2. Gene
  3. D2HGDH - D-2-hydroxyglutarate dehydrogenase Gene

D2HGDH - D-2-hydroxyglutarate dehydrogenase Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as D2HGD

Gene ID: 728294 | Gene type: protein coding

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

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)

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