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L2HGDH Gene

protein-coding   GIFtS: 50

GC14M049775
L-2-hydroxyglutarate dehydrogenase
(Previous name: chromosome 14 open reading frame 160 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: C14orf160)
Services    
(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc , and/or 7Ensembl, 8miRBase)
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Aliases
C14orf160 2, 3, 5
DURANIN 2
Duranin 3
EC 1.1.99.2 3
FLJ12618 1, 2
Descriptions
2-hydroxyglutarate dehydrogenase 2
L-2-hydroxyglutarate dehydrogenase 2
L-alpha-hydroxyglutarate dehydrogenase 2
alpha-hydroxyglutarate oxidoreductase 2
alpha-ketoglutarate reductase 2
chromosome 14 open reading frame 160 1
External Ids
HGNC: 204991
Entrez Gene: 799442
UniProtKB: Q9H9P83
Ensembl: ENSG000000872997
Search outside databases for aliases for L2HGDH gene

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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EntrezGene summary for L2HGDH:
This gene encodes L-2-hydroxyglutarate dehydrogenase, a FAD-dependent enzyme that oxidizes
L-2-hydroxyglutarate to alpha-ketoglutarate in a variety of mammalian tissues. Mutations in this
gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder
resulting in moderate to severe mental retardation. [provided by RefSeq]

Gene Wiki entry for L2HGDH
(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
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Genomic View:
UCSC Golden Path with GeneCards custom track

 Transcription factor binding sites upstream to the L2HGDH gene  

Entrez Gene cytogenetic band: 14q22.1   Ensembl cytogenetic band:  14q22.1   HGNC cytogenetic band: 14q22.1

L2HGDH Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M049775:     (about GC identifiers)

Start:
49,774,064 bp from pter
End:
49,848,697 bp from pter
Size:
74,634 bases
Orientation:
minus strand
RefSeq DNA sequence:
NC_000014.7  NT_026437.11  
(According to 1UniProtKB, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: L2HDH_HUMAN, Q9H9P8 (See protein sequence)
Recommended Name: L-2-hydroxyglutarate dehydrogenase, mitochondrial precursor  
Size: 463 amino acids; 50359 Da
Cofactor: FAD
Subcellular location: Mitochondrion
Miscellaneous: Was named 'duranin' in honor of Marinus Duran, who first described
L-2-hydroxyglutaric aciduria
Secondary accessions: Q9BRR1
Alternative splicing: 2 isoforms:  Q9H9P8-1   Q9H9P8-2   

REFSEQ proteins: NP_079160.1  

ENSEMBL proteins: 
ENSP00000267436 ENSP00000261699 


Human Recombinant Proteins 
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Browse recombinant and purified proteins available from Enzo Life Sciences
Browse Abcam for Recombinant Proteins
Human Recombinant Proteins from Abnova (L2HGDH)
                Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 

3 Gene Ontology (GO) cellular component terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0005739 mitochondrion IDA16005139
GO:0016021 integral to membrane IDA16005139
GO:0031305 integral to mitochondrial inner membrane NAS16005139
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Antibodies for L2HGDH: 
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Search for antibodies at Abcam and the World's Antibody Gateway (free search engine of over 150 antibody companies)
Browse Abnova for Monoclonal and Polyclonal Antibodies
Search Novus for antibodies for L2HGDH

Assays for L2HGDH: 
Browse Invitrogen for biochemical assays
Browse Kits and Assays available from Millipore
Browse R&D Systems for biochemical assays
Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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1 InterPro domain/family:
 IPR006076 FAD-dep_OxRdtase


   GeneDecks  L2HGDH for the domains selected above  
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Graphical View of Domain Structure for InterPro Entry Q9H9P8

ProtoNet protein and cluster: Q9H9P8

UniProtKB/Swiss-Prot: L2HDH_HUMAN, Q9H9P8
Similarity: Belongs to the L2HGDH family

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (L2HGDH)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): BC006117

              Applied Biosystems Silencer® siRNAs for L2HGDH

              Sigma-Aldrich siRNA for L2HGDH  
                     Sigma-Aldrich shRNA for L2HGDH  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Clones:Invitrogen Clones for L2HGDH
Browse Clones for the Expression of Recombinant Proteins Available from Millipore
              OriGene GFP tagged cDNA clone in CMV expression vector: NM_024884
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_024884
                                 untagged cDNA clones in CMV expression vector (see all 2): BC006117 

Primers: Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers
              OriGene genome-wide validated SYBR primer pairs: NM_024884

UniProtKB/Swiss-Prot: L2HDH_HUMAN, Q9H9P8
Catalytic activity: (S)-2-hydroxyglutarate + acceptor = 2-oxoglutarate + reduced acceptor
Biophysicochemical properties: Kinetic parameters: KM=800 uM for L-2-hydroxyglutarate;
Enzyme Number (IUBMB): EC 1.1.99.2 

2 Gene Ontology (GO) molecular function terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0016491 oxidoreductase activity IEA--
GO:0047545 2-hydroxyglutarate dehydrogenase activity IDA16005139
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(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
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1 Sigma-Aldrich "Your Favorite Gene" Pathway for  L2HGDH  (Your Favorite Gene powered by Ingenuity) 
 Butanoate Metabolism

   GeneDecks  L2HGDH for the pathways selected above  
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1 Kegg Pathway  (Kegg details for L2HGDH):
 hsa00650 Butanoate metabolism

   GeneDecks  L2HGDH for the pathways selected above  
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5/20 Interacting proteins for L2HGDH (ENSP000002674363) via UniProtKB, MINT, and/or STRING (see all 20 )
InteractantInteraction Details
GeneCardExternal ID(s)
CSENSP000003420563STRING (score=.899)
FHENSP000003555183STRING (score=.899)
ADCENSP000003625403STRING (score=.8)
ALDH4A1ENSP000002905973STRING (score=.8)
EARS2ENSP000003434883STRING (score=.8)
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2 Gene Ontology (GO) biological process terms (links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0044267 cellular protein metabolic process IDA16005139
GO:0055114 oxidation reduction IEA--
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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
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Browse drugs & compounds from Enzo Life Sciences
Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for L2HGDH

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib.
RNA:
Invitrogen RNAi Products for gene knock-down (L2HGDH)
Browse for Gene Knock-down Tools from Millipore
Browse Abnova for Chimera RNAi Products
               OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): BC006117

              Sigma-Aldrich siRNA for L2HGDH  
                     Sigma-Aldrich shRNA for L2HGDH  
                     Explore Sigma-Aldrich super-pooled esiRNAs  

Applied Biosystems Silencer® siRNAs: 

NM_024884  

REFSEQ mRNAs for L2HGDH gene: 

NM_024884.2   

Applied Biosystems TaqMan ® Gene Expression Assays: 

NM_024884  

              OriGene GFP tagged cDNA clone in CMV expression vector: NM_024884
                                 Myc/DDK tagged cDNA clone in CMV expression vector: NM_024884
                                 untagged cDNA clones in CMV expression vector (see all 2): BC006117 

Additional cDNA sequence: 

AK022680.1 AK292627.1 AK309294.1 AY757363.1 BC006117.1 

7 DOTS entries:

DT.40219587  DT.95265298  DT.40300804  DT.120765684  DT.91728482  DT.91739526  DT.97807645 

24/36 AceView cDNA sequences (see all 36 ):

AA583482 BE294650 BM807046 AA555323 BE279451 BU601550 BC006117 BX280761 
BE883619 BF034867 BE878762 AU125485 BI917205 BQ775984 AA937054 BM462381 
BQ050387 BG421960 BP431818 AK022680 NM_024884 BU189807 BG824975 BI333616 

highest scoring ESTs for L2HGDH:

AK022680 AU125485 BC006117 BE279451 BE294650 BE883619 BG824975 BI333616 BM807046 BQ050387 

Unigene Cluster for L2HGDH:

L-2-hydroxyglutarate dehydrogenase
Hs.256034  [show with all ESTs]
Unigene Representative Sequence: NM_024884


GeneLoc Exon Structure

2 Ensembl transcripts including schematic representations:
ENST00000267436  ENST00000261699  
(Experimental results according to 1GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
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L2HGDH expression in normal and diseased human tissues

 Applied Biosystems TaqMan ® Gene Expression Assays for L2HGDH

1 / 2 / 3

8 probe-sets matching L2HGDH gene


Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank

70870_r_at2, 3 U95-E 1 1.00 1.00 0.82 0.94 AI796129 0.40 1.00 0.76 1

72497_at2, 3 U95-D 1 0.56 1.00 0.87 1.08 AA555323 0.60 1.00 0.82 1

224460_s_at2, 3 U133-B 1 1.00 1.00 -- -- BC006117 0.80 1.00 0.91 1

224459_at2, 3 U133-B 1 1.00 1.00 -- -- BC006117 0.80 1.00 0.91 1

220089_at2, 3 U133-A 1 1.00 1.00 -- -- NM_024884 0.60 1.00 0.82 1

224460_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

224459_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --

220089_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
About this table
Data from (Publications) and GNF BioGPS
    About these images
About these images

CGAP SAGE TAG: GTGTCTATAT

SOURCE GeneReport for Unigene cluster: Hs.256034

UniProtKB/Swiss-Prot: L2HDH_HUMAN, Q9H9P8
Tissue specificity: Widely expressed. Highly expressed in brain, testis and muscle. Expressed to a
lower extent in lymphocytes, fibroblasts, keratinocytes, placenta, bladder, small intestine, liver
and bone marrow

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section


Orthologs for L2HGDH gene from 5/12 species (see all 12 )
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
L2HGDH1   -- L-2-hydroxyglutarate dehydrogenase 91.07(n)
89.2(a)
480316  XM_537438.2  XP_537438.2 
chimpanzee
(Pan troglodytes)
L2HGDH1   -- L-2-hydroxyglutarate dehydrogenase 99.14(n)
98.49(a)
452898  XM_509940.2  XP_509940.1 
cow
(Bos taurus)
L2HGDH1   -- L-2-hydroxyglutarate dehydrogenase 90.28(n)
88.55(a)
514230  XM_864101.2  XP_869194.1 
rat
(Rattus norvegicus)
L2hgdh1   -- L-2-hydroxyglutarate dehydrogenase 83.95(n)
80.56(a)
314196  XM_234264.4  XP_234264.3 
mouse
(Mus musculus)
L2hgdh1, 5 125
L-2-hydroxyglutarate dehydrogenase1, 5 84.38(n)1
82.51(a)1
2176661  NM_145443.11  NP_663418.11 
 AA8228915  AK1395395  (see all 9)
About this table        Species with no ortholog for L2HGDH

ENSEMBL Gene Tree for L2HGDH
(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section

  --
(According to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section


10/374 NCBI SNPs in L2HGDH are shown (see all 374 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay)  (see all 93)
ABGenomic DataTranscription DataAllele Frequencies
SNP IDValidChr 14 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
------------
--
rs65726531,2
A,C49782692(+) ttgttA/Gttttt 1 -- ut310--------
rs171223141,2
F,H49781906(+) ACCATA/GCCACA 1 -- ut317Minor allele frequency- G:0.03NA EU EA WA 558
--
rs71570351,2
A,C49782319(+) gcatgA/Gtggct 1 -- ut310--------
--
rs71431861,2
C49783429(+) AAAACG/TAAAGT 1 -- ut310--------
--
rs65726521,2
C49782602(+) aaaaaA/Taaata 1 -- ut310--------
--
rs19648451,2
C49782547(+) gatcgC/Taccat 1 -- ut310--------
--
rs118490261,2
A49780307(+) cccccC/Gacccc 1 -- ut31 trp30--------
rs22979951,2
A,C,F,H,O49839467(+) CCAACA/GATGAC 1 I/I syn111Minor allele frequency- G:0.38EA EU WA NA 2316
rs23558851,2
A,C,F,H,O49802697(+) AAAGCT/CTGCCA 1 -- int17Minor allele frequency- C:0.47EU EA WA NA 554
rs7430751,2
A,C,F,H,O49784735(-) GATAGG/AATTTT 1 -- int115Minor allele frequency- A:0.45NA EA MN EU WA 1327
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HapMap Linkage Disequilibrium images for L2HGDH (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 609584   disorders: 236792  

UniProtKB/Swiss-Prot: L2HDH_HUMAN, Q9H9P8

  • Defects in L2HGDH are the cause of L-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792].
    L2HGA is a rare autosomal recessive disorder clinically characterized by mild psychomotor delay in
    the first years of life, followed by progressive cerebellar ataxia, dysarthria and moderate to
    severe mental retardation. Diagnosis is based on the presence of an excess of L-2-hydroxyglutaric
    acid in urine, blood and cerebrospinal fluid
  • 1 Novoseek disease relationship for L2HGDH gene

    Disease   Score   Articles   PubMed IDs for Articles with Shared Sentences (# sentences)
    metabolic disorder 50.44 1 17603759 (1)
    About this table

    Human Gene Mutation Database: L2HGDH

    (Possibly Related Articles in Doctor's Guide)
    About This Section

      --

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

    10/19 PubMed articles for L2HGDH gene (see all 19 ):
    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section

     ANDOR
    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, and/or H-InvDB)
    About This Section

    Entrez Gene: 79944 HGNC: 20499 AceView: C14orf160 Ensembl:ENSG00000087299 euGenes: HUgn79944
    ECgene: L2HGDH H-InvDB: L2HGDH
    (According to HUGE)
    About This Section

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

    NameDescription
    GeneReviewshttp://www.genetests.org/query?gene=L2HGDH
    (Available from WIS Yeda, Salk, Tufts)
    About This Section

      --
    (Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
    Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
    Enzo Life Sciences, and/or Tocris Bioscience)
    About This Section



    Products for L2HGDH:
     TaqMan ® Gene Expression Assays
     TaqMan ® Genotyping Assays
      Free SNP selection tool



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     Predesigned and custom siRNAs for L2HGDH Browse antibodies at Sigma-Aldrich
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for L2HGDH Browse small molecules at Sigma-Aldrich
     "Your Favorite Gene" Pathwaysfeedback


      
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