Gene Gene information from NCBI Gene database.
Entrez ID 10989
Gene name Inner membrane mitochondrial protein
Gene symbol IMMT
Synonyms (NCBI Gene)
HMPMICOS60MINOS2Mic60P87P87/89P89PIG4PIG52
Chromosome 2
Chromosome location 2p11.2|2
miRNA miRNA information provided by mirtarbase database.
155
miRTarBase ID miRNA Experiments Reference
MIRT025510 hsa-miR-34a-5p Proteomics 21566225
MIRT025510 hsa-miR-34a-5p Proteomics 21566225
MIRT050824 hsa-miR-17-5p CLASH 23622248
MIRT040039 hsa-miR-615-3p CLASH 23622248
MIRT039513 hsa-miR-652-3p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
GO ID Ontology Definition Evidence Reference
GO:0001401 Component SAM complex HDA 26477565
GO:0003723 Function RNA binding HDA 22658674
GO:0005515 Function Protein binding IPI 16169070, 17043677, 20880836, 21081504, 21900206, 22228767, 25764979, 25959826, 26168012, 26666268, 29128334, 30021884, 31379806, 31413325, 31644573, 32814053, 36127429
GO:0005739 Component Mitochondrion HDA 20833797
GO:0005739 Component Mitochondrion HTP 34800366
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600378 6047 ENSG00000132305
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q16891
Protein name MICOS complex subunit MIC60 (Cell proliferation-inducing gene 4/52 protein) (Mitochondrial inner membrane protein) (Mitofilin) (p87/89)
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
PF09731 Mitofilin 41 746 Mitochondrial inner membrane protein Family
Sequence
Sequence length 758
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
See cases Uncertain significance rs748333563 RCV001838850
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 31583841
Adenocarcinoma of Lung Associate 31583841
Adenoma Associate 38139086
Breast Neoplasms Associate 36899366
Carcinoma Pancreatic Ductal Associate 36223343
Carcinoma Renal Cell Associate 37240154
Colorectal Neoplasms Associate 23594796
Inflammation Associate 36223343
Neoplasms Associate 19887603, 31583841
Neoplasms Inhibit 36223343