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FXYD6 FXYD domain containing ion transport regulator 6 [ Homo sapiens (human) ]

Gene ID: 53826, updated on 27-Nov-2024

Summary

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Official Symbol
FXYD6provided by HGNC
Official Full Name
FXYD domain containing ion transport regulator 6provided by HGNC
Primary source
HGNC:HGNC:4030
See related
Ensembl:ENSG00000137726 MIM:606683; AllianceGenome:HGNC:4030
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 gene encodes a member of the FXYD family of transmembrane proteins. This particular protein encodes phosphohippolin, which likely affects the activity of Na,K-ATPase. Multiple alternatively spliced transcript variants encoding the same protein have been described. Related pseudogenes have been identified on chromosomes 10 and X. Read-through transcripts have been observed between this locus and the downstream sodium/potassium-transporting ATPase subunit gamma (FXYD2, GeneID 486) locus.[provided by RefSeq, Feb 2011]
Expression
Broad expression in brain (RPKM 186.7), ovary (RPKM 91.7) and 16 other tissues See more
Orthologs
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Genomic context

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See FXYD6 in Genome Data Viewer
Location:
11q23.3
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (117836981..117877430, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (117853389..117893827, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (117707696..117748145, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene DS cell adhesion molecule like 1 Neighboring gene uncharacterized LOC105369515 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117533497-117534182 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117539691-117540527 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:117549982-117550688 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:117550689-117551396 Neighboring gene NANOG hESC enhancer GRCh37_chr11:117594511-117595039 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117629849-117630350 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117630351-117630850 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117651403-117651902 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5573 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5574 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:117684525-117685102 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5575 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117689832-117690566 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117690567-117691301 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117692983-117693536 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117695199-117695752 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117695753-117696305 Neighboring gene FXYD6-FXYD2 readthrough Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:117712427-117713626 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117726457-117726957 Neighboring gene FXYD6 antisense RNA 1 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:117738498-117739697 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr11:117740007-117740526 Neighboring gene Sharpr-MPRA regulatory region 1172 Neighboring gene FXYD domain containing ion transport regulator 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117778029-117778529 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117784655-117785647 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3939 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5577 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:117802800-117803339 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117803340-117803878 Neighboring gene transmembrane serine protease 13 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_19102 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:117843533-117843947 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_19132 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5579 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3940 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3941 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5580 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_19171 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117869597-117870098 Neighboring gene interleukin 10 receptor subunit alpha

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Identification of FXYD6 as the novel biomarker for glioma based on differential expression and DNA methylation. Hou W, et al. Cancer Med, 2023 Dec. PMID 38093622, Free PMC Article
  2. A genetic association study of chromosome 11q22-24 in two different samples implicates the FXYD6 gene, encoding phosphohippolin, in susceptibility to schizophrenia. Choudhury K, et al. Am J Hum Genet, 2007 Apr. PMID 17357072, Free PMC Article
  3. A genetic association study of the FXYD domain containing ion transport regulator 6 (FXYD6) gene, encoding phosphohippolin, in susceptibility to schizophrenia in a Japanese population. Ito Y, et al. Neurosci Lett, 2008 Jun 13. PMID 18455306
  4. No association between the FXYD6 gene and schizophrenia in the Chinese Han population. Zhang J, et al. J Psychiatr Res, 2010 Apr. PMID 20149392
  5. FXYD6: a novel therapeutic target toward hepatocellular carcinoma. Gao Q, et al. Protein Cell, 2014 Jul. PMID 24715268, Free PMC Article

See all (33) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Identification of FXYD6 as the novel biomarker for glioma based on differential expression and DNA methylation.
    Title: Identification of FXYD6 as the novel biomarker for glioma based on differential expression and DNA methylation.
  2. FXYD protein isoforms differentially modulate human Na/K pump function.
    Title: FXYD protein isoforms differentially modulate human Na/K pump function.
  3. FXYD6 was verified to be directly interacting with miR-137..
    Title: MicroRNA-137 is downregulated in human osteosarcoma and regulates cell proliferation and migration through targeting FXYD6.
  4. FXYD6 plays a critical role of in hepatocellular carcinoma disease progression.
    Title: FXYD6: a novel therapeutic target toward hepatocellular carcinoma.
  5. FXYD6 gene might play an important role in schizophrenia susceptibility.
    Title: [A family-based association study of FXYD6 gene polymorphisms and schizophrenia].
  6. these results support that FXYD6 is a susceptibility gene of schizophrenia.
    Title: A novel replicated association between FXYD6 gene and schizophrenia.
  7. Data show that FXYD6 does not play a role in schizophrenia in the Chinese Han population.
    Title: No association between the FXYD6 gene and schizophrenia in the Chinese Han population.
  8. Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
    Title: Failure to confirm genetic association of the FXYD6 gene with schizophrenia: the Japanese population and meta-analysis.
  9. Our findings suggest that FXYD6 is unlikely to be related to the development of schizophrenia in a Japanese population.
    Title: A genetic association study of the FXYD domain containing ion transport regulator 6 (FXYD6) gene, encoding phosphohippolin, in susceptibility to schizophrenia in a Japanese population.
  10. Observational study of gene-disease association. (HuGE Navigator)
    Title: No association between the FXYD6 gene and schizophrenia in the Chinese Han population.
Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
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 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 sodium ion transport IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in glutamatergic synapse IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
located_in postsynaptic membrane IEA
Inferred from Electronic Annotation
more info
  
located_in presynaptic membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
FXYD domain-containing ion transport regulator 6
Names
phosphohippolin

NCBI Reference Sequences (RefSeq)

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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.

Genomic

  1. NG_013071.1 RefSeqGene

    Range
    5773..45450
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001164831.3 → NP_001158303.1  FXYD domain-containing ion transport regulator 6 precursor

    See identical proteins and their annotated locations for NP_001158303.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1. All variants encode the same protein.
    Source sequence(s)
    AL832811, AP000757, DA131017
    Consensus CDS
    CCDS8387.1
    UniProtKB/Swiss-Prot
    A8K0R4, J3QLD2, Q6FIG9, Q6UW52, Q9H0Q3
    UniProtKB/TrEMBL
    E9PJ02
    Related
    ENSP00000431446.1, ENST00000527717.5
    Conserved Domains (1) summary
    pfam02038
    Location:25 → 70
    ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family

  2. NM_001164832.3 → NP_001158304.1  FXYD domain-containing ion transport regulator 6 precursor

    See identical proteins and their annotated locations for NP_001158304.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1. All variants encode the same protein.
    Source sequence(s)
    AP000757
    Consensus CDS
    CCDS8387.1
    UniProtKB/Swiss-Prot
    A8K0R4, J3QLD2, Q6FIG9, Q6UW52, Q9H0Q3
    UniProtKB/TrEMBL
    E9PJ02
    Related
    ENSP00000463158.1, ENST00000530956.6
    Conserved Domains (1) summary
    pfam02038
    Location:25 → 70
    ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family

  3. NM_001164836.3 → NP_001158308.1  FXYD domain-containing ion transport regulator 6 precursor

    See identical proteins and their annotated locations for NP_001158308.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1. All variants encode the same protein.
    Source sequence(s)
    AK290757, AP000757
    Consensus CDS
    CCDS8387.1
    UniProtKB/Swiss-Prot
    A8K0R4, J3QLD2, Q6FIG9, Q6UW52, Q9H0Q3
    UniProtKB/TrEMBL
    E9PJ02
    Related
    ENSP00000260282.4, ENST00000260282.8
    Conserved Domains (1) summary
    pfam02038
    Location:25 → 70
    ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family

  4. NM_001164837.3 → NP_001158309.1  FXYD domain-containing ion transport regulator 6 precursor

    See identical proteins and their annotated locations for NP_001158309.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, compared to variant 1. All variants encode the same protein.
    Source sequence(s)
    AK290757, AL832811, AP000757
    Consensus CDS
    CCDS8387.1
    UniProtKB/Swiss-Prot
    A8K0R4, J3QLD2, Q6FIG9, Q6UW52, Q9H0Q3
    UniProtKB/TrEMBL
    E9PJ02
    Related
    ENSP00000442756.1, ENST00000539526.5
    Conserved Domains (1) summary
    pfam02038
    Location:25 → 70
    ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family

  5. NM_022003.4 → NP_071286.1  FXYD domain-containing ion transport regulator 6 precursor

    See identical proteins and their annotated locations for NP_071286.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the functional protein. All variants encode the same protein.
    Source sequence(s)
    AK289629, AK290757, AL832811, AP000757
    Consensus CDS
    CCDS8387.1
    UniProtKB/Swiss-Prot
    A8K0R4, J3QLD2, Q6FIG9, Q6UW52, Q9H0Q3
    UniProtKB/TrEMBL
    E9PJ02
    Related
    ENSP00000433312.1, ENST00000526014.6
    Conserved Domains (1) summary
    pfam02038
    Location:25 → 70
    ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family

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_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    117836981..117877430 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    117853389..117893827 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H0Q3.1 GenPept UniProtKB/Swiss-Prot:Q9H0Q3

Gene LinkOut

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

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