Gene table of COA6 : cytochrome c oxidase assembly factor 6

Gene-disease associations table

Disease ID	Disease name	Source of annotation with COA6	OMIM link	Number of associated genes	genes
616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 4	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	COA6

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
metal ion binding	GO:0046872	1.41
binding	GO:0005488	0.18
nucleic acid binding	GO:0003676	1.44
heterocyclic compound binding	GO:1901363	1.06
oxidoreductase activity	GO:0016491	3.12
cation binding	GO:0043169	1.4
transition metal ion binding	GO:0046914	2.48
transmembrane transporter activity	GO:0022857	2.82
ion binding	GO:0043167	1.36
copper ion binding	GO:0005507	5.71
heme-copper terminal oxidase activity	GO:0015002	6.34
cytochrome-c oxidase activity	GO:0004129	6.34
transporter activity	GO:0005215	2.57
poly(A) RNA binding	GO:0044822	2.69
cation transmembrane transporter activity	GO:0008324	3.32
catalytic activity	GO:0003824	1.05
electron carrier activity	GO:0009055	4.97
substrate-specific transmembrane transporter activity	GO:0022891	2.9
inorganic cation transmembrane transporter activity	GO:0022890	3.49
substrate-specific transporter activity	GO:0022892	2.72
organic cyclic compound binding	GO:0097159	1.05
ion transmembrane transporter activity	GO:0015075	3.04
monovalent inorganic cation transmembrane transporter activity	GO:0015077	3.87
oxidoreductase activity, acting on a heme group of donors, oxygen as acceptor	GO:0016676	6.34
RNA binding	GO:0003723	2.36
protein binding	GO:0005515	0.46
oxidoreductase activity, acting on a heme group of donors	GO:0016675	6.3
hydrogen ion transmembrane transporter activity	GO:0015078	5.01