• Gene id: 728294

Gene Summary

• Gene Symbol: D2HGDH   Gene   UCSC   Ensembl
• Aliases: D2HGD
• Gene name: D-2-hydroxyglutarate dehydrogenase
• Alternate names: D-2-hydroxyglutarate dehydrogenase, mitochondrial,
• Gene location: 2q37.3 (241734628: 241768815)     Exons: 21     NC_000002.12
• Gene summary(Entrez): 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-hydro
• OMIM: 609186

Protein Summary

• Protein general information: Q8N465  
  • Name: D 2 hydroxyglutarate dehydrogenase, mitochondrial (EC 1.1.99. )
  • Length: 521  
  • Mass: 56416
• Sequence:

  MLPRRPLAWPAWLLRGAPGAAGSWGRPVGPLARRGCCSAPGTPEVPLTRERYPVRRLPFSTVSKQDLAAFERIVP
  GGVVTDPEALQAPNVDWLRTLRGCSKVLLRPRTSEEVSHILRHCHERNLAVNPQGGNTGMVGGSVPVFDEIILST
  ARMNRVLSFHSVSGILVCQAGCVLEELSRYVEERDFIMPLDLGAKGSCHIGGNVATNAGGLRFLRYGSLHGTVLG
  LEVVLADGTVLDCLTSLRKDNTGYDLKQLFIGSEGTLGIITTVSILCPPKPRAVNVAFLGCPGFAEVLQTFSTCK
  GMLGEILSAFEFMDAVCMQLVGRHLHLASPVQESPFYVLIETSGSNAGHDAEKLGHFLEHALGSGLVTDGTMATD
  QRKVKMLWALRERITEALSRDGYVYKYDLSLPVERLYDIVTDLRARLGPHAKHVVGYGHLGDGNLHLNVTAEAFS
  PSLLAALEPHVYEWTAGQQGSVSAEHGVGFRKRDVLGYSKPPGALQLMQQLKALLDPKGILNPYKTLPSQA

• Structural information:
  • Protein Domains: (96..27-)
    (/note="FAD-binding-PCMH-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00718"-)
  • Interpro: IPR016166  IPR036318  IPR016167  IPR016169  IPR016164   IPR004113  IPR006094  IPR016171  
  • Prosite: PS51387
  • STRING: ENSP00000315351
• Other Databases: GeneCards:  D2HGDH  Malacards:  D2HGDH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051990	(R)-2-hydroxyglutarate dehydrogenase activity	ISS	molecular function
GO:0010043	response to zinc ion	ISS	biological process
GO:0051592	response to calcium ion	ISS	NOT|biological process
GO:0032025	response to cobalt ion	ISS	biological process
GO:0044267	cellular protein metabolic process	ISS	biological process
GO:0005739	mitochondrion	ISS	cellular component
GO:0010042	response to manganese ion	ISS	biological process
GO:0032026	response to magnesium ion	ISS	NOT|biological process
GO:0005739	mitochondrion	IBA	cellular component
GO:0050660	flavin adenine dinucleotide binding	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0071949	FAD binding	IEA	molecular function
GO:0003824	catalytic activity	IEA	molecular function
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0051990	(R)-2-hydroxyglutarate dehydrogenase activity	EXP	molecular function
GO:0005759	mitochondrial matrix	TAS	cellular component
GO:0006103	2-oxoglutarate metabolic process	TAS	biological process
GO:0010043	response to zinc ion	IEA	biological process
GO:0032025	response to cobalt ion	IEA	biological process
GO:0051990	(R)-2-hydroxyglutarate dehydrogenase activity	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0010042	response to manganese ion	IEA	biological process
GO:0044267	cellular protein metabolic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component

Diseases

Associated diseases	References
D-2-hydroxyglutaric aciduria	KEGG:H01225
D-2-hydroxyglutaric aciduria	KEGG:H01225
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray