• Gene id: 221154

Gene Summary

• Gene Symbol: MICU2   Gene   UCSC   Ensembl
• Aliases: 1110008L20Rik, EFHA1
• Gene name: mitochondrial calcium uptake 2
• Alternate names: calcium uptake protein 2, mitochondrial, EF hand domain family A1, EF hand domain family, member A1, EF-hand domain-containing family member A1, Smhs2 homolog,
• Gene location: 13q12.11 (21604204: 21492690)     Exons: 3     NC_000013.11
• OMIM: 610632

Protein Summary

• Protein general information: Q8IYU8  
  • Name: Calcium uptake protein 2, mitochondrial (EF hand domain containing family member A1)
  • Length: 434  
  • Mass: 49666
• Sequence:

  MAAAAGSCARVAAWGGKLRRGLAVSRQAVRSPGPLAAAVAGAALAGAGAAWHHSRVSVAARDGSFTVSAQKNVEH
  GIIYIGKPSLRKQRFMQFSSLEHEGEYYMTPRDFLFSVMFEQMERKTSVKKLTKKDIEDTLSGIQTAGCGSTFFR
  DLGDKGLISYTEYLFLLTILTKPHSGFHVAFKMLDTDGNEMIEKREFFKLQKIISKQDDLMTVKTNETGYQEAIV
  KEPEINTTLQMRFFGKRGQRKLHYKEFRRFMENLQTEIQEMEFLQFSKGLSFMRKEDFAEWLLFFTNTENKDIYW
  KNVREKLSAGESISLDEFKSFCHFTTHLEDFAIAMQMFSLAHRPVRLAEFKRAVKVATGQELSNNILDTVFKIFD
  LDGDECLSHEEFLGVLKNRMHRGLWVPQHQSIQEYWKCVKKESIKGVKEVWKQAGKGLF

• Structural information:
  • Protein Domains: (172..20-)
    (/note="EF-hand-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (227..26-)
    (/note="EF-hand-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00448-)
    (293..32-)
    (/note="EF-hand-3)
    (/evidence="ECO:0000255|PROSITE-ProRule:PR-)
  • Interpro: IPR011992  IPR002048  IPR039800  
  • Prosite: PS50222
  • PDB: 6AGH 6IIH
  • PDBsum: 6AGH 6IIH
  • STRING: ENSP00000371811
• Other Databases: GeneCards:  MICU2  Malacards:  MICU2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1990246	uniplex complex	IDA	cellular component
GO:1990246	uniplex complex	IDA	cellular component
GO:0051562	negative regulation of mitochondrial calcium ion concentration	IDA	biological process
GO:0006851	mitochondrial calcium ion transmembrane transport	IDA	biological process
GO:0005758	mitochondrial intermembrane space	IDA	cellular component
GO:0005758	mitochondrial intermembrane space	IDA	cellular component
GO:0005743	mitochondrial inner membrane	IDA	cellular component
GO:0051560	mitochondrial calcium ion homeostasis	IMP	biological process
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0034704	calcium channel complex	ISS	cellular component
GO:0005739	mitochondrion	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0036444	calcium import into the mitochondrion	IMP	biological process
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0005509	calcium ion binding	IEA	molecular function
GO:0006851	mitochondrial calcium ion transmembrane transport	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:1990246	uniplex complex	IDA	cellular component
GO:0005758	mitochondrial intermembrane space	IDA	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0006851	mitochondrial calcium ion transmembrane transport	TAS	biological process
GO:0005509	calcium ion binding	IEA	molecular function
GO:0051561	positive regulation of mitochondrial calcium ion concentration	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0006851	mitochondrial calcium ion transmembrane transport	IEA	biological process
GO:0034704	calcium channel complex	IEA	cellular component
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0005758	mitochondrial intermembrane space	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881