Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	54927
Gene name	Coiled-coil-helix-coiled-coil-helix domain containing 3
Gene symbol	CHCHD3
Synonyms (NCBI Gene)	MICOS19MINOS3Mic19PPP1R22
Chromosome	7
Chromosome location	7q32.3-q33
Summary	The protein encoded by this gene is an inner mitochondrial membrane scaffold protein. Absence of the encoded protein affects the structural integrity of mitochondrial cristae and leads to reductions in ATP production, cell growth, and oxygen consumption.

198

Show/Hide all (198)

miRTarBase ID	miRNA	Experiments	Reference
MIRT042475	hsa-miR-423-3p	CLASH	23622248
MIRT708515	hsa-miR-148a-5p	HITS-CLIP	19536157
MIRT708514	hsa-miR-3973	HITS-CLIP	19536157
MIRT708513	hsa-miR-520g-3p	HITS-CLIP	19536157
MIRT708512	hsa-miR-520h	HITS-CLIP	19536157
MIRT708511	hsa-miR-584-3p	HITS-CLIP	19536157
MIRT708510	hsa-miR-4277	HITS-CLIP	19536157
MIRT708509	hsa-miR-136-5p	HITS-CLIP	19536157
MIRT708508	hsa-miR-5581-3p	HITS-CLIP	19536157
MIRT708507	hsa-miR-515-5p	HITS-CLIP	19536157
MIRT708506	hsa-miR-519e-5p	HITS-CLIP	19536157
MIRT642791	hsa-miR-6800-3p	HITS-CLIP	23824327
MIRT642790	hsa-miR-3938	HITS-CLIP	23824327
MIRT642789	hsa-miR-3183	HITS-CLIP	23824327
MIRT642788	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT642787	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT642785	hsa-miR-4513	HITS-CLIP	23824327
MIRT642786	hsa-miR-6855-3p	HITS-CLIP	23824327
MIRT642784	hsa-miR-6857-3p	HITS-CLIP	23824327
MIRT642783	hsa-miR-2115-5p	HITS-CLIP	23824327
MIRT642782	hsa-miR-623	HITS-CLIP	23824327
MIRT642781	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT642780	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT642779	hsa-miR-3136-5p	HITS-CLIP	23824327
MIRT642777	hsa-miR-4439	HITS-CLIP	23824327
MIRT642778	hsa-miR-3977	HITS-CLIP	23824327
MIRT642776	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT642775	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT642774	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT708515	hsa-miR-148a-5p	HITS-CLIP	19536157
MIRT708514	hsa-miR-3973	HITS-CLIP	19536157
MIRT708513	hsa-miR-520g-3p	HITS-CLIP	19536157
MIRT708512	hsa-miR-520h	HITS-CLIP	19536157
MIRT708511	hsa-miR-584-3p	HITS-CLIP	19536157
MIRT708510	hsa-miR-4277	HITS-CLIP	19536157
MIRT708509	hsa-miR-136-5p	HITS-CLIP	19536157
MIRT708508	hsa-miR-5581-3p	HITS-CLIP	19536157
MIRT708507	hsa-miR-515-5p	HITS-CLIP	19536157
MIRT708506	hsa-miR-519e-5p	HITS-CLIP	19536157
MIRT642791	hsa-miR-6800-3p	HITS-CLIP	23824327
MIRT642790	hsa-miR-3938	HITS-CLIP	23824327
MIRT642789	hsa-miR-3183	HITS-CLIP	23824327
MIRT642788	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT642787	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT642785	hsa-miR-4513	HITS-CLIP	23824327
MIRT642786	hsa-miR-6855-3p	HITS-CLIP	23824327
MIRT642784	hsa-miR-6857-3p	HITS-CLIP	23824327
MIRT642783	hsa-miR-2115-5p	HITS-CLIP	23824327
MIRT642782	hsa-miR-623	HITS-CLIP	23824327
MIRT642781	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT642780	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT642779	hsa-miR-3136-5p	HITS-CLIP	23824327
MIRT642777	hsa-miR-4439	HITS-CLIP	23824327
MIRT642778	hsa-miR-3977	HITS-CLIP	23824327
MIRT642776	hsa-miR-4755-5p	HITS-CLIP	23824327
MIRT642775	hsa-miR-5006-3p	HITS-CLIP	23824327
MIRT642774	hsa-miR-6885-3p	HITS-CLIP	23824327
MIRT888657	hsa-miR-125a-5p	CLIP-seq
MIRT888658	hsa-miR-125b	CLIP-seq
MIRT888659	hsa-miR-1291	CLIP-seq
MIRT888660	hsa-miR-1323	CLIP-seq
MIRT888661	hsa-miR-185	CLIP-seq
MIRT888662	hsa-miR-203	CLIP-seq
MIRT888663	hsa-miR-328	CLIP-seq
MIRT888664	hsa-miR-3922-5p	CLIP-seq
MIRT888665	hsa-miR-4306	CLIP-seq
MIRT888666	hsa-miR-4319	CLIP-seq
MIRT888667	hsa-miR-4446-3p	CLIP-seq
MIRT888668	hsa-miR-4644	CLIP-seq
MIRT888669	hsa-miR-4721	CLIP-seq
MIRT888670	hsa-miR-4732-3p	CLIP-seq
MIRT888671	hsa-miR-548k	CLIP-seq
MIRT888672	hsa-miR-548o	CLIP-seq
MIRT888673	hsa-miR-670	CLIP-seq
MIRT1963394	hsa-miR-197	CLIP-seq
MIRT1963395	hsa-miR-760	CLIP-seq
MIRT2199831	hsa-miR-127-3p	CLIP-seq
MIRT2199832	hsa-miR-1279	CLIP-seq
MIRT2199833	hsa-miR-149	CLIP-seq
MIRT2199834	hsa-miR-205	CLIP-seq
MIRT2199835	hsa-miR-3064-5p	CLIP-seq
MIRT2199836	hsa-miR-3157-5p	CLIP-seq
MIRT2199837	hsa-miR-361-5p	CLIP-seq
MIRT2199838	hsa-miR-3940-5p	CLIP-seq
MIRT2199839	hsa-miR-3976	CLIP-seq
MIRT2199840	hsa-miR-4290	CLIP-seq
MIRT2199841	hsa-miR-4297	CLIP-seq
MIRT2199842	hsa-miR-4423-5p	CLIP-seq
MIRT2199843	hsa-miR-4506	CLIP-seq
MIRT2199844	hsa-miR-4507	CLIP-seq
MIRT2199845	hsa-miR-4691-3p	CLIP-seq
MIRT2199846	hsa-miR-4794	CLIP-seq
MIRT1963395	hsa-miR-760	CLIP-seq
MIRT2385999	hsa-miR-3545-5p	CLIP-seq
MIRT2386000	hsa-miR-4460	CLIP-seq
MIRT2386001	hsa-miR-942	CLIP-seq
MIRT2502438	hsa-miR-105	CLIP-seq
MIRT2502439	hsa-miR-1229	CLIP-seq
MIRT2502440	hsa-miR-1236	CLIP-seq
MIRT888657	hsa-miR-125a-5p	CLIP-seq
MIRT888658	hsa-miR-125b	CLIP-seq
MIRT2199831	hsa-miR-127-3p	CLIP-seq
MIRT888659	hsa-miR-1291	CLIP-seq
MIRT888660	hsa-miR-1323	CLIP-seq
MIRT2502441	hsa-miR-140-5p	CLIP-seq
MIRT2199833	hsa-miR-149	CLIP-seq
MIRT2502442	hsa-miR-200b	CLIP-seq
MIRT2502443	hsa-miR-200c	CLIP-seq
MIRT888662	hsa-miR-203	CLIP-seq
MIRT2502444	hsa-miR-2964a-5p	CLIP-seq
MIRT2502445	hsa-miR-3064-3p	CLIP-seq
MIRT2199835	hsa-miR-3064-5p	CLIP-seq
MIRT2502446	hsa-miR-3145-5p	CLIP-seq
MIRT2502447	hsa-miR-3148	CLIP-seq
MIRT888663	hsa-miR-328	CLIP-seq
MIRT2502448	hsa-miR-335	CLIP-seq
MIRT2502449	hsa-miR-338-3p	CLIP-seq
MIRT2385999	hsa-miR-3545-5p	CLIP-seq
MIRT2502450	hsa-miR-3591-5p	CLIP-seq
MIRT2502451	hsa-miR-3671	CLIP-seq
MIRT888664	hsa-miR-3922-5p	CLIP-seq
MIRT2199838	hsa-miR-3940-5p	CLIP-seq
MIRT2502452	hsa-miR-3943	CLIP-seq
MIRT2502453	hsa-miR-4279	CLIP-seq
MIRT2502454	hsa-miR-4286	CLIP-seq
MIRT2502455	hsa-miR-429	CLIP-seq
MIRT2199840	hsa-miR-4290	CLIP-seq
MIRT2502456	hsa-miR-4305	CLIP-seq
MIRT2502457	hsa-miR-4307	CLIP-seq
MIRT888666	hsa-miR-4319	CLIP-seq
MIRT2502458	hsa-miR-4323	CLIP-seq
MIRT2386000	hsa-miR-4460	CLIP-seq
MIRT2502459	hsa-miR-4496	CLIP-seq
MIRT2199843	hsa-miR-4506	CLIP-seq
MIRT2199844	hsa-miR-4507	CLIP-seq
MIRT2502460	hsa-miR-4530	CLIP-seq
MIRT2502461	hsa-miR-4727-3p	CLIP-seq
MIRT888670	hsa-miR-4732-3p	CLIP-seq
MIRT2502462	hsa-miR-4753-3p	CLIP-seq
MIRT2502463	hsa-miR-4758-3p	CLIP-seq
MIRT2502464	hsa-miR-4775	CLIP-seq
MIRT2199846	hsa-miR-4794	CLIP-seq
MIRT2502465	hsa-miR-526b	CLIP-seq
MIRT888672	hsa-miR-548o	CLIP-seq
MIRT2502466	hsa-miR-593	CLIP-seq
MIRT2502467	hsa-miR-607	CLIP-seq
MIRT888673	hsa-miR-670	CLIP-seq
MIRT1963395	hsa-miR-760	CLIP-seq
MIRT2502468	hsa-miR-888	CLIP-seq
MIRT2386001	hsa-miR-942	CLIP-seq
MIRT2502438	hsa-miR-105	CLIP-seq
MIRT2502439	hsa-miR-1229	CLIP-seq
MIRT2502440	hsa-miR-1236	CLIP-seq
MIRT888657	hsa-miR-125a-5p	CLIP-seq
MIRT888658	hsa-miR-125b	CLIP-seq
MIRT2199831	hsa-miR-127-3p	CLIP-seq
MIRT888659	hsa-miR-1291	CLIP-seq
MIRT888660	hsa-miR-1323	CLIP-seq
MIRT2502441	hsa-miR-140-5p	CLIP-seq
MIRT2199833	hsa-miR-149	CLIP-seq
MIRT888662	hsa-miR-203	CLIP-seq
MIRT2502444	hsa-miR-2964a-5p	CLIP-seq
MIRT2502445	hsa-miR-3064-3p	CLIP-seq
MIRT2199835	hsa-miR-3064-5p	CLIP-seq
MIRT2502446	hsa-miR-3145-5p	CLIP-seq
MIRT888663	hsa-miR-328	CLIP-seq
MIRT2502449	hsa-miR-338-3p	CLIP-seq
MIRT2385999	hsa-miR-3545-5p	CLIP-seq
MIRT2502450	hsa-miR-3591-5p	CLIP-seq
MIRT2502451	hsa-miR-3671	CLIP-seq
MIRT888664	hsa-miR-3922-5p	CLIP-seq
MIRT2199838	hsa-miR-3940-5p	CLIP-seq
MIRT2502452	hsa-miR-3943	CLIP-seq
MIRT2502453	hsa-miR-4279	CLIP-seq
MIRT2502454	hsa-miR-4286	CLIP-seq
MIRT2199840	hsa-miR-4290	CLIP-seq
MIRT2502456	hsa-miR-4305	CLIP-seq
MIRT2502457	hsa-miR-4307	CLIP-seq
MIRT888666	hsa-miR-4319	CLIP-seq
MIRT2502458	hsa-miR-4323	CLIP-seq
MIRT2386000	hsa-miR-4460	CLIP-seq
MIRT2502459	hsa-miR-4496	CLIP-seq
MIRT2199843	hsa-miR-4506	CLIP-seq
MIRT2199844	hsa-miR-4507	CLIP-seq
MIRT2502460	hsa-miR-4530	CLIP-seq
MIRT2502461	hsa-miR-4727-3p	CLIP-seq
MIRT888670	hsa-miR-4732-3p	CLIP-seq
MIRT2502462	hsa-miR-4753-3p	CLIP-seq
MIRT2502463	hsa-miR-4758-3p	CLIP-seq
MIRT2502464	hsa-miR-4775	CLIP-seq
MIRT2199846	hsa-miR-4794	CLIP-seq
MIRT2502465	hsa-miR-526b	CLIP-seq
MIRT888672	hsa-miR-548o	CLIP-seq
MIRT2502466	hsa-miR-593	CLIP-seq
MIRT2502467	hsa-miR-607	CLIP-seq
MIRT888673	hsa-miR-670	CLIP-seq
MIRT1963395	hsa-miR-760	CLIP-seq
MIRT2386001	hsa-miR-942	CLIP-seq

Show/Hide all (30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001401	Component	SAM complex	HDA	26477565
GO:0005515	Function	Protein binding	IPI	16189514, 19389623, 21081504, 22228767, 25416956, 30021884, 32296183, 32814053, 33961781, 36950384
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	25781180, 25997101
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	ISS
GO:0005743	Component	Mitochondrial inner membrane	NAS	25997101
GO:0007007	Process	Inner mitochondrial membrane organization	IBA
GO:0007007	Process	Inner mitochondrial membrane organization	IC	26477565
GO:0007007	Process	Inner mitochondrial membrane organization	IMP	21081504
GO:0008053	Process	Mitochondrial fusion	IMP	21081504
GO:0016020	Component	Membrane	IEA
GO:0019902	Function	Phosphatase binding	IDA	19389623
GO:0042407	Process	Cristae formation	IMP	25781180, 32567732, 33130824
GO:0042407	Process	Cristae formation	NAS	25997101
GO:0044284	Component	Mitochondrial crista junction	NAS	25997101
GO:0060090	Function	Molecular adaptor activity	IEA
GO:0060090	Function	Molecular adaptor activity	ISS
GO:0061617	Component	MICOS complex	HDA	26477565
GO:0061617	Component	MICOS complex	IBA
GO:0061617	Component	MICOS complex	IDA	25781180, 25997101
GO:0061617	Component	MICOS complex	IEA
GO:0061617	Component	MICOS complex	NAS	25997101
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0140275	Component	MIB complex	HDA	26477565

MIM	HGNC	e!Ensembl
613748	21906	ENSG00000106554

Q9NX63

Protein name

MICOS complex subunit MIC19 (Coiled-coil-helix-coiled-coil-helix domain-containing protein 3)

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
PF05300	DUF737	15 → 58		Family
PF05300	DUF737	54 → 175		Family

Tissue specificity

TISSUE SPECIFICITY: Detected at low levels in brain, placenta, lung, liver, kidney and pancreas with increased levels in heart and skeletal muscle. Higher expression in primary lung cancers than in normal lung tissue. {ECO:0000269|PubMed:22567091}.

Sequence

MGGTTSTRRVTFEADENENITVVKGIRLSENVIDRMKESSPSGSKSQRYSGAYGASVSDE
ELKRRVAEELALEQAKKESEDQKRLKQAKELDRERAAANEQLTRAILRERICSEEERAKA
KHLARQLEEKDRVLKKQDAFYKEQLARLEERSSEFYRVTTEQYQKAAEEVEAKFKRYESH
PVCADLQAKILQCYRENTHQTLKCSALATQYMHCVNHAKQSMLEKGG

Sequence length

227

Interactions

View interactions

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)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (2)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
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

CHCHD3 (coiled-coil-helix-coiled-coil-helix domain containing 3)