ACO2 (aconitase 2)

Gene

• Entrez ID: 50
• Gene name: Aconitase 2
• Gene symbol: ACO2
• Synonyms: ACONM, HEL-S-284, ICRD, OCA8, OPA9
• Chromosome: 22
• Chromosome location: 22q13.2
• Summary: The protein encoded by this gene belongs to the aconitase/IPM isomerase family. It is an enzyme that catalyzes the interconversion of citrate to isocitrate via cis-aconitate in the second step of the TCA cycle. This protein is encoded in the nucleus and f

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs141772938	C>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity, pathogenic, likely-benign	Coding sequence variant, missense variant
rs150129663	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs747330606	G>T	Pathogenic	Splice donor variant
rs761368190	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs786200924	C>G	Pathogenic	Missense variant, coding sequence variant
rs786204828	G>A	Pathogenic	Missense variant, coding sequence variant
rs1601927180	G>T	Likely-pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT762851	hsa-miR-1228	CLIP-seq
MIRT762852	hsa-miR-1231	CLIP-seq
MIRT762853	hsa-miR-184	CLIP-seq
MIRT762854	hsa-miR-3652	CLIP-seq
MIRT762855	hsa-miR-3663-5p	CLIP-seq
MIRT762856	hsa-miR-3673	CLIP-seq
MIRT762857	hsa-miR-432	CLIP-seq
MIRT762858	hsa-miR-4430	CLIP-seq
MIRT762859	hsa-miR-4476	CLIP-seq
MIRT762860	hsa-miR-4505	CLIP-seq
MIRT762861	hsa-miR-4786-3p	CLIP-seq
MIRT762862	hsa-miR-4804-5p	CLIP-seq
MIRT762863	hsa-miR-654-3p	CLIP-seq
MIRT762864	hsa-miR-671-5p	CLIP-seq
MIRT762865	hsa-miR-939	CLIP-seq
MIRT1924878	hsa-miR-127-3p	CLIP-seq
MIRT1924879	hsa-miR-183	CLIP-seq
MIRT1924880	hsa-miR-3160-3p	CLIP-seq
MIRT1924881	hsa-miR-4539	CLIP-seq
MIRT1924882	hsa-miR-4633-3p	CLIP-seq
MIRT762851	hsa-miR-1228	CLIP-seq
MIRT1924878	hsa-miR-127-3p	CLIP-seq
MIRT1924879	hsa-miR-183	CLIP-seq
MIRT762853	hsa-miR-184	CLIP-seq
MIRT2166078	hsa-miR-1908	CLIP-seq
MIRT2166079	hsa-miR-3180	CLIP-seq
MIRT2166080	hsa-miR-3180-3p	CLIP-seq
MIRT2166081	hsa-miR-3196	CLIP-seq
MIRT2166082	hsa-miR-3612	CLIP-seq
MIRT762854	hsa-miR-3652	CLIP-seq
MIRT762855	hsa-miR-3663-5p	CLIP-seq
MIRT762856	hsa-miR-3673	CLIP-seq
MIRT2166083	hsa-miR-3960	CLIP-seq
MIRT762857	hsa-miR-432	CLIP-seq
MIRT762858	hsa-miR-4430	CLIP-seq
MIRT762859	hsa-miR-4476	CLIP-seq
MIRT762860	hsa-miR-4505	CLIP-seq
MIRT2166084	hsa-miR-4704-3p	CLIP-seq
MIRT2166085	hsa-miR-4706	CLIP-seq
MIRT2166086	hsa-miR-4749-5p	CLIP-seq
MIRT762861	hsa-miR-4786-3p	CLIP-seq
MIRT762862	hsa-miR-4804-5p	CLIP-seq
MIRT2166087	hsa-miR-650	CLIP-seq
MIRT2166088	hsa-miR-663	CLIP-seq
MIRT762864	hsa-miR-671-5p	CLIP-seq
MIRT2166089	hsa-miR-744	CLIP-seq
MIRT762859	hsa-miR-4476	CLIP-seq
MIRT2166085	hsa-miR-4706	CLIP-seq
MIRT2166086	hsa-miR-4749-5p	CLIP-seq
MIRT2443038	hsa-miR-1251	CLIP-seq
MIRT2443039	hsa-miR-203	CLIP-seq
MIRT2443040	hsa-miR-205	CLIP-seq
MIRT2443041	hsa-miR-2117	CLIP-seq
MIRT2443042	hsa-miR-3157-5p	CLIP-seq
MIRT2443043	hsa-miR-3605-3p	CLIP-seq
MIRT2443044	hsa-miR-383	CLIP-seq
MIRT2443045	hsa-miR-4269	CLIP-seq
MIRT2443046	hsa-miR-4320	CLIP-seq
MIRT2443047	hsa-miR-4417	CLIP-seq
MIRT2443048	hsa-miR-4514	CLIP-seq
MIRT2443049	hsa-miR-4684-5p	CLIP-seq
MIRT2443050	hsa-miR-4691-3p	CLIP-seq
MIRT2443051	hsa-miR-4692	CLIP-seq
MIRT2443052	hsa-miR-4696	CLIP-seq
MIRT2166085	hsa-miR-4706	CLIP-seq
MIRT2443053	hsa-miR-4722-5p	CLIP-seq
MIRT2443054	hsa-miR-4742-5p	CLIP-seq
MIRT2166086	hsa-miR-4749-5p	CLIP-seq
MIRT2443055	hsa-miR-4768-3p	CLIP-seq
MIRT2443056	hsa-miR-4772-5p	CLIP-seq
MIRT2443057	hsa-miR-4781-5p	CLIP-seq
MIRT2443058	hsa-miR-483-3p	CLIP-seq
MIRT2443059	hsa-miR-500a	CLIP-seq
MIRT2443060	hsa-miR-502-5p	CLIP-seq
MIRT2443061	hsa-miR-578	CLIP-seq
MIRT2443062	hsa-miR-668	CLIP-seq
MIRT762865	hsa-miR-939	CLIP-seq
MIRT2443063	hsa-miR-940	CLIP-seq
MIRT2443038	hsa-miR-1251	CLIP-seq
MIRT2443039	hsa-miR-203	CLIP-seq
MIRT2443040	hsa-miR-205	CLIP-seq
MIRT2443041	hsa-miR-2117	CLIP-seq
MIRT2443042	hsa-miR-3157-5p	CLIP-seq
MIRT2443044	hsa-miR-383	CLIP-seq
MIRT2443045	hsa-miR-4269	CLIP-seq
MIRT2443046	hsa-miR-4320	CLIP-seq
MIRT2443048	hsa-miR-4514	CLIP-seq
MIRT2443049	hsa-miR-4684-5p	CLIP-seq
MIRT2443050	hsa-miR-4691-3p	CLIP-seq
MIRT2443051	hsa-miR-4692	CLIP-seq
MIRT2443052	hsa-miR-4696	CLIP-seq
MIRT2443053	hsa-miR-4722-5p	CLIP-seq
MIRT2443054	hsa-miR-4742-5p	CLIP-seq
MIRT2443055	hsa-miR-4768-3p	CLIP-seq
MIRT2443056	hsa-miR-4772-5p	CLIP-seq
MIRT2443059	hsa-miR-500a	CLIP-seq
MIRT2443060	hsa-miR-502-5p	CLIP-seq
MIRT2443061	hsa-miR-578	CLIP-seq
MIRT2443063	hsa-miR-940	CLIP-seq
MIRT762852	hsa-miR-1231	CLIP-seq
MIRT2443038	hsa-miR-1251	CLIP-seq
MIRT2166078	hsa-miR-1908	CLIP-seq
MIRT2443041	hsa-miR-2117	CLIP-seq
MIRT2166079	hsa-miR-3180	CLIP-seq
MIRT2166080	hsa-miR-3180-3p	CLIP-seq
MIRT2166081	hsa-miR-3196	CLIP-seq
MIRT2443043	hsa-miR-3605-3p	CLIP-seq
MIRT2166082	hsa-miR-3612	CLIP-seq
MIRT762855	hsa-miR-3663-5p	CLIP-seq
MIRT2166083	hsa-miR-3960	CLIP-seq
MIRT2443046	hsa-miR-4320	CLIP-seq
MIRT2443047	hsa-miR-4417	CLIP-seq
MIRT2443049	hsa-miR-4684-5p	CLIP-seq
MIRT2443052	hsa-miR-4696	CLIP-seq
MIRT2166085	hsa-miR-4706	CLIP-seq
MIRT2166086	hsa-miR-4749-5p	CLIP-seq
MIRT2443057	hsa-miR-4781-5p	CLIP-seq
MIRT2443058	hsa-miR-483-3p	CLIP-seq
MIRT2443059	hsa-miR-500a	CLIP-seq
MIRT2443060	hsa-miR-502-5p	CLIP-seq
MIRT2443061	hsa-miR-578	CLIP-seq
MIRT2166087	hsa-miR-650	CLIP-seq
MIRT762863	hsa-miR-654-3p	CLIP-seq
MIRT2166088	hsa-miR-663	CLIP-seq
MIRT2443062	hsa-miR-668	CLIP-seq
MIRT2166089	hsa-miR-744	CLIP-seq
MIRT762865	hsa-miR-939	CLIP-seq
MIRT762852	hsa-miR-1231	CLIP-seq
MIRT2166078	hsa-miR-1908	CLIP-seq
MIRT2166079	hsa-miR-3180	CLIP-seq
MIRT2166080	hsa-miR-3180-3p	CLIP-seq
MIRT2166081	hsa-miR-3196	CLIP-seq
MIRT2443043	hsa-miR-3605-3p	CLIP-seq
MIRT2166082	hsa-miR-3612	CLIP-seq
MIRT2674268	hsa-miR-3613-3p	CLIP-seq
MIRT762855	hsa-miR-3663-5p	CLIP-seq
MIRT2166083	hsa-miR-3960	CLIP-seq
MIRT2443047	hsa-miR-4417	CLIP-seq
MIRT2166085	hsa-miR-4706	CLIP-seq
MIRT2166086	hsa-miR-4749-5p	CLIP-seq
MIRT2443057	hsa-miR-4781-5p	CLIP-seq
MIRT2443058	hsa-miR-483-3p	CLIP-seq
MIRT2674269	hsa-miR-582-5p	CLIP-seq
MIRT2166087	hsa-miR-650	CLIP-seq
MIRT762863	hsa-miR-654-3p	CLIP-seq
MIRT2166088	hsa-miR-663	CLIP-seq
MIRT2443062	hsa-miR-668	CLIP-seq
MIRT2166089	hsa-miR-744	CLIP-seq
MIRT762865	hsa-miR-939	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003994	Function	Aconitate hydratase activity	EXP	1052766
GO:0003994	Function	Aconitate hydratase activity	IBA	21873635
GO:0005506	Function	Iron ion binding	IDA	9630632
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	IBA	21873635
GO:0006091	Process	Generation of precursor metabolites and energy	TAS	9630632
GO:0006099	Process	Tricarboxylic acid cycle	IBA	21873635
GO:0006099	Process	Tricarboxylic acid cycle	IDA	9630632
GO:0006099	Process	Tricarboxylic acid cycle	IEA
GO:0006099	Process	Tricarboxylic acid cycle	TAS
GO:0006101	Process	Citrate metabolic process	IDA	9630632
GO:0047780	Function	Citrate dehydratase activity	IEA
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IBA	21873635

Other IDs

• MIM: 100850
• HGNC: 118
• e!Ensembl: ENSG00000100412

Protein

• UniProt ID: Q99798
• Protein name: Aconitate hydratase, mitochondrial (Aconitase) (EC 4.2.1.3) (Citrate hydro-lyase)
• Protein function: Catalyzes the isomerization of citrate to isocitrate via cis-aconitate.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00330	Aconitase	67 → 503	Aconitase family (aconitate hydratase)	Family
  PF00694	Aconitase_C	582 → 712	Aconitase C-terminal domain	Domain

• Sequence:

  MAPYSLLVTRLQKALGVRQYHVASVLCQRAKVAMSHFEPNEYIHYDLLEKNINIVRKRLN
  RPLTLSEKIVYGHLDDPASQEIERGKSYLRLRPDRVAMQDATAQMAMLQFISSGLSKVAV
  PSTIHCDHLIEAQVGGEKDLRRAKDINQEVYNFLATAGAKYGVGFWKPGSGIIHQIILEN
  YAYPGVLLIGTDSHTPNGGGLGGICIGVGGADAVDVMAGIPWELKCPKVIGVKLTGSLSG
  WSSPKDVILKVAGILTVKGGTGAIVEYHGPGVDSISCTGMATICNMGAEIGATTSVFPYN
  HRMKKYLSKTGREDIANLADEFKDHLVPDPGCHYDQLIEINLSELKPHINGPFTPDLAHP
  VAEVGKVAEKEGWPLDIRVGLIGSCTNSSYEDMGRSAAVAKQALAHGLKCKSQFTITPGS
  EQIRATIERDGYAQILRDLGGIVLANACGPCIGQWDRKDIKKGEKNTIVTSYNRNFTGRN
  DANPETHAFVTSPEIVTALAIAGTLKFNPETDYLTGTDGKKFRLEAPDADELPKGEFDPG
  QDTYQHPPKDSSGQHVDVSPTSQRLQLLEPFDKWDGKDLEDLQILIKVKGKCTTDHISAA
  GPWLKFRGHLDNISNNLLIGAINIENGKANSVRNAVTQEFGPVPDTARYYKKHGIRWVVI
  GDENYGEGSSREHAALEPRHLGGRAIITKSFARIHETNLKKQGLLPLTFADPADYNKIHP
  VDKLTIQGLKDFTPGKPLKCIIKHPNGTQETILLNHTFNETQIEWFRAGSALNRMKELQQ
  

• Sequence length: 780