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

Summary

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; hMICU3; 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: mouse all
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Genomic context

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_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mitochondrial clearance of calcium facilitated by MICU2 controls insulin secretion.
Title: Mitochondrial clearance of calcium facilitated by MICU2 controls insulin secretion.
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.
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.
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.
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.
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.
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.
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.
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.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-37580 (e-PCR)
- UniSTS:61963

RH94193 (e-PCR)
- UniSTS:92980

D13S1534 (e-PCR)
- UniSTS:473463

RH68982 (e-PCR)
- UniSTS:91779

D8S1675 (e-PCR)
- UniSTS:9627

RH121631 (e-PCR)
- UniSTS:134313

SHGC-31003 (e-PCR)
- UniSTS:14512

D13S837E (e-PCR)
- UniSTS:151512

RH122365 (e-PCR)
- UniSTS:138462

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)

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

NC_000013.11 Reference GRCh38.p14 Primary Assembly

Range

21492691..21604170 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047430142.1 → XP_047286098.1 calcium uptake protein 2, mitochondrial isoform X2
XM_017020433.2 → XP_016875922.1 calcium uptake protein 2, mitochondrial isoform X4
XM_047430143.1 → XP_047286099.1 calcium uptake protein 2, mitochondrial isoform X3
XM_047430141.1 → XP_047286097.1 calcium uptake protein 2, mitochondrial isoform X1

Alternate T2T-CHM13v2.0

Genomic

NC_060937.1 Alternate T2T-CHM13v2.0

Range

20687026..20798493 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054374209.1 → XP_054230184.1 calcium uptake protein 2, mitochondrial isoform X2
XM_054374211.1 → XP_054230186.1 calcium uptake protein 2, mitochondrial isoform X4
XM_054374210.1 → XP_054230185.1 calcium uptake protein 2, mitochondrial isoform X3
XM_054374208.1 → XP_054230183.1 calcium uptake protein 2, mitochondrial isoform X1