Gene Page: MDH1B
Summary ?
| GeneID | 130752 |
| Symbol | MDH1B |
| Synonyms | RP11-95H11 |
| Description | malate dehydrogenase 1B |
| Reference | HGNC:HGNC:17836|Ensembl:ENSG00000138400|HPRD:14375|Vega:OTTHUMG00000132918 |
| Gene type | protein-coding |
| Map location | 2q33.3 |
| Pascal p-value | 0.246 |
| Fetal beta | -1.395 |
| DMG | 1 (# studies) |
| eGene | Anterior cingulate cortex BA24 Cerebellar Hemisphere Cerebellum Cortex Frontal Cortex BA9 Nucleus accumbens basal ganglia Putamen basal ganglia Meta |
Gene in Data Sources
| Gene set name | Method of gene set | Description | Info |
|---|---|---|---|
| CV:PGCnp | Genome-wide Association Study | GWAS | |
| DMG:Jaffe_2016 | Genome-wide DNA methylation analysis | This dataset includes 2,104 probes/CpGs associated with SZ patients (n=108) compared to 136 controls at Bonferroni-adjusted P < 0.05. | 2 |
| DMG:Wockner_2014 | Genome-wide DNA methylation analysis | This dataset includes 4641 differentially methylated probes corresponding to 2929 unique genes between schizophrenia patients (n=24) and controls (n=24). | 2 |
| GSMA_IIA | Genome scan meta-analysis (All samples) | Psr: 0.00916 | |
| GSMA_IIE | Genome scan meta-analysis (European-ancestry samples) | Psr: 0.01016 |
Section I. Genetics and epigenetics annotation
Differentially methylated gene
| Probe | Chromosome | Position | Nearest gene | P (dis) | Beta (dis) | FDR (dis) | Study |
|---|---|---|---|---|---|---|---|
| cg06913508 | 2 | 207630136 | FASTKD2;MDH1B | 5.435E-4 | -0.235 | 0.048 | DMG:Wockner_2014 |
| cg19455953 | 2 | 207630073 | MDH1B | 1.74E-9 | -0.011 | 1.51E-6 | DMG:Jaffe_2016 |
eQTL annotation
| SNP ID | Chromosome | Position | eGene | Gene Entrez ID | pvalue | qvalue | TSS distance | eQTL type |
|---|---|---|---|---|---|---|---|---|
| rs7607406 | 2 | 207579995 | MDH1B | ENSG00000138400.8 | 2.061E-10 | 0 | 45742 | gtex_brain_ba24 |
| rs2359682 | 2 | 207580309 | MDH1B | ENSG00000138400.8 | 2.061E-10 | 0 | 45428 | gtex_brain_ba24 |
| rs4675627 | 2 | 207581101 | MDH1B | ENSG00000138400.8 | 2.061E-10 | 0 | 44636 | gtex_brain_ba24 |
| rs4142019 | 2 | 207582349 | MDH1B | ENSG00000138400.8 | 2.061E-10 | 0 | 43388 | gtex_brain_ba24 |
| rs1559028 | 2 | 207588529 | MDH1B | ENSG00000138400.8 | 2.1E-10 | 0 | 37208 | gtex_brain_ba24 |
| rs1559027 | 2 | 207588749 | MDH1B | ENSG00000138400.8 | 2.08E-10 | 0 | 36988 | gtex_brain_ba24 |
| rs10932160 | 2 | 207589296 | MDH1B | ENSG00000138400.8 | 2.031E-10 | 0 | 36441 | gtex_brain_ba24 |
| rs2161067 | 2 | 207589827 | MDH1B | ENSG00000138400.8 | 2.09E-10 | 0 | 35910 | gtex_brain_ba24 |
| rs1035348 | 2 | 207590653 | MDH1B | ENSG00000138400.8 | 2.09E-10 | 0 | 35084 | gtex_brain_ba24 |
| rs2359684 | 2 | 207591124 | MDH1B | ENSG00000138400.8 | 2.08E-10 | 0 | 34613 | gtex_brain_ba24 |
| rs4675630 | 2 | 207596345 | MDH1B | ENSG00000138400.8 | 1.142E-9 | 0 | 29392 | gtex_brain_ba24 |
| rs6435345 | 2 | 207601139 | MDH1B | ENSG00000138400.8 | 1.396E-9 | 0 | 24598 | gtex_brain_ba24 |
| rs10166624 | 2 | 207607538 | MDH1B | ENSG00000138400.8 | 1.437E-9 | 0 | 18199 | gtex_brain_ba24 |
| rs199895755 | 2 | 207609674 | MDH1B | ENSG00000138400.8 | 9.973E-9 | 0 | 16063 | gtex_brain_ba24 |
| rs6435346 | 2 | 207612128 | MDH1B | ENSG00000138400.8 | 1.333E-10 | 0 | 13609 | gtex_brain_ba24 |
| rs6729613 | 2 | 207614820 | MDH1B | ENSG00000138400.8 | 2.677E-10 | 0 | 10917 | gtex_brain_ba24 |
| rs7580138 | 2 | 207615284 | MDH1B | ENSG00000138400.8 | 2.831E-8 | 0 | 10453 | gtex_brain_ba24 |
| rs10932164 | 2 | 207616325 | MDH1B | ENSG00000138400.8 | 9.433E-8 | 0 | 9412 | gtex_brain_ba24 |
| rs1862089 | 2 | 207620518 | MDH1B | ENSG00000138400.8 | 1.559E-7 | 0 | 5219 | gtex_brain_ba24 |
| rs201500071 | 2 | 207623504 | MDH1B | ENSG00000138400.8 | 3.409E-8 | 0 | 2233 | gtex_brain_ba24 |
| rs11888576 | 2 | 207624358 | MDH1B | ENSG00000138400.8 | 1.756E-9 | 0 | 1379 | gtex_brain_ba24 |
| rs11894165 | 2 | 207624412 | MDH1B | ENSG00000138400.8 | 1.587E-7 | 0 | 1325 | gtex_brain_ba24 |
| rs6716757 | 2 | 207624557 | MDH1B | ENSG00000138400.8 | 6.959E-10 | 0 | 1180 | gtex_brain_ba24 |
| rs1862088 | 2 | 207625188 | MDH1B | ENSG00000138400.8 | 6.959E-10 | 0 | 549 | gtex_brain_ba24 |
| rs1862087 | 2 | 207625567 | MDH1B | ENSG00000138400.8 | 1.587E-7 | 0 | 170 | gtex_brain_ba24 |
| rs4675638 | 2 | 207626287 | MDH1B | ENSG00000138400.8 | 2.314E-9 | 0 | -550 | gtex_brain_ba24 |
| rs952242 | 2 | 207627422 | MDH1B | ENSG00000138400.8 | 1.756E-9 | 0 | -1685 | gtex_brain_ba24 |
| rs201702102 | 2 | 207628622 | MDH1B | ENSG00000138400.8 | 3.497E-9 | 0 | -2885 | gtex_brain_ba24 |
| rs397958743 | 2 | 207628623 | MDH1B | ENSG00000138400.8 | 6.603E-10 | 0 | -2886 | gtex_brain_ba24 |
| rs16838834 | 2 | 207629795 | MDH1B | ENSG00000138400.8 | 2.009E-6 | 0 | -4058 | gtex_brain_ba24 |
| rs28365798 | 2 | 207629821 | MDH1B | ENSG00000138400.8 | 1.862E-6 | 0 | -4084 | gtex_brain_ba24 |
| rs28365797 | 2 | 207629846 | MDH1B | ENSG00000138400.8 | 1.976E-6 | 0 | -4109 | gtex_brain_ba24 |
| rs3828294 | 2 | 207629904 | MDH1B | ENSG00000138400.8 | 6.615E-10 | 0 | -4167 | gtex_brain_ba24 |
| rs3214431 | 2 | 207632364 | MDH1B | ENSG00000138400.8 | 3.081E-7 | 0 | -6627 | gtex_brain_ba24 |
| rs12470963 | 2 | 207639593 | MDH1B | ENSG00000138400.8 | 2.416E-7 | 0 | -13856 | gtex_brain_ba24 |
| rs4488642 | 2 | 207645464 | MDH1B | ENSG00000138400.8 | 3.684E-9 | 0 | -19727 | gtex_brain_ba24 |
| rs1862093 | 2 | 207661913 | MDH1B | ENSG00000138400.8 | 5.866E-8 | 0 | -36176 | gtex_brain_ba24 |
| rs1862092 | 2 | 207661916 | MDH1B | ENSG00000138400.8 | 4.074E-7 | 0 | -36179 | gtex_brain_ba24 |
| rs1862091 | 2 | 207662210 | MDH1B | ENSG00000138400.8 | 5.342E-8 | 0 | -36473 | gtex_brain_ba24 |
| rs888620 | 2 | 207665145 | MDH1B | ENSG00000138400.8 | 5.201E-8 | 0 | -39408 | gtex_brain_ba24 |
| rs57080389 | 2 | 207674345 | MDH1B | ENSG00000138400.8 | 2.54E-7 | 0 | -48608 | gtex_brain_ba24 |
| rs111824444 | 2 | 207676248 | MDH1B | ENSG00000138400.8 | 2.979E-6 | 0 | -50511 | gtex_brain_ba24 |
| rs7607406 | 2 | 207579995 | MDH1B | ENSG00000138400.8 | 2.013E-6 | 0.01 | 45742 | gtex_brain_putamen_basal |
| rs2359682 | 2 | 207580309 | MDH1B | ENSG00000138400.8 | 2.013E-6 | 0.01 | 45428 | gtex_brain_putamen_basal |
| rs4675627 | 2 | 207581101 | MDH1B | ENSG00000138400.8 | 2.013E-6 | 0.01 | 44636 | gtex_brain_putamen_basal |
| rs4142019 | 2 | 207582349 | MDH1B | ENSG00000138400.8 | 2.013E-6 | 0.01 | 43388 | gtex_brain_putamen_basal |
| rs1559027 | 2 | 207588749 | MDH1B | ENSG00000138400.8 | 2.007E-6 | 0.01 | 36988 | gtex_brain_putamen_basal |
| rs10932160 | 2 | 207589296 | MDH1B | ENSG00000138400.8 | 2.007E-6 | 0.01 | 36441 | gtex_brain_putamen_basal |
| rs2161067 | 2 | 207589827 | MDH1B | ENSG00000138400.8 | 2.007E-6 | 0.01 | 35910 | gtex_brain_putamen_basal |
| rs1035348 | 2 | 207590653 | MDH1B | ENSG00000138400.8 | 2.007E-6 | 0.01 | 35084 | gtex_brain_putamen_basal |
| rs2359684 | 2 | 207591124 | MDH1B | ENSG00000138400.8 | 1.753E-6 | 0.01 | 34613 | gtex_brain_putamen_basal |
| rs6435346 | 2 | 207612128 | MDH1B | ENSG00000138400.8 | 1.339E-6 | 0.01 | 13609 | gtex_brain_putamen_basal |
| rs6729613 | 2 | 207614820 | MDH1B | ENSG00000138400.8 | 1.402E-6 | 0.01 | 10917 | gtex_brain_putamen_basal |
| rs11888576 | 2 | 207624358 | MDH1B | ENSG00000138400.8 | 1.402E-6 | 0.01 | 1379 | gtex_brain_putamen_basal |
| rs6716757 | 2 | 207624557 | MDH1B | ENSG00000138400.8 | 1.383E-6 | 0.01 | 1180 | gtex_brain_putamen_basal |
| rs1862088 | 2 | 207625188 | MDH1B | ENSG00000138400.8 | 1.383E-6 | 0.01 | 549 | gtex_brain_putamen_basal |
| rs4675638 | 2 | 207626287 | MDH1B | ENSG00000138400.8 | 6.55E-7 | 0.01 | -550 | gtex_brain_putamen_basal |
| rs952242 | 2 | 207627422 | MDH1B | ENSG00000138400.8 | 1.402E-6 | 0.01 | -1685 | gtex_brain_putamen_basal |
| rs201702102 | 2 | 207628622 | MDH1B | ENSG00000138400.8 | 6.874E-7 | 0.01 | -2885 | gtex_brain_putamen_basal |
| rs397958743 | 2 | 207628623 | MDH1B | ENSG00000138400.8 | 1.424E-6 | 0.01 | -2886 | gtex_brain_putamen_basal |
| rs3828294 | 2 | 207629904 | MDH1B | ENSG00000138400.8 | 8.333E-7 | 0.01 | -4167 | gtex_brain_putamen_basal |
| rs3214431 | 2 | 207632364 | MDH1B | ENSG00000138400.8 | 1.99E-6 | 0.01 | -6627 | gtex_brain_putamen_basal |
| rs4488642 | 2 | 207645464 | MDH1B | ENSG00000138400.8 | 5.048E-7 | 0.01 | -19727 | gtex_brain_putamen_basal |
| rs1862093 | 2 | 207661913 | MDH1B | ENSG00000138400.8 | 2.759E-6 | 0.01 | -36176 | gtex_brain_putamen_basal |
| rs1862092 | 2 | 207661916 | MDH1B | ENSG00000138400.8 | 1.967E-6 | 0.01 | -36179 | gtex_brain_putamen_basal |
| rs1862091 | 2 | 207662210 | MDH1B | ENSG00000138400.8 | 2.376E-6 | 0.01 | -36473 | gtex_brain_putamen_basal |
| rs888620 | 2 | 207665145 | MDH1B | ENSG00000138400.8 | 2.376E-6 | 0.01 | -39408 | gtex_brain_putamen_basal |
| rs57080389 | 2 | 207674345 | MDH1B | ENSG00000138400.8 | 4.002E-6 | 0.01 | -48608 | gtex_brain_putamen_basal |
| rs60768804 | 2 | 207674545 | MDH1B | ENSG00000138400.8 | 1.531E-6 | 0.01 | -48808 | gtex_brain_putamen_basal |
| rs111824444 | 2 | 207676248 | MDH1B | ENSG00000138400.8 | 3.636E-6 | 0.01 | -50511 | gtex_brain_putamen_basal |
| rs10181234 | 2 | 207682560 | MDH1B | ENSG00000138400.8 | 3.185E-6 | 0.01 | -56823 | gtex_brain_putamen_basal |
| rs4675639 | 2 | 207682937 | MDH1B | ENSG00000138400.8 | 1.764E-6 | 0.01 | -57200 | gtex_brain_putamen_basal |
| rs7582269 | 2 | 207685687 | MDH1B | ENSG00000138400.8 | 3.185E-6 | 0.01 | -59950 | gtex_brain_putamen_basal |
| rs7596719 | 2 | 207686299 | MDH1B | ENSG00000138400.8 | 3.185E-6 | 0.01 | -60562 | gtex_brain_putamen_basal |
| rs7589988 | 2 | 207688068 | MDH1B | ENSG00000138400.8 | 3.795E-6 | 0.01 | -62331 | gtex_brain_putamen_basal |
Section II. Transcriptome annotation
General gene expression (GTEx)
Gene expression during devlopment (BrainCloud)
Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.
Gene expression of temporal and spatial changes (BrainSpan)
Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.
No co-expressed genes in brain regions
Section III. Gene Ontology annotation
| Molecular function | GO term | Evidence | Neuro keywords | PubMed ID |
|---|---|---|---|---|
| GO:0016615 | malate dehydrogenase activity | IEA | - | |
| GO:0005488 | binding | IEA | - | |
| GO:0016491 | oxidoreductase activity | IEA | - | |
| Biological process | GO term | Evidence | Neuro keywords | PubMed ID |
| GO:0006108 | malate metabolic process | IEA | - | |
| GO:0006099 | tricarboxylic acid cycle | IEA | - | |
| GO:0005975 | carbohydrate metabolic process | IEA | - | |
| GO:0055114 | oxidation reduction | IEA | - |
Section V. Pathway annotation
| Pathway name | Pathway size | # SZGR 2.0 genes in pathway | Info |
|---|---|---|---|
| SENGUPTA NASOPHARYNGEAL CARCINOMA DN | 349 | 157 | All SZGR 2.0 genes in this pathway |
| DODD NASOPHARYNGEAL CARCINOMA UP | 1821 | 933 | All SZGR 2.0 genes in this pathway |
| TAKADA GASTRIC CANCER COPY NUMBER DN | 29 | 15 | All SZGR 2.0 genes in this pathway |
| CREIGHTON ENDOCRINE THERAPY RESISTANCE 2 | 473 | 224 | All SZGR 2.0 genes in this pathway |
| ACEVEDO METHYLATED IN LIVER CANCER DN | 940 | 425 | All SZGR 2.0 genes in this pathway |
| MIKKELSEN MEF ICP WITH H3K4ME3 AND H3K27ME3 | 38 | 34 | All SZGR 2.0 genes in this pathway |
| MIKKELSEN ES ICP WITH H3K4ME3 | 718 | 401 | All SZGR 2.0 genes in this pathway |
| MIKKELSEN NPC ICP WITH H3K4ME3 | 445 | 257 | All SZGR 2.0 genes in this pathway |