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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CS Gene

protein-coding GIFtS: 66
GCID: GC12M056666

citrate synthase

Explore 74 diseases affiliated with
CS 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
Citrate Synthase¹ ²
EC 2.3.3.1³ ⁸
Citrate Synthase, Mitochondrial²
EC 2.3.3⁸

External Ids:	HGNC: 2422¹	Entrez Gene: 1431²	Ensembl: ENSG00000062485⁷	OMIM: 118950⁵	UniProtKB: O75390³

Export aliases for CS gene to outside databases

Previous GC identifers: GC12M056540 GC12P056603 GC12M056382 GC12M054951 GC12M053704

(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 CS:

The protein encoded by this gene is a Krebs tricarboxylic acid cycle enzyme that catalyzes the synthesis of citrate

from oxaloacetate and acetyl coenzyme A. The enzyme is found in nearly all cells capable of oxidative metablism. This

protein is nuclear encoded and transported into the mitochondrial matrix, where the mature form is found. (provided by

RefSeq, Jul 2008)

(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_000012.11 NC_018923.1 NT_029419.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CS gene promoter:
GR PPAR-alpha GR-alpha Nkx2-5
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CS promoter sequence

Search SABiosciences Chromatin IP Primers for CS

Epigenetics:

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

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

Entrez Gene cytogenetic band: 12q13.2 Ensembl cytogenetic band: 12q13.3 HGNC cytogenetic band: 12q13.2

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

GeneLoc information about chromosome 12 GeneLoc Exon Structure

GeneLoc location for GC12M056666: view genomic region (about GC identifiers)

Start:	56,665,483 bp from pter	End:	56,694,176 bp from pter
Size:	28,694 bases	Orientation:	minus 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: CISY_HUMAN, O75390 (See protein sequence)

Recommended Name: Citrate synthase, mitochondrial precursor

Size: 466 amino acids; 51712 Da

Subunit: Homodimer (By similarity)

Subcellular location: Mitochondrion matrix

Miscellaneous: Citrate synthase is found in nearly all cells capable of oxidative metabolism

Sequence caution: Sequence=CAE45911.1; Type=Miscellaneous discrepancy; Note=Intron retention;

Secondary accessions: Q71UT9 Q7KZH0 Q96FZ8 Q9BWN8

Explore the universe of human proteins at neXtProt for CS: NX_O75390

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O75390

4/34 DME Specific Peptides for CS (O75390) (see all 34)

RLYLTIH

TALNSES

DPMFKLV

DLIPKEQ

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

REFSEQ proteins: NP_004068.2

ENSEMBL proteins:

ENSP00000449571 ENSP00000446779 ENSP00000342056 ENSP00000449080 ENSP00000440543

ENSP00000446492 ENSP00000449491 ENSP00000448667 ENSP00000450403 ENSP00000447986

ENSP00000450312 ENSP00000449025 ENSP00000450101 ENSP00000447442 ENSP00000449315

ENSP00000449427 ENSP00000448409 ENSP00000449753 ENSP00000448172 ENSP00000447948

ENSP00000447346 ENSP00000448166 ENSP00000447582

Reactome Protein details: O75390
Human Recombinant Protein Products for CS:

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	Novus Biologicals CS Proteins Novus Biologicals CS Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for CS

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

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

CS for ontologies About GeneDecksing

CS Antibody Products:

	EMD Millipore Mono- and Polyclonal Antibodies for the study of CS
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Assay Products for CS:

	Browse Kits and Assays available from EMD Millipore
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	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for CS

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

CS for domains About GeneDecksing

5 InterPro domains/families:

IPR016142 Citrate_synth-like_lrg_a-sub

IPR016141 Citrate_synthase-like_core

IPR019810 Citrate_synthase_AS

IPR010109 Citrate_synthase_euk

IPR002020 Citrate_synthase-like

Graphical View of Domain Structure for InterPro Entry O75390

ProtoNet protein and cluster: O75390

1 Blocks protein family: IPB002020 Citrate synthase

UniProtKB/Swiss-Prot: CISY_HUMAN, O75390

Similarity: Belongs to the citrate synthase 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: CISY_HUMAN, O75390

Catalytic activity: Acetyl-CoA + H(2)O + oxaloacetate = citrate + CoA

Genatlas biochemistry entry for CS:

citrate synthase,mitochondrial,catalyzing the first step of citric acid cycle

Enzyme Numbers (IUBMB): EC 2.3.3.1¹ ² EC 2.3.3²

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004108	citrate (Si)-synthase activity	TAS	--
GO:0046912	transferase activity, transferring acyl groups, acyl groups converted into alkyl on transfer	--	--

CS for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for CS:

Synthetic lethal with Ras

1 MGI mutant phenotype (inferred from 2 alleles) (MGI details for Cs):

hearing/vestibular/ear

CS for phenotypes About GeneDecksing

Animal Models:

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

miRNA Products:		OriGene 3'-UTR Clone: CS Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CS
		8/45 QIAGEN miScript miRNA Assays for microRNAs that regulate CS (see all 45):
		hsa-miR-3130-5p hsa-miR-507 hsa-miR-548l hsa-miR-649 hsa-miR-629 hsa-miR-4330 hsa-miR-23a hsa-miR-365

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

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CS (see all 6) OriGene shRNA RFP: CS OriGene siRNA: CS
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		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CS (see all 4) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CS (see all 2) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: CS (NM_001639)
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CS

(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 - 5/7 super-pathways (see all 7) 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

Mitochondrial Protein Import

Mitochondrial Protein Import

1.00

Glyoxylate and dicarboxylate metabolism

Glyoxylate and dicarboxylate metabolism

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 BioSystems Pathways for CS

	TCA Cycle
	TCA cycle II (eukaryotic)

5/6 Reactome Pathways for CS (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 CS):

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

UniProtKB/Swiss-Prot: CISY_HUMAN, O75390

Pathway: Carbohydrate metabolism; tricarboxylic acid cycle; isocitrate from oxaloacetate: step 1/2

CS for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CS

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

5/95 Interacting proteins for CS (O75390^{2, 3} ENSP00000342056⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 95)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TAB2	Q9NYJ8²^,³, ENSP00000286332⁴	MINT-48028 MINT-49210 I2D: score=3 STRING: ENSP00000286332
CRYAA	P02489³, ENSP00000291554⁴	I2D: score=2 STRING: ENSP00000291554
CHM	P24386³, ENSP00000350386⁴	I2D: score=1 STRING: ENSP00000350386
IDH3G	P51553³, ENSP00000217901⁴	I2D: score=1 STRING: ENSP00000217901
PDHB	P11177³, ENSP00000307241⁴	I2D: score=1 STRING: ENSP00000307241

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005975	carbohydrate metabolic process	IDA	9543345
GO:0006084	acetyl-CoA metabolic process	--	--
GO:0006099	tricarboxylic acid cycle	TAS	--
GO:0006101	citrate metabolic process	--	--
GO:0006107	oxaloacetate metabolic process	--	--

CS 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

CS for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CS

5 HMDB Compounds for CS About this table

Compound	Synonyms	CAS #	PubMed Ids
Acetyl-CoA	S-Acetyl coenzyme A (see all 13)	72-89-9	--
Citric acid	2-Hydroxy-1,2,3-propanetricarboxylate (see all 20)	77-92-9	--
Coenzyme A	Acetoacetyl coenzyme A sodium salt (see all 21)	85-61-0	--
Oxalacetic acid	2-Ketosuccinate (see all 20)	328-42-7	--
Water	Dihydrogen oxide (see all 2)	7732-18-5	--

7 DrugBank Compounds for CS About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Alpha-Fluoro-Carboxymethyldethia Coenzyme a Complex	--	--	target	--	17139284 17016423 10592235
Citric Acid	--	77-92-9	target	--	17139284 17016423 10592235
Coenzyme A	--	85-61-0	target	--	17139284 17016423 10592235
Malate Ion	--	--	target	--	17139284 17016423 10592235
Nitromethyldethia Coenzyme A	--	--	target	--	17139284 17016423 10592235
Oxaloacetate Ion	--	--	target	--	17139284 17016423 10592235
Trifluoroacetonyl Coenzyme A	--	--	target	--	17139284 17016423 10592235

10/76 Novoseek chemical compound relationships for CS gene (see all 76) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
citrate	97.7	1064	8537311 (7), 11850746 (6), 8476125 (5), 11376009 (5) (see all 99)
succinate	77.9	48	9609810 (2), 1450614 (2), 9192316 (2), 1601786 (1) (see all 41)
malate	77.6	50	8841108 (2), 16920803 (2), 19825618 (2), 9609810 (2) (see all 35)
oxaloacetate	76.4	23	2105935 (1), 8011640 (1), 7492547 (1), 10602269 (1) (see all 17)
lactate	72.6	98	9048318 (2), 10805768 (2), 9973772 (2), 1601786 (1) (see all 82)
pyruvate	69.5	46	9659176 (3), 8349677 (3), 15098932 (3), 8158120 (2) (see all 29)
phosphocreatine	67.5	7	12900378 (1), 2356745 (1), 10354207 (1), 2082717 (1) (see all 5)
glycogen	64.8	39	15184360 (2), 7915652 (1), 9216960 (1), 9270666 (1) (see all 33)
isocitrate	64.7	8	12442254 (1), 2302181 (1), 19343532 (1), 2338484 (1) (see all 8)
carnitine	62.8	19	1555541 (2), 8806937 (1), 9270666 (1), 8170674 (1) (see all 15)

Search CenterWatch for drugs/clinical trials and news about CS / CISY

(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 CS gene (2 alternative transcripts):

NM_004077.2 NM_198324.1

Unigene Cluster for CS:

Citrate synthase

Hs.743252 [show with all ESTs]

Unigene Representative Sequence: BX640838

18/34 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 34):

ENST00000549143 ENST00000548567(uc001skr.1) ENST00000351328(uc001sks.1 uc010sql.1 uc001skt.1)

ENST00000548746 ENST00000542324 ENST00000546621(uc010sqm.1) ENST00000546891

ENST00000546585 ENST00000548849 ENST00000552331 ENST00000549221 ENST00000546930

ENST00000548041 ENST00000551936 ENST00000550734 ENST00000551253 ENST00000547449

ENST00000547912

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		8/45 QIAGEN miScript miRNA Assays for microRNAs that regulate CS (see all 45):
		hsa-miR-3130-5p hsa-miR-507 hsa-miR-548l hsa-miR-649 hsa-miR-629 hsa-miR-4330 hsa-miR-23a hsa-miR-365

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Additional cDNA sequence:

AF047042.1 AF053631.1 AF147410.1 AK074956.1 AK095856.1 AK293263.1 AK296249.1 AK307625.1

BC000105.1 BC010106.1 BC072016.1 BT007414.1 BX640838.1

24/62 DOTS entries (see all 62):

DT.100045177 DT.100830015 DT.75176813 DT.95232204 DT.100830014 DT.121119710 DT.100768849 DT.100830022

DT.100830016 DT.100711640 DT.91742259 DT.121119664 DT.100830026 DT.95232184 DT.121119659 DT.121119916

DT.95123065 DT.100045176 DT.100045178 DT.121119911 DT.86859560 DT.121471607 DT.92460468 DT.100705186

24/224 AceView cDNA sequences (see all 224):

BU902048 BU859855 BU857891 BQ889480 AW752679 BF057357 BE390994 AU133086

CF125406 AA337465 BM766447 AW752628 AW752610 AI088248 BU155685 CR614767

BQ642165 BE793269 AA716265 BU173542 AW848492 BM742696 BQ685112 T34406

GeneLoc Exon Structure

5/15 Alternative Splicing Database (ASD) splice patterns (SP) for CS (see all 15) About this scheme

ExUns:	1a	·	1b	·	1c	^	2	^	3	^	4	^	5a	·	5b	·	5c	·	5d	·	5e	^	6a	·	6b	·	6c	·	6d	^	7	^	8	^	9a	·	9b	^	10	^	11a	·	11b	^	12a	·	12b	^	13a	·	13b	·
SP1:							-		-		-						-		-		-										-
SP2:																															-														-		-
SP3:									-		-						-		-		-										-
SP4:
SP5:							-				-						-		-		-										-

ExUns:	13c	^	14	^	15	^	16	^	17
SP1:
SP2:
SP3:
SP4:
SP5:

ECgene alternative splicing isoforms for CS

(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

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

About this image
See CS Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CS

SOURCE GeneReport for Unigene cluster: Hs.743252
SABiosciences Expression via Pathway-Focused PCR Arrays including CS:

Insulin Resistance in human mouse rat

Skeletal Muscle: Myogenesis & Myopathy in human mouse rat

Molecular Toxicology PathwayFinder 384HT in human mouse rat

Glucose Metabolism in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CS

(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 CS gene from 11/37 species (see all 37) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Cs^{1 , 5}	citrate synthase^{1, 5}	88.65(n)¹ 94.4(a)¹		10 (76.53 cM)⁵ 12974¹ NM_026444.3¹ NP_080720.1¹ 128337832⁵
chicken (Gallus gallus)	Aves	LOC100858903¹	citrate synthase, mitochondrial-like	77.39(n) 91.59(a)		100858903 XM_003643956.1 XP_003644004.1
lizard (Anolis carolinensis)	Reptilia	CS⁶	--	88(a)	1 ↔ 1	2(93645984-93658500)
African clawed frog (Xenopus laevis)	Amphibia	BC046571.1²	--	85.33(n)		BC046571.1
zebrafish (Danio rerio)	Actinopterygii	wufb58e04²	wufb58e04	78.53(n)		322339 BC045362.1
fruit fly (Drosophila melanogaster)	Insecta	CG3861³ kdn¹	citrate (SI)-synthase³ knockdown¹	73(a) (best of 2)³ 66.29(n)¹ 73.29(a)¹		31579¹ NM_132091.2¹ NP_572319.2¹
worm (Caenorhabditis elegans)	Secernentea	T20G5.2³ cts-1¹	Citrate synthase³ Protein CTS-1¹	68(a)³ 60.86(n)¹ 68.63(a)¹		III(10286717-10288278)³ 176437¹ NM_066863.5¹ NP_499264.1¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	CIT1(YNR001C)⁴ CIT2¹	Citrate synthase, catalyzes the condensation of acetyl more⁴ Cit2p¹	57.74(n)¹ 60.41(a)¹		14(631061-629622)⁴ 850361¹ NP_009931.1¹ 855732⁴ NP_014398.1⁴
thale cress (Arabidopsis thaliana)	eudicotyledons	ATCS¹	citrate synthase 4	61.71(n) 62.79(a)		819042 NM_180084.2 NP_850415.1
rice (Oryza sativa)	Liliopsida	AF302906.1²	--	73.52(n)		AF302906.1

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for CS gene

CS for paralogs About GeneDecksing

5 Pseudogenes.org Pseudogenes for CS
PGOHUM00000234537 PGOHUM00000261353 PGOHUM00000259780 PGOHUM00000237710 PGOHUM00000243266

(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)
About This Section

SNP ID	Valid	Clinical significance	Chr 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs182532893^1,2		--	56665212(+)	`ATCTCA/GGCTAT`	3	--	ds500¹		0	--	--	--	--
rs140851284^1,2		--	56665292(+)	`CTTGAA/GGAAGG`	1	--	ds500¹		0	--	--	--	--
rs150877992^1,2	C	--	56665306(+)	`GAAAT-/CTCCTCTG`	1	--	ds500¹		0	--	--	--	--
rs187710366^1,2		--	56665349(+)	`AAGGTA/GAAAGA`	1	--	ds500¹		0	--	--	--	--
rs55781726^1,2	C	--	56665539(+)	`CTCCAC/TCATGA`	1	--	ut3¹		0	--	--	--	--
rs193099996^1,2		--	56665662(+)	`GAGTGC/TATCTT`	1	--	ut3¹		0	--	--	--	--
rs12314191^1,2		--	56665860(+)	`CAGTAA/CCTGAT`	1	--	ut3¹ ese³		0	--	--	--	--
rs185573267^1,2		--	56666053(+)	`TGGAAA/GTAAAA`	1	--	ut3¹		0	--	--	--	--
rs148677822^1,2		--	56666223(+)	`GGAAAC/TAGAAC`	1	--	ut3¹		0	--	--	--	--
rs56927826^1,2	C	--	56666262(+)	`AAAAA-/ATCAAA`	1	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CS (56665483 - 56694176 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for CS
1 CNV: 0164
Human Gene Mutation Database (HGMD): CS

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CS

DNA2.0 Custom Variant and Variant Library Synthesis for CS

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

CS for disorders           About GeneDecksing

OMIM gene information: 118950    OMIM disorders: --

20/74 diseases for CS (see all 74):    About MalaCards

spinal-bulbar muscular atrophy acyl-coa dehydrogenase spinal and bulbar muscular atrophy of kennedy guanidinoacetate methyltransferase deficiency

cat-scratch disease high blood pressure leber hereditary optic neuropathy critical illness polyneuropathy

supranuclear palsy progressive supranuclear palsy arterial occlusive disease peripheral arterial occlusive disease

temporal lobe epilepsy muscular atrophy type 2 diabetes mellitus mitochondrial encephalomyopathy

iron overload congestive heart failure spotted fever neuroretinitis

6 diseases from the University of Copenhagen DISEASES database for CS:

Spotted fever Typhus Mitochondrial myopathy Myopathy

Heart disease Diabetes mellitus

10/27 Novoseek disease relationships for CS gene (see all 27) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
mitochondrial diseases	58.6	3	16018150 (1), 15925774 (1), 18653097 (1)
insulin sensitivity	46.3	3	18285554 (1), 10582549 (1), 14602787 (1)
myopathy	44.8	1	8170674 (1)
insulin resistance	37	2	15894466 (1), 19864449 (1)
shock	36.8	9	9029143 (1), 7772873 (1), 19167759 (1), 10411943 (1) (see all 9)
encephalopathies metabolic	30.9	1	8122033 (1)
heart failure	25.5	1	11298785 (1)
hypertrophy	22.9	1	17111003 (1)
neuromuscular diseases	22.2	2	15925774 (1)
atrophy	19.5	2	15925774 (2)

Human Genome Epidemiology (HuGE) Navigator: CS (1098 documents)

Export disorders for CS 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)
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PubMed articles for CS gene, integrated from 9 sources (see all 490):
(articles sorted by number of sources associating them with CS)

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

Cloning and tissue expression pattern analysis of the human citrate synthase cDNA. (PubMed id 12549038)^{1, 2, 9} Liu Q.... Zhao S.Y. (2000)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
Vectorial proteomics reveal targeting, phosphorylation and specific fragmentation of polymerase I and transcript release factor (PTRF) at the surface of caveolae in human adipocytes. (PubMed id 15242332)^{1, 2} Aboulaich N.... Vener A.V. (2004)
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)
Cloning and molecular analysis of the human citrate synthase gene. (PubMed id 9809442)^{1, 2} Goldenthal M.J.... Ananthakrishnan R. (1998)
Enhanced citrate synthase activity in human pancreatic cancer. (PubMed id 15714131)^{1, 9} Schlichtholz B....Swierczynski J. (2005)
Human mitochondrial function during cardiac growth and development. (PubMed id 9543345)^{1, 9} Marin-Garcia J....Goldenthal M.J. (1998)
Identification and characterization of the mitochondr ial targeting sequence and mechanism in human citrate synthase. (PubMed id 19479947)^{1, 9} Cheng T.L....Chang W.T. (2009)
Interactive domains for chaperone activity in the small heat shock protein, human alphaB crystallin. (PubMed id 16274233)^{1, 9} Ghosh J.G....Clark J.I. (2005)
Interaction of human recombinant alphaA- and alphaB-crystallins with early and late unfolding intermediates of citrate synthase on its thermal denaturation. (PubMed id 11377425)^{1, 9} Rajaraman K....Rao C.M. (2001)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
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: 1431	HGNC: 2422	AceView: CS	Ensembl:ENSG00000062485	euGenes: HUgn1431
ECgene: CS	Kegg: 1431	H-InvDB: CS

(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 CS	Pharmacogenomics, SNPs, Pathways
Wikipedia	http://en.wikipedia.org/wiki/Citrate_synthase

Intellectual Property for CS gene
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Patent Information for CS gene:
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GeneCards and IP:
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