene

Proteins for FXYD7 Gene

  • Protein details for FXYD7 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P58549-FXYD7_HUMAN
    Recommended name:
    FXYD domain-containing ion transport regulator 7
    Protein Accession:
    P58549

    Protein attributes for FXYD7 Gene

    Size:
    80 amino acids
    Molecular mass:
    8524 Da
    Quaternary structure:
    No Data Available

neXtProt entry for FXYD7 Gene

Post-translational modifications for FXYD7 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FXYD7 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FXYD7 Gene

Domains & Families for FXYD7 Gene

Gene Families for FXYD7 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for FXYD7 Gene

InterPro:
Blocks:
  • FXYD protein
ProtoNet:

Suggested Antigen Peptide Sequences for FXYD7 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ61688 (B4DK58_HUMAN)
  • FXYD domain-containing ion transport regulator 7 (FXYD7_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P58549

UniProtKB/Swiss-Prot:

FXYD7_HUMAN :
  • Belongs to the FXYD family.
Family:
  • Belongs to the FXYD family.
genes like me logo Genes that share domains with FXYD7: view

Function for FXYD7 Gene

Gene Ontology (GO) - Molecular Function for FXYD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0017080 sodium channel regulator activity IBA 21873635
GO:0051117 ATPase binding IEA --
GO:0099106 ion channel regulator activity IEA --
genes like me logo Genes that share ontologies with FXYD7: view
genes like me logo Genes that share phenotypes with FXYD7: view

Animal Models for FXYD7 Gene

MGI Knock Outs for FXYD7:
  • Fxyd7 Fxyd7<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FXYD7

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for FXYD7 Gene

Localization for FXYD7 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FXYD7 Gene

Membrane. Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FXYD7 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytosol 2
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for FXYD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with FXYD7: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FXYD7 Gene

Pathways & Interactions for FXYD7 Gene

genes like me logo Genes that share pathways with FXYD7: view

Pathways by source for FXYD7 Gene

Gene Ontology (GO) - Biological Process for FXYD7 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0034220 ion transmembrane transport TAS --
GO:0043269 regulation of ion transport IEA --
GO:1903779 regulation of cardiac conduction TAS --
GO:2000649 regulation of sodium ion transmembrane transporter activity IBA 21873635
genes like me logo Genes that share ontologies with FXYD7: view

No data available for SIGNOR curated interactions for FXYD7 Gene

Drugs & Compounds for FXYD7 Gene

No Compound Related Data Available

Transcripts for FXYD7 Gene

mRNA/cDNA for FXYD7 Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FXYD7

Alternative Splicing Database (ASD) splice patterns (SP) for FXYD7 Gene

No ASD Table

Relevant External Links for FXYD7 Gene

GeneLoc Exon Structure for
FXYD7

Expression for FXYD7 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FXYD7 Gene

mRNA differential expression in normal tissues according to GTEx for FXYD7 Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x7.8), Brain - Cortex (x7.7), Brain - Anterior cingulate cortex (BA24) (x6.3), Brain - Hippocampus (x5.9), Brain - Amygdala (x5.8), and Brain - Putamen (basal ganglia) (x4.5).

Protein differential expression in normal tissues from HIPED for FXYD7 Gene

This gene is overexpressed in Brain (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for FXYD7 Gene



Protein tissue co-expression partners for FXYD7 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FXYD7

SOURCE GeneReport for Unigene cluster for FXYD7 Gene:

Hs.134729

Evidence on tissue expression from TISSUES for FXYD7 Gene

  • Nervous system(2.7)
  • Muscle(2)
genes like me logo Genes that share expression patterns with FXYD7: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FXYD7 Gene

Orthologs for FXYD7 Gene

This gene was present in the common ancestor of mammals.

Orthologs for FXYD7 Gene

Organism Taxonomy Gene Similarity Type Details
Cow
(Bos Taurus)
Mammalia FXYD7 30 31
  • 89.47 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fxyd7 30
  • 86.25 (n)
Mouse
(Mus musculus)
Mammalia Fxyd7 30 17 31
  • 85.42 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia FXYD7 31
  • 66 (a)
OneToOne
Species where no ortholog for FXYD7 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for FXYD7 Gene

ENSEMBL:
Gene Tree for FXYD7 (if available)
TreeFam:
Gene Tree for FXYD7 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FXYD7: view image

Paralogs for FXYD7 Gene

Paralogs for FXYD7 Gene

(5) SIMAP similar genes for FXYD7 Gene using alignment to 3 proteins:

  • FXYD7_HUMAN
  • K7EKU3_HUMAN
  • K7ENE8_HUMAN
genes like me logo Genes that share paralogs with FXYD7: view

Variants for FXYD7 Gene

Additional dbSNP identifiers (rs#s) for FXYD7 Gene

Structural Variations from Database of Genomic Variants (DGV) for FXYD7 Gene

Variant ID Type Subtype PubMed ID
nsv953282 CNV deletion 24416366

Variation tolerance for FXYD7 Gene

Residual Variation Intolerance Score: 67.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.17; 75.84% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FXYD7 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FXYD7

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FXYD7 Gene

Disorders for FXYD7 Gene

MalaCards: The human disease database

(2) MalaCards diseases for FXYD7 Gene - From: DISEASES

Disorder Aliases PubMed IDs
lubs x-linked mental retardation syndrome
  • mrxsl
primary hypomagnesemia
  • hypomagnesemia 1, intestinal
- elite association - COSMIC cancer census association via MalaCards
Search FXYD7 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FXYD7

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with FXYD7: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FXYD7 Gene

Publications for FXYD7 Gene

  1. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  3. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  4. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T … Vidal M (Cell 2014) 3
  5. Intracellular trafficking of FXYD1 (phospholemman) and FXYD7 proteins in Xenopus oocytes and mammalian cells. (PMID: 22535957) Moshitzky S … Garty H (The Journal of biological chemistry 2012) 3

Products for FXYD7 Gene

Sources for FXYD7 Gene