D2HGDH - D-2-hydroxyglutarate dehydrogenase Gene

Also Known as D2HGD

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 728294

About D2HGDH

Cytogenetic location: 2q37.3 Genomic coordinates (GRCh38): 2:241,734,630-241,768,811 (from NCBI)

This gene has 16 transcripts (splice variants), 198 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in skin (RPKM 9.9), kidney (RPKM 7.5) and 25 other tissues.

Summary

This gene encodes D-2hydroxyglutarate dehydrogenase, 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. [provided by RefSeq, Jul 2008]

D2HGDH Products (3)

mRNA Protein Name
NM_001287249.2 NP_001274178.1 D-2-hydroxyglutarate dehydrogenase, mitochondrial isoform 2
NM_001352824.2 NP_001339753.1 D-2-hydroxyglutarate dehydrogenase, mitochondrial isoform 3
NM_152783.5 NP_689996.4 D-2-hydroxyglutarate dehydrogenase, mitochondrial isoform 1 precursor

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables (R)-2-hydroxyglutarate dehydrogenase activity EXP
EXP: Inferred from Experiment
15070399 GOA
enables (R)-2-hydroxyglutarate dehydrogenase activity IMP
IMP: Inferred from mutant phenotype
20020533 GOA
enables zinc ion binding IDA
IDA: Inferred from direct assay
33431826 GOA
Biological Process GO Annotation Evidence References Source
involved in malate metabolic process IDA
IDA: Inferred from direct assay
33431826 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

D2HGDH Protein Structure

FAD_binding_4

FAD_binding_4: FAD binding domain (102 - 238)

FAD-oxidase_C

FAD-oxidase_C: FAD linked oxidases, C-terminal domain (275 - 515)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 521 a.a.
Protein Preferred Names Protein Names

D-2-hydroxyglutarate dehydrogenase, mitochondrial

Related Diseases

Diseases Alias
D-2-Hydroxyglutaric Aciduria 1

  • D-2-Hydroxyglutaric Aciduria

  • D2HGA1

  • D-2-Hga

  • D-2-Hydroxyglutaric Acidemia

  • D2ha

  • D2hga

  • Aciduria, D-2-Hydroxyglutaric, Type 1

  • Combined D-2- And L-2-Hydroxyglutaric Aciduria
2-Hydroxyglutaric Aciduria

  • 2-Hga

  • 2-Hydroxyglutaric Acidemia

  • 2-Hydroxyglutaricaciduria

  • Combined D-2- And L-2-Hydroxyglutaric Aciduria
Combined D-2- And L-2-Hydroxyglutaric Aciduria

  • D,L-2-Hydroxyglutaric Aciduria

  • D2L2AD

  • Combined D-2-Hydroxyglutaric Acidemia And L-2-Hydroxyglutaric Acidemia

  • Combined D-2-Hydroxyglutaric Aciduria And L-2-Hydroxyglutaric Aciduria

  • D,L-2-Hga

  • D,L-2-Hydroxyglutaric Acidemia

  • Combined D,L-2-Hydroxyglutaric Aciduria
D-2-Hydroxyglutaric Aciduria 2

  • D2HGA2

  • D-2-Hydroxyglutaric Aciduria, Type 2
L-2-Hydroxyglutaric Aciduria

  • L-2-Hydroxyglutaric Acidemia

  • L2HGA

  • L-2-Hga

  • Aciduria, L-2-Hydroxyglutaric

  • Combined D-2- And L-2-Hydroxyglutaric Aciduria
Gaucher Disease, Type Ii

  • GD2

  • Gd Ii

  • Gaucher Disease, Acute Neuronopathic Type

  • Gaucher Disease Type 2

  • Gaucher Disease Type Ii

  • Gaucher'S Disease Type Ii

  • Infantile Cerebral Gaucher Disease

  • Acute Neuronopathic Gaucher Disease

  • Gd 2

  • Gaucher Disease, Infantile Cerebral

  • Gaucher Disease 2

  • Type 2 Gaucher Disease

  • Gaucher Disease, Type 2
Fumarase Deficiency

  • Fumaric Aciduria

  • FMRD

  • Fumarate Hydratase Deficiency

  • Deficiency, Fumarase
Hypotonia
Glutaric Acidemia I

  • Glutaryl-Coa Dehydrogenase Deficiency

  • GA1

  • Glutaric Acidemia Type 1

  • Glutaric Aciduria 1

  • Glutaric Aciduria Type 1

  • Glutaric Acidemia Type I

  • Glutaric Aciduria, Type 1

  • Glutaric Aciduria I

  • Ga I

  • Glutaricaciduria, Type I

  • Glutaryl-Coenzyme A Dehydrogenase Deficiency

  • Glutaric Academia Type 1

  • Glutaric Aciduria Type I

  • Ga-1

  • Gcdh Deficiency

  • Ga 1

  • Glutaric Acidemia 1

  • Gcdhd

  • Glutaric Aciduria, Type I

  • Glutaricaciduria I

  • Ga-I

  • Glutaricaciduria, Type 1
Chromosome 2q37 Deletion Syndrome

  • Albright Hereditary Osteodystrophy-Like Syndrome

  • 2q37 Microdeletion Syndrome

  • Brachydactyly-Intellectual Disability Syndrome

  • Deletion 2q37

  • 2q37 Deletion Syndrome

  • Brachydactyly-Mental Retardation Syndrome

  • Bdmr

  • Albright Hereditary Osteodystrophy Type 3

  • Del(2)(Q37)

  • Monosomy 2q37qter

  • Albright'S Hereditary Osteodystrophy-Like Syndrome

  • Monosomy 2q37

  • Chromosome Deletion Syndrome 2q37
Epilepsy

  • Epilepsy Syndrome

  • Epileptic Syndrome

  • Epilepsies

  • Symptomatic Epilepsies

  • Post Traumatic Epilepsy

  • Traumatic Epilepsy

  • Traumatic Epileptic

  • Epilepsy Due To Hippocampal Sclerosis

  • Epilepsy With Ammon'S Horn Sclerosis

  • Epilepsy Due To Cortical Dysplasia

  • Epilepsy Due To Neuronal Migration Disorders
Multiple Enchondromatosis, Maffucci Type

  • Maffucci Syndrome

  • Chondrodysplasia With Hemangioma

  • Chondroplasia Angiomatosis

  • Enchondromatosis With Hemangiomata

  • Hemangiomatosis Chondrodystrophica

  • Kast Syndrome

  • Multiple Angiomas And Endochondromas

  • Dyschondrodysplasia With Hemangiomas

  • Enchondromatosis Type Ii

  • Enchondromatosis With Multiple Cavernous Hemangiomas

  • Dyschondroplasia And Cavernous Hemangioma

  • Hemangiomata With Dyschondroplasia
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS03507 D2HGDH Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Bos taurus D2HGDH VGNC VGNC:27861
Mus musculus D2HGDH MGD MGI:2138209
Canis familiaris D2HGDH VGNC VGNC:39755
Rattus norvegicus D2HGDH RGD RGD:1307976
Felis catus D2HGDH VGNC VGNC:61325
Macaca mulatta D2HGDH VGNC VGNC:71773
Others D2HGDH NCBI