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

Gene ID: 486, updated on 23-Nov-2023

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
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Genomic context

See FXYD2 in Genome Data Viewer
Location:
11q23.3
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (117820057..117828089, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (117836469..117844497, complement)
105.20220307 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
  • 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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 ISS
Inferred from Sequence or Structural Similarity
more info
 
enables protein-macromolecule adaptor activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables sodium channel regulator activity IBA
Inferred from Biological aspect of Ancestor
more info
 
Component Evidence Code Pubs
located_in extracellular exosome HDA PubMed 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
part_of sodium:potassium-exchanging ATPase complex ISO
Inferred from Sequence Orthology
more info
 
part_of sodium:potassium-exchanging ATPase complex ISS
Inferred from Sequence or Structural Similarity
more info
 

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_2023_10

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)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001127489.1: Suppressed sequence

    Description
    NM_001127489.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.