Gene: MMAB

326625
ATR|CFAP23|cblB|cob
methylmalonic aciduria (cobalamin deficiency) cblB type
protein-coding
12q24.11
Ensembl:ENSG00000139428 MIM:607568 Vega:OTTHUMG00000169255 UniprotKB:Q96EY8
NG_007096.1
PubMed
0   ANCO-SNPs
ND
1   
NA (AD)  NA (ND)   (Frontal_Cortex)
2.116e-1 (AD)  5.057e-1 (ND)

DNA Methylation

There is no related methylation information for this gene.

Gene Expression in Different Tissues

Temporal and Spatial Expressions (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 average value of the expressions.

Top Co-expressed Genes in Brain-Frontal Cortex (BA9) (GTEx v7)

Top 10 positively co-expressed genes

Gene Symbol Pearson Correlation Coefficient
GRHPR0.892
TMEM420.888
NDUFS70.862
NDUFA110.861
MVK0.86
BOLA10.859
MRPL240.859
MRPL430.856
TBCB0.855
RAB4B0.853

Top 10 negatively co-expressed genes

Gene Symbol Pearson Correlation Coefficient
OR4F5-0.633
OR4F29-0.615
MTRNR2L6-0.426
MTRNR2L9-0.398
MTRNR2L10-0.377
TTLL10-0.369
TTLL10-AS1-0.354
SIX1-0.349
MTRNR2L2-0.349
PABPC4L-0.345

Drugs/Compounds

ID Drug Name Drug Type CAS Num Status Role
DB00200HydroxocobalaminSmall Molecule13422-51-0ApprovedTarget
DB00115CyanocobalaminSmall Molecule68-19-9Approved|NutraceuticalEnzyme
ID Drug Name Action PubMed
C0512461-methylanthracene[1-methylanthracene co-treated with fluoranthene] results in decreased expression of MMAB mRNA28329830
C0297902,2',3',4,4',5-hexachlorobiphenyl"[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of MMAB mRNA"25510870
C0817662,4,4'-trichlorobiphenyl"[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of MMAB mRNA"25510870
C0140242,4,5,2',4',5'-hexachlorobiphenyl"[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of MMAB mRNA"25510870
C0098282,4,5,2',5'-pentachlorobiphenyl"[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of MMAB mRNA"25510870
C0094072,5,2',5'-tetrachlorobiphenyl"[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of MMAB mRNA"25510870
C4591794-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide"[NOG protein co-treated with mercuric bromide co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of MMAB mRNA"27188386
C4591794-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide"[NOG protein co-treated with p-Chloromercuribenzoic Acid co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of MMAB mRNA"27188386
C4591794-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide"[NOG protein co-treated with Phenylmercuric Acetate co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of MMAB mRNA"27188386
C516138(6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine"[NOG protein co-treated with mercuric bromide co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of MMAB mRNA"27188386
C516138(6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine"[NOG protein co-treated with p-Chloromercuribenzoic Acid co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of MMAB mRNA"27188386
C516138(6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine"[NOG protein co-treated with Phenylmercuric Acetate co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of MMAB mRNA"27188386
D000082AcetaminophenAcetaminophen results in decreased expression of MMAB mRNA29067470
D000082AcetaminophenAcetaminophen affects the expression of MMAB mRNA17562736
D016604Aflatoxin B1Aflatoxin B1 affects the expression of MMAB protein20106945
D016604Aflatoxin B1Aflatoxin B1 results in decreased expression of MMAB mRNA27153756
D016604Aflatoxin B1Aflatoxin B1 results in decreased methylation of MMAB gene27153756
D001280AtrazineAtrazine results in decreased expression of MMAB mRNA22378314
D001564Benzo(a)pyreneBenzo(a)pyrene results in decreased expression of MMAB mRNA21871943|2623829
D001564Benzo(a)pyreneAHR protein affects the reaction [Benzo(a)pyrene affects the expression of MMAB mRNA]22228805
D001564Benzo(a)pyreneBenzo(a)pyrene results in decreased expression of MMAB mRNA22228805
D004958EstradiolEstradiol affects the expression of MMAB mRNA22574217
C006780bisphenol Abisphenol A results in decreased methylation of MMAB promoter27312807
C006780bisphenol Abisphenol A results in increased methylation of MMAB promoter27312807
C006780bisphenol Abisphenol A results in decreased expression of MMAB mRNA25181051
C018475butyraldehydebutyraldehyde results in decreased expression of MMAB mRNA26079696
D002220CarbamazepineCarbamazepine affects the expression of MMAB mRNA25979313
D020245p-Chloromercuribenzoic Acid"[NOG protein co-treated with p-Chloromercuribenzoic Acid co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of MMAB mRNA"27188386
D020245p-Chloromercuribenzoic Acidp-Chloromercuribenzoic Acid results in decreased expression of MMAB mRNA26272509
D019327Copper SulfateCopper Sulfate results in decreased expression of MMAB mRNA19549813
D003375CoumestrolCoumestrol results in increased expression of MMAB mRNA19167446
D016572CyclosporineCyclosporine results in decreased expression of MMAB mRNA20106945|2556210
D002945Cisplatin[Cisplatin co-treated with jinfukang] results in increased expression of MMAB mRNA27392435
D004041Dietary FatsDietary Fats results in decreased expression of MMAB mRNA22609946
D004317DoxorubicinDoxorubicin results in decreased expression of MMAB mRNA26873546
D004791Enzyme Inhibitors[Enzyme Inhibitors results in decreased activity of OGA protein] which results in increased O-linked glycosylation of MMAB protein23301498
C024565ethylene dichlorideethylene dichloride results in decreased expression of MMAB mRNA28189721
D005020Ethyl MethanesulfonateEthyl Methanesulfonate results in decreased expression of MMAB mRNA23649840
C007738fluoranthene[1-methylanthracene co-treated with fluoranthene] results in decreased expression of MMAB mRNA28329830
C007738fluoranthenefluoranthene results in decreased expression of MMAB mRNA28329830
D005557FormaldehydeFormaldehyde results in decreased expression of MMAB mRNA23649840
D006830Hydralazine[Hydralazine co-treated with Valproic Acid] results in increased expression of MMAB mRNA17183730
D006861Hydrogen Peroxide[Hydrogen Peroxide co-treated with Theophylline] results in decreased expression of MMAB protein18951874
D006861Hydrogen PeroxideHydrogen Peroxide results in increased expression of MMAB mRNA18951874
C544151jinfukang[Cisplatin co-treated with jinfukang] results in increased expression of MMAB mRNA27392435
C544151jinfukangjinfukang results in increased expression of MMAB mRNA27392435
C045463leflunomideleflunomide results in decreased expression of MMAB mRNA28988120
D018021Lithium ChlorideLithium Chloride results in decreased expression of MMAB mRNA23527032
C042720mercuric bromidemercuric bromide results in decreased expression of MMAB mRNA26272509
C042720mercuric bromide"[NOG protein co-treated with mercuric bromide co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of MMAB mRNA"27188386
C004925methylmercuric chloridemethylmercuric chloride results in decreased expression of MMAB mRNA23458150
C004925methylmercuric chloridemethylmercuric chloride results in decreased expression of MMAB mRNA28001369
D008741Methyl MethanesulfonateMethyl Methanesulfonate results in decreased expression of MMAB mRNA23649840
D018817N-Methyl-3,4-methylenedioxyamphetamine"N-Methyl-3,4-methylenedioxyamphetamine results in increased expression of MMAB mRNA"20188158
C523799MRK 003MRK 003 results in decreased expression of MMAB mRNA21169257
D037742Nanotubes, Carbon"Nanotubes, Carbon analog results in decreased expression of MMAB mRNA"25620056
D037742Nanotubes, Carbon"Nanotubes, Carbon analog results in increased expression of MMAB mRNA"25554681
D037742Nanotubes, Carbon"Nanotubes, Carbon results in decreased expression of MMAB mRNA"25620056
D037742Nanotubes, Carbon"Nanotubes, Carbon results in increased expression of MMAB mRNA"25554681
C410127PCB 180"[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of MMAB mRNA"25510870
D010662Phenylmercuric Acetate"[NOG protein co-treated with Phenylmercuric Acetate co-treated with (6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of MMAB mRNA"27188386
D010662Phenylmercuric AcetatePhenylmercuric Acetate results in decreased expression of MMAB mRNA26272509
C006253pirinixic acidpirinixic acid results in decreased expression of MMAB mRNA18445702
D011192Potassium DichromatePotassium Dichromate results in increased expression of MMAB protein23718831
D011285Pregnenolone CarbonitrilePregnenolone Carbonitrile results in decreased expression of MMAB mRNA28903501
D011794QuercetinQuercetin results in decreased expression of MMAB mRNA21632981
D013749TetrachlorodibenzodioxinTetrachlorodibenzodioxin affects the expression of MMAB mRNA21570461|2892240
D013750TetrachloroethyleneTetrachloroethylene results in decreased expression of MMAB mRNA28973375
D013806Theophylline[Hydrogen Peroxide co-treated with Theophylline] results in decreased expression of MMAB protein18951874
D014028Tobacco Smoke PollutionTobacco Smoke Pollution results in decreased expression of MMAB mRNA28065790
D014212TretinoinTretinoin results in decreased expression of MMAB mRNA23724009
C015559trimellitic anhydridetrimellitic anhydride results in increased expression of MMAB mRNA19042947
D014415TunicamycinTunicamycin results in decreased expression of MMAB mRNA22378314
D014635Valproic Acid[Hydralazine co-treated with Valproic Acid] results in increased expression of MMAB mRNA17183730
D014635Valproic AcidValproic Acid affects the expression of MMAB mRNA25979313
D014635Valproic AcidValproic Acid results in decreased expression of MMAB mRNA23179753|2718838
D014635Valproic AcidValproic Acid affects the expression of MMAB mRNA17292431|1796380
D001335Vehicle EmissionsVehicle Emissions results in increased methylation of MMAB gene25560391

GO/Pathway

GO ID GO Term Qualifier Evidence PubMed
GO:0005515protein binding-IPI25910212  
GO:0005524ATP binding-IEA-  
GO:0008817cob(I)yrinic acid a,c-diamide adenosyltransferase activity-IDA12514191  
GO:0008817cob(I)yrinic acid a,c-diamide adenosyltransferase activity-TAS-  
GO:0031419cobalamin binding-IDA28497574  
GO ID GO Term Qualifier Evidence PubMed
GO:0009235cobalamin metabolic process-TAS28497574  
GO:0009236cobalamin biosynthetic process-IEA-  
GO ID GO Term Qualifier Evidence PubMed
GO:0005759mitochondrial matrix-TAS-  
KEGG ID KEGG Term
hsa00860Porphyrin and chlorophyll metabolism
hsa01100Metabolic pathways
Reactome ID Reactome Term Evidence
R-HSA-1430728MetabolismTAS
R-HSA-1643685DiseaseTAS
R-HSA-196741Cobalamin (Cbl, vitamin B12) transport and metabolismTAS
R-HSA-196849Metabolism of water-soluble vitamins and cofactorsTAS
R-HSA-196854Metabolism of vitamins and cofactorsTAS
R-HSA-3296469Defects in cobalamin (B12) metabolismTAS
R-HSA-3296482Defects in vitamin and cofactor metabolismTAS
R-HSA-3359471Defective MMAB causes methylmalonic aciduria type cblBTAS
R-HSA-5668914Diseases of metabolismTAS

Interactions (STRING v10.5, Interaction Score >= 0.400)

Publications (Co-occurrence of gene symbol strings and ANCO-Dependence terms)

PMID Title (Year) Author Journal
29069827The effect of MVK-MMAB variants, their haplotypes and GxE interactions on serum lipid levels and the risk of coronary heart disease and ischemic stroke. (2017 Sep 22)Miao LOncotarget