MICU3 - mitochondrial calcium uptake family member 3 Gene

Also Known as EFHA2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 286097

About MICU3

Cytogenetic location: 8p22 Genomic coordinates (GRCh38): 8:17,027,238-17,138,640 (from NCBI)

This gene has 6 transcripts (splice variants), 262 orthologues and 2 paralogues. Ubiquitous expression in brain (RPKM 2.9), adrenal (RPKM 1.3) and 23 other tissues.

Summary

Predicted to enable calcium ion binding activity. Predicted to be involved in calcium import into the mitochondrion and mitochondrial calcium ion homeostasis. Predicted to be located in mitochondrial inner membrane. Predicted to be part of uniplex complex. [provided by Alliance of Genome Resources, Apr 2022]

MICU3 Products (11)

mRNA	Protein	Name
NM_001349810.2	NP_001336739.1	calcium uptake protein 3, mitochondrial isoform 2
NM_001413217.1	NP_001400146.1	calcium uptake protein 3, mitochondrial isoform 3
NM_001413218.1	NP_001400147.1	calcium uptake protein 3, mitochondrial isoform 4
NM_001413219.1	NP_001400148.1	calcium uptake protein 3, mitochondrial isoform 5
NM_001413221.1	NP_001400150.1	calcium uptake protein 3, mitochondrial isoform 6
NM_001413222.1	NP_001400151.1	calcium uptake protein 3, mitochondrial isoform 7
NM_001413223.1	NP_001400152.1	calcium uptake protein 3, mitochondrial isoform 8
NM_001413224.1	NP_001400153.1	calcium uptake protein 3, mitochondrial isoform 9
NM_001413225.1	NP_001400154.1	calcium uptake protein 3, mitochondrial isoform 10
NM_001413226.1	NP_001400155.1	calcium uptake protein 3, mitochondrial isoform 11
NM_181723.3	NP_859074.1	calcium uptake protein 3, mitochondrial isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables calcium ion sensor activity	IDA IDA: Inferred from direct assay	29725115	GOA
enables protein heterodimerization activity	IPI IPI: Inferred from physical interaction	29725115	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in calcium import into the mitochondrion	IDA IDA: Inferred from direct assay	29725115	GOA
involved in cellular response to calcium ion	IDA IDA: Inferred from direct assay	29725115	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MICU3 Protein Structure

EF-hand_8

0
100
200
300
400
500
530 a.a.

Protein Preferred Names	Protein Names
calcium uptake protein 3, mitochondrial	EF hand domain family A2

Related Diseases

Diseases	Alias
Generalized Epilepsy With Febrile Seizures Plus, Type 6	GEFSP6 Gefs+6 Generalized Epilepsy With Febrile Seizures Plus 6 Gefs+, Type 6 Generalised Epilepsy With Febrile Seizures Plus 6 Generalised Epilepsy With Febrile Seizures Plus Type 6 Generalized Epilepsy With Febrile Seizures Plus Type 6
Optic Atrophy 3, Autosomal Dominant	Optic Atrophy 3 OPA3 Autosomal Dominant Optic Atrophy And Cataract Optic Atrophy And Cataract, Autosomal Dominant Autosomal Dominant Optic Atrophy Type 3 Optic Atrophy 3 With Cataract Opa3, Autosomal Dominant Adoac Optic Atrophy, Cataract, And Neurologic Disorder Autosomal Dominant Optic Atrophy 3 Optic Atrophy Type 3 Optic Atrophy 3 Autosomal Dominant Atrophy, Optic, Type 3, Autosomal Dominant 3-Methylglutaconic Aciduria Type 3

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08433	MICU3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	MICU3	VGNC	VGNC:74596
Mus musculus	MICU3	MGD	MGI:1925756
Felis catus	MICU3	VGNC	VGNC:63496
Canis familiaris	MICU3	VGNC	VGNC:51813
Bos taurus	MICU3	VGNC	VGNC:31463
Rattus norvegicus	MICU3	RGD	RGD:1563411
Others	MICU3	NCBI