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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
    mouse all
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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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