Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	221154
Gene name	Mitochondrial calcium uptake 2
Gene symbol	MICU2
Synonyms (NCBI Gene)	1110008L20RikEFHA1hMICU3
Chromosome	13
Chromosome location	13q12.11

Show/Hide all (2)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029201	hsa-miR-26b-5p	Microarray	19088304
MIRT031531	hsa-miR-16-5p	Proteomics	18668040

Show/Hide all (45)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005246	Function	Calcium channel regulator activity	IDA	32494073
GO:0005246	Function	Calcium channel regulator activity	IEA
GO:0005509	Function	Calcium ion binding	IBA
GO:0005509	Function	Calcium ion binding	IDA	31397067
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	24560927, 26387864, 28615291, 32494073, 33961781
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS
GO:0005743	Component	Mitochondrial inner membrane	IDA	28615291
GO:0005743	Component	Mitochondrial inner membrane	IDA	27099988, 32494073
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	NAS	31533452
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0005758	Component	Mitochondrial intermembrane space	IDA	24231807, 24560927
GO:0005758	Component	Mitochondrial intermembrane space	IEA
GO:0006851	Process	Mitochondrial calcium ion transmembrane transport	IDA	24560927
GO:0006851	Process	Mitochondrial calcium ion transmembrane transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0034704	Component	Calcium channel complex	IEA
GO:0034704	Component	Calcium channel complex	ISS
GO:0036444	Process	Calcium import into the mitochondrion	IBA
GO:0036444	Process	Calcium import into the mitochondrion	IDA	22925203
GO:0036444	Process	Calcium import into the mitochondrion	IDA	28615291, 30699349, 31397067, 32148862, 32494073, 32667285, 32762847, 32790952
GO:0036444	Process	Calcium import into the mitochondrion	IEA
GO:0036444	Process	Calcium import into the mitochondrion	IMP	23755363
GO:0036444	Process	Calcium import into the mitochondrion	IMP	26903221
GO:0036444	Process	Calcium import into the mitochondrion	NAS	31533452
GO:0046982	Function	Protein heterodimerization activity	IEA
GO:0046982	Function	Protein heterodimerization activity	IPI	24560927, 26387864, 30699349, 32148862, 32790952
GO:0051560	Process	Mitochondrial calcium ion homeostasis	IBA
GO:0051560	Process	Mitochondrial calcium ion homeostasis	IDA	32494073
GO:0051560	Process	Mitochondrial calcium ion homeostasis	IEA
GO:0051560	Process	Mitochondrial calcium ion homeostasis	IMP	26903221
GO:0051560	Process	Mitochondrial calcium ion homeostasis	NAS	31533452
GO:0051561	Process	Positive regulation of mitochondrial calcium ion concentration	IEA
GO:0051562	Process	Negative regulation of mitochondrial calcium ion concentration	IDA	24560927
GO:0061891	Function	Calcium ion sensor activity	IDA	28615291, 30699349, 31397067, 32148862, 32494073, 32667285, 32762847, 32790952
GO:0061891	Function	Calcium ion sensor activity	IEA
GO:0071277	Process	Cellular response to calcium ion	IDA	32494073
GO:0071277	Process	Cellular response to calcium ion	IEA
GO:1990246	Component	Uniplex complex	IBA
GO:1990246	Component	Uniplex complex	IDA	24231807, 24560927, 32667285, 32762847, 32862359
GO:1990246	Component	Uniplex complex	IPI	32494073
GO:1990246	Component	Uniplex complex	NAS	31533452

MIM	HGNC	e!Ensembl
610632	31830	ENSG00000165487

Q8IYU8

Protein name

Calcium uptake protein 2, mitochondrial (hMICU3) (EF-hand domain-containing family member A1)

Protein function

Calcium sensor of the mitochondrial calcium uniporter (MCU) channel, which senses calcium level via its EF-hand domains (PubMed:24503055, PubMed:24560927, PubMed:26903221, PubMed:28615291, PubMed:30699349, PubMed:31397067, PubMed:32494073, PubMe

PDB

6AGH , 6IIH , 6K7Y , 6LB7 , 6LB8 , 6LE5 , 6WDN , 6WDO , 6XJV , 6XJX , 6XQN , 6XQO

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13833	EF-hand_8	347 → 394	EF-hand domain pair	Domain

Sequence

MAAAAGSCARVAAWGGKLRRGLAVSRQAVRSPGPLAAAVAGAALAGAGAAWHHSRVSVAA
RDGSFTVSAQKNVEHGIIYIGKPSLRKQRFMQFSSLEHEGEYYMTPRDFLFSVMFEQMER
KTSVKKLTKKDIEDTLSGIQTAGCGSTFFRDLGDKGLISYTEYLFLLTILTKPHSGFHVA
FKMLDTDGNEMIEKREFFKLQKIISKQDDLMTVKTNETGYQEAIVKEPEINTTLQMRFFG
KRGQRKLHYKEFRRFMENLQTEIQEMEFLQFSKGLSFMRKEDFAEWLLFFTNTENKDIYW
KNVREKLSAGESISLDEFKSFCHFTTHLEDFAIAMQMFSLAHRPVRLAEFKRAVKVATGQ
ELSNNILDTVFKIFDLDGDECLSHEEFLGVLKNRMHRGLWVPQHQSIQEYWKCVKKESIK
GVKEVWKQAGKGLF

Sequence length

434

Interactions

View interactions

	Reactome
			Mitochondrial calcium ion transport Processing of SMDT1

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICU2-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASE	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MITOCHONDRIAL DISEASES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (4)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Impaired cognition	Impaired Cognition	BEFREE	29053821		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	29053821		★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	34189138, 34847839	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Young onset Parkinson disease	Parkinson disease	BEFREE	30242232		★★★★★ ★☆☆☆☆ Found in Text Mining only

MICU2 (mitochondrial calcium uptake 2)