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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ACO2 Gene

protein-coding GIFtS: 66
GCID: GC22P041865

aconitase 2, mitochondrial

Explore 21 diseases affiliated with
ACO2 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Aconitase 2, Mitochondrial¹ ²		ICRD²
ACONM¹ ²		Aconitate Hydratase, Mitochondrial²
Citrate Hydro-Lyase² ³		Aconitase³
EC 4.2.1.3³ ⁸		EC 4.2.1⁸

External Ids:	HGNC: 118¹	Entrez Gene: 50²	Ensembl: ENSG00000100412⁷	OMIM: 100850⁵	UniProtKB: Q99798³

Export aliases for ACO2 gene to outside databases

Previous GC identifers: GC22P038479 GC22P040108 GC22P040189 GC22P024830

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ACO2:

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 functions in the mitochondrion. It was found to be one of the mitochondrial matrix proteins

that are preferentially degraded by the serine protease 15(PRSS15), also known as Lon protease, after oxidative

modification. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: ACON_HUMAN, Q99798

Function: Catalyzes the isomerization of citrate to isocitrate via cis-aconitate (By similarity)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000022.10 NC_018933.1 NT_011520.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ACO2 gene promoter:
AhR GR RFX1 C/EBPbeta AML1a STAT5A PPAR-gamma1 POU2F1 GR-alpha PPAR-gamma2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ACO2 promoter sequence

Search SABiosciences Chromatin IP Primers for ACO2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACO2

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q13.2 Ensembl cytogenetic band: 22q13.2 HGNC cytogenetic band: 22q13.2

ACO2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACO2 gene location

GeneLoc information about chromosome 22 GeneLoc Exon Structure

GeneLoc location for GC22P041865: view genomic region (about GC identifiers)

Start:	41,865,129 bp from pter	End:	41,924,993 bp from pter
Size:	59,865 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ACON_HUMAN, Q99798 (See protein sequence)

Recommended Name: Aconitate hydratase, mitochondrial precursor

Size: 780 amino acids; 85425 Da

Cofactor: Binds 1 4Fe-4S cluster per subunit. Binding of a 3Fe-4S cluster leads to an inactive enzyme (By similarity)

Subunit: Monomer (By similarity)

Subcellular location: Mitochondrion (By similarity)

Secondary accessions: O75809 Q5JZ41 Q6FHX0 Q8TAQ6

Explore the universe of human proteins at neXtProt for ACO2: NX_Q99798

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q99798

4/30 DME Specific Peptides for ACO2 (Q99798) (see all 30)

SYNRNFT

GSSREHA

YGHLDDP

VIGVKLTG

ACO2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_001089.1

ENSEMBL proteins:

ENSP00000216254 ENSP00000379769

Reactome Protein details: Q99798
Human Recombinant Protein Products for ACO2:

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	Uscn Proteins for ACO2

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	--
GO:0005739	mitochondrion	IDA	--
GO:0005759	mitochondrial matrix	TAS	--

ACO2 for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ACO2 for domains About GeneDecksing

5/8 InterPro domains/families (see all 8):

IPR001030 Acoase/IPM_deHydtase_lsu_aba

IPR018136 Aconitase_4Fe-4S_BS

IPR000573 AconitaseA/IPMdHydase_ssu_swvl

IPR015932 Aconitase/IPMdHydase_lsu_aba_2

IPR006248 Aconitase_mito-like

Graphical View of Domain Structure for InterPro Entry Q99798

ProtoNet protein and cluster: Q99798

2 Blocks protein families:

IPB000573 Aconitate hydratase

IPB001030 Aconitate hydratase

UniProtKB/Swiss-Prot: ACON_HUMAN, Q99798

Similarity: Belongs to the aconitase/IPM isomerase family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: ACON_HUMAN, Q99798

Function: Catalyzes the isomerization of citrate to isocitrate via cis-aconitate (By similarity)

Catalytic activity: Citrate = isocitrate

Genatlas biochemistry entry for ACO2:

aconitase 2,iron sulfur protein,catalyzing the mitochondrial,second step of citric acid cycle,ubiquitously

expressed,including multiple isoforms

Enzyme Numbers (IUBMB): EC 4.2.1.3¹ ² EC 4.2.1²

Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003994	aconitate hydratase activity	--	--
GO:0005506	iron ion binding	IDA	9630632
GO:0005515	protein binding	--	--
GO:0051538	3 iron, 4 sulfur cluster binding	IEA	--
GO:0051539	4 iron, 4 sulfur cluster binding	IEA	--

ACO2 for ontologies About GeneDecksing

Phenotypes:
1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Aco2):

no phenotypic analysis

ACO2 for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for ACO2

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		SwitchGear 3'UTR luciferase reporter plasmid: ACO2 3' UTR sequence

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACO2

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

TCA Cycle

	TCA Cycle	1.00			Pyruvate metabolism and Citric Acid (TCA) cycle	0.64
	Citrate cycle (TCA cycle)	0.65

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

TCA cycle II (eukaryotic)

TCA cycle II (eukaryotic)

1.00

Citric acid cycle (TCA cycle)

0.67

Glucose / Energy Metabolism

Glucose / Energy Metabolism

1.00

Mitochondrial Protein Import

Mitochondrial Protein Import

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 Cell Signaling Technology (CST) Pathway for ACO2

Glucose / Energy Metabolism

2 BioSystems Pathways for ACO2

	TCA cycle II (eukaryotic)
	TCA Cycle

5/6 Reactome Pathways for ACO2 (see all 6)

	Pyruvate metabolism and Citric Acid (TCA) cycle
	Metabolism
	Mitochondrial Protein Import
	Citric acid cycle (TCA cycle)
	Metabolism of proteins

3 Kegg Pathways (Kegg details for ACO2):

	Citrate cycle (TCA cycle)
	Glyoxylate and dicarboxylate metabolism
	Metabolic pathways

UniProtKB/Swiss-Prot: ACON_HUMAN, Q99798

Pathway: Carbohydrate metabolism; tricarboxylic acid cycle; isocitrate from oxaloacetate: step 2/2

ACO2 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for ACO2

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/236 Interacting proteins for ACO2 (Q99798^{2, 3} ENSP00000216254⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 236)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HIST1H4A	P62805³	I2D: score=1
HIST1H4B	P62805³	I2D: score=1
HIST1H4C	P62805³	I2D: score=1
HIST1H4D	P62805³	I2D: score=1
HIST1H4E	P62805³	I2D: score=1

About this table

Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006091	generation of precursor metabolites and energy	TAS	9630632
GO:0006099	tricarboxylic acid cycle	TAS	--
GO:0006101	citrate metabolic process	IDA	9630632
GO:0006102	isocitrate metabolic process	IEA	--
GO:0008219	cell death	IEA	--

ACO2 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

ACO2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ACO2

6 HMDB Compounds for ACO2 About this table

Compound	Synonyms	CAS #	PubMed Ids
Citric acid	2-Hydroxy-1,2,3-propanetricarboxylate (see all 20)	77-92-9	--
Iron	Armco iron (see all 19)	7439-89-6	--
Isocitric acid	1-Hydroxy-1,2,3-propanetricarboxylate (see all 15)	320-77-4	--
Sulfide	Sulfide (see all 4)	18496-25-8	--
Water	Dihydrogen oxide (see all 2)	7732-18-5	--
cis-Aconitic acid	(1Z)-1-Propene-1,2,3-tricarboxylate (see all 18)	585-84-2	--

5 DrugBank Compounds for ACO2 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
4-Hydroxy-Aconitate Ion	--	--	target	--	17139284 17016423 10592235
Aconitate Ion	--	--	target	--	17139284 17016423 10592235
Alpha-Methylisocitric Acid	--	--	target	--	17139284 17016423 10592235
Isocitric Acid	--	320-77-4	target	--	17139284 17016423 10592235
Tricarballylic Acid	--	--	target	--	17139284 17016423 10592235

2 Novoseek chemical compound relationships for ACO2 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
pyruvate	34.1	1	11681208 (1)
glutamate	12.2	1	16637010 (1)

Search CenterWatch for drugs/clinical trials and news about ACO2 / ACON

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ACO2 gene:

NM_001098.2

Unigene Cluster for ACO2:

Aconitase 2, mitochondrial

Hs.643610 [show with all ESTs]

Unigene Representative Sequence: BC014092

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000216254(uc003bac.3) ENST00000396512 ENST00000471094 ENST00000482208

ENST00000478010 ENST00000481310 ENST00000466237

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		6 QIAGEN miScript miRNA Assays for microRNAs that regulate ACO2:
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Additional cDNA sequence:

AK293562.1 AK296260.1 AK297213.1 AK301321.1 AK302691.1 AK314845.1 BC014092.2 BC026196.2

BC127658.1 BC127659.1 CR456365.1 CR536568.1 U80040.1

24/47 DOTS entries (see all 47):

DT.420057 DT.97820748 DT.100891526 DT.95195997 DT.100891551 DT.100758261 DT.100891513 DT.100891519

DT.100891524 DT.100891528 DT.40114844 DT.75125607 DT.95302501 DT.100759825 DT.100891509 DT.100891539

DT.100891546 DT.100891547 DT.420055 DT.87078063 DT.92457677 DT.92457691 DT.97855757 DT.100026962

24/889 AceView cDNA sequences (see all 889):

BX451060 CR613743 BC014092 BX464977 BX457836 BQ894362 AI150888 CR456365

CB269755 BQ961424 AI085953 BM667428 AI554773 CD368031 BM555127 CA419829

CR614581 T31100 BX105248 AA363904 BM453415 BU727840 BM849867 BM471282

GeneLoc Exon Structure

5/6 Alternative Splicing Database (ASD) splice patterns (SP) for ACO2 (see all 6) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	^	2	^	3	^	4	^	5	^	6a	·	6b	·	6c	^	7a	·	7b	^	8a	·	8b	^	9	^	10	^	11
SP1:							-												-		-
SP2:							-
SP3:																			-		-
SP4:
SP5:							-						-		-		-		-		-		-		-		-		-		-		-

ECgene alternative splicing isoforms for ACO2

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ACO2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAACTGTATT

About this image

ACO2 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

6 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Gut Tube

Midgut

Midgut Endoderm Cells

Endoderm

Ovary

Primary Follicle

Primary Oocyte

Female Gametocytes, Germ Cells

Spinal Cord

Spinal Ventral Columns

Ventral Spinal Cord Progenitor Cells

Motor Neurons

Gut Tube

Kidney

Spinal Ventral Columns

Spinal Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See ACO2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ACO2

SOURCE GeneReport for Unigene cluster: Hs.643610

SABiosciences Expression via Pathway-Focused PCR Arrays including ACO2:

Molecular Toxicology PathwayFinder 384HT in human mouse rat

Glucose Metabolism in human mouse rat

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the last universal common ancestor (LUCA).

Orthologs for ACO2 gene from 10/40 species (see all 40) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	ACO2¹	aconitase 2, mitochondrial	80.98(n) 91.67(a)		374009 NM_204188.2 NP_989519.1
lizard (Anolis carolinensis)	Reptilia	ACO2⁶ --	--	89(a) 83(a)	1 ↔ many 1 ↔ many	5(26503809-26521662) 5(46582600-46583531)
African clawed frog (Xenopus laevis)	Amphibia	BC046860.1²	--	78.42(n)		BC046860.1
zebrafish (Danio rerio)	Actinopterygii	aco2²	aconitase 2, mitochondrial	79.69(n)		322670 BC058049.1
fruit fly (Drosophila melanogaster)	Insecta	CG4706³ Acon¹	aconitate hydratase³ Aconitase¹	70(a)³ 69.81(n)¹ 72.77(a)¹		44149¹ NM_079969.4¹ NP_524708.1¹
worm (Caenorhabditis elegans)	Secernentea	aco-2^{1 , 3}	Aconitate hydratase³ Protein ACO-2¹	75(a)³ 67.38(n)¹ 75.6(a)¹		III(8045471-8048704)³ 176121¹ NM_171200.3¹ NP_741235.1¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	ACO1(YLR304C)⁴ ACO1¹	Aconitase, required for the tricarboxylic acid (TCA) more⁴ Aco1p¹	62.19(n)¹ 67.37(a)¹		12(737548-735212)⁴ 851013^{1, 4} NP_013407.1^{1, 4}
thale cress (Arabidopsis thaliana)	eudicotyledons	IIL1⁶	3-isopropylmalate dehydratase	19(a)	1 ↔ 1	4(7803933-7807871)
rice (Oryza sativa)	Liliopsida	--	3-isopropylmalate dehydratase large subunit 2, put...	20(a)	1 ↔ 1	2(1304820-1309845)
E. coli (Escherichia coli)	Gamma proteobacteria	leuC⁶ ybhJ⁶ (see all 3)	predicted hydratase (see all 3)	21(a) 19(a) (see all 3)	possible ortholog possible ortholog (see all 3)	Chromosome(79464-80864) Chromosome(802726-804987)

ENSEMBL Gene Tree for ACO2 (if available)
TreeFam Gene Tree for ACO2 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for ACO2 gene

IREB2² ACO1²

1 SIMAP similar gene for ACO2 using alignment to 3 protein entries: ACON_HUMAN (see all proteins):

ACON

ACO2 for paralogs About GeneDecksing

4 Pseudogenes.org Pseudogenes for ACO2
PGOHUM00000261320 PGOHUM00000246318 PGOHUM00000235281 PGOHUM00000249453

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 22 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs145693596^1,2		--	41863256(+)	`TTCCCC/TTGCAT`	2	--	int¹ us2k¹		0	--	--	--	--
rs190559480^1,2		--	41863385(+)	`GGAGAC/TTGCAG`	2	--	us2k¹ int¹		0	--	--	--	--
rs202631^1,2	C,F,A,H	--	41863423(-)	`ACCTTC/TCCTCC`	2	--	us2k¹ int¹ tfbs³ trp³		23		NS EA NA WA CSA EU	3632
rs182267678^1,2	C	--	41863427(+)	`GAAAGA/GTCAGA`	2	--	us2k¹ int¹		0	--	--	--	--
rs150112406^1,2	C	--	41863682(+)	`CCATG-/GGGAAATAT ACTAGTCTCCTGGGAA`	2	--	us2k¹ int¹		0	--	--	--	--
rs11705068^1,2	C,A,H	--	41863690(+)	`AAATAC/TACTAG`	2	--	int¹ us2k¹		0	--	--	--	--
rs200678616^1,2	C	--	41863703(-)	`ATTTCA/CCAGGA`	2	--	int¹ us2k¹		0	--	--	--	--
rs73887725^1,2	C	--	41863773(+)	`TTTCCC/ACAGTG`	2	--	int¹ us2k¹		2		WA	120
rs75341251^1,2	F	--	41863777(+)	`CCCAGT/GGTCCA`	2	--	int¹ us2k¹		1		WA	118
rs61736535^1,2	F	--	41864052(+)	`CCTCTT/CTGTGG`	2	--	us2k¹ int¹		2		NS WA	196

HapMap Linkage Disequilibrium report for ACO2 (41865129 - 41924993 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for ACO2
3 CNVs: 50867 50866 5189
Human Gene Mutation Database (HGMD): ACO2

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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ACO2 for disorders About GeneDecksing

OMIM gene information: 100850 OMIM disorders: --

UniProtKB/Swiss-Prot: ACON_HUMAN, Q99798

Defects in ACO2 are the cause of infantile cerebellar-retinal degeneration (ICRD) [MIM:614559]. A severe

autosomal recessive neurodegenerative disorder characterized by onset between ages 2 and 6 months of truncal

hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration.

Affected individuals show profound psychomotor retardation, with only some achieving rolling, sitting, or recognition

of family. Brain MRI shows progressive cerebral and cerebellar degeneration

20/21 diseases for ACO2 (see all 21): About MalaCards

iron overload friedreich ataxia cystic fibrosis down syndrome

endocarditis ataxia fibrosis alzheimer's disease

prostate carcinoma colorectal cancer lung cancer obesity

prostatitis schizophrenia tuberculosis carcinoma

pancreatitis athetosis retinal degeneration mycobacterium tuberculosis

Human Genome Epidemiology (HuGE) Navigator: ACO2 (1 document)

Export disorders for ACO2 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for ACO2 gene, integrated from 9 sources (see all 58):
(articles sorted by number of sources associating them with ACO2)

Utopia: connect your pdf to the dynamic
world of online information

The DNA sequence of human chromosome 22. (PubMed id 10591208)^{1, 2, 3} Dunham I....O'Brien K.P. (1999)
Characterization of the human mitochondrial aconitase gene (ACO2). (PubMed id 9630632)^{1, 2, 9} Mirel D.B....Wilhelmsen K.C. (1998)
Infantile Cerebellar-Retinal Degeneration Associated with a Mutation in Mitochondrial Aconitase, ACO2. (PubMed id 22405087)^{1, 2} Spiegel R....Elpeleg O. (2012)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)^{1, 2} Collins J.E.... Dunham I. (2004)
Purification and partial amino acid sequence of human aconitase. (PubMed id 1946331)^{1, 2} Baldwin G.S.... Simpson R. (1991)
A census of human soluble protein complexes. (PubMed id 22939629)¹ Havugimana P.C....Emili A. (2012)
Initial characterization of the human central proteome. (PubMed id 21269460)² Burkard T.R.... Colinge J. (2011)
A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)¹ Wagner S.A....Choudhary C. (2011)
p53 downregulates the gene expression of mitochondria l aconitase in human prostate carcinoma cells. (PubMed id 20607720)¹ Tsui K.H....Juang H.H. (2011)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 50	HGNC: 118	AceView: ACO2	Ensembl:ENSG00000100412	euGenes: HUgn50
ECgene: ACO2	Kegg: 50	H-InvDB: ACO2

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for ACO2	Pharmacogenomics, SNPs, Pathways
Wikipedia	http://en.wikipedia.org/wiki/Aconitase

Intellectual Property for ACO2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for ACO2 gene:
Search GeneIP for patents involving ACO2

GeneCards and IP:
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