MRS2 magnesium transporter MRS2 [Homo sapiens (human)] - Gene

Summary

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, Dec 2024]
Expression: Ubiquitous expression in heart (RPKM 8.7), thyroid (RPKM 7.9) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

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_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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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?

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.
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.
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.
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.
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.
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.
Observational study of gene-disease association. (HuGE Navigator)
Title: Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
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.
Multidrug resistance phenotypes is related to MRS2 mitochondrial magnesium channel.
Title: Multidrug resistance phenotypes and MRS2 mitochondrial magnesium channel: two players from one stemness?
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.

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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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

GDB:434012 (e-PCR)
- UniSTS:157204

D8S2279 (e-PCR)
- UniSTS:473907

sY3084 (e-PCR)
- UniSTS:515126

L18426 (e-PCR)
- UniSTS:34648

RH80641 (e-PCR)
- UniSTS:87395

WI-20721 (e-PCR)
- UniSTS:33385

RH69657 (e-PCR)
- UniSTS:76228

PMC166143P10 (e-PCR)
- UniSTS:271560

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 more info	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)

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
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
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
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

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

NC_000006.12 Reference GRCh38.p14 Primary Assembly

Range

24402936..24426190

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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