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    FXYD2 FXYD domain containing ion transport regulator 2 [ Homo sapiens (human) ]

    Gene ID: 486, updated on 2-Nov-2024

    Summary

    Official Symbol
    FXYD2provided by HGNC
    Official Full Name
    FXYD domain containing ion transport regulator 2provided by HGNC
    Primary source
    HGNC:HGNC:4026
    See related
    Ensembl:ENSG00000137731 MIM:601814; AllianceGenome:HGNC:4026
    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
    Also known as
    HOMG2; ATP1G1
    Summary
    This gene encodes a member of the FXYD family of transmembrane proteins. This particular protein encodes the sodium/potassium-transporting ATPase subunit gamma. Mutations in this gene have been associated with Renal Hypomagnesemia-2. Alternatively spliced transcript variants have been described. Read-through transcripts have been observed between this locus and the upstream FXYD domain-containing ion transport regulator 6 (FXYD6, GeneID 53826) locus.[provided by RefSeq, Feb 2011]
    Expression
    Biased expression in kidney (RPKM 585.7), gall bladder (RPKM 107.1) and 2 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See FXYD2 in Genome Data Viewer
    Location:
    11q23.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (117820057..117828089, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (117836469..117844497, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (117690772..117698804, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene centrosomal protein 164 Neighboring gene proline rich 13 pseudogene 3 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117252430-117252955 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117251903-117252429 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117253123-117253624 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117282701-117283213 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117290977-117291477 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117300124-117300802 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117300803-117301480 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117301481-117302158 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5571 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117308425-117309399 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:117313272-117314252 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117335195-117335696 Neighboring gene DS cell adhesion molecule like 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117353337-117353840 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117353841-117354343 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117360661-117361161 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117365669-117366170 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117382135-117383118 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117385871-117386470 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117392233-117393054 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117417610-117418130 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117418131-117418651 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117427703-117428575 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117428576-117429447 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117430072-117430572 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117430573-117431073 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117463869-117464660 Neighboring gene MPRA-validated peak1488 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117471363-117472111 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5572 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117482895-117483428 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117488029-117488528 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_chr11:117695753-117696305 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:117695199-117695752 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 6 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 transmembrane serine protease 13

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Renal hypomagnesemia 2
    MedGen: C1835171 OMIM: 154020 GeneReviews: Not available
    Compare labs

    Pathways from PubChem

    Interactions

    General gene information

    Readthrough FXYD6-FXYD2

    Readthrough gene: FXYD6-FXYD2, Included gene: FXYD6

    Clone Names

    • MGC12372

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATPase activator activity  
    enables protein binding PubMed 
    enables protein-macromolecule adaptor activity  
    enables sodium channel regulator activity  
    Component Evidence Code Pubs
    located_in extracellular exosome PubMed 
    located_in plasma membrane  
    part_of sodium:potassium-exchanging ATPase complex PubMed 
    part_of sodium:potassium-exchanging ATPase complex  

    General protein information

    Preferred Names
    sodium/potassium-transporting ATPase subunit gamma
    Names
    ATPase, Na+/K+ transporting, gamma 1 polypeptide
    Na(+)/K(+) ATPase subunit gamma
    sodium pump gamma chain

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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_011543.1 RefSeqGene

      Range
      8349..13036
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001680.5NP_001671.2  sodium/potassium-transporting ATPase subunit gamma isoform 1

      See identical proteins and their annotated locations for NP_001671.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (a) represents the most predominant transcript and encodes isoform 1.
      Source sequence(s)
      AA814197, AF241236, AP000757, BC013289
      Consensus CDS
      CCDS8386.1
      UniProtKB/Swiss-Prot
      P54710, Q15332, Q53YC1, Q9GZP3, Q9GZQ7
      Related
      ENSP00000292079.2, ENST00000292079.7
      Conserved Domains (1) summary
      pfam02038
      Location:1459
      ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
    2. NM_021603.4NP_067614.1  sodium/potassium-transporting ATPase subunit gamma isoform 2

      See identical proteins and their annotated locations for NP_067614.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (b) contains an alternate 5' terminal exon compared to transcript variant a, resulting in a slightly shorter isoform (2) with a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AA309757, AA814197, AF241236, AP000757, BC005302
      Consensus CDS
      CCDS8385.1
      UniProtKB/Swiss-Prot
      P54710
      Related
      ENSP00000260287.2, ENST00000260287.2
      Conserved Domains (1) summary
      pfam02038
      Location:1257
      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
      117820057..117828089 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      117836469..117844497 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

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