FXYD4 Gene (Protein Coding)

FXYD Domain Containing Ion Transport Regulator 4

GC10P043371
GIFtS:
35
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, ha... See more...

Aliases for FXYD4 Gene

Aliases for FXYD4 Gene

  • FXYD Domain Containing Ion Transport Regulator 4 2 3 5
  • FXYD Domain-Containing Ion Transport Regulator 4 2 3 4
  • CHIF 2 3
  • Channel-Inducing Factor 3
  • FXYD4 5

External Ids for FXYD4 Gene

Previous GeneCards Identifiers for FXYD4 Gene

  • GC00U990738
  • GC10M043337
  • GC10P043642
  • GC10P043151
  • GC10P043187
  • GC10P043867
  • GC10P040393

Summaries for FXYD4 Gene

Entrez Gene Summary for FXYD4 Gene

  • 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]

GeneCards Summary for FXYD4 Gene

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.

Additional gene information for FXYD4 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 FXYD4 Gene

Genomics for FXYD4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for FXYD4 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH10J043371 Promoter/Enhancer 1 EPDnew dbSUPER 250.7 0.0 -19 0.1 MNT BHLHE40 REST MAX VEZF1 NKRF RAD51 ATF4 L3MBTL2 HDAC1 FXYD4 piR-43939-004 ENSG00000230555 RASGEF1A
GH10J043372 Enhancer 0.6 Ensembl dbSUPER 250.7 +1.6 1565 1.2 ZIC2 PRDM10 GLIS1 SOX13 ZBTB20 FXYD4 HSALNG0077544 ENSG00000230555 HNRNPF
GH10J043370 Enhancer 0.5 dbSUPER 254.8 -0.8 -800 1.1 VEZF1 ATF4 CEBPB ATF1 ATF3 EGR2 RNF2 ZFHX2 CEBPG FXYD4 ENSG00000230555 piR-43939-004 RASGEF1A
GH10J043349 Enhancer 1.2 Ensembl ENCODE dbSUPER 13.1 -23.2 -23201 1.1 IRF2 CTCF ELF1 HOMEZ SIN3A REST HCFC1 VEZF1 NBN TRIM22 lnc-FXYD4-2 FXYD4 ENSG00000230555 ENSG00000285712 LOC107984226 piR-43103-010 HSALNG0077539 LOC105378271 RASGEF1A
GH10J043350 Promoter/Enhancer 0.9 FANTOM5 Ensembl dbSUPER 13.1 -20.7 -20715 0.6 ZBTB33 ZFP36 ENSG00000285712 LOC107984226 lnc-FXYD4-2 FXYD4 ENSG00000230555 RASGEF1A HSALNG0077539 lnc-FXYD4-8
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FXYD4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FXYD4

Top Transcription factor binding sites by QIAGEN in the FXYD4 gene promoter:
  • AREB6
  • En-1
  • GR
  • GR-alpha
  • GR-beta
  • Pax-4a
  • Pax-5
  • Pbx1a
  • PPAR-alpha
  • Spz1

Genomic Locations for FXYD4 Gene

Latest Assembly
chr10:43,371,636-43,376,335
(GRCh38/hg38)
Size:
4,700 bases
Orientation:
Plus strand

Previous Assembly
chr10:43,867,084-43,871,783
(GRCh37/hg19 by Entrez Gene)
Size:
4,700 bases
Orientation:
Plus strand

chr10:43,867,090-43,871,783
(GRCh37/hg19 by Ensembl)
Size:
4,694 bases
Orientation:
Plus strand

Genomic View for FXYD4 Gene

Genes around FXYD4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FXYD4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FXYD4 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for FXYD4 Gene

Proteins for FXYD4 Gene

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  • Protein details for FXYD4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P59646-FXYD4_HUMAN
    Recommended name:
    FXYD domain-containing ion transport regulator 4
    Protein Accession:
    P59646
    Secondary Accessions:
    • Q6UWZ1
    • Q7Z4M5

    Protein attributes for FXYD4 Gene

    Size:
    89 amino acids
    Molecular mass:
    9373 Da
    Quaternary structure:
    No Data Available

neXtProt entry for FXYD4 Gene

Post-translational modifications for FXYD4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FXYD4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FXYD4 Gene

Domains & Families for FXYD4 Gene

Gene Families for FXYD4 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for FXYD4 Gene

InterPro:
Blocks:
  • FXYD protein
ProtoNet:

Suggested Antigen Peptide Sequences for FXYD4 Gene

GenScript: Design optimal peptide antigens:
  • FXYD domain-containing ion transport regulator 4 (FXYD4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P59646

UniProtKB/Swiss-Prot:

FXYD4_HUMAN :
  • Belongs to the FXYD family.
Family:
  • Belongs to the FXYD family.
genes like me logo Genes that share domains with FXYD4: view

Function for FXYD4 Gene

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  6. Cell Lines for research

Phenotypes From GWAS Catalog for FXYD4 Gene

Gene Ontology (GO) - Molecular Function for FXYD4 Gene

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 --
genes like me logo Genes that share ontologies with FXYD4: view
genes like me logo Genes that share phenotypes with FXYD4: view

Animal Models for FXYD4 Gene

MGI Knock Outs for FXYD4:

Animal Models for research

  • Taconic Biosciences Mouse Models for FXYD4

miRNA for FXYD4 Gene

miRTarBase miRNAs that target FXYD4

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FXYD4

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FXYD4 Gene

Localization for FXYD4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FXYD4 Gene

Membrane. Single-pass type I 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 FXYD4 gene
Compartment Confidence
plasma membrane 4
extracellular 3
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for FXYD4 Gene

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 --
genes like me logo Genes that share ontologies with FXYD4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FXYD4 Gene

Pathways & Interactions for FXYD4 Gene

genes like me logo Genes that share pathways with FXYD4: view

Pathways by source for FXYD4 Gene

1 KEGG pathway for FXYD4 Gene

Interacting Proteins for FXYD4 Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 7)
STRING Interaction Network
Selected Interacting proteins: ENSP00000483791 P59646-FXYD4_HUMAN for FXYD4 Gene via STRING IID

GPS-Prot Interaction Network for FXYD4

Gene Ontology (GO) - Biological Process for FXYD4 Gene

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 --
genes like me logo Genes that share ontologies with FXYD4: view

No data available for SIGNOR curated interactions for FXYD4 Gene

Drugs & Compounds for FXYD4 Gene

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(1) Drugs for FXYD4 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for FXYD4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with FXYD4: view

Transcripts for FXYD4 Gene

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mRNA/cDNA for FXYD4 Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FXYD4

Alternative Splicing Database (ASD) splice patterns (SP) for FXYD4 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b
SP1:
SP2: -

Relevant External Links for FXYD4 Gene

GeneLoc Exon Structure for
FXYD4

Expression for FXYD4 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FXYD4 Gene

mRNA expression in normal human tissues for FXYD4 Gene
mRNA expression by GTEx for FXYD4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FXYD4 Gene

This gene is overexpressed in Kidney - Cortex (x42.4).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FXYD4

SOURCE GeneReport for Unigene cluster for FXYD4 Gene:

Hs.130497

Evidence on tissue expression from TISSUES for FXYD4 Gene

  • Kidney(4.7)
genes like me logo Genes that share expression patterns with FXYD4: view

Primer products for research

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FXYD4 Gene

Orthologs for FXYD4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FXYD4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia FXYD4 30 31
  • 98.88 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia FXYD4 30 31
  • 82.38 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia FXYD4 30
  • 78.1 (n)
Mouse
(Mus musculus)
 Mammalia Fxyd4 30 17 31
  • 75.49 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Fxyd4 30
  • 74.87 (n)
Oppossum
(Monodelphis domestica)
 Mammalia -- 31
  • 52 (a)
 OneToMany
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 31 (a)
 OneToMany
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 47 (a)
 OneToMany
Species where no ortholog for FXYD4 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)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • 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)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • 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 FXYD4 Gene

ENSEMBL:
Gene Tree for FXYD4 (if available)
TreeFam:
Gene Tree for FXYD4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FXYD4: view image

Paralogs for FXYD4 Gene

Paralogs for FXYD4 Gene

(1) SIMAP similar genes for FXYD4 Gene using alignment to 1 proteins:

  • FXYD4_HUMAN
genes like me logo Genes that share paralogs with FXYD4: view

Variants for FXYD4 Gene

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dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FXYD4 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for FXYD4 Gene

Variant ID Type Subtype PubMed ID
dgv728n100 CNV gain 25217958
nsv521283 CNV loss 19592680
nsv831842 CNV loss 17160897

Variation tolerance for FXYD4 Gene

Residual Variation Intolerance Score: 52.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.43; 54.59% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FXYD4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FXYD4

SNP Genotyping and Copy Number Assays for research

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 FXYD4 Gene

Disorders for FXYD4 Gene

MalaCards: The human disease database

(4) MalaCards diseases for FXYD4 Gene - From: CVR and COP

Disorder Aliases PubMed IDs
vater/vacterl association
  • vacterl/vater association
vacterl association
  • vater syndrome
deafness, autosomal recessive 33
  • dfnb33
adamantinous craniopharyngioma
  • adamantinous rathke's pouch tumor
- elite association - COSMIC cancer census association via MalaCards
Search FXYD4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FXYD4

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with FXYD4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FXYD4 Gene

Publications for FXYD4 Gene

  1. The FXYD gene family of small ion transport regulators or channels: cDNA sequence, protein signature sequence, and expression. (PMID: 10950925) Sweadner KJ … Rael E (Genomics 2000) 2 3 4 23
  2. FXYD proteins as regulators of the Na,K-ATPase in the kidney. (PMID: 12763854) Sweadner KJ … Wetzel RK (Annals of the New York Academy of Sciences 2003) 2 3 23
  3. The DNA sequence and comparative analysis of human chromosome 10. (PMID: 15164054) Deloukas P … Rogers J (Nature 2004) 3 4
  4. 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
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4

ExternalLinks

View latest publications for FXYD4 gene in Mastermind

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