 |
 | Services
| |
 |
Aliases & Descriptions for L2HGDH
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase) About This Section
|
| 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 |
|
| | Search outside databases for aliases for L2HGDH gene |
Summaries for L2HGDH(According to Entrez Gene,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| 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 |
Genomic Location 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) About This Section
| 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: 14q22.1L2HGDH 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
| Proteins for L2HGDH
(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)
About This Section
| 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: Q9BRR1Alternative splicing: 2 isoforms: Q9H9P8-1 Q9H9P8-2 REFSEQ proteins: NP_079160.1
ENSEMBL proteins: ENSP00000267436 ENSP00000261699
Human Recombinant Proteins Browse Origene for full length recombinant human proteins expressed in human HEK293 cells 
3 Gene Ontology (GO) cellular component terms (links to tree view): About this table
Antibodies for L2HGDH: Assays for L2HGDH: | Protein
Domains/ Families for L2HGDH(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| - Graphical View of Domain Structure for InterPro Entry Q9H9P8
ProtoNet protein and cluster: Q9H9P8 UniProtKB/Swiss-Prot: L2HDH_HUMAN, Q9H9P8Similarity: Belongs to the L2HGDH family | Gene Function for L2HGDH
(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.)
About This Section
|                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 
              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, Q9H9P8Catalytic activity: (S)-2-hydroxyglutarate + acceptor = 2-oxoglutarate + reduced acceptorBiophysicochemical 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 ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0016491 | oxidoreductase activity |
IEA | -- | | GO:0047545 | 2-hydroxyglutarate dehydrogenase activity |
IDA | 16005139 | About this table | Pathways & Interactions for L2HGDH
(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.)
About This Section
| 1 Sigma-Aldrich "Your Favorite Gene" Pathway for L2HGDH (Your Favorite Gene powered by Ingenuity) 
5/20 Interacting proteins for L2HGDH (ENSP000002674363) via UniProtKB, MINT, and/or STRING (see all 20
)About this table
2 Gene Ontology (GO) biological process terms (links to tree view): About this table
|
Drugs & Compounds for L2HGDH(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)
About This Section
|
Browse Tocris compounds for L2HGDH
|
Transcripts 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
|                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
|
Expression for L2HGDH
(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
)
About This Section
| 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 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, Q9H9P8Tissue 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 for L2HGDH
(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
)
About this table Species with no ortholog for L2HGDH
ENSEMBL Gene Tree for L2HGDH | Paralogs for L2HGDH(Paralogs according to 1HomoloGene and 2Ensembl, Pseudogenes according to 3Pseudogene.org) About This Section
| -- |
SNPs/Variants for L2HGDH(According to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Genotyping Reagents from
Applied Biosystems)
About This Section
|
HapMap Linkage Disequilibrium images for L2HGDH (up to first 250kb)
|
Disorders & Mutations for L2HGDH
(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 fluid1 Novoseek disease relationship for L2HGDH gene
About this table
Human Gene Mutation Database: L2HGDH
|
Medical News for L2HGDH(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for L2HGDH (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
):- The gene mutated in L-2-hydroxyglutaric aciduria encodes L-2- hydroxyglutarate dehydrogenase. (PubMed id 16005139)1, 2, 3, 4 Rzem R.... Veiga-da-Cunha M. (2006)
- Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin. (PubMed id 16134148)1, 3, 4 Vilarinho L....Jakobs C. (2005)
- L-2-hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1. (PubMed id 15385440)1, 3, 4 Topcu M....Fischer J. (2004)
- A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria. (PubMed id 15548604)1, 3, 4 Rzem R....van Schaftingen E. (2004)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)3, 4 Gerhard D.S....Malek J. (2004)
- Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)3, 4 Ota T....Sugano S. (2004)
- L-2-hydroxyglutaric aciduria and brain tumors in children with mutations in the L2HGDH gene: neuroimaging findings. (PubMed id 18671189)1, 3 Haliloglu G....Topcu M. (2008)
- L-2-hydroxyglutarate dehydrogenase: identification of a novel enzyme activity in rat and human liver. Implications for L-2-hydroxyglutaric acidemia. (PubMed id 8241290)1, 3 Jansen G.A. and Wanders R.J. (1993)
- A successfully treated adult patient with L-2-hydroxyglutaric aciduria. (PubMed id 18362286)3 Samuraki M....Yamada M. (2008)
- Novel insights into L-2-hydroxyglutaric aciduria: mass isotopomer studies reveal 2-oxoglutaric acid as the metabolic precursor of L-2-hydroxyglutaric acid. (PubMed id 17876720)3 Struys E.A....Jakobs C. (2007)
|
Search for L2HGDH
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing L2HGDH
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
and/or
H-InvDB)
About This Section
|
| Other Databases showing L2HGDH
(According to HUGE)
About This Section
| -- |
Specialized Databases showing L2HGDH(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
|
| Name | Description |
| GeneReviews | http://www.genetests.org/query?gene=L2HGDH |
|
| | | About This Section
| --
| Services for L2HGDH(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:

 | |
 | | | | |
|
 |  |  |
| | | | Search Tocris compounds for L2HGDH |
|
 |
 | | | |
GeneCards Homepage - Last full update: 2 Jul 2009
Incremental update: 13 Oct 2009
|