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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

HMGCS2 Gene

protein-coding GIFtS: 65
GCID: GC01M120290

3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)

(Previous name: 3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)...)

Explore 7 diseases affiliated with
HMGCS2 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
3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 (Mitochondrial)¹ ²
3-Hydroxy-3-Methylglutaryl-Coenzyme A Synthase 2 (Mitochondrial)¹ ²
HMG-CoA Synthase² ³
EC 2.3.3.10³ ⁸
Hydroxymethylglutaryl-CoA Synthase, Mitochondrial²
3-Hydroxy-3-Methylglutaryl Coenzyme A Synthase³

External Ids:	HGNC: 5008¹	Entrez Gene: 3158²	Ensembl: ENSG00000134240⁷	OMIM: 600234⁵	UniProtKB: P54868³

Export aliases for HMGCS2 gene to outside databases

Previous GC identifers: GC01M120737 GC01M119128 GC01M119438 GC01M119637 GC01M120003 GC01M120092 GC01M118149

(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 HMGCS2:

The protein encoded by this gene belongs to the HMG-CoA synthase family. It is a mitochondrial enzyme that catalyzes

the first reaction of ketogenesis, a metabolic pathway that provides lipid-derived energy for various organs during

times of carbohydrate deprivation, such as fasting. Mutations in this gene are associated with HMG-CoA synthase

deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this

gene.(provided by RefSeq, Oct 2009)

UniProtKB/Swiss-Prot: HMCS2_HUMAN, P54868

Function: This enzyme condenses acetyl-CoA with acetoacetyl-CoA to form HMG-CoA, which is the substrate for HMG-CoA

reductase

(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_000001.10 NC_018912.1 NT_032977.9

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the HMGCS2 gene promoter:
C/EBPbeta RelA LUN-1 NF-kappaB C/EBPalpha E47 MEF-2A ARP-1 Hand1 NF-kappaB1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: HMGCS2 promoter sequence

Search SABiosciences Chromatin IP Primers for HMGCS2

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat HMGCS2

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

Entrez Gene cytogenetic band: 1p13-p12 Ensembl cytogenetic band: 1p12 HGNC cytogenetic band: 1p13-p12

HMGCS2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
HMGCS2 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M120290: view genomic region (about GC identifiers)

Start:	120,290,619 bp from pter	End:	120,311,555 bp from pter
Size:	20,937 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: HMCS2_HUMAN, P54868 (See protein sequence)

Recommended Name: Hydroxymethylglutaryl-CoA synthase, mitochondrial precursor

Size: 508 amino acids; 56635 Da

Subcellular location: Mitochondrion

1 PDB 3D structure from and Proteopedia for HMGCS2:

2WYA (3D)

Secondary accessions: B7Z8R3 Q5SZU2

Alternative splicing: 2 isoforms: P54868-1 P54868-2 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for HMGCS2: NX_P54868

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P54868

4/15 DME Specific Peptides for HMGCS2 (P54868) (see all 15)

VQKSLAR

CYLRALD

VVCGDIA

YGCLASLL

HMGCS2 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001159579.1 NP_005509.1

ENSEMBL proteins:

ENSP00000358414 ENSP00000439495

Reactome Protein details: P54868
Human Recombinant Protein Products:

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	Uscn Proteins for HMGCS2

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:0005739	mitochondrion	TAS	7851882
GO:0005743	mitochondrial inner membrane	IEA	--
GO:0005759	mitochondrial matrix	TAS	--

HMGCS2 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

HMGCS2 for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR016038 Thiolase-like_subgr

IPR010122 HMG_CoA_synthase_euk

IPR000590 HMG_CoA_synt_AS

IPR013746 HMG_CoA_synt_C

IPR016039 Thiolase-like

Graphical View of Domain Structure for InterPro Entry P54868

ProtoNet protein and cluster: P54868

1 Blocks protein family: IPB000590 Hydroxymethylglutaryl-coenzyme A synthase

UniProtKB/Swiss-Prot: HMCS2_HUMAN, P54868

Similarity: Belongs to the HMG-CoA synthase family

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

Function Summary:

UniProtKB/Swiss-Prot: HMCS2_HUMAN, P54868

Function: This enzyme condenses acetyl-CoA with acetoacetyl-CoA to form HMG-CoA, which is the substrate for HMG-CoA

reductase

Catalytic activity: Acetyl-CoA + H(2)O + acetoacetyl-CoA = (S)-3-hydroxy-3-methylglutaryl-CoA + CoA

Genatlas biochemistry entry for HMGCS2:

3-hydroxy-3-methylglutaryl-CoA synthase 2,mitochondrial,first and regulating enzyme of ketogenic pathway,through

association with PPARA

Enzyme Number (IUBMB): EC 2.3.3.10¹ ²

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		1 QIAGEN miScript miRNA Assays for microRNA that regulate HMGCS2:
		hsa-miR-136
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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for HMGCS2

Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004421	hydroxymethylglutaryl-CoA synthase activity	IEA	--

HMGCS2 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for HMGCS2:

Decreased Wnt reporter activit

(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 - 5/10 super-pathways (see all 10) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Ketone body metabolism

Ketone body metabolism	1.00	Synthesis and degradation of ketone bodies	0.56
Synthesis and Degradation of Ketone Bodies	1.00	Butanoate metabolism	0.17
Synthesis of Ketone Bodies	0.80

Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)

	Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)	1.00			Fatty acid, triacylglycerol, and ketone body metabolism	0.52
	PPARA Activates Gene Expression	0.74

superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)

	superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)	1.00			Terpenoid backbone biosynthesis	0.71
	mevalonate pathway I	0.86

Metabolism

	Metabolism	1.00			Metabolism of lipids and lipoproteins	0.34
	Metabolic pathways	0.38

Expression of HMGCS2

Expression of HMGCS2

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

5/6 BioSystems Pathways for HMGCS2 (see all 6)

	Synthesis and Degradation of Ketone Bodies
	ketogenesis
	mevalonate pathway I
	superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)
	Validated targets of C-MYC transcriptional repression

5/8 Reactome Pathways for HMGCS2 (see all 8)

	Metabolism
	Fatty acid, triacylglycerol, and ketone body metabolism
	Regulation of Lipid Metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha)
	Ketone body metabolism
	Synthesis of Ketone Bodies

5/6 Kegg Pathways (Kegg details for HMGCS2) (see all 6):

	Synthesis and degradation of ketone bodies
	Valine, leucine and isoleucine degradation
	Butanoate metabolism
	Terpenoid backbone biosynthesis
	Metabolic pathways

UniProtKB/Swiss-Prot: HMCS2_HUMAN, P54868

Pathway: Metabolic intermediate biosynthesis; (R)-mevalonate biosynthesis; (R)-mevalonate from acetyl-CoA: step 2/3

HMGCS2 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for HMGCS2

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

5/81 Interacting proteins for HMGCS2 (P54868^{2, 3} ENSP00000358414⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 81)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
YWHAQ	P27348²^,³, ENSP00000238081⁴	MINT-7900157 I2D: score=1 STRING: ENSP00000238081
YWHAZ	P63104², ENSP00000309503⁴	MINT-7900157 STRING: ENSP00000309503
ACTA2	P62736²	MINT-7900157
ACTB	P60709²	MINT-7900157
ANKRD18A	Q8IVF6²	MINT-7900157

About this table

Gene Ontology (GO): 5/41 biological process terms (GO ID links to tree view) (see all 41): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001822	kidney development	--	--
GO:0001889	liver development	--	--
GO:0006695	cholesterol biosynthetic process	IEA	--
GO:0007420	brain development	--	--
GO:0007494	midgut development	--	--

HMGCS2 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

HMGCS2 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for HMGCS2

6 HMDB Compounds for HMGCS2 About this table

Compound	Synonyms	CAS #	PubMed Ids
7-Dehydrocholesterol	(-)-7-dehydrocholesterol (see all 26)	434-16-2	9548596
3-Hydroxy-3-methylglutaryl-CoA	(S)-3-hydroxy-3-methylglutaryl-CoA (see all 15)	1553-55-5	--
Acetoacetyl-CoA	3-acetoacetyl-CoA (see all 9)	1420-36-6	--
Acetyl-CoA	S-Acetyl coenzyme A (see all 13)	72-89-9	--
Coenzyme A	Acetoacetyl coenzyme A sodium salt (see all 21)	85-61-0	--
Water	Dihydrogen oxide (see all 2)	7732-18-5	--

2 Novoseek chemical compound relationships for HMGCS2 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
3-hydroxy-3-methylglutaryl-coa	86.2	10	16713539 (2), 12027802 (1), 19389950 (1), 1356769 (1) (see all 5)
fatty acid	36.9	2	19389950 (1)

Search CenterWatch for drugs/clinical trials and news about HMGCS2 / HMCS2

(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, 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 HMGCS2 gene (2 alternative transcripts):

NM_001166107.1 NM_005518.3

Unigene Cluster for HMGCS2:

3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)

Hs.59889 [show with all ESTs]

Unigene Representative Sequence: NM_005518

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

ENST00000369406(uc001eid.3 uc010oxj.2) ENST00000544913(uc021osw.1)

ENST00000472375 ENST00000476640(uc021osx.1)

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		1 QIAGEN miScript miRNA Assays for microRNA that regulate HMGCS2:
		hsa-miR-136
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Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
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Additional cDNA sequence:

AK301594.1 AK302276.1 AK303777.1 AK313590.1 BC044217.1 CR456850.1 GU433940.1 U12788.1

U12789.1 X83618.1

13 DOTS entries:

DT.447712 DT.75172745 DT.91761654 DT.95170169 DT.91761649 DT.91761656 DT.95170168 DT.100664062

DT.100829345 DT.121342069 DT.447711 DT.95309941 DT.217562

24/185 AceView cDNA sequences (see all 185):

CB159372 BX504512 AI832798 AA995967 BQ083175 BX448730 AL048890 AI025465

BC044217 CB157381 BX104280 CB161812 CB161471 BG569441 BI517849 BI826589

AA687814 AA399107 CB162644 AA902856 U12788 BI918353 AA496149 CB164460

GeneLoc Exon Structure

5 Alternative Splicing Database (ASD) splice patterns (SP) for HMGCS2 About this scheme

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

ECgene alternative splicing isoforms for HMGCS2

(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

HMGCS2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGTTAGAACT

About this image

HMGCS2 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/11 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 11)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Heart

Atrioventricular Canal

Atrioventricular Canal Cells

Myocardium

Spinal Cord

Spinal Dorsal Columns

Dorsal Spinal Cord Progenitor Cells

Spinal Cord

Spinal Ventral Columns

Ventral Spinal Cord Progenitor Cells

Motor Neurons

Brain

Brain

Brain

Neural Tube

Neural Tube

Spinal Dorsal Columns

Spinal Cord

Spinal Ventral Columns

Spinal Cord

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

Syncytiotrophoblast-like cells (Generation of syncyt...)

DKK1-induced cells (Derivation of cardio...)

See HMGCS2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for HMGCS2

SOURCE GeneReport for Unigene cluster: Hs.59889

UniProtKB/Swiss-Prot: HMCS2_HUMAN, P54868

Tissue specificity: High expression in liver and colon. Low expression in testis, heart, skeletal muscle and kidney

SABiosciences Expression via Pathway-Focused PCR Arrays including HMGCS2:

Fatty Acid Metabolism in human mouse rat

Lipoprotein Signaling & Cholesterol Metabolism in human mouse rat

PPAR Targets 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 common ancestor of eukaryotes.

Orthologs for HMGCS2 gene from 6/25 species (see all 25) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	HMGCS2¹	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	72.45(n) 72.52(a)		424380 XM_422225.3 XP_422225.3
lizard (Anolis carolinensis)	Reptilia	HMGCS2⁶	--	68(a)	1 ↔ 1	GL343782.1(110169-132566)
fruit fly (Drosophila melanogaster)	Insecta	Hmgs³	hydroxymethylglutaryl-CoA synthase	60(a)		53B5 --
worm (Caenorhabditis elegans)	Secernentea	F25B4.6³	hydroxymethlglutaryl-CoA synthase	43(a)		V(5685458-5687182) --
thale cress (Arabidopsis thaliana)	eudicotyledons	EMB2778⁶	Hydroxymethylglutaryl-CoA synthase	46(a)	1 → many	4(7108915-7112480)
rice (Oryza sativa)	Liliopsida	Os.32782²	Oryza sativa (japonica cultivar-group) cDNA cloneJ more	74.35(n)		AK102923.1

ENSEMBL Gene Tree for HMGCS2 (if available)
TreeFam Gene Tree for HMGCS2 (if available)

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

Paralogs for HMGCS2 gene

HMGCS1²

1 SIMAP similar gene for HMGCS2 using alignment to 3 protein entries: HMCS2_HUMAN (see all proteins):

HMGCS1

HMGCS2 for paralogs About GeneDecksing

(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 1 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs137852637^1,2	C	pathogenic	118154467(-)	`CATTTC/TGAGTA`	4	R *	stg¹		1	NA	4550
rs137852638^1,2	C	pathogenic	118161075(-)	`GGGCCG/AGAGCT`	3	/R /G	mis¹ int¹		1	NA	4552
rs114337666^1,2	C,F,	--	118148783(+)	`GAAGGG/AANNNN`	2	--	ds500¹		1	NA	120
rs73000420^1,2	C,	--	118149065(+)	`CTGCCT/CGAACC`	2	--	ds500¹		2	WA	120
rs1808876^1,2	H	--	118149096(+)	`CCCTAG/TAAGAA`	2	--	ds500¹		4	NS EA	420
rs41313276^1,2	C,	--	118149218(+)	`CTTTGC/TGCTGT`	2	--	ut3¹		2	NA WA	120
rs3894543^1,2	H	--	118149333(-)	`CACTTC/TCCTGT`	2	--	ut3¹ ese³		8	EA NA MN NS	654
rs56828380^1,2	C,	--	118149678(+)	`TTATCT/GGGATC`	2	--	ut3¹		2	WA	120
rs12096684^1,2	C,F,A,H,	--	118150020(+)	`CAAAAA/GGTCAT`	2	--	int¹		16	NS EA NA WA	1738
rs76165465^1,2	F,	--	118150044(+)	`TCCTCT/CTGGGC`	2	--	int¹		1	EA	120

HapMap Linkage Disequilibrium report for HMGCS2 (120290619 - 120311555 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for HMGCS2
3 CNVs: 4245 3309 4244
Human Gene Mutation Database (HGMD): HMGCS2

Locus Specific Mutation Databases (LSDB): HMGCS2

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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.)
About This Section

HMGCS2 for disorders           About GeneDecksing

OMIM gene information: 600234
OMIM disorders: 605911
UniProtKB/Swiss-Prot: HMCS2_HUMAN, P54868

Defects in HMGCS2 are the cause of HMG-CoA synthase deficiency (HMGCS deficiency) [MIM:605911]; also known as

deficiency of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase 2. Affected individuals present with severe

hypoketotic hypoglycemia, mild hepatomegaly, or fatty liver, and a nondiagnostic pattern of urinary organic acids with

increase of medium and short chain dicarboxylic acids

7 diseases for HMGCS2: About MalaCards

hmg-coa synthase deficiency hmg-coa synthase-2 deficiency alzheimer's disease colon cancer

pneumonia cholesterol hepatitis

Genatlas disease: HMGCS2

defective ketogenesis with recurrent hypoketotic hypoglycemia during fasting

Human Genome Epidemiology (HuGE) Navigator: HMGCS2 (11 documents)

Export disorders for HMGCS2 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 HMGCS2 gene, integrated from 9 sources (see all 34):
(articles sorted by number of sources associating them with HMGCS2)

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Molecular cloning and tissue expression of human mitochondrial 3- hydroxy-3-methylglutaryl-CoA synthase. (PubMed id 7893153)^{1, 2, 3} Mascaro C.... Hegardt F.G. (1995)
Human mitochondrial HMG CoA synthase: liver cDNA and partial genomic cloning, chromosome mapping to 1p12-p13, and possible role in vertebrate evolution. (PubMed id 7851882)^{1, 2, 3} Boukaftane Y.... Mitchell G.A. (1994)
Genetic basis of mitochondrial HMG-CoA synthase deficiency. (PubMed id 11479731)^{1, 2, 9} Aledo R.... Hegardt F.G. (2001)
Ketogenic HMGCS2 Is a c-Myc target gene expressed in differentiated cells of human colonic epithelium and down-regulated in colon cancer. (PubMed id 16940161)^{1, 2} Camarero N....Marrero P.F. (2006)
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)
Mitochondrial HMG-CoA synthase deficiency: identification of two further patients carrying two novel mutations. (PubMed id 12647205)^{1, 2} Wolf N.I.... Zschocke J. (2003)
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: clinical course and description of causal mutations in two patients. (PubMed id 11228257)^{1, 2} Bouchard L.... Mitchell G.A. (2001)
Cloning and characterization of the human mitochondrial 3-hydroxy-3- methylglutaryl CoA synthase gene. (PubMed id 9305755)^{1, 2} Boukaftane Y. and Mitchell G.A. (1997)
Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)¹ Udeshi N.D....Carr S.A. (2012)
Human HMGCS2 regulates mitochondrial fatty acid oxida tion and FGF21 expression in HepG2 cell line. (PubMed id 21502324)¹ VilA -Brau A....Marrero P.F. (2011)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 3158	HGNC: 5008	AceView: HMGCS2	Ensembl:ENSG00000134240	euGenes: HUgn3158
ECgene: HMGCS2	Kegg: 3158	H-InvDB: HMGCS2

(According to HUGE)
About This Section

(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 HMGCS2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for HMGCS2 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 HMGCS2 gene:
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GeneCards and IP:
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3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)

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