Gene table of OPA1 : OPA1, mitochondrial dynamin like GTPase

Gene-disease associations table

Disease ID	Disease name	Source of annotation with OPA1	OMIM link	Number of associated genes	genes
PS603041	MITOCHONDRIAL DNA DEPLETION SYNDROME	OMIM	link to OMIM	14	SLC25A4, AGK, C10orf2, FBXL4, SUCLG1, MGME1, POLG, MPV17, TK2, OPA1, SUCLA2, DGUOK, RRM2B, TYMP
PS256300	NEPHROTIC SYNDROME	ClinVar	link to OMIM	14	LAMB2, ADCK4, NUP205, NPHS1, OPA1, NPHS2, NUP93, NUP107, WT1, ARHGDIA, PTPRO, PLCE1, EMP2, DGKE
PS165500	OPTIC ATROPHY	ClinVar, OMIM, HUMSAVAR	link to OMIM	5	OPA3, ACO2, OPA1, RTN4IP1, TMEM126A
210000	BEHR SYNDROME	ClinVar, OMIM	link to OMIM	1	OPA1
606657	GLAUCOMA, NORMAL TENSION, SUSCEPTIBILITY TO	ClinVar, OMIM	link to OMIM	2	OPTN, OPA1
125250	OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	OPA1

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
purine ribonucleoside triphosphate binding	GO:0035639	2.22
binding	GO:0005488	0.18
nucleotide binding	GO:0000166	1.96
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
nucleoside binding	GO:0001882	2.21
cation binding	GO:0043169	1.4
pyrophosphatase activity	GO:0016462	3.04
magnesium ion binding	GO:0000287	4.41
ion binding	GO:0043167	1.36
guanyl ribonucleotide binding	GO:0032561	3.73
purine nucleoside binding	GO:0001883	2.22
ribonucleoside binding	GO:0032549	2.22
purine nucleotide binding	GO:0017076	2.19
metal ion binding	GO:0046872	1.41
GTP binding	GO:0005525	3.78
hydrolase activity	GO:0016787	1.9
GTPase activity	GO:0003924	4.31
nucleoside-triphosphatase activity	GO:0017111	3.09
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides	GO:0016818	3.03
carbohydrate derivative binding	GO:0097367	2.03
organic cyclic compound binding	GO:0097159	1.05
hydrolase activity, acting on acid anhydrides	GO:0016817	3.03
guanyl nucleotide binding	GO:0019001	3.73
protein binding	GO:0005515	0.46
purine ribonucleotide binding	GO:0032555	2.2
purine ribonucleoside binding	GO:0032550	2.22
ribonucleotide binding	GO:0032553	2.19