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

Gene ID: 221154, updated on 10-Dec-2024

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 calcium ion binding activity; calcium ion sensor activity; and protein heterodimerization activity. Involved in calcium import into the mitochondrion; cellular response to calcium ion; and negative regulation of mitochondrial calcium ion concentration. Located in mitochondrial intermembrane space. Part of uniplex complex. Is active in mitochondrial inner membrane. [provided by Alliance of Genome Resources, Dec 2024]
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

See MICU2 in Genome Data Viewer
Location:
13q12.11
Exon count:
15
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (21492691..21604170, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (20687026..20798493, complement)
RS_2024_09 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

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Interactions

General gene information

Clone Names

  • FLJ25016, FLJ34588

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium channel regulator activity PubMed 
enables calcium ion binding  
enables calcium ion binding PubMed 
enables calcium ion sensor activity PubMed 
enables protein binding PubMed 
enables protein heterodimerization activity PubMed 
Component Evidence Code Pubs
part_of calcium channel complex  
is_active_in mitochondrial inner membrane PubMed 
located_in mitochondrial inner membrane PubMed 
located_in mitochondrial inner membrane PubMed 
located_in mitochondrial inner membrane  
located_in mitochondrial intermembrane space PubMed 
located_in mitochondrion PubMed 
located_in mitochondrion  
part_of uniplex complex  
part_of uniplex complex PubMed 
part_of uniplex complex PubMed 
part_of uniplex complex PubMed 

General protein information

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_152726.3NP_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:176395
    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_2024_08

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_047430142.1XP_047286098.1  calcium uptake protein 2, mitochondrial isoform X2

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

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

  4. XM_047430141.1XP_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_054374209.1XP_054230184.1  calcium uptake protein 2, mitochondrial isoform X2

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

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

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

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