1. Gene
  2. MICU3 - mitochondrial calcium uptake family member 3 Gene

MICU3 - mitochondrial calcium uptake family member 3 Gene

Homo sapiens

Also known as EFHA2

Gene ID: 286097 | Gene type: protein coding

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

MICU3 Protein Structure

EF-hand_8

EF-hand_8: EF-hand domain pair (237 - 261)

EF-hand_8

EF-hand_8: EF-hand domain pair (451 - 502)

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  • 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

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