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

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: mouse all
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Genomic context

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_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Downregulation of FXYD2 Is Associated with Poor Prognosis and Increased Regulatory T Cell Infiltration in Clear Cell Renal Cell Carcinoma.
Title: Downregulation of FXYD2 Is Associated with Poor Prognosis and Increased Regulatory T Cell Infiltration in Clear Cell Renal Cell Carcinoma.
FXYD2 is functionally upregulated in ovarian clear cell carcinoma and may serve as a promising prognostic biomarker and therapeutic target of cardiac glycosides in OCCC
Title: Targeting FXYD2 by cardiac glycosides potently blocks tumor growth in ovarian clear cell carcinoma.
Recurrent FXYD2 p.Gly41Arg mutation is associated with isolated dominant hypomagnesaemia.
Title: Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia.
FXYD2b could regulate the Na,K-ATPase by modulating the effective membrane surface electrostatics near the ion binding sites of the pump.
Title: Structure of the Na,K-ATPase regulatory protein FXYD2b in micelles: implications for membrane-water interfacial arginines.
our findings suggested that FXYD2c played a role in regulation of NKA activity by enhancing the expression of NKA in HK-2 cells upon hypertonic challenge.
Title: FXYD2c plays a potential role in modulating Na(+)/K (+)-ATPase activity in HK-2 cells upon hypertonic challenge.
PCBD1 (dimerization cofactor of HNF-1alpha) is coactivator of the HNF1B-mediated transcription necessary for fine tuning ATPase Na+/K+ transporting gamma 1 polypeptide (FXYD2) transcription in the distal convoluted tubule.
Title: Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.
This is the first report demonstrating the potential utility of FXYD2 immunohistochemistry in the diagnosis of chromophobe renal cell carcinoma
Title: Expression of the Na+/K+-transporting ATPase gamma subunit FXYD2 in renal tumors.
findings confirm the presence of an FXYD2 peptide in the crab gill Na,K-ATPase and demonstrate that this peptide plays an important role in regulating enzyme activity
Title: Identification of a crab gill FXYD2 protein and regulation of crab microsomal Na,K-ATPase activity by mammalian FXYD2 peptide.
wild type HNF1B specifically induces FXYD2A transcription whereas all HNF1B mutants partially prevented it.
Title: HNF-1B specifically regulates the transcription of the γa-subunit of the Na+/K+-ATPase.
Datab propose human FXYD2gammaa as a novel beta cell-specific biomarker.
Title: A genomic-based approach identifies FXYD domain containing ion transport regulator 2 (FXYD2)gammaa as a pancreatic beta cell-specific biomarker.

Submit: New GeneRIF Correction See all GeneRIFs (17)

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

Associated conditions

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

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

SGC33973 (e-PCR)
- UniSTS:44545

D11S4955 (e-PCR)
- UniSTS:6929

PMC156606P1 (e-PCR)
- UniSTS:271408

RH47007 (e-PCR)
- UniSTS:62045

D11S1998 (e-PCR), detects polymorphism
- UniSTS:13280

SHGC-132239 (e-PCR)
- UniSTS:170724

Readthrough FXYD6-FXYD2

Readthrough gene: FXYD6-FXYD2, Included gene: FXYD6

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

Process	Evidence Code	Pubs
involved_in establishment or maintenance of transmembrane electrochemical gradient	NAS Non-traceable Author Statement more info	PubMed
involved_in intracellular potassium ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in intracellular sodium ion homeostasis	ISO Inferred from Sequence Orthology more info
involved_in positive regulation of P-type sodium:potassium-exchanging transporter activity	ISS Inferred from Sequence or Structural Similarity more info
involved_in potassium ion import across plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in potassium ion import across plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in proton transmembrane transport	NAS Non-traceable Author Statement more info	PubMed
involved_in regulation of sodium ion transmembrane transporter activity	IBA Inferred from Biological aspect of Ancestor more info
involved_in sodium ion export across plasma membrane	ISO Inferred from Sequence Orthology more info
involved_in sodium ion export across plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in transmembrane transport	ISS Inferred from Sequence or Structural Similarity more info

Component	Evidence Code	Pubs
located_in extracellular exosome	HDA more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
part_of sodium:potassium-exchanging ATPase complex	IPI Inferred from Physical Interaction more info	PubMed
part_of sodium:potassium-exchanging ATPase complex	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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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)

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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

NG_011543.1 RefSeqGene

Range

8349..13036

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001680.5 → NP_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:14 → 59

ATP1G1_PLM_MAT8; ATP1G1/PLM/MAT8 family
NM_021603.4 → NP_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:12 → 57

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

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

117820057..117828089 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

117836469..117844497 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

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.