This locus represents naturally occurring read-through transcription between the neighboring FXYD domain-containing ion transport regulator 6 (GeneID 53826) and sodium/potassium-transporting ATPase subunit gamma (GeneID 486) genes on chromosome 11. One read-through transcript produces a fusion protein that shares sequence identity with each individual gene product, while anothe... See more...

Aliases for FXYD6-FXYD2 Gene

Aliases for FXYD6-FXYD2 Gene

  • FXYD6-FXYD2 Readthrough 2 3 5
  • FXYD Domain-Containing Ion Transport Regulator 6 3
  • FXYD Domain-Containing Ion Transport Regulator 13
  • FXYD6-FXYD2 Read-Through Protein 3
  • Phosphohippolin 3
  • FXYD6-FXYD2 5
  • FXYD6 3

External Ids for FXYD6-FXYD2 Gene

Previous GeneCards Identifiers for FXYD6-FXYD2 Gene

  • GC11U901831
  • GC11M117691

Summaries for FXYD6-FXYD2 Gene

Entrez Gene Summary for FXYD6-FXYD2 Gene

  • This locus represents naturally occurring read-through transcription between the neighboring FXYD domain-containing ion transport regulator 6 (GeneID 53826) and sodium/potassium-transporting ATPase subunit gamma (GeneID 486) genes on chromosome 11. One read-through transcript produces a fusion protein that shares sequence identity with each individual gene product, while another read-through transcript encodes a protein that has a distinct C-terminus and only shares sequence identity with the upstream locus (GeneID 53826). [provided by RefSeq, Aug 2011]

GeneCards Summary for FXYD6-FXYD2 Gene

FXYD6-FXYD2 (FXYD6-FXYD2 Readthrough) is a Protein Coding gene. Diseases associated with FXYD6-FXYD2 include Hypomagnesemia 2, Renal. Gene Ontology (GO) annotations related to this gene include ion channel activity. An important paralog of this gene is FXYD2.

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FXYD6-FXYD2 Gene

Genomics for FXYD6-FXYD2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FXYD6-FXYD2 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 FXYD6-FXYD2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FXYD6-FXYD2

Genomic Locations for FXYD6-FXYD2 Gene

Latest Assembly
chr11:117,820,057-117,876,667
(GRCh38/hg38)
Size:
56,611 bases
Orientation:
Minus strand

Previous Assembly
chr11:117,690,772-117,747,373
(GRCh37/hg19 by Entrez Gene)
Size:
56,602 bases
Orientation:
Minus strand

chr11:117,690,878-117,747,382
(GRCh37/hg19 by Ensembl)
Size:
56,505 bases
Orientation:
Minus strand

Genomic View for FXYD6-FXYD2 Gene

Genes around FXYD6-FXYD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FXYD6-FXYD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FXYD6-FXYD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FXYD6-FXYD2 Gene

Proteins for FXYD6-FXYD2 Gene

  • Protein details for FXYD6-FXYD2 Gene (UniProtKB/TrEMBL)

    Protein Symbol:
    A0A087WZ82-A0A087WZ82_HUMAN
    Recommended name:
    FXYD domain-containing ion transport regulator
    Protein Accession:
    A0A087WZ82

    Protein attributes for FXYD6-FXYD2 Gene

    Size:
    144 amino acids
    Molecular mass:
    16258 Da
    Quaternary structure:
    No Data Available
  • Protein details for FXYD6-FXYD2 Gene (UniProtKB/TrEMBL)

    Protein Symbol:
    A0A0A6YYL5-A0A0A6YYL5_HUMAN
    Recommended name:
    FXYD domain-containing ion transport regulator
    Protein Accession:
    A0A0A6YYL5

    Protein attributes for FXYD6-FXYD2 Gene

    Size:
    112 amino acids
    Molecular mass:
    12769 Da
    Quaternary structure:
    No Data Available

neXtProt entry for FXYD6-FXYD2 Gene

Post-translational modifications for FXYD6-FXYD2 Gene

No Post-translational modifications

Other Protein References for FXYD6-FXYD2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FXYD6-FXYD2 Gene

Domains & Families for FXYD6-FXYD2 Gene

Gene Families for FXYD6-FXYD2 Gene

Unknown:
  • Belongs to the FXYD family.
  • Belongs to the FXYD family.
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for FXYD6-FXYD2 Gene

genes like me logo Genes that share domains with FXYD6-FXYD2: view

No data available for Suggested Antigen Peptide Sequences , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for FXYD6-FXYD2 Gene

Function for FXYD6-FXYD2 Gene

Phenotypes From GWAS Catalog for FXYD6-FXYD2 Gene

Gene Ontology (GO) - Molecular Function for FXYD6-FXYD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0099106 ion channel regulator activity IEA --
genes like me logo Genes that share ontologies with FXYD6-FXYD2: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FXYD6-FXYD2

No data available for Molecular function , Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FXYD6-FXYD2 Gene

Localization for FXYD6-FXYD2 Gene

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear membrane (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FXYD6-FXYD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with FXYD6-FXYD2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from COMPARTMENTS for FXYD6-FXYD2 Gene

Pathways & Interactions for FXYD6-FXYD2 Gene

PathCards logo

SuperPathways for FXYD6-FXYD2 Gene

No Data Available

Interacting Proteins for FXYD6-FXYD2 Gene

Gene Ontology (GO) - Biological Process for FXYD6-FXYD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0043269 regulation of ion transport IEA --
genes like me logo Genes that share ontologies with FXYD6-FXYD2: view

No data available for Pathways by source and SIGNOR curated interactions for FXYD6-FXYD2 Gene

Drugs & Compounds for FXYD6-FXYD2 Gene

No Compound Related Data Available

Transcripts for FXYD6-FXYD2 Gene

mRNA/cDNA for FXYD6-FXYD2 Gene

2 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
2 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 FXYD6-FXYD2

Alternative Splicing Database (ASD) splice patterns (SP) for FXYD6-FXYD2 Gene

No ASD Table

Relevant External Links for FXYD6-FXYD2 Gene

GeneLoc Exon Structure for
FXYD6-FXYD2

Expression for FXYD6-FXYD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FXYD6-FXYD2 Gene

genes like me logo Genes that share expression patterns with FXYD6-FXYD2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for FXYD6-FXYD2 Gene

Orthologs for FXYD6-FXYD2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FXYD6-FXYD2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FXYD6 30
  • 66 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia FXYD6 30
  • 60 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 57 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Fxyd6 30
  • 57 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 56 (a)
OneToMany
Dog
(Canis familiaris)
Mammalia FXYD6 30
  • 51 (a)
OneToMany
Chicken
(Gallus gallus)
Aves FXYD6 30
  • 49 (a)
OneToMany
Zebrafish
(Danio rerio)
Actinopterygii fxyd6 30
  • 41 (a)
OneToMany
Species where no ortholog for FXYD6-FXYD2 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)
  • 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)
  • Lizard (Anolis carolinensis)
  • 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)
  • Rat (Rattus norvegicus)
  • 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)

Evolution for FXYD6-FXYD2 Gene

ENSEMBL:
Gene Tree for FXYD6-FXYD2 (if available)
TreeFam:
Gene Tree for FXYD6-FXYD2 (if available)
Alliance of Genome Resources:
Additional Orthologs for FXYD6-FXYD2

Paralogs for FXYD6-FXYD2 Gene

Paralogs for FXYD6-FXYD2 Gene

genes like me logo Genes that share paralogs with FXYD6-FXYD2: view

Variants for FXYD6-FXYD2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FXYD6-FXYD2 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
878676 Uncertain Significance: Renal hypomagnesemia 2 117,820,230(-) T/C
NM_001680.5(FXYD2):c.*149A>G
THREE_PRIME_UTR
879279 Benign: Renal hypomagnesemia 2 117,822,455(-) G/A
NM_001680.5(FXYD2):c.90C>T (p.Gly30=)
SYNONYMOUS_VARIANT,INTRON
880461 Uncertain Significance: Renal hypomagnesemia 2 117,822,707(-) G/C
NM_001680.5(FXYD2):c.36C>G (p.Pro12=)
MISSENSE_VARIANT,SYNONYMOUS
rs114952534 Benign: Renal hypomagnesemia 2 117,820,301(-) G/T
NM_001680.5(FXYD2):c.*78C>A
THREE_PRIME_UTR
rs11827585 Benign: Renal hypomagnesemia 2 117,820,660(-) G/T
NM_001680.5(FXYD2):c.6+6C>A
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FXYD6-FXYD2 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 FXYD6-FXYD2 Gene

Variant ID Type Subtype PubMed ID
esv2761714 CNV loss 21179565
esv3627861 CNV loss 21293372
nsv517470 CNV loss 19592680
nsv526267 CNV loss 19592680
nsv556460 CNV gain 21841781

Variation tolerance for FXYD6-FXYD2 Gene

Residual Variation Intolerance Score: 79.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.04; 21.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FXYD6-FXYD2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FXYD6-FXYD2
Leiden Open Variation Database (LOVD)
FXYD6-FXYD2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FXYD6-FXYD2 Gene

Disorders for FXYD6-FXYD2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for FXYD6-FXYD2 Gene - From: CVR

Disorder Aliases PubMed IDs
hypomagnesemia 2, renal
  • homg2
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for FXYD6-FXYD2

genes like me logo Genes that share disorders with FXYD6-FXYD2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FXYD6-FXYD2 Gene

Publications for FXYD6-FXYD2 Gene

  1. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  2. Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia. (PMID: 25765846) de Baaij JH … Knoers NV (Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2015) 72
  3. Expression of conjoined genes: another mechanism for gene regulation in eukaryotes. (PMID: 20967262) Prakash T … Taylor TD (PloS one 2010) 3
  4. Human chromosome 11 DNA sequence and analysis including novel gene identification. (PMID: 16554811) Taylor TD … Sakaki Y (Nature 2006) 13
  5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K … Sugano S (Genome research 2006) 3

Products for FXYD6-FXYD2 Gene

Sources for FXYD6-FXYD2 Gene