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MICU2 mitochondrial calcium uptake 2 [ Homo sapiens (human) ]

Gene ID: 221154, updated on 3-May-2024

Summary

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Official Symbol
MICU2provided by HGNC
Official Full Name
mitochondrial calcium uptake 2provided by HGNC
Primary source
HGNC:HGNC:31830
See related
Ensembl:ENSG00000165487 MIM:610632; AllianceGenome:HGNC:31830
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
EFHA1; 1110008L20Rik
Summary
Enables protein heterodimerization activity. Involved in calcium import into the mitochondrion and negative regulation of mitochondrial calcium ion concentration. Located in mitochondrial inner membrane and mitochondrial intermembrane space. Part of uniplex complex. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in kidney (RPKM 25.3), adrenal (RPKM 19.4) and 25 other tissues See more
Orthologs
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Genomic context

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Location:
13q12.11
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (21492691..21604170, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (20687026..20798493, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (22066830..22178309, complement)

Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903131 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5161 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5162 Neighboring gene H2B histone pseudogene 6 Neighboring gene small nucleolar RNA U13 Neighboring gene farnesyltransferase, CAAX box, alpha pseudogene 2 Neighboring gene RNA, U6 small nuclear 59, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5163 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7436 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7437 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7438 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:22177403-22178022 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:22178023-22178641 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7440 Neighboring gene ribosomal protein S7 pseudogene 10 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5165 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5166 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5167 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5168 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5169 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5170 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7441 Neighboring gene fibroblast growth factor 9

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Bibliography

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Related articles in PubMed

  1. A null mutation in MICU2 causes abnormal mitochondrial calcium homeostasis and a severe neurodevelopmental disorder. Shamseldin HE, et al. Brain, 2017 Nov 1. PMID 29053821
  2. The structure of the MICU1-MICU2 complex unveils the regulation of the mitochondrial calcium uniporter. Wu W, et al. EMBO J, 2020 Oct 1. PMID 32790952, Free PMC Article
  3. Dimerization of MICU Proteins Controls Ca(2+) Influx through the Mitochondrial Ca(2+) Uniporter. Xing Y, et al. Cell Rep, 2019 Jan 29. PMID 30699349
  4. Cardiovascular homeostasis dependence on MICU2, a regulatory subunit of the mitochondrial calcium uniporter. Bick AG, et al. Proc Natl Acad Sci U S A, 2017 Oct 24. PMID 29073106, Free PMC Article
  5. High-affinity cooperative Ca(2+) binding by MICU1-MICU2 serves as an on-off switch for the uniporter. Kamer KJ, et al. EMBO Rep, 2017 Aug. PMID 28615291, Free PMC Article

See all (53) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Mitochondrial clearance of calcium facilitated by MICU2 controls insulin secretion.
    Title: Mitochondrial clearance of calcium facilitated by MICU2 controls insulin secretion.
  2. Mechanisms of EMRE-Dependent MCU Opening in the Mitochondrial Calcium Uniporter Complex.
    Title: Mechanisms of EMRE-Dependent MCU Opening in the Mitochondrial Calcium Uniporter Complex.
  3. The structure of the MICU1-MICU2 complex unveils the regulation of the mitochondrial calcium uniporter.
    Title: The structure of the MICU1-MICU2 complex unveils the regulation of the mitochondrial calcium uniporter.
  4. Structures reveal gatekeeping of the mitochondrial Ca(2+) uniporter by MICU1-MICU2.
    Title: Structures reveal gatekeeping of the mitochondrial Ca(2+) uniporter by MICU1-MICU2.
  5. multiple crystal structures of MICU2 and MICU3 from Homo sapiens, were determined.
    Title: Dimerization of MICU Proteins Controls Ca(2+) Influx through the Mitochondrial Ca(2+) Uniporter.
  6. MICU2 restricts spatial crosstalk between InsP3R and MCU channels by regulating threshold and gain of MICU1-mediated inhibition and activation of MCU.
    Title: MICU2 Restricts Spatial Crosstalk between InsP(3)R and MCU Channels by Regulating Threshold and Gain of MICU1-Mediated Inhibition and Activation of MCU.
  7. MICU2 expression in the heart tissues from patients with ventricular hypertrophy.
    Title: Cardiovascular homeostasis dependence on MICU2, a regulatory subunit of the mitochondrial calcium uniporter.
  8. study concludes that cooperative, high-affinity interaction of the MICU1-MICU2 complex with Ca(2+) serves as an on-off switch, leading to a tightly controlled channel, capable of responding directly to cytosolic Ca(2+) signals
    Title: High-affinity cooperative Ca(2+) binding by MICU1-MICU2 serves as an on-off switch for the uniporter.
  9. This is the first demonstration of MICU2 deficiency in humans, which we suggest causes a distinct neurodevelopmental phenotype secondary to impaired mitochondrial calcium uniporter-mediated regulation of intracellular calcium homeostasis.
    Title: A null mutation in MICU2 causes abnormal mitochondrial calcium homeostasis and a severe neurodevelopmental disorder.
  10. Expression of MICU2 mutants lacking functional Ca2+-binding sites leads to a striking loss of Ca2+ uptake in HEK293 cells.
    Title: MICU1 and MICU2 play nonredundant roles in the regulation of the mitochondrial calcium uniporter.
Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Genetic determinants of P wave duration and PR segment.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ25016, FLJ34588

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables calcium ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables calcium ion sensor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein heterodimerization activity IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in calcium import into the mitochondrion IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in calcium import into the mitochondrion IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in calcium import into the mitochondrion IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in calcium import into the mitochondrion NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in mitochondrial calcium ion homeostasis IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in mitochondrial calcium ion homeostasis IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in mitochondrial calcium ion homeostasis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mitochondrial calcium ion homeostasis NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in mitochondrial calcium ion transmembrane transport IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in negative regulation of mitochondrial calcium ion concentration IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in positive regulation of mitochondrial calcium ion concentration IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
part_of calcium channel complex ISS
Inferred from Sequence or Structural Similarity
more info
  
is_active_in mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrial inner membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrial inner membrane NAS
Non-traceable Author Statement
more info
 PubMed 
located_in mitochondrial inner membrane TAS
Traceable Author Statement
more info
  
located_in mitochondrial intermembrane space IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion ISS
Inferred from Sequence or Structural Similarity
more info
  
part_of uniplex complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of uniplex complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of uniplex complex IPI
Inferred from Physical Interaction
more info
 PubMed 
part_of uniplex complex NAS
Non-traceable Author Statement
more info
 PubMed 

General protein information

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Preferred Names
calcium uptake protein 2, mitochondrial
Names
EF hand domain family A1
EF hand domain family, member A1
EF-hand domain-containing family member A1
Smhs2 homolog

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_152726.3 → NP_689939.1  calcium uptake protein 2, mitochondrial

    See identical proteins and their annotated locations for NP_689939.1

    Status: VALIDATED

    Source sequence(s)
    AL138680, BC031089, BQ438851
    Consensus CDS
    CCDS9297.1
    UniProtKB/Swiss-Prot
    Q8IYU8, Q8N0T6, Q8NAX8
    UniProtKB/TrEMBL
    A0A0S2Z6V5
    Related
    ENSP00000371811.4, ENST00000382374.9
    Conserved Domains (1) summary
    cd16174
    Location:176 → 395
    EFh_MICU2; EF-hand, calcium binding motif, found in calcium uptake protein 2, mitochondrial (MICU2) and similar proteins

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000013.11 Reference GRCh38.p14 Primary Assembly

    Range
    21492691..21604170 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047430142.1 → XP_047286098.1  calcium uptake protein 2, mitochondrial isoform X2

  2. XM_017020433.2 → XP_016875922.1  calcium uptake protein 2, mitochondrial isoform X4

  3. XM_047430143.1 → XP_047286099.1  calcium uptake protein 2, mitochondrial isoform X3

  4. XM_047430141.1 → XP_047286097.1  calcium uptake protein 2, mitochondrial isoform X1

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060937.1 Alternate T2T-CHM13v2.0

    Range
    20687026..20798493 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054374209.1 → XP_054230184.1  calcium uptake protein 2, mitochondrial isoform X2

  2. XM_054374211.1 → XP_054230186.1  calcium uptake protein 2, mitochondrial isoform X4

  3. XM_054374210.1 → XP_054230185.1  calcium uptake protein 2, mitochondrial isoform X3

  4. XM_054374208.1 → XP_054230183.1  calcium uptake protein 2, mitochondrial isoform X1

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q8IYU8.2 GenPept UniProtKB/Swiss-Prot:Q8IYU8

Gene LinkOut

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