2025-05-09 18:52:05, GGRNA : RefSeq release 60 (20130726)
LOCUS NM_024884 6111 bp mRNA linear PRI 07-JUL-2013 DEFINITION Homo sapiens L-2-hydroxyglutarate dehydrogenase (L2HGDH), mRNA. ACCESSION NM_024884 VERSION NM_024884.2 GI:120431609 KEYWORDS RefSeq. SOURCE Homo sapiens (human) ORGANISM Homo sapiens Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo. REFERENCE 1 (bases 1 to 6111) AUTHORS Brehmer,S., Pusch,S., Schmieder,K., von Deimling,A. and Hartmann,C. TITLE Mutational analysis of D2HGDH and L2HGDH in brain tumours without IDH1 or IDH2 mutations JOURNAL Neuropathol. Appl. Neurobiol. 37 (3), 330-332 (2011) PUBMED 20727073 REMARK GeneRIF: We did not find evidence for mutations in the genes D2HGDH and L2HGDH as an alternative mechanism for raised 2-hydroxyglutarate levels in brain tumours GeneRIF: Observational study of gene-disease association. (HuGE Navigator) REFERENCE 2 (bases 1 to 6111) AUTHORS Krell,D., Assoku,M., Galloway,M., Mulholland,P., Tomlinson,I. and Bardella,C. TITLE Screen for IDH1, IDH2, IDH3, D2HGDH and L2HGDH mutations in glioblastoma JOURNAL PLoS ONE 6 (5), E19868 (2011) PUBMED 21625441 REMARK GeneRIF: L2HGDH mutation is not associated with glioblastoma. REFERENCE 3 (bases 1 to 6111) AUTHORS Short,A.D., Mellersh,C.S., Platt,H., Carter,S.D., Timofte,D., Lohi,H. and Ollier,W.E. TITLE Exonic mutations in the L2HGDH gene in Staffordshire bull terriers JOURNAL Vet. Rec. 167 (12), 455-457 (2010) PUBMED 20852250 REMARK GeneRIF: Exonic mutations in the L2HGDH gene in Staffordshire bull terriers have been identified and associated with epilepsy. REFERENCE 4 (bases 1 to 6111) AUTHORS Steenweg,M.E., Jakobs,C., Errami,A., van Dooren,S.J., Adeva Bartolome,M.T., Aerssens,P., Augoustides-Savvapoulou,P., Baric,I., Baumann,M., Bonafe,L., Chabrol,B., Clarke,J.T., Clayton,P., Coker,M., Cooper,S., Falik-Zaccai,T., Gorman,M., Hahn,A., Hasanoglu,A., King,M.D., de Klerk,H.B., Korman,S.H., Lee,C., Meldgaard Lund,A., Mejaski-Bosnjak,V., Pascual-Castroviejo,I., Raadhyaksha,A., Rootwelt,T., Roubertie,A., Ruiz-Falco,M.L., Scalais,E., Schimmel,U., Seijo-Martinez,M., Suri,M., Sykut-Cegielska,J., Trefz,F.K., Uziel,G., Valayannopoulos,V., Vianey-Saban,C., Vlaho,S., Vodopiutz,J., Wajner,M., Walter,J., Walter-Derbort,C., Yapici,Z., Zafeiriou,D.I., Spreeuwenberg,M.D., Celli,J., den Dunnen,J.T., van der Knaap,M.S. and Salomons,G.S. TITLE An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study JOURNAL Hum. Mutat. 31 (4), 380-390 (2010) PUBMED 20052767 REMARK GeneRIF: The phenotype, including neurological manifestations and urinary levels of alpha-hydroxyglutarate, is reported and the phenotype-genotype relationship, is evaluated. Review article REFERENCE 5 (bases 1 to 6111) AUTHORS Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M., Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D., Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J. TITLE Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression JOURNAL PLoS ONE 5 (9), E12862 (2010) PUBMED 20877624 REMARK GeneRIF: Observational study of gene-disease association. (HuGE Navigator) Publication Status: Online-Only REFERENCE 6 (bases 1 to 6111) AUTHORS Rzem,R., Van Schaftingen,E. and Veiga-da-Cunha,M. TITLE The gene mutated in l-2-hydroxyglutaric aciduria encodes l-2-hydroxyglutarate dehydrogenase JOURNAL Biochimie 88 (1), 113-116 (2006) PUBMED 16005139 REMARK GeneRIF: data indicate that l-2-hydroxyglutaric aciduria is due to a deficiency in l-2-hydroxyglutarate dehydrogenase REFERENCE 7 (bases 1 to 6111) AUTHORS Rzem,R., Veiga-da-Cunha,M., Noel,G., Goffette,S., Nassogne,M.C., Tabarki,B., Scholler,C., Marquardt,T., Vikkula,M. and Van Schaftingen,E. TITLE A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria JOURNAL Proc. Natl. Acad. Sci. U.S.A. 101 (48), 16849-16854 (2004) PUBMED 15548604 REFERENCE 8 (bases 1 to 6111) AUTHORS Topcu,M., Jobard,F., Halliez,S., Coskun,T., Yalcinkayal,C., Gerceker,F.O., Wanders,R.J., Prud'homme,J.F., Lathrop,M., Ozguc,M. and Fischer,J. TITLE L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1 JOURNAL Hum. Mol. Genet. 13 (22), 2803-2811 (2004) PUBMED 15385440 REMARK GeneRIF: encodes a putative mitochondrial protein with homology to FAD-dependent oxidoreductases; a mutant gene is accociated with L-2-hydroxyglutaric aciduria.propose to name the gene duranin REFERENCE 9 (bases 1 to 6111) AUTHORS Jansen,G.A. and Wanders,R.J. TITLE L-2-hydroxyglutarate dehydrogenase: identification of a novel enzyme activity in rat and human liver. Implications for L-2-hydroxyglutaric acidemia JOURNAL Biochim. Biophys. Acta 1225 (1), 53-56 (1993) PUBMED 8241290 REFERENCE 10 (bases 1 to 6111) AUTHORS Duran,M., Kamerling,J.P., Bakker,H.D., van Gennip,A.H. and Wadman,S.K. TITLE L-2-Hydroxyglutaric aciduria: an inborn error of metabolism? JOURNAL J. Inherit. Metab. Dis. 3 (4), 109-112 (1980) PUBMED 6787330 COMMENT REVIEWED REFSEQ: This record has been curated by NCBI staff. The reference sequence was derived from AK022680.1, AY757363.1, AL109758.3 and CA424871.1. This sequence is a reference standard in the RefSeqGene project. On Dec 29, 2006 this sequence version replaced gi:13376330. Summary: 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, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: AK022680.1, AY757363.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025084 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## gene product(s) localized to mito. :: reported by MitoCarta ##RefSeq-Attributes-END## COMPLETENESS: complete on the 3' end. PRIMARY REFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-65 AK022680.1 1-65 66-1471 AY757363.1 1-1406 1472-5545 AL109758.3 182142-186215 c 5546-6111 CA424871.1 1-566 c FEATURES Location/Qualifiers source 1..6111 /organism="Homo sapiens" /mol_type="mRNA" /db_xref="taxon:9606" /chromosome="14" /map="14q21.3" gene 1..6111 /gene="L2HGDH" /gene_synonym="C14orf160" /note="L-2-hydroxyglutarate dehydrogenase" /db_xref="GeneID:79944" /db_xref="HGNC:20499" /db_xref="HPRD:12640" /db_xref="MIM:609584" exon 1..219 /gene="L2HGDH" /gene_synonym="C14orf160" /inference="alignment:Splign:1.39.8" misc_feature 74..76 /gene="L2HGDH" /gene_synonym="C14orf160" /note="upstream in-frame stop codon" CDS 80..1471 /gene="L2HGDH" /gene_synonym="C14orf160" /EC_number="1.1.99.2" /note="2-hydroxyglutarate dehydrogenase; alpha-hydroxyglutarate oxidoreductase; alpha-ketoglutarate reductase; L-alpha-hydroxyglutarate dehydrogenase; L-2-hydroxyglutarate dehydrogenase, mitochondrial; duranin" /codon_start=1 /product="L-2-hydroxyglutarate dehydrogenase, mitochondrial precursor" /protein_id="NP_079160.1" /db_xref="GI:13376331" /db_xref="CCDS:CCDS9698.1" /db_xref="GeneID:79944" /db_xref="HGNC:20499" /db_xref="HPRD:12640" /db_xref="MIM:609584" /translation="
MVPALRYLVGACGRARGLFAGGSPGACGFASGRPRPLCGGSRSASTSSFDIVIVGGGIVGLASARALILRHPSLSIGVLEKEKDLAVHQTGHNSGVIHSGIYYKPESLKAKLCVQGAALLYEYCQQKGISYKQCGKLIVAVEQEEIPRLQALYEKGLQNGVPGLRLIQQEDIKKKEPYCRGLMAIDCPHTGIVDYRQVALSFAQDFQEAGGSVLTNFEVKGIEMAKESPSRSIDGMQYPIVIKNTKGEEIRCQYVVTCAGLYSDRISELSGCTPDPRIVPFRGDYLLLKPEKCYLVKGNIYPVPDSRFPFLGVHFTPRMDGSIWLGPNAVLAFKREGYRPFDFSATDVMDIIINSGLIKLASQNFSYGVTEMYKACFLGATVKYLQKFIPEITISDILRGPAGVRAQALDRDGNLVEDFVFDAGVGDIGNRILHVRNAPSPAATSSIAISGMIADEVQQRFEL
" transit_peptide 80..232 /gene="L2HGDH" /gene_synonym="C14orf160" mat_peptide 233..1468 /gene="L2HGDH" /gene_synonym="C14orf160" /product="L-2-hydroxyglutarate dehydrogenase, mitochondrial" misc_feature 260..1450 /gene="L2HGDH" /gene_synonym="C14orf160" /note="hydroxyglutarate oxidase; Provisional; Region: PRK11728" /db_xref="CDD:183292" misc_feature 302..1312 /gene="L2HGDH" /gene_synonym="C14orf160" /note="Rossmann-fold NAD(P)(+)-binding proteins; Region: NADB_Rossmann; cl09931" /db_xref="CDD:213117" misc_feature 389..391 /gene="L2HGDH" /gene_synonym="C14orf160" /experiment="experimental evidence, no additional details recorded" /note="N6-acetyllysine; propagated from UniProtKB/Swiss-Prot (Q9H9P8.3); acetylation site" misc_feature 542..544 /gene="L2HGDH" /gene_synonym="C14orf160" /experiment="experimental evidence, no additional details recorded" /note="N6-acetyllysine; propagated from UniProtKB/Swiss-Prot (Q9H9P8.3); acetylation site" variation 178 /gene="L2HGDH" /gene_synonym="C14orf160" /replace="g" /replace="t" /db_xref="dbSNP:35710558" exon 220..335 /gene="L2HGDH" /gene_synonym="C14orf160" /inference="alignment:Splign:1.39.8" exon 336..487 /gene="L2HGDH" /gene_synonym="C14orf160" /inference="alignment:Splign:1.39.8" exon 488..619 /gene="L2HGDH" /gene_synonym="C14orf160" /inference="alignment:Splign:1.39.8" exon 620..782 /gene="L2HGDH" /gene_synonym="C14orf160" /inference="alignment:Splign:1.39.8" exon 783..817 /gene="L2HGDH" /gene_synonym="C14orf160" /inference="alignment:Splign:1.39.8" exon 818..985 /gene="L2HGDH" /gene_synonym="C14orf160" /inference="alignment:Splign:1.39.8" exon 986..1143 /gene="L2HGDH" /gene_synonym="C14orf160" /inference="alignment:Splign:1.39.8" exon 1144..1275 /gene="L2HGDH" /gene_synonym="C14orf160" /inference="alignment:Splign:1.39.8" exon 1276..6095 /gene="L2HGDH" /gene_synonym="C14orf160" /inference="alignment:Splign:1.39.8" STS 1801..1956 /gene="L2HGDH" /gene_synonym="C14orf160" /standard_name="RH44101" /db_xref="UniSTS:44637" STS 2452..2534 /gene="L2HGDH" /gene_synonym="C14orf160" /standard_name="L18426" /db_xref="UniSTS:34648" STS 4365..4496 /gene="L2HGDH" /gene_synonym="C14orf160" /db_xref="UniSTS:62643" polyA_signal 6075..6080 /gene="L2HGDH" /gene_synonym="C14orf160" polyA_site 6095 /gene="L2HGDH" /gene_synonym="C14orf160" ORIGIN
gctaaagagcgcgggtcctcggccgtggagggtcaagtggcttcttctgagcgctgagggaggggagcgtgcgtaggggatggtgccagcgctgcgttatttggttggtgcctgcggacgggcccgcgggcttttcgccggtggctcccctggggcgtgcgggttcgcgtctgggaggccaagaccgctgtgtggaggtagccgcagcgccagcaccagctcatttgatatagtcatcgttggtggcggaattgtggggcttgcctctgccagagcactcatcctgcgacatccatcactttctattggtgttctggaaaaggagaaagatttagctgttcaccagactggacataacagtggtgtcatacatagtggaatttattataaacctgagtctctgaaagccaaattatgtgtacaaggtgcagccctcctctatgagtactgtcagcaaaagggaatttcctacaagcagtgtggcaagcttatagtagctgttgaacaagaagaaattcccagacttcaggccctatatgagaaaggcctccagaatggtgtcccgggcctgaggctgatccagcaggaggatataaaaaagaaggagccatattgtaggggtctaatggctattgattgtccacatactggcattgtggactatcggcaggtggctttgtcatttgcccaggatttccaagaagcaggtggctctgtcttgaccaattttgaagtaaaaggtattgaaatggctaaagaaagtccttcaagaagtatagatggaatgcaatatccaattgttataaagaatacaaagggagaggaaattcgatgtcagtatgttgtgacatgtgcaggactttactcagaccgtatttcagagttgagtggctgcactcctgatcctcgaattgtaccattccggggagattacctgcttttgaagccagaaaaatgttatcttgtaaaaggaaatatttatccggtcccagatagccggtttcctttcctaggagttcacttcacaccaaggatggatggcagtatttggctagggcctaatgcagttcttgcctttaaacgagagggttacagaccctttgacttcagtgccacagatgttatggatataattatcaatagtggcttgattaaactggcatcccagaatttttcctatggagttactgaaatgtataaagcatgttttcttggtgcaacagtgaagtatcttcaaaaattcatccctgaaattactatcagtgatatacttaggggcccagctggagtaagagcccaggccctggatagagatggaaatctggtagaagattttgtatttgatgcaggagttggggatattggaaatcgcattcttcatgtgagaaatgcaccttctcctgctgctacttcttccattgcaatttctggaatgattgcagatgaagtacaacaaagatttgaattataaataatgaaaggagctaggtatgcactgtaatcttcatgtcagcaacaagaatgtactaattgcattctttaatttaaaaaatggtttttaaactttagtttttaggtcaaagataaccactgcattgttaaaatgatgtaacatagaaataataattttctacaaaaattagccaggcatggtggcgcatgcctgtaatctcagctactcaggaggctgaggcaggagaatcaattgaaccgagcagacggaggtgagctgagagctgagattgcaccactgcactccagcctgggtgacagagcaagaaaataataataataataattttcaaaatgttaggctgggggccgtggccagcactttgggaagccaaggcaggtagattgtagcccaggagtttgagaacagcctgggcaacatggcaaaaccctgtttctacacaaagttagctgggtctggtgcctctgtagttccagctcctcagtaggctgaggtgagaggatcacttgagcccaggaggtctaggctgcagtgagcttatgttcatgacactgcattccaggctggatgatagagcaagatcttgtctcaaaaaaaaaaaaaaaaaaaaaaaaaatccagcctgggcaacatagtgaatgaaaccccatctctacaaaaaatacaaaaattagctgggcatgatggtgtgtgcctgtagtcccagctacttgggggctgaggcaggaggatcgcttgagcccgggagatcaaggctacagtgagctgtgttcatgccactataccccagcctgggcaacaaagtgagtccctgactcaaaaaataaaaacaacaacaaaaaataaattccatgcttatttactttgcgaataaagaggcaaggtacagttttatctgtccgaatccctgacttttatttattttttttttcagacggagtttcactcttgttgcccaggcttgagtgcaatggtacgatcttggctcactgcaacctctgcctcccgggttccagcgattctcttgcctcaacctcctgagtagctgggattacaggcgcccaccaccatgcctggctaattttttgtatttttagtagagacggggttttgccatgttggccaggctggtctcgaattcctgacctcaggtgatccacctgcctcagcctcccaaaatgctgggattacaggtgcgagccatcatgctcagccctgaatccctgactttgttaatgacctgtccttaccaaccatgacctagagaagatttggctttttaagagttttggagaaagatggcataaaaatagattatttccttaaatcaattttttagcattacgctacctaagctcgtttggtctctcatagacaagaaaatacattatattgtaggttacattcttttaattttgaagagtcacaaaactcacattatttagagcaacaatatttgtatttggaaattaaaaattcatgatttcaagaaaatacataaaatttacatttttgagtagtttgaataagtttctatcttaattataatatttgtaggaaataacaaaacaaactcaaagcctttattatttccagtctctttgtaactgatgtggtatggtatcatcatgaaatctaaacagtggtacactgagtggttgtcctgttcttcaatctctgtggctgagaactgaaataacttagaagagacagatttttatgagagcagttttagaatcctgacactgatgtatagaactccaatttaaaaaagttatttatctattatatctctgatctttagtcacactaaggctctcaaaatgttggccaagattggtaatgattcatacgtacttgatttttcagggctcctataaacttgtatagggatatttttccatttttgataaatatctaactttgaggcattcacttttgtaaaccgcgaaagtgccttacattcacctcatgagtattttaagttgatgcccagtgctgtggtatatcctgtatatatgtgttttgtggtatctatcgaaattattcttataatttagaaagttagaaaatagaaattgtaaatgaaaatgtggcgacctgactgcagaactttgagtactgaaccacatttaggtgaggcattttcatccattctctctgatttgctctctcaggattcatcttctactgtgtatgtcttctttcctcttagctctccaaagctgtatgatggatgggtgagaaggatgtgcattttggttgataggaaaaatgtttctgttttcttccttttcccctcacttcaagcattgatgattacattgattgagctacctcatccattaatttgaaaggctacacttcatcagctcatgtttaagaagtagcacatcccaggtaaacagagtaggccattattcaactcttaggatgagtatattaaaagcattcagatatcaatgacagaagaaacaagccctaatgtttctttataacagctgattcctgcaagaaatgcaaacacaggatatttttctgttccattacaagattactaagagatggaaaatattatcattctgtattttgtcagtagtacgattgcatacatactaagttgtaaacattgaattacaaaaaatgattgtcctaattgaagcagtcctcaatccatttgagtctgtacaataccctgaaaaggaaacaacaggtgctggagaggatgtggagaaataggaacacttttacactgttggtgggactgtaaactagttcaaccattgtggaagtcagtgtggcgattcctcagggatctggaactagaaataccatttgacccagccatcccattactgggtatatacccaagggactataaatcatgctgctataaagacacatgcacacgtatgtttattgtggcactattcacaatagtaaagacttggaaccaacccaaatgtccaacaacgatagactggattaagaaaatgtggcacatatacaccatggaatactatgcagccataaaaaatgatgagttcatgtcctttgtagggacatggatgaaattggaaatcatcattctcagtaaactatcgcaagaacaaaaaaccaaacaccgcatgttctcactcatagatgggaattgaacaatgagaacacatggacacaggaaggggaacatcacactctggggactgttgtggggtggggggaggggggagggatagcattaggagatatacctaatgctaaatgacgagttaatgggtgcagcacaccagcacggcacatgtatacatatgtaactaacctgcacattgtgcacatgtaccctaaaacttaaagtataataataaacaatatatatatatatatatatataaaataccctgaaaaataaaaatgaaaaatttgttgaaagtgttttgaatatgtaggttattctgcttgtaaaacgttttatatgtatgtcaatagggtttttttgtttaatactgatataataaagttttatgta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//
ANNOTATIONS from NCBI Entrez Gene (20130726): GeneID:79944 -> Molecular function: GO:0047545 [2-hydroxyglutarate dehydrogenase activity] evidence: IDA GeneID:79944 -> Biological process: GO:0006103 [2-oxoglutarate metabolic process] evidence: TAS GeneID:79944 -> Biological process: GO:0044237 [cellular metabolic process] evidence: TAS GeneID:79944 -> Biological process: GO:0044267 [cellular protein metabolic process] evidence: IDA GeneID:79944 -> Biological process: GO:0044281 [small molecule metabolic process] evidence: TAS GeneID:79944 -> Cellular component: GO:0005739 [mitochondrion] evidence: IDA GeneID:79944 -> Cellular component: GO:0005743 [mitochondrial inner membrane] evidence: TAS GeneID:79944 -> Cellular component: GO:0016021 [integral to membrane] evidence: IDA GeneID:79944 -> Cellular component: GO:0031305 [integral to mitochondrial inner membrane] evidence: NAS ANNOTATIONS from NCBI Entrez Gene (20130726): NP_079160 -> EC 1.1.99.2
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