• Gene id: 50

Gene Summary

• Gene Symbol: ACO2   Gene   UCSC   Ensembl
• Aliases: ACONM, HEL-S-284, ICRD, OCA8, OPA9
• Gene name: aconitase 2
• Alternate names: aconitate hydratase, mitochondrial, aconitase 2, mitochondrial, citrate hydro-lyase, epididymis secretory sperm binding protein Li 284, mitochondrial aconitase,
• Gene location: 22q13.2 (41468755: 41528978)     Exons: 19     NC_000022.11
• Gene summary(Entrez): 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
• OMIM: 100850

SNPs

rs397515393

Strand:    Allele origin:   Allele change:   Mutation type: del

NC_000017.11   g.80039966del
NC_000017.10   g.78013765del
NG_029761.1   g.8335del
NM_017950.4   c.248del
NM_017950.3   c.248del
NM_001330508.2   c.248del
NM_001330508.1   c.248del
NM_001243342.1   c.248del
XM_011524963.3   c.158del
XM_011524965.3   c.248del
XR_934495.2  

rs113994148

Strand:    Allele origin:   Allele change:   Mutation type: del

NC_000011.10   g.66849026_66849027del
NC_000011.9   g.66616497_66616498del
NG_008319.1   g.114350_114351del
NM_000920.4   c.3409_3410del
NM_000920.3   c.3409_3410del
NM_022172.3   c.3409_3410del
NM_022172.2   c.3409_3410del
NM_001040716.2   c.3409_3410del
NM_0010407  

rs113994147

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.66850398G>A
NC_000011.9   g.66617869G>A
NG_008319.1   g.112979C>T
NM_000920.4   c.2540C>T
NM_000920.3   c.2540C>T
NM_022172.3   c.2540C>T
NM_022172.2   c.2540C>T
NM_001040716.2   c.2540C>T
NM_001040716.1   c.2540C>T
XM_005274031.4   c.2540C>T
XM_0052740  

rs113994146

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.66851149G>T
NC_000011.9   g.66618620G>T
NG_008319.1   g.112228C>A
NM_000920.4   c.2114C>A
NM_000920.3   c.2114C>A
NM_022172.3   c.2114C>A
NM_022172.2   c.2114C>A
NM_001040716.2   c.2114C>A
NM_001040716.1   c.2114C>A
XM_005274031.4   c.2114C>A
XM_0052740  

rs113994145

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.66851880C>T
NC_000011.9   g.66619351C>T
NG_008319.1   g.111497G>A
NM_000920.4   c.1892G>A
NM_000920.3   c.1892G>A
NM_022172.3   c.1892G>A
NM_022172.2   c.1892G>A
NM_001040716.2   c.1892G>A
NM_001040716.1   c.1892G>A
XM_005274031.4   c.1892G>A
XM_0052740  

rs113994144

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.66852559T>C
NC_000011.9   g.66620030T>C
NG_008319.1   g.110818A>G
NM_000920.4   c.1705A>G
NM_000920.3   c.1705A>G
NM_022172.3   c.1705A>G
NM_022172.2   c.1705A>G
NM_001040716.2   c.1705A>G
NM_001040716.1   c.1705A>G
XM_005274031.4   c.1705A>G
XM_0052740  

rs113994143

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.66863791G>A
NC_000011.9   g.66631262G>A
NG_008319.1   g.99586C>T
NM_000920.4   c.1351C>T
NM_000920.3   c.1351C>T
NM_022172.3   c.1351C>T
NM_022172.2   c.1351C>T
NM_001040716.2   c.1351C>T
NM_001040716.1   c.1351C>T
XM_005274031.4   c.1351C>T
XM_00527403  

rs113994141

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.66871824G>A
NC_000011.9   g.66639295G>A
NG_008319.1   g.91553C>T
NM_000920.4   c.184C>T
NM_000920.3   c.184C>T
NM_022172.3   c.184C>T
NM_022172.2   c.184C>T
NM_001040716.2   c.184C>T
NM_001040716.1   c.184C>T
XM_005274031.4   c.184C>T
XM_005274031.1   c.1

rs28940591

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.66871368A>C
NC_000011.10   g.66871368A>G
NC_000011.9   g.66638839A>C
NC_000011.9   g.66638839A>G
NG_008319.1   g.92009T>G
NG_008319.1   g.92009T>C
NM_000920.4   c.434T>G
NM_000920.4   c.434T>C
NM_000920.3   c.434T>G
NM_000920.3   c.434T>C
NM_022172.3   c.

rs28940590

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.66850918C>A
NC_000011.9   g.66618389C>A
NG_008319.1   g.112459G>T
NM_000920.4   c.2229G>T
NM_000920.3   c.2229G>T
NM_022172.3   c.2229G>T
NM_022172.2   c.2229G>T
NM_001040716.2   c.2229G>T
NM_001040716.1   c.2229G>T
XM_005274031.4   c.2229G>T
XM_0052740  

rs28940589

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.66851944C>T
NC_000011.9   g.66619415C>T
NG_008319.1   g.111433G>A
NM_000920.4   c.1828G>A
NM_000920.3   c.1828G>A
NM_022172.3   c.1828G>A
NM_022172.2   c.1828G>A
NM_001040716.2   c.1828G>A
NM_001040716.1   c.1828G>A
XM_005274031.4   c.1828G>A
XM_0052740  

rs12088543

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000001.11   g.84252300T>C
NC_000001.10   g.84717983T>C|SEQ=[T/C]|GENE=LOC107985046

rs7104156

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000011.10   g.66871781T>A
NC_000011.9   g.66639252T>A
NG_008319.1   g.91596A>T
NM_000920.4   c.227A>T
NM_000920.3   c.227A>T
NM_022172.3   c.227A>T
NM_022172.2   c.227A>T
NM_001040716.2   c.227A>T
NM_001040716.1   c.227A>T
XM_005274031.4   c.227A>T
XM_005274031.1   c.2

rs3816183

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.42788579T>C
NC_000002.11   g.43015719T>C
XM_005264230.4   c.109A>G
XM_005264230.1   c.109A>G
XM_011532730.3   c.7A>G
XM_011532729.3   c.109A>G
XM_011532731.3   c.109A>G
NM_012205.3   c.109A>G
NM_012205.2   c.109A>G
XM_017003717.2   c.7A>G
XM_024452774.1  

rs3741843

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.10938833C>A
NC_000012.12   g.10938833C>G
NC_000012.12   g.10938833C>T
NC_000012.11   g.11091432C>A
NC_000012.11   g.11091432C>G
NC_000012.11   g.11091432C>T
NT_187658.1   g.137539C>A
NT_187658.1   g.137539C>G
NT_187658.1   g.137539C>T
NW_003571050.1   g

rs2303846

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000015.10   g.82544529G>A
NC_000015.9   g.82828937G>A
NG_009890.2   g.1016C>T
NT_187606.1   g.333634G>A
NM_030594.4   c.*63C>T
NM_030594.5   c.*63C>T
NM_030594.3   c.*63C>T
NM_001365240.1   c.*63C>T
NM_001288819.1   c.*63C>T
NM_001365242.1   c.*63C>T
NM_001365246.1   c

rs718772

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.30108218A>C
NC_000022.11   g.30108218A>G
NC_000022.10   g.30504207A>C
NC_000022.10   g.30504207A>G|SEQ=[A/C/G]|GENE=HORMAD2

rs4758680

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.122170805T>A
NC_000012.12   g.122170805T>G
NC_000012.11   g.122655352T>A
NC_000012.11   g.122655352T>G|SEQ=[T/A/G]|GENE=LRRC43

rs11763979

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.141762737G>A
NC_000007.14   g.141762737G>T
NC_000007.13   g.141462537G>A
NC_000007.13   g.141462537G>T|SEQ=[G/A/T]|GENE=TAS2R3

rs8135823

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.30126470T>G
NC_000022.10   g.30522459T>G|SEQ=[T/G]|GENE=HORMAD2

rs11090601

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.30171741A>C
NC_000022.10   g.30567730A>C|SEQ=[A/C]|GENE=HORMAD2

rs4823073

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.30116269G>A
NC_000022.10   g.30512258G>A|SEQ=[G/A]|GENE=HORMAD2

rs9620953

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.30150256C>T
NC_000022.10   g.30546245C>T|SEQ=[C/T]|GENE=HORMAD2

rs9625930

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.30152633G>A
NC_000022.10   g.30548622G>A|SEQ=[G/A]|GENE=HORMAD2

rs975704

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000022.11   g.30176747G>A
NC_000022.10   g.30572736G>A
NM_152510.3   c.*580G>A
NM_152510.4   c.*580G>A
NM_152510.2   c.*580G>A
XM_011529917.3   c.*580G>A
NM_001329457.1   c.*580G>A
NM_001329457.2   c.*580G>A
NM_001329458.1   c.*580G>A
NM_001329458.2   c.*580G>A|SEQ=[

rs2291102

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000010.11   g.3148507G>A
NC_000010.10   g.3190699G>A
NG_052908.1   g.29335C>T
NR_038284.1   n.3954G>A|SEQ=[G/A]|GENE=PITRM1
PITRM1-AS1   100507034

rs4541736

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000006.12   g.40722258C>A
NC_000006.12   g.40722258C>G
NC_000006.12   g.40722258C>T
NC_000006.11   g.40689997C>A
NC_000006.11   g.40689997C>G
NC_000006.11   g.40689997C>T|SEQ=[C/A/G/T]|GENE=LOC105375052

rs1237691411

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000012.12   g.101737863A>G
NC_000012.11   g.102131641A>G
NG_021181.1   g.6607T>C
NM_153694.4   c.73T>C
NM_001177949.2   c.73T>C
NM_001177949.1   c.73T>C
NM_001177948.1   c.73T>C
XM_005268922.5   c.313T>C
XM_005268922.1   c.313T>C
XM_005268926.4   c.73T>C
XM_005268926  

Protein Summary

• Protein general information: Q99798  
  • Name: Aconitate hydratase, mitochondrial (Aconitase) (EC 4.2.1.3) (Citrate hydro lyase)
  • Length: 780  
  • Mass: 85425
• Sequence:

  MAPYSLLVTRLQKALGVRQYHVASVLCQRAKVAMSHFEPNEYIHYDLLEKNINIVRKRLNRPLTLSEKIVYGHLD
  DPASQEIERGKSYLRLRPDRVAMQDATAQMAMLQFISSGLSKVAVPSTIHCDHLIEAQVGGEKDLRRAKDINQEV
  YNFLATAGAKYGVGFWKPGSGIIHQIILENYAYPGVLLIGTDSHTPNGGGLGGICIGVGGADAVDVMAGIPWELK
  CPKVIGVKLTGSLSGWSSPKDVILKVAGILTVKGGTGAIVEYHGPGVDSISCTGMATICNMGAEIGATTSVFPYN
  HRMKKYLSKTGREDIANLADEFKDHLVPDPGCHYDQLIEINLSELKPHINGPFTPDLAHPVAEVGKVAEKEGWPL
  DIRVGLIGSCTNSSYEDMGRSAAVAKQALAHGLKCKSQFTITPGSEQIRATIERDGYAQILRDLGGIVLANACGP
  CIGQWDRKDIKKGEKNTIVTSYNRNFTGRNDANPETHAFVTSPEIVTALAIAGTLKFNPETDYLTGTDGKKFRLE
  APDADELPKGEFDPGQDTYQHPPKDSSGQHVDVSPTSQRLQLLEPFDKWDGKDLEDLQILIKVKGKCTTDHISAA
  GPWLKFRGHLDNISNNLLIGAINIENGKANSVRNAVTQEFGPVPDTARYYKKHGIRWVVIGDENYGEGSSREHAA
  LEPRHLGGRAIITKSFARIHETNLKKQGLLPLTFADPADYNKIHPVDKLTIQGLKDFTPGKPLKCIIKHPNGTQE
  TILLNHTFNETQIEWFRAGSALNRMKELQQ

• Structural information:
  • Interpro: IPR015931  IPR001030  IPR015928  IPR018136  IPR036008   IPR015932  IPR006248  IPR000573  
  • Prosite: PS00450 PS01244
  • STRING: ENSP00000216254
• Other Databases: GeneCards:  ACO2  Malacards:  ACO2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003994	aconitate hydratase activity	IBA	molecular function
GO:0005739	mitochondrion	IBA	cellular component
GO:0005829	cytosol	IBA	cellular component
GO:0006099	tricarboxylic acid cycle	IBA	biological process
GO:0051539	4 iron, 4 sulfur cluster binding	IBA	molecular function
GO:0006099	tricarboxylic acid cycle	IEA	biological process
GO:0051539	4 iron, 4 sulfur cluster binding	IEA	molecular function
GO:0003994	aconitate hydratase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016829	lyase activity	IEA	molecular function
GO:0006099	tricarboxylic acid cycle	IEA	biological process
GO:0051539	4 iron, 4 sulfur cluster binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0051536	iron-sulfur cluster binding	IEA	molecular function
GO:0005506	iron ion binding	TAS	molecular function
GO:0005739	mitochondrion	TAS	cellular component
GO:0006091	generation of precursor metabolites and energy	TAS	biological process
GO:0006101	citrate metabolic process	TAS	biological process
GO:0047780	citrate dehydratase activity	IEA	molecular function
GO:0003994	aconitate hydratase activity	IEA	molecular function
GO:0006101	citrate metabolic process	IDA	biological process
GO:0006099	tricarboxylic acid cycle	IDA	biological process
GO:0005506	iron ion binding	IDA	molecular function
GO:0003994	aconitate hydratase activity	EXP	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006099	tricarboxylic acid cycle	TAS	biological process
GO:0006101	citrate metabolic process	IEA	biological process
GO:0006099	tricarboxylic acid cycle	IEA	biological process
GO:0051539	4 iron, 4 sulfur cluster binding	IEA	molecular function
GO:0051538	3 iron, 4 sulfur cluster binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0003994	aconitate hydratase activity	IEA	molecular function
GO:0006102	isocitrate metabolic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0003994	aconitate hydratase activity	IEA	molecular function
GO:0001889	liver development	IEA	biological process
GO:0035900	response to isolation stress	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0006099	tricarboxylic acid cycle	IEA	biological process
GO:0005739	mitochondrion	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa01200	Carbon metabolism
hsa01230	Biosynthesis of amino acids
hsa00630	Glyoxylate and dicarboxylate metabolism
hsa00020	Citrate cycle
hsa01210	2-Oxocarboxylic acid metabolism

Diseases

Associated diseases	References
Optic atrophy	KEGG:H01020
Infantile cerebellar-retinal degeneration	KEGG:H02113
Optic atrophy	KEGG:H01020
Infantile cerebellar-retinal degeneration	KEGG:H02113
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)