Format

Send to:

Choose Destination

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

Gene ID: 486, updated on 18-Aug-2020

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
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

Genomic context

See FXYD2 in Genome Data Viewer
Location:
11q23.3
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200815 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (117820057..117828089, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (117690790..117699408, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene DS cell adhesion molecule like 1 Neighboring gene uncharacterized LOC105369515 Neighboring gene uncharacterized LOC107984394 Neighboring gene FXYD6-FXYD2 readthrough Neighboring gene FXYD domain containing ion transport regulator 6 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

Homology

Clone Names

  • MGC12372

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ion channel regulator activity IEA
Inferred from Electronic Annotation
more info
 
sodium channel regulator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sodium:potassium-exchanging ATPase activity TAS
Traceable Author Statement
more info
PubMed 
transporter activity TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
establishment or maintenance of transmembrane electrochemical gradient IEA
Inferred from Electronic Annotation
more info
 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
potassium ion import across plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of cardiac conduction TAS
Traceable Author Statement
more info
 
regulation of sodium ion transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sodium ion export across plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
transmembrane transport ISS
Inferred from Sequence or Structural Similarity
more info
 
Component Evidence Code Pubs
extracellular exosome HDA PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
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)

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
    5004..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
    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: Homo sapiens Updated Annotation Release 109.20200815

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    117820057..117828089 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.
Support Center