Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	50
Gene name Gene Name - the full gene name approved by the HGNC.	Aconitase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ACO2
Synonyms (NCBI Gene) Gene synonyms aliases	ACONM, HEL-S-284, ICRD, OCA8, OPA9
Chromosome Chromosome number	22
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	22q13.2
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(7)

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

Show/Hide all(149)

miRTarBase ID	miRNA	Experiments
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

Show/Hide all(22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003994	Function	Aconitate hydratase activity	IBA
GO:0003994	Function	Aconitate hydratase activity	IEA
GO:0005506	Function	Iron ion binding	IDA	9630632
GO:0005506	Function	Iron ion binding	TAS	9630632
GO:0005739	Component	Mitochondrion	HDA	20833797
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	TAS	9630632
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	IBA
GO:0006091	Process	Generation of precursor metabolites and energy	TAS	9630632
GO:0006099	Process	Tricarboxylic acid cycle	IBA
GO:0006099	Process	Tricarboxylic acid cycle	IDA	9630632
GO:0006099	Process	Tricarboxylic acid cycle	IEA
GO:0006101	Process	Citrate metabolic process	IDA	9630632
GO:0006101	Process	Citrate metabolic process	TAS	9630632
GO:0016829	Function	Lyase activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IBA
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IEA

MIM	HGNC	e!Ensembl
100850	118	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

Interactions

View interactions

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Cerebellar-Retinal Degeneration	infantile cerebellar-retinal degeneration	rs1114167284, rs1601927180, rs1601936467, rs786200924, rs786204828, rs786204829, rs786204830	N/A
Optic Atrophy	optic atrophy	rs786204830	N/A

Show/Hide Unknown Diseases (10)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Asthma	Age of onset of childhood onset asthma, Asthma (childhood onset), Asthma	N/A	N/A	GWAS
Breast Cancer	Breast cancer	N/A	N/A	GWAS
Crohn Disease	Crohn's disease	N/A	N/A	GWAS
Fatal Mitochondrial Disease	Mitochondrial disease	N/A	N/A	ClinVar
Inflammatory Bowel Disease	Inflammatory bowel disease	N/A	N/A	GWAS
Insomnia	Insomnia	N/A	N/A	GWAS
Intermittent Porphyria	acute intermittent porphyria	N/A	N/A	ClinVar
Neuroticism	Neuroticism	N/A	N/A	GWAS
retinal dystrophy	Retinal dystrophy	N/A	N/A	ClinVar
Schizophrenia	Schizophrenia	N/A	N/A	GWAS

Show/Hide Text Mining Associations (46)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenoma Oxyphilic	Associate	30945144
Anxiety	Associate	32519519
Ataxia	Associate	28545339, 32519519
Atrophy	Associate	33028849
Breast Neoplasms	Inhibit	31819175
Cerebellar Diseases	Associate	28545339, 32519519, 33028849, 37460232
Congenital Abnormalities	Associate	26992325
Death	Associate	28545339, 32519519
Depressive Disorder	Associate	32519519
Diabetes Mellitus	Associate	36187097
Disease Progression	Associate	31106992
Dry Eye Syndromes	Associate	30312344
Epilepsy	Associate	28545339
Episodic Ataxia	Associate	32519519
Genetic Diseases Inborn	Associate	9630632
Hepatolenticular Degeneration	Associate	39809184
Heredodegenerative Disorders Nervous System	Associate	34354088
Immunoglobulin G4 Related Disease	Associate	28545339
Immunologic Deficiency Syndromes	Inhibit	26992325
Inflammation	Associate	33188782
Inflammatory Bowel Diseases	Associate	33188782
Intellectual Disability	Associate	28545339, 32519519, 33028849
Microphthalmia Syndromic 10	Associate	28545339
Mitochondrial Diseases	Associate	31106992, 33028849, 36738801
Motor Skills Disorders	Associate	28545339
Movement Disorders	Associate	9630632
Muscle Hypotonia	Associate	28545339, 32519519, 33028849
Muscular Atrophy Spinal	Associate	32519519
Neoplasms	Associate	22166000, 31819175
Nerve Degeneration	Associate	34354088
Neurodegenerative Diseases	Associate	28463998
Oculocutaneous albinism type 1	Associate	35163231
Optic Atrophy	Associate	28545339, 32519519, 33028849
Optic Atrophy Autosomal Dominant	Associate	31509793, 38278202
Optic Nerve Diseases	Associate	34354088
Parkinson Disease	Associate	36593912, 9630632
Peripheral Nervous System Diseases	Associate	28545339
Polycystic Ovary Syndrome	Associate	34480296
Quadriplegia	Associate	32519519
Retinal Degeneration	Associate	26992325, 28463998, 28545339
Retinal Dystrophies	Associate	37460232
Retinitis Pigmentosa	Associate	28545339, 32519519
Seizures	Associate	32519519, 33028849
Sjogren's Syndrome	Associate	30312344
Tricarboxylic Acid Cycle Defect of	Associate	26992325
Varicocele	Associate	34975746

ACO2 (aconitase 2)