Aliases for MICU3 Gene

Aliases for MICU3 Gene

  • Mitochondrial Calcium Uptake Family Member 3 2 3 5
  • EF-Hand Domain-Containing Family Member A2 3 4
  • Calcium Uptake Protein 3, Mitochondrial 3 4
  • EF-Hand Domain Family, Member A2 2 3
  • EF Hand Domain Family A2 2 3
  • EFHA2 3 4
  • Mitochondrial Calcium Uptake Family, Member 3 2
  • Mitochondrial Uptake Family, Member 3 3
  • DKFZp313A0139 2
  • MICU3 5

External Ids for MICU3 Gene

Previous HGNC Symbols for MICU3 Gene

  • EFHA2

Previous GeneCards Identifiers for MICU3 Gene

  • GC08P016884

Summaries for MICU3 Gene

GeneCards Summary for MICU3 Gene

MICU3 (Mitochondrial Calcium Uptake Family Member 3) is a Protein Coding gene. Diseases associated with MICU3 include Generalized Epilepsy With Febrile Seizures Plus, Type 6 and Optic Atrophy 3, Autosomal Dominant. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is MICU2.

UniProtKB/Swiss-Prot Summary for MICU3 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MICU3 Gene

Genomics for MICU3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MICU3 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MICU3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MICU3

Genomic Locations for MICU3 Gene

Genomic Locations for MICU3 Gene
chr8:17,027,238-17,133,069
(GRCh38/hg38)
Size:
105,832 bases
Orientation:
Plus strand
chr8:16,884,747-16,980,153
(GRCh37/hg19)
Size:
95,407 bases
Orientation:
Plus strand

Genomic View for MICU3 Gene

Genes around MICU3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MICU3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MICU3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MICU3 Gene

Proteins for MICU3 Gene

  • Protein details for MICU3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86XE3-MICU3_HUMAN
    Recommended name:
    Calcium uptake protein 3, mitochondrial
    Protein Accession:
    Q86XE3
    Secondary Accessions:
    • Q8IYZ3

    Protein attributes for MICU3 Gene

    Size:
    530 amino acids
    Molecular mass:
    60711 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH32868.1; Type=Frameshift; Evidence={ECO:0000305};
    Miscellaneous:
    • Binds calcium.

    Three dimensional structures from OCA and Proteopedia for MICU3 Gene

neXtProt entry for MICU3 Gene

Post-translational modifications for MICU3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for MICU3 Gene

Domains & Families for MICU3 Gene

Gene Families for MICU3 Gene

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

Protein Domains for MICU3 Gene

Suggested Antigen Peptide Sequences for MICU3 Gene

GenScript: Design optimal peptide antigens:
  • EF-hand domain-containing family member A2 (EFHA2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q86XE3

UniProtKB/Swiss-Prot:

MICU3_HUMAN :
  • Belongs to the MICU1 family. MICU3 subfamily.
Family:
  • Belongs to the MICU1 family. MICU3 subfamily.
genes like me logo Genes that share domains with MICU3: view

Function for MICU3 Gene

Molecular function for MICU3 Gene

UniProtKB/Swiss-Prot Function:
May play a role in mitochondrial calcium uptake.

Phenotypes From GWAS Catalog for MICU3 Gene

Gene Ontology (GO) - Molecular Function for MICU3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MICU3: view
genes like me logo Genes that share phenotypes with MICU3: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MICU3

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for MICU3 Gene

Localization for MICU3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MICU3 Gene

Mitochondrion. Membrane. Single-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 MICU3 gene
Compartment Confidence
mitochondrion 5
plasma membrane 2
cytosol 2
extracellular 1
cytoskeleton 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for MICU3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MICU3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for MICU3 Gene

Pathways & Interactions for MICU3 Gene

PathCards logo

SuperPathways for MICU3 Gene

No Data Available

Gene Ontology (GO) - Biological Process for MICU3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006851 mitochondrial calcium ion transmembrane transport IEA,TAS --
genes like me logo Genes that share ontologies with MICU3: view

No data available for Pathways by source and SIGNOR curated interactions for MICU3 Gene

Drugs & Compounds for MICU3 Gene

(1) Drugs for MICU3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6556
genes like me logo Genes that share compounds with MICU3: view

Transcripts for MICU3 Gene

mRNA/cDNA for MICU3 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MICU3

Alternative Splicing Database (ASD) splice patterns (SP) for MICU3 Gene

No ASD Table

Relevant External Links for MICU3 Gene

GeneLoc Exon Structure for
MICU3

Expression for MICU3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MICU3 Gene

mRNA differential expression in normal tissues according to GTEx for MICU3 Gene

This gene is overexpressed in Brain - Cerebellar Hemisphere (x4.2).

Protein differential expression in normal tissues from HIPED for MICU3 Gene

This gene is overexpressed in Frontal cortex (37.5), Placenta (15.2), and Adipocyte (8.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for MICU3 Gene



Protein tissue co-expression partners for MICU3 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MICU3

SOURCE GeneReport for Unigene cluster for MICU3 Gene:

Hs.403594

Evidence on tissue expression from TISSUES for MICU3 Gene

  • Nervous system(4.5)
genes like me logo Genes that share expression patterns with MICU3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MICU3 Gene

Orthologs for MICU3 Gene

This gene was present in the common ancestor of animals.

Orthologs for MICU3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia EFHA2 30 31
  • 99.5 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia EFHA2 30
  • 93.01 (n)
MICU3 31
  • 92 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia MICU3 30 31
  • 90.37 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Micu3 30 17 31
  • 90.31 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia MICU3 31
  • 90 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Micu3 30
  • 89.58 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia MICU3 31
  • 86 (a)
OneToOne
Chicken
(Gallus gallus)
Aves EFHA2 30
  • 79.92 (n)
MICU3 31
  • 79 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MICU3 31
  • 71 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia micu3 30
  • 73.6 (n)
Zebrafish
(Danio rerio)
Actinopterygii micu3a 30 31
  • 68.53 (n)
OneToMany
MICU3 (1 of 2) 31
  • 61 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004179 30
  • 52.61 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG4662 30 31
  • 51.66 (n)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea CELE_C56A3.6 30
  • 49.65 (n)
C56A3.6 31
  • 33 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10493 31
  • 48 (a)
OneToMany
Species where no ortholog for MICU3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 MICU3 Gene

ENSEMBL:
Gene Tree for MICU3 (if available)
TreeFam:
Gene Tree for MICU3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MICU3: view image

Paralogs for MICU3 Gene

Paralogs for MICU3 Gene

(2) SIMAP similar genes for MICU3 Gene using alignment to 3 proteins:

  • MICU3_HUMAN
  • H0YAN7_HUMAN
  • H0YB82_HUMAN
genes like me logo Genes that share paralogs with MICU3: view

Variants for MICU3 Gene

Additional dbSNP identifiers (rs#s) for MICU3 Gene

Structural Variations from Database of Genomic Variants (DGV) for MICU3 Gene

Variant ID Type Subtype PubMed ID
dgv250e55 CNV gain 17911159
dgv3786n106 CNV deletion 24896259
esv1983650 CNV deletion 18987734
esv2736679 CNV deletion 23290073
esv2736680 CNV deletion 23290073
esv2759599 CNV gain 17122850
esv2761416 CNV gain 21179565
esv3304421 CNV mobile element insertion 20981092
esv3366766 CNV insertion 20981092
esv3543151 CNV deletion 23714750
esv3572603 CNV loss 25503493
esv3572604 CNV loss 25503493
esv5842 CNV loss 19470904
esv6985 CNV gain 19470904
nsv1018645 CNV gain 25217958
nsv1074745 CNV deletion 25765185
nsv396389 CNV deletion 16902084
nsv8304 CNV gain+loss 18304495
nsv831243 CNV gain 17160897
nsv831244 CNV gain 17160897

Variation tolerance for MICU3 Gene

Residual Variation Intolerance Score: 57.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.40; 77.09% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MICU3 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MICU3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MICU3 Gene

Disorders for MICU3 Gene

MalaCards: The human disease database

(6) MalaCards diseases for MICU3 Gene - From: DISEASES

genes like me logo Genes that share disorders with MICU3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MICU3 Gene

Publications for MICU3 Gene

  1. MICU2, a paralog of MICU1, resides within the mitochondrial uniporter complex to regulate calcium handling. (PMID: 23409044) Plovanich M … Mootha VK (PloS one 2013) 2 3
  2. 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
  3. Dimerization of MICU Proteins Controls Ca2+ Influx through the Mitochondrial Ca2+ Uniporter. (PMID: 30699349) Xing Y … Shen Y (Cell reports 2019) 3
  4. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3
  5. SPATA2 Links CYLD to LUBAC, Activates CYLD, and Controls LUBAC Signaling. (PMID: 27591049) Elliott PR … Gyrd-Hansen M (Molecular cell 2016) 3

Products for MICU3 Gene

Sources for MICU3 Gene