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MICU3 Gene

protein-coding   GIFtS: 36
GCID: GC08P016884

Mitochondrial Calcium Uptake Family, Member 3

(Previous names: EF hand domain family A2, EF-hand domain family, member...)
(Previous symbol: EFHA2)
  Search for MICU3
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Mitochondrial Calcium Uptake Family, Member 31 2     EF-Hand Domain-Containing Family Member A22 3
EFHA21 2 3 5     Calcium Uptake Protein 3, Mitochondrial2
EF Hand Domain Family A21 2     EF Hand Domain Family, Member A22
EF-Hand Domain Family, Member A21 2     Mitochondrial Uptake Family, Member 32

External Ids:    HGNC: 278201   Entrez Gene: 2860972   Ensembl: ENSG000001559707   OMIM: 6106335   UniProtKB: Q86XE33   

Export aliases for MICU3 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for MICU3 Gene:
MICU3 (mitochondrial calcium uptake family, member 3) is a protein-coding gene. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is MICU1.

UniProtKB/Swiss-Prot: MICU3_HUMAN, Q86XE3
Function: May play a role in mitochondrial calcium uptake (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000008.10  NT_167187.2  NC_018919.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for MICU3
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMICU3 promoter sequence
   Search Chromatin IP Primers for MICU3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MICU3


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8p22   Ensembl cytogenetic band:  8p22   HGNC cytogenetic band: 8p22

MICU3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MICU3 gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P016884:  view genomic region     (about GC identifiers)

Start:
16,884,747 bp from pter      End:
16,980,153 bp from pter
Size:
95,407 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MICU3_HUMAN, Q86XE3 (See protein sequence)
Recommended Name: Calcium uptake protein 3, mitochondrial  
Size: 530 amino acids; 60711 Da
Miscellaneous: Binds calcium (Potential)
Sequence caution: Sequence=AAH32868.1; Type=Frameshift; Positions=29;
Secondary accessions: Q8IYZ3

Explore the universe of human proteins at neXtProt for MICU3: NX_Q86XE3

Explore proteomics data for MICU3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MICU3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_859074.1  
    ENSEMBL proteins: 
     ENSP00000321455   ENSP00000427765   ENSP00000428890  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    EFHAND: EF-hand domain containing

    3 InterPro protein domains:
     IPR011992 EF-hand-dom_pair
     IPR002048 EF_hand_dom
     IPR018247 EF_Hand_1_Ca_BS

    Graphical View of Domain Structure for InterPro Entry Q86XE3

    ProtoNet protein and cluster: Q86XE3

    UniProtKB/Swiss-Prot: MICU3_HUMAN, Q86XE3
    Similarity: Contains 3 EF-hand domains


    Find genes that share domains with MICU3           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MICU3_HUMAN, Q86XE3
    Function: May play a role in mitochondrial calcium uptake (By similarity)

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
         
    Find genes that share ontologies with MICU3           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MICU3
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    MICU3_HUMAN, Q86XE3: Mitochondrion (By similarity). Membrane; Single-pass membrane protein (Potential)

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with MICU3           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MICU3
    Interactions:

        Search GeneGlobe Interaction Network for MICU3

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for MICU3 (ENSP000003214554) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CGNENSP000002716364STRING: ENSP00000271636
    MYH10ENSP000002692434STRING: ENSP00000269243
    MYH11ENSP000003796164STRING: ENSP00000379616
    MYH9ENSP000002161814STRING: ENSP00000216181
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for MICU3



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for MICU3 gene: 
    NM_181723.2  

    Unigene Cluster for MICU3:

    Mitochondrial uptake family, member 3
    Hs.403594  [show with all ESTs]
    Unigene Representative Sequence: BC045553
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000318063(uc003wxd.2) ENST00000522235 ENST00000519044 ENST00000517398
    ENST00000517447 ENST00000519866
    miRNA
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    Additional mRNA sequence: 

    AL833419.1 BC032868.1 BC045553.1 

    4 DOTS entries:

    DT.304631  DT.100748521  DT.40236381  DT.75149404 

    Selected AceView cDNA sequences (see all 36):

    AI868167 BX953026 NM_181723 AI560079 CA866738 CD677676 AL833419 BU784958 
    BU785217 CA866991 BC045553 AI631301 AI472331 BI546243 AV726514 AV725480 
    AI016151 BG619062 AW262883 BC032868 BF979960 BI553696 AL711662 BI546667 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    MICU3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    MICU3 Expression
    About this image

    MICU3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MICU3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.403594
        Custom PCR Arrays for MICU3
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MICU3

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for MICU3 gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Efha25
    Micu31
    EF-hand domain family, member A25
    mitochondrial calcium uptake family, member 31
    90.31(n)1
    92.73(a)1
      8 (23.89 cM)5
    785061  NM_030110.11  NP_084386.11 
     403074585 
    chicken
    (Gallus gallus)
    Aves EFHA21 EF-hand domain family, member A2 79.92(n)
    83.64(a)
      422736  XM_420691.4  XP_420691.3 
    lizard
    (Anolis carolinensis)
    Reptilia MICU36
    mitochondrial calcium uptake family, member 3
    71(a)
    1 ↔ 1
    5(108103800-108157991)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia micu31 mitochondrial calcium uptake family, member 3 73.6(n)
    76.51(a)
      101734305  XM_004911194.1  XP_004911251.1 
    zebrafish
    (Danio rerio)
    Actinopterygii micu3a1 mitochondrial uptake family, member 3a 68.53(n)
    73.54(a)
      559552  XM_001919516.4  XP_001919551.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG46621 CG4662 51.66(n)
    50.26(a)
      42357  NM_001170186.2  NP_001163657.1 
    worm
    (Caenorhabditis elegans)
    Secernentea CELE_C56A3.61 CELE_C56A3.6 49.65(n)
    37.37(a)
      179837  NM_001269593.1  NP_001256522.1 


    ENSEMBL Gene Tree for MICU3 (if available)
    TreeFam Gene Tree for MICU3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MICU3 gene
    MICU12  MICU22  
    2 SIMAP similar genes for MICU3 using alignment to 3 protein entries:     MICU3_HUMAN (see all proteins):
    MICU2    MICU1

    Find genes that share paralogs with MICU3           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for MICU3 (see all 2382)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1500210561,2
    Cuntested116935352(+) TATTTC/TGAAAT 2 R * stg11Minor allele frequency- T:0.00NA 4526
    rs1880604321,2
    --16882751(+) GTTTCA/GCTCTG 1 -- us2k10--------
    rs285298801,2
    C,F--16882947(+) AGGATA/GGGCTC 1 -- us2k12Minor allele frequency- G:0.00WA CSA 3
    rs1456274301,2
    --16882978(+) CACCCA/GCCTCG 1 -- us2k10--------
    rs1908883151,2
    --16882983(+) GCCTCA/GGCCTC 1 -- us2k10--------
    rs1823196011,2
    --16882986(+) TCGGCC/TTCCCA 1 -- us2k10--------
    rs1490709801,2
    --16883053(+) ATATAA/TAATAT 1 -- us2k10--------
    rs1876849811,2
    --16883130(+) ATAAAC/TTGAGG 1 -- us2k10--------
    rs1927015331,2
    --16883159(+) AAGACG/TCTATC 1 -- us2k10--------
    rs1153561591,2
    --16883162(+) ACGCTA/TTCAGA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for MICU3 (16884747 - 16980153 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for MICU3: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MICU3
    DNA2.0 Custom Variant and Variant Library Synthesis for MICU3

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 610633    OMIM disorders: --


    Find genes that share disorders with MICU3           About GenesLikeMe


    Export disorders for MICU3 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for MICU3 gene integrated from 10 sources:
    (articles sorted by number of sources associating them with MICU3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. MICU2, a paralog of MICU1, resides within the mitochondrial uniporter complex to regulate calcium handling. (PubMed id 23409044)1, 3 Plovanich M....Mootha V.K. (PLoS ONE 2013)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    3. Genome-wide association study of comorbid depressive syndrome and alcohol dependence. (PubMed id 22064162)1 Edwards A.C....Dick D.M. (Psychiatr. Genet. 2012)
    4. DNA sequence and analysis of human chromosome 8. (PubMed id 16421571)2 Nusbaum C....Lander E.S. (Nature 2006)
    5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 286097 HGNC: 27820 AceView: LOC286097 Ensembl:ENSG00000155970 euGenes: HUgn286097
    ECgene: MICU3 H-InvDB: MICU3

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for MICU3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MICU3 gene:
    Search GeneIP for patents involving MICU3

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014

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