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

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
125988
Gene name Gene Name - the full gene name approved by the HGNC.
Mitochondrial contact site and cristae organizing system subunit 13
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MICOS13
Synonyms (NCBI Gene) Gene synonyms aliases
C19orf70, MIC12, MIC13, P117, QIL1
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.3
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
616658 33702 ENSG00000174917
Protein
Gene Gene ontology Other IDs Protein Associated diseases
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
Sequence length 118
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
combined oxidative phosphorylation deficiency Combined oxidative phosphorylation deficiency 37 rs1064797230, rs1568293849 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
3-Methylglutaconic aciduria 3-methylglutaconic aciduria type 3 N/A N/A GenCC
Mitochondrial Diseases mitochondrial disease N/A N/A GenCC
Show/Hide Text Mining Associations (8)
Associations from Text Mining Disease 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