Gene table of COX15 : COX15, cytochrome c oxidase assembly homolog

Gene-disease associations table

Disease IDDisease nameSource of annotation with COX15OMIM linkNumber of associated genesgenes
256000LEIGH SYNDROMEOMIM, HUMSAVAR link to OMIM 27MT-ND5, NDUFAF2, NDUFA12, NDUFAF6, NDUFV1, NDUFA10, MTFMT, NDUFS8, BCS1L, SDHA, MT-CO3, COX10, NDUFA2, ECHS1, NDUFS3, MT-ATP6, SURF1, MT-ND3, IARS2, NARS2, NDUFS7, COX15, NDUFAF5, POLG, FOXRED1, NDUFS4, NDUFA9
615119CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME C OXIDASE DEFICIENCY 2ClinVar, OMIM, HUMSAVAR link to OMIM 1COX15
PS601462MYASTHENIC SYNDROME, CONGENITALClinVar link to OMIM 23LRP4, CHRNE, DOK7, CHRNB1, CHAT, COX10, COLQ, COL13A1, DPAGT1, ALG14, MUSK, AGRN, SNAP25, SURF1, GFPT1, CHRNA1, RAPSN, CHRND, SCN4A, TACO1, SYT2, COX15, ALG2

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Annotation of the gene COX15

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 pathwayKEGG IDKEGG IC
Porphyrin and chlorophyll metabolismhsa008607.41
Metabolic pathwayshsa011002.49
Oxidative phosphorylationhsa001905.69
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
Heme biosynthesisR-HSA-1894519.52
MetabolismR-HSA-14307282.34
Metabolism of porphyrinsR-HSA-1894458.89
Associated GO terms for Molecular function
GO termGO IDGO IC
substrate-specific transmembrane transporter activityGO:00228912.9
inorganic cation transmembrane transporter activityGO:00228903.49
substrate-specific transporter activityGO:00228922.72
transporter activityGO:00052152.57
oxidoreductase activity, acting on the CH-CH group of donorsGO:00166275.66
cation transmembrane transporter activityGO:00083243.32
cytochrome-c oxidase activityGO:00041296.34
transmembrane transporter activityGO:00228572.82
ion transmembrane transporter activityGO:00150753.04
catalytic activityGO:00038241.05
monovalent inorganic cation transmembrane transporter activityGO:00150773.87
oxidoreductase activity, acting on a heme group of donors, oxygen as acceptorGO:00166766.34
oxidoreductase activity, acting on NAD(P)HGO:00166515.13
oxidoreductase activity, acting on NAD(P)H, heme protein as acceptorGO:00166537.44
oxidoreductase activity, acting on a heme group of donorsGO:00166756.3
oxidoreductase activityGO:00164913.12
hydrogen ion transmembrane transporter activityGO:00150785.01
heme-copper terminal oxidase activityGO:00150026.34
electron carrier activityGO:00090554.97