Mdh2 Gene Detail

Summary

• Symbol
  Mdh2
• Name
  malate dehydrogenase 2, NAD (mitochondrial)
• Synonyms
  Mdh-2, Mor-1, Mor1

• Feature Type
  protein coding gene
• IDs
  MGI:97050
  NCBI Gene: 17448
• Alliance
  gene page
• Transcription Start Sites
  8 TSS
• Candidate for QTL
  5 QTL

Location &
Maps

• Sequence Map
  Chr5:135807503-135819240 bp, + strand

  From NCBI annotation of GRCm39
  

• View this region in JBrowse
  

• Genome Browsers
  Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 5, 75.40 cM
• Mapping Data
  9 experiments

Strain
Comparison

• SNPs within 2kb
  506 from dbSNP Build 142
• Strain Annotations
  18
• PCR
  1

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_97050	protein coding gene	Chr5:135807334-135819252 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0030190	protein coding gene	Chr5:140363166-140375084 (+)
A/J	MGP_AJ_G0030158	protein coding gene	Chr5:134334084-134346002 (+)
AKR/J	MGP_AKRJ_G0030091	protein coding gene	Chr5:138683398-138695336 (+)
BALB/cJ	MGP_BALBcJ_G0030168	protein coding gene	Chr5:135685884-135697830 (+)
C3H/HeJ	MGP_C3HHeJ_G0029884	protein coding gene	Chr5:139267273-139279191 (+)
C57BL/6NJ	MGP_C57BL6NJ_G0030621	protein coding gene	Chr5:145593255-145605173 (+)
CAROLI/EiJ	MGP_CAROLIEiJ_G0027844	protein coding gene	Chr5:128622893-128635614 (+)
CAST/EiJ	MGP_CASTEiJ_G0029294	protein coding gene	Chr5:138674259-138687378 (+)
CBA/J	MGP_CBAJ_G0029854	protein coding gene	Chr5:151254562-151266480 (+)
DBA/2J	MGP_DBA2J_G0030005	protein coding gene	Chr5:134229046-134240964 (+)
FVB/NJ	MGP_FVBNJ_G0029960	protein coding gene	Chr5:133376610-133388528 (+)
LP/J	MGP_LPJ_G0030094	protein coding gene	Chr5:140797700-140809720 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0029992	protein coding gene	Chr5:154270496-154282414 (+)
NZO/HlLtJ	MGP_NZOHlLtJ_G0030661	protein coding gene	Chr5:138470141-138482059 (+)
PWK/PhJ	MGP_PWKPhJ_G0029008	protein coding gene	Chr5:133289990-133303030 (+)
SPRET/EiJ	MGP_SPRETEiJ_G0028843	protein coding gene	Chr5:136012414-136024637 (+)
WSB/EiJ	MGP_WSBEiJ_G0029367	protein coding gene	Chr5:139196002-139207951 (+)

Homology

• Human Ortholog
  MDH2, malate dehydrogenase 2

• Vertebrate Orthologs
  3

Vertebrate Orthology Source

Alliance of Genome Resources

• Human Ortholog
  MDH2, malate dehydrogenase 2
  
• Synonyms
  DEE51, EIEE51, MDH, MGC:3559, M-MDH, MOR1
• Links
  HGNC:6971

  NCBI Gene ID: 4191

  neXtProt AC: NX_P40926

  UniProt: P40926

  
  
• Chr Location
  7q11.23; chr7:76048051-76067508 (+)  GRCh38

---

• MGI Vertebrate Homology
  Mdh2 stringent orthology
  1 human;1 mouse;1 rat;1 zebrafish
  
• HCOP
  vertebrate homology predictions: MDH2
• Protein SuperFamily
  Lac_mal_DH
• Gene Tree
  Mdh2
  

Human Diseases

• Diseases
  1 with human MDH2 associations

				Human Disease	Mouse Models
				developmental and epileptic encephalopathy 51 IDs developmental and epileptic encephalopathy 51       DOID:0080433 OMIM:617339

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

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  10 phenotypes from 1 allele in 1 genetic background
  15 phenotype references
  

• All Mutations and Alleles
  22
• Endonuclease-mediated
  6
• Gene trapped
  12
• Targeted
  4
• Incidental Mutations
  Mutagenetix , APF
• Find Mice (IMSR)
  24 strains or lines available
• Comparison Matrix
  Gene Expression + Phenotype

Gene Ontology
(GO)
Classifications

• All GO Annotations
  33
• GO References
  18

Expression

• Assay Results
  847
• Tissues
  115
• cDNA Data
  470
• Literature Summary
  8

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

• Other Mouse Links
  Allen Institute
  GEO
  Expression Atlas
• Other Vertebrate Links
  Xenbase mdh2
  ZFIN mdh2

Sequences &
Gene Models

• All Sequences
  53
• RefSeq
  2
• UniProt
  4
• CCDS
  CCDS19746.1

• Ensembl
  ENSMUSG00000019179 (Evidence)
• NCBI Gene
  17448

Representative Sequences			Length	Strain/Species
genomic	17448	NCBI Gene Model | MGI Sequence Detail	11738	C57BL/6J
transcript	NM_008617	RefSeq | MGI Sequence Detail	1297	Not Specified
polypeptide	P08249	UniProt | EBI | MGI Sequence Detail	338	Not Applicable

Protein
Information

• UniProt
  4 Sequences
• Protein Ontology
  PR:000010264 malate dehydrogenase, mitochondrial
  (term hierarchy)
• EC
  1.1.1.37
• InterPro Domains
  IPR015955 Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal
  IPR022383 Lactate/malate dehydrogenase, C-terminal
  IPR001236 Lactate/malate dehydrogenase, N-terminal
  IPR001557 L-lactate/malate dehydrogenase
  IPR001252 Malate dehydrogenase, active site
  IPR010097 Malate dehydrogenase, type 1
  IPR036291 NAD(P)-binding domain superfamily
• GlyGen
  P08249 3 sites, 1 O-linked glycan (2 sites)

Molecular
Reagents

• All nucleic 480

  Genomic 5

  cDNA 471

  Primer pair 4

  
  

  Microarray probesets 4

Other
Accession IDs

MGD-MRK-12165, MGD-MRK-12353, MGD-MRK-12355

References

• Summaries
  All 73

  Developmental Gene Expression 8

  Gene Ontology 18

  Phenotypes 15
• Earliest
  J:5187 Shows TB, et al., Mitochondrial malate dehydrogenase and malic enzyme: Mendelian inherited electrophoretic variants in the mouse. Biochem Genet. 1970 Dec;4(6):707-18
• Latest
  J:346910 Ayyangar U, et al., Metabolic rewiring of macrophages by epidermal-derived lactate promotes sterile inflammation in the murine skin. EMBO J. 2024 Apr;43(7):1113-1134

TSS for Mdh2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr49187	Chr5:135807319-135807325 (+)	-181 bp
Tssr49188	Chr5:135807482-135807499 (+)	-12 bp
Tssr49189	Chr5:135807501-135807517 (+)	6 bp
Tssr49190	Chr5:135807528-135807543 (+)	33 bp
Tssr49191	Chr5:135807554-135807566 (+)	57 bp
Tssr49192	Chr5:135812190-135812209 (+)	4,697 bp
Tssr49193	Chr5:135812219-135812263 (+)	4,738 bp
Tssr49194	Chr5:135818056-135818079 (+)	10,565 bp

Mdh2 is Candidate Gene for:

QTL	Genetic Location*	Genome Location (GRCm39)	Reference	QTL Note
Bw8	Chr5, syntenic		J:91835	The correlation between gene expression and dietary interaction was examined in a population of (BALB/cStCrlfC3H/Nctr x VY/WffC3Hf/Nctr-A(vy)/a)F1 animals. A/a and A/A animals were placed on a 70% (calorie restricted) or 100% (non-restricted) diet andliver mRNA levels were assessed for over 18,000 genes using DNA microarrays. Twenty-eight known genes showing statistically significant differential expression between the 70% and 100% calorie diets and A/a and A/A genotypes mapped near known diabesity QTLs. These genes may be considered further for candidate genes. On mouse Chromosome 5, Pdgfra (42 cM) showed differential expression between A/a and A/A animals on the unrestricted diet. Diabesity QTLs Dbsty2 (45 cM), Bw8 (42 cM), and Bwob (44 cM) map near this candidate gene. Another candidate gene, Shrm (52 cM), showed differential expression between the restricted and unrestricted diets on the A/a background as well as between A/a and A/A animals on the restricted diet. Diabesity QTL Igfbp3q1 (58 cM) maps near Shrm. Mdh2 (78 cM) shows differential expression between the restricted and unrestricted diets on a A/A background. Diabesity QTL Bw13 (81 cM) maps near candidate gene Mhd2.
Bw13	Chr5, syntenic		J:91835	The correlation between gene expression and dietary interaction was examined in a population of (BALB/cStCrlfC3H/Nctr x VY/WffC3Hf/Nctr-A(vy)/a)F1 animals. A/a and A/A animals were placed on a 70% (calorie restricted) or 100% (non-restricted) diet andliver mRNA levels were assessed for over 18,000 genes using DNA microarrays. Twenty-eight known genes showing statistically significant differential expression between the 70% and 100% calorie diets and A/a and A/A genotypes mapped near known diabesity QTLs. These genes may be considered further for candidate genes. On mouse Chromosome 5, Pdgfra (42 cM) showed differential expression between A/a and A/A animals on the unrestricted diet. Diabesity QTLs Dbsty2 (45 cM), Bw8 (42 cM), and Bwob (44 cM) map near this candidate gene. Another candidate gene, Shrm (52 cM), showed differential expression between the restricted and unrestricted diets on the A/a background as well as between A/a and A/A animals on the restricted diet. Diabesity QTL Igfbp3q1 (58 cM) maps near Shrm. Mdh2 (78 cM) shows differential expression between the restricted and unrestricted diets on a A/A background. Diabesity QTL Bw13 (81 cM) maps near candidate gene Mhd2.
Bwob	Chr5, syntenic		J:91835	The correlation between gene expression and dietary interaction was examined in a population of (BALB/cStCrlfC3H/Nctr x VY/WffC3Hf/Nctr-A(vy)/a)F1 animals. A/a and A/A animals were placed on a 70% (calorie restricted) or 100% (non-restricted) diet andliver mRNA levels were assessed for over 18,000 genes using DNA microarrays. Twenty-eight known genes showing statistically significant differential expression between the 70% and 100% calorie diets and A/a and A/A genotypes mapped near known diabesity QTLs. These genes may be considered further for candidate genes. On mouse Chromosome 5, Pdgfra (42 cM) showed differential expression between A/a and A/A animals on the unrestricted diet. Diabesity QTLs Dbsty2 (45 cM), Bw8 (42 cM), and Bwob (44 cM) map near this candidate gene. Another candidate gene, Shrm (52 cM), showed differential expression between the restricted and unrestricted diets on the A/a background as well as between A/a and A/A animals on the restricted diet. Diabesity QTL Igfbp3q1 (58 cM) maps near Shrm. Mdh2 (78 cM) shows differential expression between the restricted and unrestricted diets on a A/A background. Diabesity QTL Bw13 (81 cM) maps near candidate gene Mhd2.
Dbsty2	Chr5, 47.29 cM	Chr5:93445064-93445225	J:91835	The correlation between gene expression and dietary interaction was examined in a population of (BALB/cStCrlfC3H/Nctr x VY/WffC3Hf/Nctr-A(vy)/a)F1 animals. A/a and A/A animals were placed on a 70% (calorie restricted) or 100% (non-restricted) diet andliver mRNA levels were assessed for over 18,000 genes using DNA microarrays. Twenty-eight known genes showing statistically significant differential expression between the 70% and 100% calorie diets and A/a and A/A genotypes mapped near known diabesity QTLs. These genes may be considered further for candidate genes. On mouse Chromosome 5, Pdgfra (42 cM) showed differential expression between A/a and A/A animals on the unrestricted diet. Diabesity QTLs Dbsty2 (45 cM), Bw8 (42 cM), and Bwob (44 cM) map near this candidate gene. Another candidate gene, Shrm (52 cM), showed differential expression between the restricted and unrestricted diets on the A/a background as well as between A/a and A/A animals on the restricted diet. Diabesity QTL Igfbp3q1 (58 cM) maps near Shrm. Mdh2 (78 cM) shows differential expression between the restricted and unrestricted diets on a A/A background. Diabesity QTL Bw13 (81 cM) maps near candidate gene Mhd2.
Igfbp3q1	Chr5, syntenic		J:91835	The correlation between gene expression and dietary interaction was examined in a population of (BALB/cStCrlfC3H/Nctr x VY/WffC3Hf/Nctr-A(vy)/a)F1 animals. A/a and A/A animals were placed on a 70% (calorie restricted) or 100% (non-restricted) diet andliver mRNA levels were assessed for over 18,000 genes using DNA microarrays. Twenty-eight known genes showing statistically significant differential expression between the 70% and 100% calorie diets and A/a and A/A genotypes mapped near known diabesity QTLs. These genes may be considered further for candidate genes. On mouse Chromosome 5, Pdgfra (42 cM) showed differential expression between A/a and A/A animals on the unrestricted diet. Diabesity QTLs Dbsty2 (45 cM), Bw8 (42 cM), and Bwob (44 cM) map near this candidate gene. Another candidate gene, Shrm (52 cM), showed differential expression between the restricted and unrestricted diets on the A/a background as well as between A/a and A/A animals on the restricted diet. Diabesity QTL Igfbp3q1 (58 cM) maps near Shrm. Mdh2 (78 cM) shows differential expression between the restricted and unrestricted diets on a A/A background. Diabesity QTL Bw13 (81 cM) maps near candidate gene Mhd2.

*cM position of peak correlated region/marker