Gene table of COX4I2 : cytochrome c oxidase subunit 4I2

Gene-disease associations table

Disease ID	Disease name	Source of annotation with COX4I2	OMIM link	Number of associated genes	genes
612714	EXOCRINE PANCREATIC INSUFFICIENCY, DYSERYTHROPOIETIC ANEMIA, AND CALVARIAL HYPEROSTOSIS	OMIM, HUMSAVAR	link to OMIM	1	COX4I2

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

KEGG pathway	KEGG ID	KEGG IC
Oxidative phosphorylation	hsa00190	5.69
Cardiac muscle contraction	hsa04260	6.34
Metabolic pathways	hsa01100	2.49
Non-alcoholic fatty liver disease (NAFLD)	hsa04932	5.51
Huntington's disease	hsa05016	5.17
Alzheimer's disease	hsa05010	5.34
Parkinson's disease	hsa05012	5.59

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
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
transporter activity	GO:0005215	2.57
cation transmembrane transporter activity	GO:0008324	3.32
cytochrome-c oxidase activity	GO:0004129	6.34
transmembrane transporter activity	GO:0022857	2.82
ion transmembrane transporter activity	GO:0015075	3.04
catalytic activity	GO:0003824	1.05
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
oxidoreductase activity, acting on a heme group of donors	GO:0016675	6.3
oxidoreductase activity	GO:0016491	3.12
hydrogen ion transmembrane transporter activity	GO:0015078	5.01
heme-copper terminal oxidase activity	GO:0015002	6.34
electron carrier activity	GO:0009055	4.97