Aliases for MRS2 Gene

Aliases for MRS2 Gene

  • Magnesium Transporter MRS2 2 3 5
  • Magnesium Transporter MRS2 Homolog, Mitochondrial 3 4
  • MRS2-Like Protein 3 4
  • MRS2L 3 4
  • HPT 3 4
  • MRS2 Magnesium Homeostasis Factor Homolog (S. Cerevisiae) 2
  • MRS2-Like, Magnesium Homeostasis Factor (S. Cerevisiae) 2
  • MRS2-Like, Magnesium Homeostasis Factor 3
  • Putative Magnesium Transporter 3
  • MRS2, Magnesium Transporter 3

External Ids for MRS2 Gene

Previous HGNC Symbols for MRS2 Gene

  • MRS2L

Previous GeneCards Identifiers for MRS2 Gene

  • GC06P024512
  • GC06P024403
  • GC06P024352

Summaries for MRS2 Gene

GeneCards Summary for MRS2 Gene

MRS2 (Magnesium Transporter MRS2) is a Protein Coding gene. Diseases associated with MRS2 include Osteopetrosis, Autosomal Dominant 1 and Basilar Artery Occlusion. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Miscellaneous transport and binding events. Gene Ontology (GO) annotations related to this gene include magnesium ion transmembrane transporter activity.

UniProtKB/Swiss-Prot Summary for MRS2 Gene

  • Magnesium transporter that mediates the influx of magnesium into the mitochondrial matrix (PubMed:11401429, PubMed:18384665). Required for normal expression of the mitochondrial respiratory complex I subunits (PubMed:18384665).

Gene Wiki entry for MRS2 Gene

Additional gene information for MRS2 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MRS2 Gene

Genomics for MRS2 Gene

GeneHancer (GH) Regulatory Elements for MRS2 Gene

Promoters and enhancers for MRS2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J024399 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 538.3 -0.7 -655 5.9 ZNF217 SIN3A NRF1 USF1 POLR2G NCOR1 PHF8 TEAD4 ZFX ZNF639 MRS2 piR-61279 ALDH5A1 DCDC2
GH06J024427 Enhancer 0.8 Ensembl ENCODE 47.9 +26.0 25993 2.2 ZNF217 ZNF316 CEBPB NFE2 ZFHX2 PKNOX1 EP300 MAFG ATF4 NFE2L2 MRS2 RNU6-391P ALDH5A1 lnc-GPLD1-1 piR-42274-001 RF00017-5365 GPLD1
GH06J024354 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 14.5 -45.0 -45027 6.2 EP300 ZNF217 CTCF NRF1 USF1 POLR2G NCOR1 ZFX ZNF639 ZNF10 DCDC2 KAAG1 MRS2 RF00017-5364
GH06J024382 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE dbSUPER 17.7 -20.4 -20396 3.1 POLR2G NCOR1 ZBTB25 TEAD1 U2AF2 KMT2B FOXA2 KAT7 TBP SAP130 DCDC2 MRS2 RF00026-925 RNU6-391P
GH06J024431 Enhancer 0.7 ENCODE 33.5 +28.3 28290 0.1 CTCF REST RAD21 TRIM22 SMC3 ZSCAN9 ARNT TRIM28 XRCC3 ZNF513 MRS2 ENSG00000272402 lnc-GPLD1-1 piR-42274-001 RF00017-5365 GPLD1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MRS2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MRS2

Top Transcription factor binding sites by QIAGEN in the MRS2 gene promoter:
  • AML1a
  • C/EBPalpha
  • Evi-1
  • FOXJ2
  • FOXJ2 (long isoform)
  • HNF-1
  • HNF-1A
  • Sox5

Genomic Locations for MRS2 Gene

Genomic Locations for MRS2 Gene
chr6:24,402,908-24,426,194
(GRCh38/hg38)
Size:
23,287 bases
Orientation:
Plus strand
chr6:24,403,153-24,425,816
(GRCh37/hg19)
Size:
22,664 bases
Orientation:
Plus strand

Genomic View for MRS2 Gene

Genes around MRS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MRS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MRS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MRS2 Gene

Proteins for MRS2 Gene

  • Protein details for MRS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HD23-MRS2_HUMAN
    Recommended name:
    Magnesium transporter MRS2 homolog, mitochondrial
    Protein Accession:
    Q9HD23
    Secondary Accessions:
    • A8K4U3
    • B3KNN2
    • B4DQL2
    • Q5T3Y1
    • Q6NTG4
    • Q96KF8
    • Q9BVP1

    Protein attributes for MRS2 Gene

    Size:
    443 amino acids
    Molecular mass:
    50318 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • Has the ability to complement a deletion of MRS2 in S.cerevisiae and partly restore mitochondrial magnesium concentrations.

    Alternative splice isoforms for MRS2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MRS2 Gene

Post-translational modifications for MRS2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MRS2 Gene

Domains & Families for MRS2 Gene

Gene Families for MRS2 Gene

Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Transporters

Protein Domains for MRS2 Gene

Blocks:
  • Ankyrin repeat signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for MRS2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ60698, highly similar to Magnesium transporter MRS2L, mitochondrial (B4DMD9_HUMAN)
  • cDNA FLJ52725, highly similar to Magnesium transporter MRS2L, mitochondrial (B4DQL2_HUMAN)
  • MRS2-like protein (MRS2_HUMAN)
  • Putative magnesium transporter (Q96KF9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9HD23

UniProtKB/Swiss-Prot:

MRS2_HUMAN :
  • Belongs to the CorA metal ion transporter (MIT) (TC 1.A.35) family.
Family:
  • Belongs to the CorA metal ion transporter (MIT) (TC 1.A.35) family.
genes like me logo Genes that share domains with MRS2: view

Function for MRS2 Gene

Molecular function for MRS2 Gene

UniProtKB/Swiss-Prot Function:
Magnesium transporter that mediates the influx of magnesium into the mitochondrial matrix (PubMed:11401429, PubMed:18384665). Required for normal expression of the mitochondrial respiratory complex I subunits (PubMed:18384665).

Phenotypes From GWAS Catalog for MRS2 Gene

Gene Ontology (GO) - Molecular Function for MRS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015095 magnesium ion transmembrane transporter activity TAS,IBA --
genes like me logo Genes that share ontologies with MRS2: view
genes like me logo Genes that share phenotypes with MRS2: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MRS2 Gene

Localization for MRS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MRS2 Gene

Mitochondrion inner membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MRS2 gene
Compartment Confidence
mitochondrion 5
plasma membrane 2
extracellular 2
nucleus 2
cytosol 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for MRS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 11401429
GO:0005743 mitochondrial inner membrane TAS,IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MRS2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MRS2 Gene

Pathways & Interactions for MRS2 Gene

genes like me logo Genes that share pathways with MRS2: view

Pathways by source for MRS2 Gene

Gene Ontology (GO) - Biological Process for MRS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006089 lactate metabolic process IEA --
GO:0006811 ion transport IEA --
GO:0015693 magnesium ion transport IBA 21873635
GO:0045016 mitochondrial magnesium ion transmembrane transport IMP,IBA 11401429
GO:0055085 transmembrane transport TAS --
genes like me logo Genes that share ontologies with MRS2: view

No data available for SIGNOR curated interactions for MRS2 Gene

Drugs & Compounds for MRS2 Gene

(1) Drugs for MRS2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved, Experimental, Investigational Pharma 0

(1) Additional Compounds for MRS2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MRS2: view

Transcripts for MRS2 Gene

mRNA/cDNA for MRS2 Gene

4 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for MRS2 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b · 11c ^ 12a · 12b · 12c · 12d · 12e ^ 13
SP1: - - - - -
SP2: - - -
SP3:
SP4: - - - - - - - -
SP5: - - -
SP6:
SP7: -

Relevant External Links for MRS2 Gene

GeneLoc Exon Structure for
MRS2

Expression for MRS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MRS2 Gene

Protein differential expression in normal tissues from HIPED for MRS2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (53.1) and Retina (13.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MRS2 Gene



Protein tissue co-expression partners for MRS2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MRS2

SOURCE GeneReport for Unigene cluster for MRS2 Gene:

Hs.658612

Evidence on tissue expression from TISSUES for MRS2 Gene

  • Lung(4.4)
  • Nervous system(3.8)
  • Kidney(2)
genes like me logo Genes that share expression patterns with MRS2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MRS2 Gene

Orthologs for MRS2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MRS2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MRS2 31 30
  • 99.55 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MRS2 31 30
  • 90.21 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MRS2 31 30
  • 87.06 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mrs2 30
  • 83.33 (n)
mouse
(Mus musculus)
Mammalia Mrs2 17 31 30
  • 81.87 (n)
oppossum
(Monodelphis domestica)
Mammalia MRS2 31
  • 79 (a)
OneToOne
chicken
(Gallus gallus)
Aves MRS2 31 30
  • 75.3 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MRS2 31
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mrs2 30
  • 72.61 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC565251 30
  • 67.16 (n)
MRS2 31
  • 59 (a)
OneToOne
Dr.22850 30
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5335 30
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0F02519g 30
  • 43.56 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes MRS2 31 30
  • 43.26 (n)
OneToMany
MFM1 33 31
  • 23 (a)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_ADR359W 30
  • 41.16 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons MGT10 30
  • 42.14 (n)
rice
(Oryza sativa)
Liliopsida Os03g0684400 30
  • 43.38 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes mrs2 30
  • 44.25 (n)
bread mold
(Neurospora crassa)
Ascomycetes NCU09091 30
  • 42.65 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.8669 31
  • 7 (a)
OneToOne
Species where no ortholog for MRS2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MRS2 Gene

ENSEMBL:
Gene Tree for MRS2 (if available)
TreeFam:
Gene Tree for MRS2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MRS2: view image

Paralogs for MRS2 Gene

Pseudogenes.org Pseudogenes for MRS2 Gene

genes like me logo Genes that share paralogs with MRS2: view

No data available for Paralogs for MRS2 Gene

Variants for MRS2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MRS2 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
rs2295651 - p.Pro35Ser
rs35261004 - p.Pro412Ser

Additional dbSNP identifiers (rs#s) for MRS2 Gene

Structural Variations from Database of Genomic Variants (DGV) for MRS2 Gene

Variant ID Type Subtype PubMed ID
esv2671548 CNV deletion 23128226
nsv1026638 CNV gain 25217958
nsv1125872 CNV tandem duplication 24896259

Variation tolerance for MRS2 Gene

Residual Variation Intolerance Score: 38.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.66; 78.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MRS2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MRS2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MRS2 Gene

Disorders for MRS2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for MRS2 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search MRS2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MRS2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MRS2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MRS2 Gene

Publications for MRS2 Gene

  1. The human mitochondrial Mrs2 protein functionally substitutes for its yeast homologue, a candidate magnesium transporter. (PMID: 11401429) Zsurka G … Schweyen RJ (Genomics 2001) 3 4 23 54
  2. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
  3. Conditional knockdown of hMRS2 results in loss of mitochondrial Mg(2+) uptake and cell death. (PMID: 18384665) Piskacek M … Schweyen RJ (Journal of cellular and molecular medicine 2009) 3 4 54
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 54

Products for MRS2 Gene

Sources for MRS2 Gene