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

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 125988
Gene name Mitochondrial contact site and cristae organizing system subunit 13
Gene symbol MICOS13
Synonyms (NCBI Gene)
C19orf70MIC12MIC13P117QIL1
Chromosome 19
Chromosome location 19p13.3
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (22)
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
616658 33702 ENSG00000174917
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Sequence length 118
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
9
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Combined oxidative phosphorylation deficiency 37 Pathogenic rs1064797230, rs1568293849 RCV000757975
RCV000757974
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Uncertain significance rs371995866 RCV005930598
MICOS13-related disorder Benign; Likely benign rs532140719, rs146797527, rs1362426855 RCV003916664
RCV003901984
RCV003934718
Mitochondrial hepato-encephalopathy Conflicting classifications of pathogenicity rs1568293814 RCV000754793
Show/Hide Text Mining Associations (8)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
3 Methylglutaconic Aciduria Associate 27485409
Brain Diseases Associate 32749073
Liver Diseases Associate 27623147
Mitochondrial Diseases Associate 27485409, 34271005
Mitochondrial encephalopathy Associate 27485409, 27623147, 34271005
Neurodegenerative Diseases Associate 27485409
Spinocerebellar Ataxia 29 Associate 27485409
Visceral myopathy familial external ophthalmoplegia Associate 32749073