Details of Protein

General Information of Protein (ID: PRT00266)
Name L-2-hydroxyglutarate dehydrogenase (L2HGDH)
Synonyms   Click to Show/Hide Synonyms of This Protein
Duranin; L2hgdh
Gene Name L2hgdh Gene ID
217666
UniProt ID
Q91YP0
Family Oxidoreductases (EC 1)
EC Number   EC: 1.1.99.2  (Click to Show/Hide the Complete EC Tree)
Oxidoreductase
CH-OH donor oxidoreductase
CH-OH donor oxidoreductase
EC: 1.1.99.2
  Click to Show/Hide the Molecular/Functional Data (Sequence/Structure/Function) of This Protein
Sequence
MWPTLRYVGGVCGLARYCVAGGFLRASGPASGVPGLLCGGGRRSSSTSSFDIVIVGGGIV
GLASARTLILKHPGLSIGVVEKEKDLALHQTGHNSGVIHSGIYYKPESLKAKLCVEGAAL
IYEYCNLKGIPYRQCGKLIVAVEQEEIPRLQALYERGLQNGVEGLRLIQQEDIKKKEPYC
RGLMAIDCPYTGIVNYQQVALSFAQDFQEAGGSILRDFEVKGIEIAKENSSRSKDGMNYP
IAVKNSKGKEIRCRYVVTCAGLYSDRISELSGCNPDPQIVPFRGDYLVLKPEKGYLVKGN
IYPVPDSRFPFLGVHFTPRLDGTIWLGPNAVLAFKREGYRPFDFDARDVMEVILKSGFIN
LVFQHFSYGVNEMYKACFLSETVKHLQKFIPEITISDVLRGPAGVRAQALDRDGNLVEDF
VFDGGTGEIADRVLHVRNAPSPAATSSLAISRMIAEEAQQRFKL
Regulatory Network
Full List of Metabolite(s) Regulated by This Protein
      Nucleosides, nucleotides, and analogues
            dCMP Click to Show/Hide the Full List of Regulating Pair(s):   1 Pair(s)
               Detailed Information Metabo  Info click to show the details of this metabolite
               Regulating Pair Experim Info click to show the details of experiment for validating this pair [1]
                      Introduced Variation Mutation (Nonsense mutations or missense mutations) of L2hgdh
                      Induced Change dCMP concentration: increase
                      Summary Introduced Variation         Induced Change 
                      Disease Status Melanoma [ICD-11: 2C30]
                      Details It is reported that mutation (nonsense mutations or missense mutations leading to KMT2D loss) of L2hgdh leads to the increase of dCMP levels compared with control group.
      Organic acids and derivatives
            Alanine Click to Show/Hide the Full List of Regulating Pair(s):   1 Pair(s)
               Detailed Information Metabo  Info click to show the details of this metabolite
               Regulating Pair Experim Info click to show the details of experiment for validating this pair [1]
                      Introduced Variation Mutation (Nonsense mutations or missense mutations) of L2hgdh
                      Induced Change Alanine concentration: increase
                      Summary Introduced Variation         Induced Change 
                      Disease Status Melanoma [ICD-11: 2C30]
                      Details It is reported that mutation (nonsense mutations or missense mutations leading to KMT2D loss) of L2hgdh leads to the increase of alanine levels compared with control group.
            Arginine Click to Show/Hide the Full List of Regulating Pair(s):   2 Pair(s)
               Detailed Information Metabo  Info click to show the details of this metabolite
               Regulating Pair (1) Experim Info click to show the details of experiment for validating this pair [1]
                      Introduced Variation Mutation (Nonsense mutations or missense mutations) of L2hgdh
                      Induced Change Arginine concentration: increase
                      Summary Introduced Variation         Induced Change 
                      Disease Status Melanoma [ICD-11: 2C30]
                      Details It is reported that mutation (nonsense mutations or missense mutations leading to KMT2D loss) of L2hgdh leads to the increase of arginine levels compared with control group.
               Regulating Pair (2) Experim Info click to show the details of experiment for validating this pair [2]
                      Introduced Variation Knockout of L2hgdh
                      Induced Change Arginine concentration: increase (FC = 2.3)
                      Summary Introduced Variation         Induced Change 
                      Disease Status Organic acid disorderss [ICD-11: 5C50]
                      Details It is reported that knockout of L2hgdh leads to the increase of arginine levels compared with control group.
            Asparagine Click to Show/Hide the Full List of Regulating Pair(s):   1 Pair(s)
               Detailed Information Metabo  Info click to show the details of this metabolite
               Regulating Pair Experim Info click to show the details of experiment for validating this pair [1]
                      Introduced Variation Mutation (Nonsense mutations or missense mutations) of L2hgdh
                      Induced Change Asparagine concentration: increase
                      Summary Introduced Variation         Induced Change 
                      Disease Status Melanoma [ICD-11: 2C30]
                      Details It is reported that mutation (nonsense mutations or missense mutations leading to KMT2D loss) of L2hgdh leads to the increase of asparagine levels compared with control group.
            Cysteine Click to Show/Hide the Full List of Regulating Pair(s):   1 Pair(s)
               Detailed Information Metabo  Info click to show the details of this metabolite
               Regulating Pair Experim Info click to show the details of experiment for validating this pair [1]
                      Introduced Variation Mutation (Nonsense mutations or missense mutations) of L2hgdh
                      Induced Change Cysteine concentration: increase
                      Summary Introduced Variation         Induced Change 
                      Disease Status Melanoma [ICD-11: 2C30]
                      Details It is reported that mutation (nonsense mutations or missense mutations leading to KMT2D loss) of L2hgdh leads to the increase of cysteine levels compared with control group.
            Glutamic acid Click to Show/Hide the Full List of Regulating Pair(s):   1 Pair(s)
               Detailed Information Metabo  Info click to show the details of this metabolite
               Regulating Pair Experim Info click to show the details of experiment for validating this pair [2]
                      Introduced Variation Knockout of L2hgdh
                      Induced Change Glutamic acid concentration: decrease (FC= 0.78)
                      Summary Introduced Variation         Induced Change 
                      Disease Status Organic acid disorderss [ICD-11: 5C50]
                      Details It is reported that knockout of L2hgdh leads to the decrease of glutamic acid levels compared with control group.
            Glutamine Click to Show/Hide the Full List of Regulating Pair(s):   2 Pair(s)
               Detailed Information Metabo  Info click to show the details of this metabolite
               Regulating Pair (1) Experim Info click to show the details of experiment for validating this pair [1]
                      Introduced Variation Mutation (Nonsense mutations or missense mutations) of L2hgdh
                      Induced Change Glutamine concentration: increase
                      Summary Introduced Variation         Induced Change 
                      Disease Status Melanoma [ICD-11: 2C30]
                      Details It is reported that mutation (nonsense mutations or missense mutations leading to KMT2D loss) of L2hgdh leads to the increase of glutamine levels compared with control group.
               Regulating Pair (2) Experim Info click to show the details of experiment for validating this pair [2]
                      Introduced Variation Knockout of L2hgdh
                      Induced Change Glutamine concentration: decrease (FC= 0.55)
                      Summary Introduced Variation         Induced Change 
                      Disease Status Organic acid disorderss [ICD-11: 5C50]
                      Details It is reported that knockout of L2hgdh leads to the decrease of glutamine levels compared with control group.
            Glyceric acid 1,3-biphosphate Click to Show/Hide the Full List of Regulating Pair(s):   1 Pair(s)
               Detailed Information Metabo  Info click to show the details of this metabolite
               Regulating Pair Experim Info click to show the details of experiment for validating this pair [1]
                      Introduced Variation Mutation (Nonsense mutations or missense mutations) of L2hgdh
                      Induced Change Glyceric acid 1,3-biphosphate concentration: increase
                      Summary Introduced Variation         Induced Change 
                      Disease Status Melanoma [ICD-11: 2C30]
                      Details It is reported that mutation (nonsense mutations or missense mutations leading to KMT2D loss) of L2hgdh leads to the increase of glyceric acid 1,3-biphosphate levels compared with control group.
            Glycine Click to Show/Hide the Full List of Regulating Pair(s):   1 Pair(s)
               Detailed Information Metabo  Info click to show the details of this metabolite
               Regulating Pair Experim Info click to show the details of experiment for validating this pair [1]
                      Introduced Variation Mutation (Nonsense mutations or missense mutations) of L2hgdh
                      Induced Change Glycine concentration: increase
                      Summary Introduced Variation         Induced Change 
                      Disease Status Melanoma [ICD-11: 2C30]
                      Details It is reported that mutation (nonsense mutations or missense mutations leading to KMT2D loss) of L2hgdh leads to the increase of glycine levels compared with control group.
            Histidine Click to Show/Hide the Full List of Regulating Pair(s):   1 Pair(s)
               Detailed Information Metabo  Info click to show the details of this metabolite
               Regulating Pair Experim Info click to show the details of experiment for validating this pair [1]
                      Introduced Variation Mutation (Nonsense mutations or missense mutations) of L2hgdh
                      Induced Change Histidine concentration: increase
                      Summary Introduced Variation         Induced Change 
                      Disease Status Melanoma [ICD-11: 2C30]
                      Details It is reported that mutation (nonsense mutations or missense mutations leading to KMT2D loss) of L2hgdh leads to the increase of histidine levels compared with control group.
            L-2-Hydroxyglutaric acid Click to Show/Hide the Full List of Regulating Pair(s):   1 Pair(s)
               Detailed Information Metabo  Info click to show the details of this metabolite
               Regulating Pair Experim Info click to show the details of experiment for validating this pair [2]
                      Introduced Variation Knockout of L2hgdh
                      Induced Change L-2-Hydroxyglutaric acid concentration: increase
                      Summary Introduced Variation         Induced Change 
                      Disease Status Organic acid disorderss [ICD-11: 5C50]
                      Details It is reported that knockout of L2hgdh leads to the increase of L-2-hydroxyglutaric acid levels compared with control group.
            L-Homoserine Click to Show/Hide the Full List of Regulating Pair(s):   1 Pair(s)
               Detailed Information Metabo  Info click to show the details of this metabolite
               Regulating Pair Experim Info click to show the details of experiment for validating this pair [1]
                      Introduced Variation Mutation (Nonsense mutations or missense mutations) of L2hgdh
                      Induced Change L-Homoserine concentration: increase
                      Summary Introduced Variation         Induced Change 
                      Disease Status Melanoma [ICD-11: 2C30]
                      Details It is reported that mutation (nonsense mutations or missense mutations leading to KMT2D loss) of L2hgdh leads to the increase of L-homoserine levels compared with control group.
            Lysine Click to Show/Hide the Full List of Regulating Pair(s):   2 Pair(s)
               Detailed Information Metabo  Info click to show the details of this metabolite
               Regulating Pair (1) Experim Info click to show the details of experiment for validating this pair [1]
                      Introduced Variation Mutation (Nonsense mutations or missense mutations) of L2hgdh
                      Induced Change Lysine concentration: increase
                      Summary Introduced Variation         Induced Change 
                      Disease Status Melanoma [ICD-11: 2C30]
                      Details It is reported that mutation (nonsense mutations or missense mutations leading to KMT2D loss) of L2hgdh leads to the increase of lysine levels compared with control group.
               Regulating Pair (2) Experim Info click to show the details of experiment for validating this pair [2]
                      Introduced Variation Knockout of L2hgdh
                      Induced Change Lysine concentration: increase (FC = 3.4)
                      Summary Introduced Variation         Induced Change 
                      Disease Status Organic acid disorderss [ICD-11: 5C50]
                      Details It is reported that knockout of L2hgdh leads to the increase of lysine levels compared with control group.
            Malic acid Click to Show/Hide the Full List of Regulating Pair(s):   1 Pair(s)
               Detailed Information Metabo  Info click to show the details of this metabolite
               Regulating Pair Experim Info click to show the details of experiment for validating this pair [1]
                      Introduced Variation Mutation (Nonsense mutations or missense mutations) of L2hgdh
                      Induced Change Malic acid concentration: increase
                      Summary Introduced Variation         Induced Change 
                      Disease Status Melanoma [ICD-11: 2C30]
                      Details It is reported that mutation (nonsense mutations or missense mutations leading to KMT2D loss) of L2hgdh leads to the increase of malic acid levels compared with control group.
            Methionine Click to Show/Hide the Full List of Regulating Pair(s):   1 Pair(s)
               Detailed Information Metabo  Info click to show the details of this metabolite
               Regulating Pair Experim Info click to show the details of experiment for validating this pair [1]
                      Introduced Variation Mutation (Nonsense mutations or missense mutations) of L2hgdh
                      Induced Change Methionine concentration: increase
                      Summary Introduced Variation         Induced Change 
                      Disease Status Melanoma [ICD-11: 2C30]
                      Details It is reported that mutation (nonsense mutations or missense mutations leading to KMT2D loss) of L2hgdh leads to the increase of methionine levels compared with control group.
            N-Acetylglutamine Click to Show/Hide the Full List of Regulating Pair(s):   1 Pair(s)
               Detailed Information Metabo  Info click to show the details of this metabolite
               Regulating Pair Experim Info click to show the details of experiment for validating this pair [1]
                      Introduced Variation Mutation (Nonsense mutations or missense mutations) of L2hgdh
                      Induced Change N-Acetylglutamine concentration: increase
                      Summary Introduced Variation         Induced Change 
                      Disease Status Melanoma [ICD-11: 2C30]
                      Details It is reported that mutation (nonsense mutations or missense mutations leading to KMT2D loss) of L2hgdh leads to the increase of N-acetylglutamine levels compared with control group.
            Phenylalanine Click to Show/Hide the Full List of Regulating Pair(s):   1 Pair(s)
               Detailed Information Metabo  Info click to show the details of this metabolite
               Regulating Pair Experim Info click to show the details of experiment for validating this pair [1]
                      Introduced Variation Mutation (Nonsense mutations or missense mutations) of L2hgdh
                      Induced Change Phenylalanine concentration: increase
                      Summary Introduced Variation         Induced Change 
                      Disease Status Melanoma [ICD-11: 2C30]
                      Details It is reported that mutation (nonsense mutations or missense mutations leading to KMT2D loss) of L2hgdh leads to the increase of phenylalanine levels compared with control group.
            Proline Click to Show/Hide the Full List of Regulating Pair(s):   1 Pair(s)
               Detailed Information Metabo  Info click to show the details of this metabolite
               Regulating Pair Experim Info click to show the details of experiment for validating this pair [1]
                      Introduced Variation Mutation (Nonsense mutations or missense mutations) of L2hgdh
                      Induced Change Proline concentration: increase
                      Summary Introduced Variation         Induced Change 
                      Disease Status Melanoma [ICD-11: 2C30]
                      Details It is reported that mutation (nonsense mutations or missense mutations leading to KMT2D loss) of L2hgdh leads to the increase of proline levels compared with control group.
            Pyruvic acid Click to Show/Hide the Full List of Regulating Pair(s):   1 Pair(s)
               Detailed Information Metabo  Info click to show the details of this metabolite
               Regulating Pair Experim Info click to show the details of experiment for validating this pair [1]
                      Introduced Variation Mutation (Nonsense mutations or missense mutations) of L2hgdh
                      Induced Change Pyruvic acid concentration: increase
                      Summary Introduced Variation         Induced Change 
                      Disease Status Melanoma [ICD-11: 2C30]
                      Details It is reported that mutation (nonsense mutations or missense mutations leading to KMT2D loss) of L2hgdh leads to the increase of pyruvic acid levels compared with control group.
            Saccharopine Click to Show/Hide the Full List of Regulating Pair(s):   1 Pair(s)
               Detailed Information Metabo  Info click to show the details of this metabolite
               Regulating Pair Experim Info click to show the details of experiment for validating this pair [2]
                      Introduced Variation Knockout of L2hgdh
                      Induced Change Saccharopine concentration: decrease (Decreased 100%)
                      Summary Introduced Variation         Induced Change 
                      Disease Status Organic acid disorderss [ICD-11: 5C50]
                      Details It is reported that knockout of L2hgdh leads to the decrease of saccharopine levels compared with control group.
            Serine Click to Show/Hide the Full List of Regulating Pair(s):   1 Pair(s)
               Detailed Information Metabo  Info click to show the details of this metabolite
               Regulating Pair Experim Info click to show the details of experiment for validating this pair [1]
                      Introduced Variation Mutation (Nonsense mutations or missense mutations) of L2hgdh
                      Induced Change Serine concentration: increase
                      Summary Introduced Variation         Induced Change 
                      Disease Status Melanoma [ICD-11: 2C30]
                      Details It is reported that mutation (nonsense mutations or missense mutations leading to KMT2D loss) of L2hgdh leads to the increase of serine levels compared with control group.
            Threonine Click to Show/Hide the Full List of Regulating Pair(s):   1 Pair(s)
               Detailed Information Metabo  Info click to show the details of this metabolite
               Regulating Pair Experim Info click to show the details of experiment for validating this pair [1]
                      Introduced Variation Mutation (Nonsense mutations or missense mutations) of L2hgdh
                      Induced Change Threonine concentration: increase
                      Summary Introduced Variation         Induced Change 
                      Disease Status Melanoma [ICD-11: 2C30]
                      Details It is reported that mutation (nonsense mutations or missense mutations leading to KMT2D loss) of L2hgdh leads to the increase of threonine levels compared with control group.
            Valine Click to Show/Hide the Full List of Regulating Pair(s):   1 Pair(s)
               Detailed Information Metabo  Info click to show the details of this metabolite
               Regulating Pair Experim Info click to show the details of experiment for validating this pair [1]
                      Introduced Variation Mutation (Nonsense mutations or missense mutations) of L2hgdh
                      Induced Change Valine concentration: increase
                      Summary Introduced Variation         Induced Change 
                      Disease Status Melanoma [ICD-11: 2C30]
                      Details It is reported that mutation (nonsense mutations or missense mutations leading to KMT2D loss) of L2hgdh leads to the increase of valine levels compared with control group.
      Organic nitrogen compounds
            Ethanolamine Click to Show/Hide the Full List of Regulating Pair(s):   1 Pair(s)
               Detailed Information Metabo  Info click to show the details of this metabolite
               Regulating Pair Experim Info click to show the details of experiment for validating this pair [2]
                      Introduced Variation Knockout of L2hgdh
                      Induced Change Ethanolamine concentration: increase (FC = 1.7)
                      Summary Introduced Variation         Induced Change 
                      Disease Status Organic acid disorderss [ICD-11: 5C50]
                      Details It is reported that knockout of L2hgdh leads to the increase of ethanolamine levels compared with control group.
      Organic oxygen compounds
            Dihydroxyacetone phosphate Click to Show/Hide the Full List of Regulating Pair(s):   1 Pair(s)
               Detailed Information Metabo  Info click to show the details of this metabolite
               Regulating Pair Experim Info click to show the details of experiment for validating this pair [1]
                      Introduced Variation Mutation (Nonsense mutations or missense mutations) of L2hgdh
                      Induced Change Dihydroxyacetone phosphate concentration: increase
                      Summary Introduced Variation         Induced Change 
                      Disease Status Melanoma [ICD-11: 2C30]
                      Details It is reported that mutation (nonsense mutations or missense mutations leading to KMT2D loss) of L2hgdh leads to the increase of dihydroxyacetone phosphate levels compared with control group.
            Fructose 1,6-bisphosphate Click to Show/Hide the Full List of Regulating Pair(s):   1 Pair(s)
               Detailed Information Metabo  Info click to show the details of this metabolite
               Regulating Pair Experim Info click to show the details of experiment for validating this pair [1]
                      Introduced Variation Mutation (Nonsense mutations or missense mutations) of L2hgdh
                      Induced Change Fructose 1,6-bisphosphate concentration: increase
                      Summary Introduced Variation         Induced Change 
                      Disease Status Melanoma [ICD-11: 2C30]
                      Details It is reported that mutation (nonsense mutations or missense mutations leading to KMT2D loss) of L2hgdh leads to the increase of fructose 1,6-bisphosphate levels compared with control group.
            Glyceraldehyde 3-phosphate Click to Show/Hide the Full List of Regulating Pair(s):   1 Pair(s)
               Detailed Information Metabo  Info click to show the details of this metabolite
               Regulating Pair Experim Info click to show the details of experiment for validating this pair [1]
                      Introduced Variation Mutation (Nonsense mutations or missense mutations) of L2hgdh
                      Induced Change Glyceraldehyde 3-phosphate concentration: increase
                      Summary Introduced Variation         Induced Change 
                      Disease Status Melanoma [ICD-11: 2C30]
                      Details It is reported that mutation (nonsense mutations or missense mutations leading to KMT2D loss) of L2hgdh leads to the increase of glyceraldehyde 3-phosphate levels compared with control group.
            Glycerol Click to Show/Hide the Full List of Regulating Pair(s):   1 Pair(s)
               Detailed Information Metabo  Info click to show the details of this metabolite
               Regulating Pair Experim Info click to show the details of experiment for validating this pair [1]
                      Introduced Variation Mutation (Nonsense mutations or missense mutations) of L2hgdh
                      Induced Change Glycerol concentration: increase
                      Summary Introduced Variation         Induced Change 
                      Disease Status Melanoma [ICD-11: 2C30]
                      Details It is reported that mutation (nonsense mutations or missense mutations leading to KMT2D loss) of L2hgdh leads to the increase of glycerol levels compared with control group.
      Organoheterocyclic compounds
            Tryptophan Click to Show/Hide the Full List of Regulating Pair(s):   1 Pair(s)
               Detailed Information Metabo  Info click to show the details of this metabolite
               Regulating Pair Experim Info click to show the details of experiment for validating this pair [1]
                      Introduced Variation Mutation (Nonsense mutations or missense mutations) of L2hgdh
                      Induced Change Tryptophan concentration: increase
                      Summary Introduced Variation         Induced Change 
                      Disease Status Melanoma [ICD-11: 2C30]
                      Details It is reported that mutation (nonsense mutations or missense mutations leading to KMT2D loss) of L2hgdh leads to the increase of tryptophan levels compared with control group.
References
1 Enhancer Reprogramming Confers Dependence on Glycolysis and IGF Signaling in KMT2D Mutant Melanoma. Cell Rep. 2020 Oct 20;33(3):108293.
2 A mouse model of L-2-hydroxyglutaric aciduria, a disorder of metabolite repair. PLoS One. 2015 Mar 12;10(3):e0119540.

If you find any error in data or bug in web service, please kindly report it to Dr. Zhang and Dr. Mou.