Protein-coding gene in the species Homo sapiens
D2HGDH |
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Identifiers |
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Aliases | D2HGDH, D2HGD, D-2-hydroxyglutarate dehydrogenase |
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External IDs | OMIM: 609186; MGI: 2138209; HomoloGene: 5534; GeneCards: D2HGDH; OMA:D2HGDH - orthologs |
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Gene location (Human) |
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![Chromosome 2 (human)](//upload.wikimedia.org/wikipedia/commons/thumb/a/aa/Ideogram_human_chromosome_2.svg/300px-Ideogram_human_chromosome_2.svg.png) | Chr. | Chromosome 2 (human)[1] |
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| Band | 2q37.3 | Start | 241,734,602 bp[1] |
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End | 241,768,816 bp[1] |
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Gene location (Mouse) |
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![Chromosome 1 (mouse)](//upload.wikimedia.org/wikipedia/commons/thumb/f/fb/Ideogram_house_mouse_chromosome_1.svg/260px-Ideogram_house_mouse_chromosome_1.svg.png) | Chr. | Chromosome 1 (mouse)[2] |
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| Band | 1|1 D | Start | 93,752,631 bp[2] |
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End | 93,780,070 bp[2] |
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RNA expression pattern |
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Bgee | Human | Mouse (ortholog) |
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Top expressed in | - right uterine tube
- pancreatic ductal cell
- tendon of biceps brachii
- left lobe of thyroid gland
- right lobe of thyroid gland
- anterior pituitary
- skin of abdomen
- right lobe of liver
- left ovary
- transverse colon
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| Top expressed in | - left lobe of liver
- otolith organ
- utricle
- interventricular septum
- Rostral migratory stream
- ascending aorta
- hand
- semi-lunar valve
- Paneth cell
- ciliary body
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| More reference expression data |
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BioGPS | |
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Gene ontology |
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Molecular function | - oxidoreductase activity
- catalytic activity
- flavin adenine dinucleotide binding
- oxidoreductase activity, acting on CH-OH group of donors
- D-lactate dehydrogenase (cytochrome) activity
- (R)-2-hydroxyglutarate dehydrogenase activity
- FAD binding
| Cellular component | - mitochondrial matrix
- mitochondrion
- extrinsic component of cytoplasmic side of plasma membrane
| Biological process | - response to calcium ion
- response to zinc ion
- response to magnesium ion
- response to cobalt ion
- response to manganese ion
- 2-oxoglutarate metabolic process
- lactate oxidation
- respiratory electron transport chain
| Sources:Amigo / QuickGO |
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Orthologs |
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Species | Human | Mouse |
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Entrez | | |
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Ensembl | | |
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UniProt | | |
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RefSeq (mRNA) | |
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NM_001287249 NM_152783 NM_001352824 |
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RefSeq (protein) | |
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NP_001274178 NP_689996 NP_001339753 |
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Location (UCSC) | Chr 2: 241.73 – 241.77 Mb | Chr 1: 93.75 – 93.78 Mb |
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PubMed search | [3] | [4] |
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Wikidata |
View/Edit Human | View/Edit Mouse |
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D-2-hydroxyglutarate dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the D2HGDH gene.[5][6][7]
This gene encodes D-2hydroxyglutarate dehydrogenase is a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features.[7]
See also
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000180902 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000073609 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Achouri Y, Noel G, Vertommen D, Rider MH, Veiga-Da-Cunha M, Van Schaftingen E (Jun 2004). "Identification of a dehydrogenase acting on D-2-hydroxyglutarate". Biochem J. 381 (Pt 1): 35–42. doi:10.1042/BJ20031933. PMC 1133759. PMID 15070399.
- ^ Struys EA, Salomons GS, Achouri Y, Van Schaftingen E, Grosso S, Craigen WJ, Verhoeven NM, Jakobs C (Jan 2005). "Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria". Am J Hum Genet. 76 (2): 358–60. doi:10.1086/427890. PMC 1196381. PMID 15609246.
- ^ a b "Entrez Gene: D2HGDH D-2-hydroxyglutarate dehydrogenase".
Further reading
- Gibson KM, Craigen W, Herman GE, Jakobs C (1995). "D-2-hydroxyglutaric aciduria in a newborn with neurological abnormalities: a new neurometabolic disorder?". J. Inherit. Metab. Dis. 16 (3): 497–500. doi:10.1007/BF00711664. PMID 7609436. S2CID 31099476.
- Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Hillier LW, Graves TA, Fulton RS, et al. (2005). "Generation and annotation of the DNA sequences of human chromosomes 2 and 4". Nature. 434 (7034): 724–31. Bibcode:2005Natur.434..724H. doi:10.1038/nature03466. PMID 15815621.
- Struys EA, Korman SH, Salomons GS, et al. (2005). "Mutations in phenotypically mild D-2-hydroxyglutaric aciduria". Ann. Neurol. 58 (4): 626–30. doi:10.1002/ana.20559. PMID 16037974. S2CID 45926378.
- Misra VK, Struys EA, O'brien W, et al. (2006). "Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins". Mol. Genet. Metab. 86 (1–2): 200–5. doi:10.1016/j.ymgme.2005.06.005. PMID 16081310.
- Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
- Struys EA, Verhoeven NM, Salomons GS, et al. (2006). "D-2-hydroxyglutaric aciduria in three patients with proven SSADH deficiency: genetic coincidence or a related biochemical epiphenomenon?". Mol. Genet. Metab. 88 (1): 53–7. doi:10.1016/j.ymgme.2005.12.002. PMID 16442322.
- Ewing RM, Chu P, Elisma F, et al. (2007). "Large-scale mapping of human protein-protein interactions by mass spectrometry". Mol. Syst. Biol. 3 (1): 89. doi:10.1038/msb4100134. PMC 1847948. PMID 17353931.