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MRS2 magnesium transporter MRS2 [ Homo sapiens (human) ]

Gene ID: 57380, updated on 27-Nov-2024

Summary

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Official Symbol
MRS2provided by HGNC
Official Full Name
magnesium transporter MRS2provided by HGNC
Primary source
HGNC:HGNC:13785
See related
Ensembl:ENSG00000124532 MIM:619307; AllianceGenome:HGNC:13785
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
HPT; MRS2L
Summary
Enables magnesium ion transmembrane transporter activity. Involved in mitochondrial magnesium ion transmembrane transport. Located in mitochondrion. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in heart (RPKM 8.7), thyroid (RPKM 7.9) and 25 other tissues See more
Orthologs
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Genomic context

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See MRS2 in Genome Data Viewer
Location:
6p22.3
Exon count:
12
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (24402936..24426190)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (24272971..24296223)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (24403164..24426418)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene doublecortin domain containing 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:24360012-24360600 Neighboring gene RNA, U6 small nuclear 391, pseudogene Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:24400121-24400856 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:24400857-24401592 Neighboring gene Sharpr-MPRA regulatory region 326 Neighboring gene kidney associated DCDC2 antisense RNA 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:24403801-24404535 Neighboring gene MPRA-validated peak5733 silencer Neighboring gene glycosylphosphatidylinositol specific phospholipase D1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16989 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16990 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24152 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24153 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16991 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16992 Neighboring gene aldehyde dehydrogenase 5 family member A1 Neighboring gene uncharacterized LOC124901277 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:24538795-24539994 Neighboring gene NANOG hESC enhancer GRCh37_chr6:24547459-24547981 Neighboring gene KIAA0319 Neighboring gene MPRA-validated peak5735 silencer Neighboring gene keratin 8 pseudogene 43

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. Mitochondrial Mg(2+) homeostasis decides cellular energy metabolism and vulnerability to stress. Yamanaka R, et al. Sci Rep, 2016 Jul 26. PMID 27458051, Free PMC Article
  2. Cryo-EM structures of human magnesium channel MRS2 reveal gating and regulatory mechanisms. Lai LTF, et al. Nat Commun, 2023 Nov 8. PMID 37938562, Free PMC Article
  3. Molecular basis of Mg(2+) permeation through the human mitochondrial Mrs2 channel. Li M, et al. Nat Commun, 2023 Aug 5. PMID 37543649, Free PMC Article
  4. The human MRS2 magnesium-binding domain is a regulatory feedback switch for channel activity. Uthayabalan S, et al. Life Sci Alliance, 2023 Apr. PMID 36754568, Free PMC Article
  5. MRS2 missense variation at Asp216 abrogates inhibitory Mg(2+) binding, potentiating cell migration and apoptosis resistance. Uthayabalan S, et al. Protein Sci, 2024 Aug. PMID 38989547, Free PMC Article

See all (42) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. MRS2 missense variation at Asp216 abrogates inhibitory Mg[2+] binding, potentiating cell migration and apoptosis resistance.
    Title: MRS2 missense variation at Asp216 abrogates inhibitory Mg(2+) binding, potentiating cell migration and apoptosis resistance.
  2. Mrs2-mediated mitochondrial magnesium uptake is essential for the regulation of MCU-mediated mitochondrial Ca[2+] uptake and viability.
    Title: Mrs2-mediated mitochondrial magnesium uptake is essential for the regulation of MCU-mediated mitochondrial Ca(2+) uptake and viability.
  3. Cryo-EM structures of human magnesium channel MRS2 reveal gating and regulatory mechanisms.
    Title: Cryo-EM structures of human magnesium channel MRS2 reveal gating and regulatory mechanisms.
  4. Molecular basis of Mg[2+] permeation through the human mitochondrial Mrs2 channel.
    Title: Molecular basis of Mg(2+) permeation through the human mitochondrial Mrs2 channel.
  5. The human MRS2 magnesium-binding domain is a regulatory feedback switch for channel activity.
    Title: The human MRS2 magnesium-binding domain is a regulatory feedback switch for channel activity.
  6. The results indicate regulation of mitochondrial Mg(2+) via MRS2 critically decides cellular energy status and cell vulnerability via regulation of mitochondrial Mg(2+) level in response to physiological stimuli.
    Title: Mitochondrial Mg(2+) homeostasis decides cellular energy metabolism and vulnerability to stress.
  7. Observational study of gene-disease association. (HuGE Navigator)
    Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
  8. By enhanced hsaMrs2p expression, p27 was downregulated whereas cyclinD1 was upregulatedin gastric cancer.
    Title: Human mitochondrial Mrs2 protein promotes multidrug resistance in gastric cancer cells by regulating p27, cyclin D1 expression and cytochrome C release.
  9. Multidrug resistance phenotypes is related to MRS2 mitochondrial magnesium channel.
    Title: Multidrug resistance phenotypes and MRS2 mitochondrial magnesium channel: two players from one stemness?
  10. hMrs2 is the major transport protein for Mg (+) uptake into mitochondria and that expression of hMrs2 is essential for the maintenance of respiratory complex I and cell viability.
    Title: Conditional knockdown of hMRS2 results in loss of mitochondrial Mg(2+) uptake and cell death.
Submit: New GeneRIF Correction

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)

HIV-1 interactions

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Replication interactions

Interaction Pubs
Knockdown of MRS2 magnesium homeostasis factor homolog by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Protein interactions

Protein Gene Interaction Pubs
Rev rev HIV-1 Rev is identified to have a physical interaction with magnesium homeostasis factor homolog (MRS2) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC78523

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables magnesium ion transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables magnesium ion transmembrane transporter activity IMP
Inferred from Mutant Phenotype
more info
 PubMed 
enables magnesium ion transmembrane transporter activity TAS
Traceable Author Statement
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in lactate metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in mitochondrial magnesium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mitochondrial magnesium ion transmembrane transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in transmembrane transport TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
is_active_in mitochondrial inner membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
  
located_in mitochondrion HTP PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
magnesium transporter MRS2 homolog, mitochondrial
Names
MRS2, magnesium transporter
MRS2-like protein
MRS2-like, magnesium homeostasis factor
putative magnesium transporter

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.

mRNA and Protein(s)

  1. NM_001286264.2 → NP_001273193.1  magnesium transporter MRS2 homolog, mitochondrial isoform a

    See identical proteins and their annotated locations for NP_001273193.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
    Source sequence(s)
    AA836333, AF293076, AK298849, AL359713, BM829320
    Consensus CDS
    CCDS69055.1
    UniProtKB/TrEMBL
    B4DSN2
    Related
    ENSP00000399585.2, ENST00000443868.6
    Conserved Domains (1) summary
    cd12823
    Location:88 → 402
    Mrs2_Mfm1p-like; Saccharomyces cerevisiae inner mitochondrial membrane Mg2+ transporters Mfm1p and Mrs2p-like family

  2. NM_001286265.2 → NP_001273194.1  magnesium transporter MRS2 homolog, mitochondrial isoform c

    See identical proteins and their annotated locations for NP_001273194.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) lacks an exon and uses an alternate splice site, which results in an alternate in-frame segment in the 5' coding region, and it contains an alternate 3' terminal exon and thus differs in the 3' coding region and 3' UTR, compared to variant 1. The encoded isoform (c) has a distinct C-terminus and is shorter than isoform a.
    Source sequence(s)
    AA828962, BC069009, BM829320
    Consensus CDS
    CCDS75408.1
    UniProtKB/TrEMBL
    B4DSN2
    Related
    ENSP00000367604.1, ENST00000378353.5
    Conserved Domains (1) summary
    cd12823
    Location:88 → 399
    Mrs2_Mfm1p-like; Saccharomyces cerevisiae inner mitochondrial membrane Mg2+ transporters Mfm1p and Mrs2p-like family

  3. NM_001286266.2 → NP_001273195.1  magnesium transporter MRS2 homolog, mitochondrial isoform d

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks three exons and uses an alternate splice site, which results in the loss of an in-frame segment in the 5' coding region, compared to variant 1. The encoded isoform (d) is shorter than isoform a.
    Source sequence(s)
    AA836333, AF293076, AK299825, AL359713, BM829320, DC305123
    Consensus CDS
    CCDS69056.1
    UniProtKB/TrEMBL
    A0A0A0MQX2, B4DSN2
    Related
    ENSP00000274747.8, ENST00000274747.11
    Conserved Domains (1) summary
    cd12823
    Location:89 → 349
    Mrs2_Mfm1p-like; Saccharomyces cerevisiae inner mitochondrial membrane Mg2+ transporters Mfm1p and Mrs2p-like family

  4. NM_020662.4 → NP_065713.1  magnesium transporter MRS2 homolog, mitochondrial isoform b precursor

    See identical proteins and their annotated locations for NP_065713.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an exon and uses an alternate splice site, which results in an alternate in-frame segment in the 5' coding region, compared to variant 1. The encoded isoform (b) is shorter than isoform a.
    Source sequence(s)
    AA836333, AF293076, AK291058, AL359713, BM829320
    Consensus CDS
    CCDS4552.1
    UniProtKB/Swiss-Prot
    A8K4U3, B3KNN2, B4DQL2, Q5T3Y1, Q6NTG4, Q96KF8, Q9BVP1, Q9HD23
    UniProtKB/TrEMBL
    B4DSN2
    Related
    ENSP00000367637.3, ENST00000378386.8
    Conserved Domains (1) summary
    cd12823
    Location:88 → 399
    Mrs2_Mfm1p-like; Saccharomyces cerevisiae inner mitochondrial membrane Mg2+ transporters Mfm1p and Mrs2p-like family

RNA

  1. NR_104423.2 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) lacks two exons and uses two alternate splice sites in the 5' region, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most expected translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AA836333, AF293076, AK297418, AL359713

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_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    24402936..24426190
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005249242.3 → XP_005249299.1  magnesium transporter MRS2 homolog, mitochondrial isoform X1

    UniProtKB/TrEMBL
    B4DSN2
    Conserved Domains (1) summary
    cd12823
    Location:88 → 369
    Mrs2_Mfm1p-like; Saccharomyces cerevisiae inner mitochondrial membrane Mg2+ transporters Mfm1p and Mrs2p-like family

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    24272971..24296223
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054356029.1 → XP_054212004.1  magnesium transporter MRS2 homolog, mitochondrial isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9HD23.1 GenPept UniProtKB/Swiss-Prot:Q9HD23

Gene LinkOut

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