CHCHD6 (coiled-coil-helix-coiled-coil-helix domain containing 6)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84303
Gene name Gene Name - the full gene name approved by the HGNC.
Coiled-coil-helix-coiled-coil-helix domain containing 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CHCHD6
Synonyms (NCBI Gene) Gene synonyms aliases
CHCM1, MICOS25, Mic25, PPP1R23
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q21.3
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(8)
miRTarBase ID miRNA Experiments Reference
MIRT038493 hsa-miR-296-3p CLASH 23622248
MIRT888726 hsa-miR-1324 CLIP-seq
MIRT888727 hsa-miR-3685 CLIP-seq
MIRT888728 hsa-miR-384 CLIP-seq
MIRT888729 hsa-miR-3942-3p CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(24)
GO ID Ontology Definition Evidence Reference
GO:0001401 Component SAM complex HDA 26477565
GO:0005515 Function Protein binding IPI 22228767, 30021884, 32296183, 33961781
GO:0005739 Component Mitochondrion HTP 34800366
GO:0005739 Component Mitochondrion IBA
GO:0005739 Component Mitochondrion IDA 25781180, 25997101
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
615634 28184 ENSG00000159685
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q9BRQ6
Protein name MICOS complex subunit MIC25 (Coiled-coil-helix cristae morphology protein 1) (Coiled-coil-helix-coiled-coil-helix domain-containing protein 6)
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. {ECO:
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05300 DUF737 17 → 85 Family
PF05300 DUF737 82 → 189 Family
Sequence 
MGSTESSEGRRVSFGVDEEERVRVLQGVRLSENVVNRMKEPSSPPPAPTSSTFGLQDGNL
RAPHKESTLPRSGSSGGQQPSGMKEGVKRYEQEHAAIQDKLFQVAKREREAATKHSKASL
PTGEGSISHEEQKSVRLARELESREAELRRRDTFYKEQLERIERKNAEMYKLSSEQFHEA
ASKMESTIKPRRVEPVCSGLQAQILHCYRDRPHEVLLCSDLVKAYQRCVSAAHKG
Sequence length 235
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 miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (1)
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
Lung adenocarcinoma Familial squamous cell lung carcinoma N/A N/A GWAS
Show/Hide Text Mining Associations (4)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Glaucoma Associate 36982708
Heart Defects Congenital Associate 37404133
Hypoplastic Left Heart Syndrome Associate 37404133
Neoplasms Associate 22228767