Free for academic non-profit institutions. Other users need a Commercial license

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
  • 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
  • Calcium Uptake Protein 3, Mitochondrial 3
  • Mitochondrial Uptake Family, Member 3 3

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. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is MICU2.

UniProtKB/Swiss-Prot for MICU3 Gene

  • May play a role in mitochondrial calcium uptake.

Additional gene information for MICU3 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MICU3 Gene

Genomics for MICU3 Gene

GeneHancer (GH) Regulatory Elements for MICU3 Gene

Promoters and enhancers for MICU3 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
GH08I017026 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 550.8 +0.2 239 2.2 PKNOX1 ARID4B SIN3A DMAP1 ZNF2 ZNF48 YY1 SLC30A9 GLIS2 KLF7 MICU3 GC08P017125
GH08I016825 Enhancer 1.2 Ensembl ENCODE 47.4 -200.8 -200839 2.2 PKNOX1 SMAD1 FEZF1 ZNF2 ZNF213 ZNF302 FOS DEK SP3 JUNB ENSG00000249258 MICU3 MTUS1 ZDHHC2 ENSG00000253671 CNOT7 ENSG00000253944 GC08M016797 RN7SL474P ENSG00000253496
GH08I017613 Enhancer 1.4 Ensembl ENCODE dbSUPER 32.6 +589.6 589567 7.6 FOXA2 MLX ZFP64 ARID4B FEZF1 DMAP1 SLC30A9 ZNF213 SP3 SP5 MICU3 PCM1 PDGFRL ENSG00000249258 MTUS1 FGF20 ENSG00000277466 MIR548V
GH08I017494 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 13.6 +469.9 469944 4.9 FOXA2 ZFP64 ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF213 FOS SP5 SLC7A2 ENSG00000280453 LOC100133073 ENSG00000249258 CNOT7 MICU3 MTUS1 ENSG00000253671 ENSG00000253944 NAT2
GH08I017155 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 13.7 +130.2 130178 4.5 PKNOX1 FOXA2 ARID4B SIN3A FEZF1 ZNF2 ZNF48 YY1 GLIS2 ZNF213 ZDHHC2 MICU3 MTMR7 GC08P017223
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around MICU3 on UCSC Golden Path with GeneCards custom track

Genomic Locations for MICU3 Gene

Genomic Locations for MICU3 Gene
chr8:17,027,238-17,122,644
(GRCh38/hg38)
Size:
95,407 bases
Orientation:
Plus strand
chr8:16,884,747-16,980,153
(GRCh37/hg19)

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
    Miscellaneous:
    • Binds calcium.
    SequenceCaution:
    • Sequence=AAH32868.1; Type=Frameshift; Positions=29; Evidence={ECO:0000305};

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:

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

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
peroxisome 2
cytosol 2
nucleus 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

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 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 Approved Nutra 0
genes like me logo Genes that share compounds with MICU3: view

Transcripts for MICU3 Gene

Unigene Clusters for MICU3 Gene

Mitochondrial uptake family, member 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

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

No ASD Table

Relevant External Links for MICU3 Gene

GeneLoc Exon Structure for
MICU3
ECgene alternative splicing isoforms for
MICU3

Expression for MICU3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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, PaxDb, MaxQB, and MOPED for MICU3 Gene



Protein tissue co-expression partners for MICU3 Gene

NURSA nuclear receptor signaling pathways regulating expression of MICU3 Gene:

MICU3

SOURCE GeneReport for Unigene cluster for MICU3 Gene:

Hs.403594

Evidence on tissue expression from TISSUES for MICU3 Gene

  • Nervous system(4.3)
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 33 34
  • 99.5 (n)
cow
(Bos Taurus)
Mammalia EFHA2 33
  • 93.01 (n)
MICU3 34
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MICU3 33 34
  • 90.37 (n)
mouse
(Mus musculus)
Mammalia Micu3 33 16 34
  • 90.31 (n)
oppossum
(Monodelphis domestica)
Mammalia MICU3 34
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Micu3 33
  • 89.58 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MICU3 34
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves EFHA2 33
  • 79.92 (n)
MICU3 34
  • 79 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MICU3 34
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia micu3 33
  • 73.6 (n)
zebrafish
(Danio rerio)
Actinopterygii micu3a 33 34
  • 68.53 (n)
MICU3 (1 of 2) 34
  • 61 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004179 33
  • 52.61 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4662 33 34
  • 51.66 (n)
worm
(Caenorhabditis elegans)
Secernentea CELE_C56A3.6 33
  • 49.65 (n)
C56A3.6 34
  • 33 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10493 34
  • 48 (a)
OneToMany
Species where no ortholog for MICU3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for MICU3 Gene

Paralogs for MICU3 Gene

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

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

Variants for MICU3 Gene

Sequence variations from dbSNP and Humsavar for MICU3 Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs1000004048 -- 17,079,075(+) A/T intron_variant
rs1000042305 -- 17,087,028(+) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000089830 -- 17,110,792(+) G/T genic_downstream_transcript_variant, intron_variant
rs1000118376 -- 17,079,243(+) A/C intron_variant
rs1000127558 -- 17,035,345(+) T/C intron_variant

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 for MICU3 Gene

Disorders for MICU3 Gene

Additional Disease Information for MICU3

No disorders were found for MICU3 Gene.

No data available for MalaCards , 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 58
  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 58
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
  4. SR protein kinases promote splicing of nonconsensus introns. (PMID: 26167880) Lipp JJ … Guthrie C (Nature structural & molecular biology 2015) 3 58
  5. Genome-wide association study of comorbid depressive syndrome and alcohol dependence. (PMID: 22064162) Edwards AC … Dick DM (Psychiatric genetics 2012) 3 58

Products for MICU3 Gene

Sources for MICU3 Gene

Content
Loading form....