MICOS13 (mitochondrial contact site and cristae organizing system subunit 13)

Gene

• Entrez ID: 125988
• Gene name: Mitochondrial contact site and cristae organizing system subunit 13
• Gene symbol: MICOS13
• Synonyms (NCBI Gene): C19orf70, MIC12, MIC13, P117, QIL1
• Chromosome: 19
• Chromosome location: 19p13.3

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001401	Component	SAM complex	HDA	26477565
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005654	Component	Nucleoplasm	IDA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IDA	25997101, 27184847
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	NAS	25997101
GO:0007007	Process	Inner mitochondrial membrane organization	IC	26477565
GO:0016020	Component	Membrane	IEA
GO:0042407	Process	Cristae formation	IBA
GO:0042407	Process	Cristae formation	IMP	25997101, 32567732
GO:0042407	Process	Cristae formation	NAS	25997101
GO:0044284	Component	Mitochondrial crista junction	IBA
GO:0044284	Component	Mitochondrial crista junction	IDA	25997101
GO:0044284	Component	Mitochondrial crista junction	NAS	25997101
GO:0061617	Component	MICOS complex	HDA	26477565
GO:0061617	Component	MICOS complex	IBA
GO:0061617	Component	MICOS complex	IDA	25997101
GO:0061617	Component	MICOS complex	NAS	25997101
GO:0140275	Component	MIB complex	HDA	26477565

Other IDs

• MIM: 616658
• HGNC: 33702
• e!Ensembl: ENSG00000174917

Protein

• UniProt ID: Q5XKP0
• Protein name: MICOS complex subunit MIC13 (Protein P117)
• Protein function: Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane (PubMe
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF15884	QIL1	25 → 105	MICOS complex subunit MIC13, QIL1	Family

• Sequence:

  MVARVWSLMRFLIKGSVAGGAVYLVYDQELLGPSDKSQAALQKAGEVVPPAMYQFSQYVC
  QQTGLQIPQLPAPPKIYFPIRDSWNAGIMTVMSALSVAPSKAREYSKEGWEYVKARTK

• Sequence length: 118

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Combined oxidative phosphorylation deficiency 37	Pathogenic	rs1064797230, rs1568293849	RCV000757975 RCV000757974	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
3-METHYLGLUTACONIC ACIDURIA TYPE 3	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MICOS13-related disorder	Benign; 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
Mitochondrial hepato-encephalopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Brain Diseases	Brain disease	Pubtator	32749073	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	27623147	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	27485409, 34271005	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	27623147		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mitochondrial encephalopathy	Mitochondrial encephalopathy	Pubtator	27485409, 27623147, 34271005	Associate	★☆☆☆☆ Found in Text Mining only
Mitochondrial encephalopathy	Mitochondrial encephalopathy	BEFREE	27623147		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	27485409	Associate	★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia 29	Spinocerebellar ataxia	Pubtator	27485409	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	30795627		★☆☆☆☆ Found in Text Mining only
Visceral myopathy familial external ophthalmoplegia	Visceral neuropathy	Pubtator	32749073	Associate	★☆☆☆☆ Found in Text Mining only