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

Gene

• Entrez ID: 84303
• Gene name: Coiled-coil-helix-coiled-coil-helix domain containing 6
• Gene symbol: CHCHD6
• Synonyms (NCBI Gene): CHCM1, MICOS25, Mic25, PPP1R23
• Chromosome: 3
• Chromosome location: 3q21.3

miRNA

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
MIRT888730	hsa-miR-4645-3p	CLIP-seq
MIRT2386002	hsa-miR-1207-5p	CLIP-seq
MIRT2386003	hsa-miR-4763-3p	CLIP-seq

Gene ontology (GO)

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
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	IMP	22228767
GO:0005743	Component	Mitochondrial inner membrane	IDA	22228767
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	NAS	25997101
GO:0005829	Component	Cytosol	IDA
GO:0006974	Process	DNA damage response	IBA
GO:0006974	Process	DNA damage response	IDA	22228767
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	22228767
GO:0042407	Process	Cristae formation	NAS	25997101
GO:0044284	Component	Mitochondrial crista junction	NAS	25997101
GO:0061617	Component	MICOS complex	HDA	26477565
GO:0061617	Component	MICOS complex	IDA	25781180, 25997101
GO:0061617	Component	MICOS complex	IEA
GO:0061617	Component	MICOS complex	NAS	25997101
GO:0140275	Component	MIB complex	HDA	26477565

Other IDs

• MIM: 615634
• HGNC: 28184
• e!Ensembl: ENSG00000159685

Protein

• 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

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
DIABETIC MACULOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	31264924		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	36982708	Associate	★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	37404133	Associate	★☆☆☆☆ Found in Text Mining only
Hypoplastic Left Heart Syndrome	Hypoplastic left heart syndrome	Pubtator	37404133	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Maculopathy with diabetes mellitus	Diabetic maculopathy	GWASCAT_DG	31264924		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	22228767		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	29361464		★☆☆☆☆ Found in Text Mining only