Aliases for MICU2 Gene

Aliases for MICU2 Gene

  • Mitochondrial Calcium Uptake 2 2 3 5
  • EF-Hand Domain-Containing Family Member A1 3 4
  • Calcium Uptake Protein 2, Mitochondrial 3 4
  • EF Hand Domain Family A1 2 3
  • EFHA1 3 4
  • EF-Hand Domain Family, Member A1 2
  • EF Hand Domain Family, Member A1 3
  • 1110008L20Rik 3
  • Smhs2 Homolog 3
  • MICU2 5

External Ids for MICU2 Gene

Previous HGNC Symbols for MICU2 Gene

  • EFHA1

Previous GeneCards Identifiers for MICU2 Gene

  • GC13M022067

Summaries for MICU2 Gene

GeneCards Summary for MICU2 Gene

MICU2 (Mitochondrial Calcium Uptake 2) is a Protein Coding gene. Diseases associated with MICU2 include Myopathy With Extrapyramidal Signs and Cataract 3, Multiple Types. Gene Ontology (GO) annotations related to this gene include calcium ion binding and protein heterodimerization activity. An important paralog of this gene is MICU3.

UniProtKB/Swiss-Prot Summary for MICU2 Gene

  • Key regulator of mitochondrial calcium uniporter (MCU) required to limit calcium uptake by MCU when cytoplasmic calcium is low (PubMed:24503055, PubMed:24560927, PubMed:26903221). MICU1 and MICU2 form a disulfide-linked heterodimer that stimulate and inhibit MCU activity, depending on the concentration of calcium (PubMed:24560927). MICU2 acts as a gatekeeper of MCU that senses calcium level via its EF-hand domains: prevents channel opening at resting calcium, avoiding energy dissipation and cell-death triggering (PubMed:24560927).

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MICU2 Gene

Genomics for MICU2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MICU2 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
GH13J021602 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 257.6 +0.5 480 2.7 CHD2 TBP SP1 MXD4 BRCA1 SMAD5 ETS1 MBD2 ZNF217 POLR2A MICU2 HSALNG0095617 lnc-ZDHHC20-88 RNU2-7P RPS7P10 XPO4 ZDHHC20 piR-31534-132
GH13J021583 Enhancer 0.7 Ensembl ENCODE 18.1 +20.5 20504 1.8 TEAD3 YY1 TAF1 EGR1 SP1 ZNF644 KLF5 ZNF143 POLR2A TRIM28 MICU2 ZDHHC20 RF00017-1364 piR-31534-132 lnc-ZDHHC20-88
GH13J021580 Enhancer 0.6 Ensembl ENCODE 18.1 +23.7 23704 4.2 CTBP1 ZBTB33 ATF4 CEBPB ATF3 RUNX3 MICU2 ZDHHC20 RF00017-1364 piR-31534-132 lnc-ZDHHC20-88
GH13J021522 Enhancer 0.9 Ensembl ENCODE 8.1 +81.1 81104 3 MAFF TAL1 MYNN ZNF316 PRDM10 SMARCA4 HDAC2 STAT5A MAFK EHMT2 MICU2 SNODB1252 KR153194-041 ZDHHC20 lnc-ZDHHC20-88
GH13J021616 Enhancer 0.7 ENCODE 9.2 -12.7 -12690 1.4 FOXA2 MAFF SMAD4 SAP130 ETV4 RARA TEAD3 BCL6 JUND TBP LOC107984582 MICU2 piR-43148-001 FGF9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MICU2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MICU2

Genomic Locations for MICU2 Gene

Latest Assembly
chr13:21,492,691-21,604,205
(GRCh38/hg38)
Size:
111,515 bases
Orientation:
Minus strand

Previous Assembly
chr13:22,066,830-22,178,309
(GRCh37/hg19 by Entrez Gene)
Size:
111,480 bases
Orientation:
Minus strand

chr13:22,066,836-22,178,353
(GRCh37/hg19 by Ensembl)
Size:
111,518 bases
Orientation:
Minus strand

Genomic View for MICU2 Gene

Genes around MICU2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MICU2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MICU2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MICU2 Gene

Proteins for MICU2 Gene

  • Protein details for MICU2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IYU8-MICU2_HUMAN
    Recommended name:
    Calcium uptake protein 2, mitochondrial
    Protein Accession:
    Q8IYU8
    Secondary Accessions:
    • Q8N0T6
    • Q8NAX8

    Protein attributes for MICU2 Gene

    Size:
    434 amino acids
    Molecular mass:
    49666 Da
    Quaternary structure:
    • Heterodimer; disulfide-linked; heterodimerizes with MICU1 (PubMed:24560927). Interacts with MCU (PubMed:26341627). The heterodimer formed with MICU1 associates with MCU at low calcium concentration and dissociates from MCU at high calcium level (PubMed:26387864). Component of the uniplex complex, composed of MCU, MCUB, MICU1, MICU2 and EMRE/SMDT1 (PubMed:24231807).
    SequenceCaution:
    • Sequence=BAC03769.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MICU2 Gene

neXtProt entry for MICU2 Gene

Post-translational modifications for MICU2 Gene

  • Ubiquitination at Lys82, Lys206, and Lys214
  • Modification sites at PhosphoSitePlus

Other Protein References for MICU2 Gene

No data available for DME Specific Peptides for MICU2 Gene

Domains & Families for MICU2 Gene

Gene Families for MICU2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transporters

Protein Domains for MICU2 Gene

Suggested Antigen Peptide Sequences for MICU2 Gene

GenScript: Design optimal peptide antigens:
  • EF-hand domain-containing family member A1 (EFHA1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8IYU8

UniProtKB/Swiss-Prot:

MICU2_HUMAN :
  • The EF-hand domains have high affinity for calcium and act as sensors of mitochondrial matrix calcium levels (PubMed:24503055). It is unclear which EF-hand binds calcium as none of the 4 EF-hand domains seem to contain a canonical calcium-binding site.
  • Belongs to the MICU1 family. MICU2 subfamily.
Domain:
  • The EF-hand domains have high affinity for calcium and act as sensors of mitochondrial matrix calcium levels (PubMed:24503055). It is unclear which EF-hand binds calcium as none of the 4 EF-hand domains seem to contain a canonical calcium-binding site.
Family:
  • Belongs to the MICU1 family. MICU2 subfamily.
genes like me logo Genes that share domains with MICU2: view

Function for MICU2 Gene

Molecular function for MICU2 Gene

UniProtKB/Swiss-Prot Function:
Key regulator of mitochondrial calcium uniporter (MCU) required to limit calcium uptake by MCU when cytoplasmic calcium is low (PubMed:24503055, PubMed:24560927, PubMed:26903221). MICU1 and MICU2 form a disulfide-linked heterodimer that stimulate and inhibit MCU activity, depending on the concentration of calcium (PubMed:24560927). MICU2 acts as a gatekeeper of MCU that senses calcium level via its EF-hand domains: prevents channel opening at resting calcium, avoiding energy dissipation and cell-death triggering (PubMed:24560927).

Phenotypes From GWAS Catalog for MICU2 Gene

Gene Ontology (GO) - Molecular Function for MICU2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA,IBA 21873635
GO:0005515 protein binding IPI 24560927
GO:0046982 protein heterodimerization activity IPI 24560927
genes like me logo Genes that share ontologies with MICU2: view
genes like me logo Genes that share phenotypes with MICU2: view

Animal Models for MICU2 Gene

MGI Knock Outs for MICU2:
  • Micu2 Micu2<tm1a(EUCOMM)Wtsi>

Animal Models for research

  • Taconic Biosciences Mouse Models for MICU2

miRNA for MICU2 Gene

miRTarBase miRNAs that target MICU2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MICU2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MICU2 Gene

Localization for MICU2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MICU2 Gene

Mitochondrion intermembrane space.

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 MICU2 gene
Compartment Confidence
mitochondrion 5
cytosol 3
plasma membrane 2
peroxisome 2
endoplasmic reticulum 2
extracellular 1
cytoskeleton 1
nucleus 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MICU2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion ISS --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005758 mitochondrial intermembrane space IEA,IDA 22925203
GO:0034704 calcium channel complex ISS --
GO:1990246 uniplex complex IDA 22925203
genes like me logo Genes that share ontologies with MICU2: view

Pathways & Interactions for MICU2 Gene

PathCards logo

SuperPathways for MICU2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MICU2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006851 mitochondrial calcium ion transmembrane transport IEA,TAS --
GO:0036444 calcium import into the mitochondrion IMP 26903221
GO:0051560 mitochondrial calcium ion homeostasis IBA,IMP 26903221
GO:0051561 positive regulation of mitochondrial calcium ion concentration IEA --
GO:0051562 negative regulation of mitochondrial calcium ion concentration IDA 24560927
genes like me logo Genes that share ontologies with MICU2: view

No data available for Pathways by source and SIGNOR curated interactions for MICU2 Gene

Drugs & Compounds for MICU2 Gene

(1) Drugs for MICU2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6876
genes like me logo Genes that share compounds with MICU2: view

Transcripts for MICU2 Gene

mRNA/cDNA for MICU2 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MICU2

Alternative Splicing Database (ASD) splice patterns (SP) for MICU2 Gene

No ASD Table

Relevant External Links for MICU2 Gene

GeneLoc Exon Structure for
MICU2

Expression for MICU2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MICU2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MICU2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (16.5) and Stomach (10.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MICU2 Gene



Protein tissue co-expression partners for MICU2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MICU2

SOURCE GeneReport for Unigene cluster for MICU2 Gene:

Hs.412103

Evidence on tissue expression from TISSUES for MICU2 Gene

  • Kidney(4.5)
  • Nervous system(4.5)
  • Heart(2.7)
  • Muscle(2.6)
  • Liver(2.4)
genes like me logo Genes that share expression patterns with MICU2: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MICU2 Gene

Orthologs for MICU2 Gene

This gene was present in the common ancestor of animals.

Orthologs for MICU2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia EFHA1 30 31
  • 99.31 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MICU2 30 31
  • 88.12 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia EFHA1 30 31
  • 85.43 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Micu2 30
  • 84.84 (n)
Mouse
(Mus musculus)
Mammalia Micu2 30 17 31
  • 84.58 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia MICU2 31
  • 76 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MICU2 31
  • 69 (a)
OneToOne
Chicken
(Gallus gallus)
Aves EFHA1 30
  • 73.76 (n)
MICU2 31
  • 61 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MICU2 31
  • 58 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia micu2 30
  • 67.9 (n)
Zebrafish
(Danio rerio)
Actinopterygii micu2 30 31
  • 59.54 (n)
OneToOne
Dr.28123 30
Fruit Fly
(Drosophila melanogaster)
Insecta CG4662 31
  • 30 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea C56A3.6 31
  • 27 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10493 31
  • 33 (a)
OneToMany
Species where no ortholog for MICU2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • 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)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for MICU2 Gene

ENSEMBL:
Gene Tree for MICU2 (if available)
TreeFam:
Gene Tree for MICU2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MICU2: view image

Paralogs for MICU2 Gene

Paralogs for MICU2 Gene

(1) SIMAP similar genes for MICU2 Gene using alignment to 1 proteins:

  • MICU2_HUMAN

Pseudogenes.org Pseudogenes for MICU2 Gene

genes like me logo Genes that share paralogs with MICU2: view

Variants for MICU2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MICU2 Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
870672 Uncertain Significance: not provided 21,603,970(-) G/A
NM_152726.3(MICU2):c.179C>T (p.Ala60Val)
MISSENSE
917632 Likely Pathogenic: not specified 21,503,071(-) ATC/A
NM_152726.3(MICU2):c.784_785GA[1] (p.Glu262fs)
FRAMESHIFT
978073 Uncertain Significance: not provided 21,604,107(-) C/T
NM_152726.3(MICU2):c.42G>A (p.Trp14Ter)
NONSENSE
rs145410850 Likely Benign: not provided 21,502,943(-) T/A
NM_152726.3(MICU2):c.916A>T (p.Lys306Ter)
NONSENSE
rs145503945 Likely Benign: not provided 21,502,942(-) T/A
NM_152726.3(MICU2):c.917A>T (p.Lys306Met)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MICU2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for MICU2 Gene

Variant ID Type Subtype PubMed ID
esv2662411 CNV deletion 23128226
esv3631464 CNV gain 21293372
nsv1054982 CNV gain 25217958
nsv1078303 OTHER inversion 25765185
nsv1140246 OTHER inversion 24896259
nsv1151909 OTHER inversion 26484159
nsv525610 CNV loss 19592680
nsv528507 CNV gain 19592680
nsv832560 CNV loss 17160897
nsv952 CNV deletion 18451855
nsv953 CNV insertion 18451855
nsv955 CNV deletion 18451855
nsv976086 CNV duplication 23825009

Variation tolerance for MICU2 Gene

Residual Variation Intolerance Score: 67.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.29; 40.93% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MICU2 Gene

Human Gene Mutation Database (HGMD)
MICU2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MICU2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MICU2 Gene

Disorders for MICU2 Gene

MalaCards: The human disease database

(5) MalaCards diseases for MICU2 Gene - From: COP

Disorder Aliases PubMed IDs
myopathy with extrapyramidal signs
  • mpxps
cataract 3, multiple types
  • ctrct3
sagittal sinus thrombosis
  • thrombosis of superior longitudinal sinus
intracranial sinus thrombosis
  • sinus thrombosis, intracranial
stormorken syndrome
  • strmk
- elite association - COSMIC cancer census association via MalaCards
Search MICU2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for MICU2

genes like me logo Genes that share disorders with MICU2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MICU2 Gene

Publications for MICU2 Gene

  1. Functional roles of MICU1 and MICU2 in mitochondrial Ca(2+) uptake. (PMID: 26903221) Matesanz-Isabel J … Alvarez J (Biochimica et biophysica acta 2016) 3 4
  2. Dual functions of a small regulatory subunit in the mitochondrial calcium uniporter complex. (PMID: 27099988) Tsai MF … Miller C (eLife 2016) 3 4
  3. The Ca(2+)-Dependent Release of the Mia40-Induced MICU1-MICU2 Dimer from MCU Regulates Mitochondrial Ca(2+) Uptake. (PMID: 26387864) Petrungaro C … Riemer J (Cell metabolism 2015) 3 4
  4. MICU1 and MICU2 finely tune the mitochondrial Ca2+ uniporter by exerting opposite effects on MCU activity. (PMID: 24560927) Patron M … Rizzuto R (Molecular cell 2014) 3 4
  5. MICU1 and MICU2 play nonredundant roles in the regulation of the mitochondrial calcium uniporter. (PMID: 24503055) Kamer KJ … Mootha VK (EMBO reports 2014) 3 4

Products for MICU2 Gene

Sources for MICU2 Gene