D2hgdh MGI Mouse Gene Detail - MGI:2138209 - D-2-hydroxyglutarate dehydrogenase

Symbol

D2hgdh
Name

D-2-hydroxyglutarate dehydrogenase

Feature Type

protein coding gene
IDs

MGI:2138209
NCBI Gene: 98314
Alliance

gene page
Transcription Start Sites

4 TSS

Sequence Map

Chr1:93752631-93780070 bp, + strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 1, 47.36 cM
Mapping Data

1 experiment

SNPs within 2kb

489 from dbSNP Build 142
Strain Annotations

15

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2138209	protein coding gene	Chr1:93752531-93781583 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0016351	protein coding gene	Chr1:95472833-95474381 (+)
A/J	MGP_AJ_G0016332	protein coding gene	Chr1:92056488-92081762 (+)
AKR/J	MGP_AKRJ_G0016293	protein coding gene	Chr1:94769696-94802990 (+)
BALB/cJ	MGP_BALBcJ_G0016288	protein coding gene	Chr1:92237541-92272621 (+)
C3H/HeJ	MGP_C3HHeJ_G0016117	protein coding gene	Chr1:95025984-95216356 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0016747	protein coding gene	Chr1:99099991-99238465 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0014465	protein coding gene	Chr1:86297601-86320363 (+)
CAST/EiJ	MGP_CASTEiJ_G0015700	protein coding gene	Chr1:94357244-94515380 (+)
CBA/J	no annotation
DBA/2J	no annotation
FVB/NJ	no annotation
LP/J	MGP_LPJ_G0016267	protein coding gene	Chr1:96654686-96697620 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0016220	protein coding gene	Chr1:105396488-105593950 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0016786	protein coding gene	Chr1:94802381-94947262 (+)
PWK/PhJ	MGP_PWKPhJ_G0015485	protein coding gene	Chr1:90687059-90700026 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0015269	protein coding gene	Chr1:93739209-93762498 (+)
WSB/EiJ	MGP_WSBEiJ_G0015760	protein coding gene	Chr1:94617452-94642997 (+)

Human Ortholog

D2HGDH, D-2-hydroxyglutarate dehydrogenase

Vertebrate Orthologs

3

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

D2HGDH, D-2-hydroxyglutarate dehydrogenase
Synonyms

D2HGD
Links

HGNC:28358

NCBI Gene ID: 728294

neXtProt AC: NX_Q8N465

UniProt: Q8N465
Chr Location

2q37.3; chr2:241734602-241768816 (+) GRCh38

MGI Vertebrate Homology

D2hgdh stringent orthology
1 human;1 mouse;1 rat;1 zebrafish
HCOP

vertebrate homology predictions: D2HGDH
Gene Tree

D2hgdh

Diseases

1 with human D2HGDH associations

				Human Disease	Mouse Models
				D-2-hydroxyglutaric aciduria 1 IDs D-2-hydroxyglutaric aciduria 1 DOID:0111351 OMIM:600721

Click on a disease name to see all genes associated with that disease.

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Phenotype Summary

10 phenotype references

All Mutations and Alleles

7
Chemically induced (other)

1
Endonuclease-mediated

1
Gene trapped

3
Radiation induced

1
Targeted

1
Genomic Mutations

2 involving D2hgdh
Incidental Mutations

Mutagenetix , APF , CvDC
Find Mice (IMSR)

21 strains or lines available

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All GO Annotations

23
GO References

6

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

706
cDNA Data

47

Tissue x Stage Matrix

Other Mouse Links

Allen Institute

GEO

Expression Atlas
Other Vertebrate Links

Xenbase d2hgdh

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All Sequences

83
RefSeq

30
UniProt

6
CCDS

CCDS15196.1, CCDS78658.1

Ensembl

ENSMUSG00000073609 (Evidence)
NCBI Gene

98314

			Length	Strain/Species	Flank
genomic	ENSMUSG00000073609	Ensembl Gene Model \| MGI Sequence Detail	27440	C57BL/6J	± kb
transcript	ENSMUST00000112881	Ensembl \| MGI Sequence Detail	3459	Not Applicable
polypeptide	ENSMUSP00000108502	Ensembl \| MGI Sequence Detail	557	Not Applicable

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UniProt

6 Sequences
Protein Ontology

PR:000006254 D-2-hydroxyglutarate dehydrogenase, mitochondrial

(term hierarchy)
EC

1.1.99.39
InterPro Domains

IPR016166 FAD-binding domain, PCMH-type

IPR051264 FAD-binding Oxidoreductase/Transferase Type 4

IPR004113 FAD-binding oxidoreductase/transferase, type 4, C-terminal

IPR036318 FAD-binding, type PCMH-like superfamily

IPR016167 FAD-binding, type PCMH, subdomain 1

IPR016169 FAD-binding, type PCMH, subdomain 2

IPR016164 FAD-linked oxidase-like, C-terminal

IPR006094 FAD linked oxidase, N-terminal

IPR016171 Vanillyl-alcohol oxidase, C-terminal subdomain 2

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All nucleic 47

cDNA 47

Microarray probesets 4

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MGI:2138084, MGI:2138085

Summaries

All 37

Gene Ontology 6

Phenotypes 10
Earliest

J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
Latest

J:333441 Liu Y, et al., D-2-hydroxyglutarate dehydrogenase governs adult neural stem cell activation and promotes histone acetylation via ATP-citrate lyase. Cell Rep. 2023 Jan 31;42(2):112067

TSS for D2hgdh:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr8203	Chr1:93752952-93752973 (+)	332 bp
Tssr8204	Chr1:93752992-93753027 (+)	379 bp
Tssr8205	Chr1:93753334-93753354 (+)	713 bp
Tssr8206	Chr1:93758888-93758892 (+)	6,259 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24