Gene info: ID 84441

Gene: MAML2

GENE ID: 84441

Synonyms: MAM-3|MAM2|MAM3|MLL-MAML2

Description: mastermind like transcriptional coactivator 2

Gene type: protein-coding

Location: 11q21

dbXrefs: Ensembl:ENSG00000184384 MIM:607537 Vega:OTTHUMG00000167677 UniprotKB:Q8IZL2

RefSeq: NC_000011.10

Retrived from: PubMed|SNP Mapped

SNPs: 2 ANCO-SNPs

Phenotype: ND|AD

# Publications: 1

Sherlock p-value : NA (AD) NA (ND) (Frontal_Cortex)

Pascal p-value : 2.987e-1 (AD) 8.741e-1 (ND)

ANCO-SNPs

SNP ID	Position	Alleles	Trait	Variation Type
rs12417347	chr11:96224040 (GRCh38.p7)	A>G	alcohol dependence	SNV(Single Nucleotide Variation)
rs607395	chr11:96023248 (GRCh38.p7)	G>A	alcohol dependence	SNV(Single Nucleotide Variation)

DNA Methylation

Probe	Locus(GRCh37)	Gene	Region	p-val	Trait	PubMed ID
cg24088496	chr11:96071506	MAML2		3.970e-11	Alcohol consumption per day	27843151

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
YAP1	0.904
GNG12	0.891
CDC14A	0.89
ARHGAP31	0.886
FERMT2	0.88
PRKD3	0.879
PLSCR4	0.876
PALLD	0.873
PDLIM5	0.872
LRP10	0.87

Top 10 negatively co-expressed genes

Gene Symbol	Pearson Correlation Coefficient
ABCC12	-0.613
SLC7A4	-0.598
HAS1	-0.593
CACNA1F	-0.589
MYADML2	-0.588
CALHM1	-0.588
KCNB2	-0.588
DLK2	-0.578
ADTRP	-0.575
PPEF1	-0.572

There is no DrugBank record for this gene !

ID	Drug Name	Action	PubMed
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	"[NOG protein co-treated with entinostat 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 MAML2 mRNA"	27188386
C459179	4-(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 increased expression of MAML2 mRNA"	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	"[NOG protein co-treated with trichostatin A 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 increased expression of MAML2 mRNA"	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	"[NOG protein co-treated with vorinostat 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 increased expression of MAML2 mRNA"	27188386
C516138	(6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine	"[NOG protein co-treated with entinostat 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 MAML2 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 increased expression of MAML2 mRNA"	27188386
C516138	(6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine	"[NOG protein co-treated with trichostatin A 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 increased expression of MAML2 mRNA"	27188386
C516138	(6-(4-(2-piperidin-1-ylethoxy)phenyl))-3-pyridin-4-ylpyrazolo(1,5-a)pyrimidine	"[NOG protein co-treated with vorinostat 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 increased expression of MAML2 mRNA"	27188386
D000517	alpha-Chlorohydrin	alpha-Chlorohydrin results in decreased expression of MAML2 mRNA	28522335
D001151	Arsenic	Arsenic affects the methylation of MAML2 gene	25304211
D017638	Asbestos, Crocidolite	"Asbestos, Crocidolite affects the expression of MAML2 mRNA"	17331233
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of MAML2 mRNA	20106945\|2163298
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of MAML2 mRNA	21569818
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	"7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide affects the expression of MAML2 mRNA"	20382639
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	"7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of MAML2 mRNA"	19150397\|2001819
C006780	bisphenol A	bisphenol A results in decreased expression of MAML2 mRNA	25181051
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of MAML2 mRNA	19320972
D003300	Copper	[NSC 689534 binds to Copper] which results in decreased expression of MAML2 mRNA	20971185
D016572	Cyclosporine	Cyclosporine results in decreased expression of MAML2 mRNA	25562108
D013759	Dronabinol	Dronabinol results in decreased expression of MAML2 mRNA	16616335
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in decreased expression of MAML2 mRNA	27392435
D002945	Cisplatin	Cisplatin results in decreased expression of MAML2 mRNA	21603599\|2739243
C118739	entinostat	entinostat results in decreased expression of MAML2 mRNA	26272509
C118739	entinostat	"[NOG protein co-treated with entinostat 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 MAML2 mRNA"	27188386
C045651	epigallocatechin gallate	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of MAML2 mRNA	22079256
D005472	Fluorouracil	Fluorouracil results in increased expression of MAML2 mRNA	16510598
D005557	Formaldehyde	Formaldehyde results in decreased expression of MAML2 mRNA	20655997
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of MAML2 mRNA	25613284
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in decreased expression of MAML2 mRNA	27392435
C544151	jinfukang	jinfukang results in decreased expression of MAML2 mRNA	27392435
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of MAML2 mRNA	23086925\|2479639
C045463	leflunomide	leflunomide results in increased expression of MAML2 mRNA	28988120
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of MAML2 mRNA	28001369
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of MAML2 mRNA	23649840
D037742	Nanotubes, Carbon	"Nanotubes, Carbon analog results in decreased expression of MAML2 mRNA"	25554681
D037742	Nanotubes, Carbon	"Nanotubes, Carbon results in decreased expression of MAML2 mRNA"	25554681
D009532	Nickel	Nickel results in decreased expression of MAML2 mRNA	25583101
C558013	NSC 689534	[NSC 689534 binds to Copper] which results in decreased expression of MAML2 mRNA	20971185
D010662	Phenylmercuric 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 increased expression of MAML2 mRNA"	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in increased expression of MAML2 mRNA	26272509
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of MAML2 mRNA	19710929
C027373	potassium chromate(VI)	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of MAML2 mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of MAML2 mRNA	22079256
C513428	pyrachlostrobin	pyrachlostrobin results in increased expression of MAML2 mRNA	27029645
D012906	Smoke	Smoke results in decreased expression of MAML2 mRNA	21095227
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of MAML2 mRNA	20106945\|2163298
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of MAML2 mRNA	25613284
C012589	trichostatin A	"[NOG protein co-treated with trichostatin A 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 increased expression of MAML2 mRNA"	27188386
C012589	trichostatin A	trichostatin A results in increased expression of MAML2 mRNA	26272509
C013320	tris(2-butoxyethyl) phosphate	tris(2-butoxyethyl) phosphate affects the expression of MAML2 mRNA	29024780
D014635	Valproic Acid	Valproic Acid results in decreased expression of MAML2 mRNA	28001369
D014635	Valproic Acid	Valproic Acid results in increased expression of MAML2 mRNA	24935251
C111237	vorinostat	"[NOG protein co-treated with vorinostat 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 increased expression of MAML2 mRNA"	27188386

GO/Pathway

GO ID	GO Term	Qualifier	Evidence	PubMed
GO:0003713	transcription coactivator activity	-	IBA	21873635
GO:0003713	transcription coactivator activity	-	IDA	12370315

GO ID	GO Term	Qualifier	Evidence	PubMed
GO:0006367	transcription initiation from RNA polymerase II promoter	-	TAS	-
GO:0007219	Notch signaling pathway	-	IDA	12370315
GO:0007219	Notch signaling pathway	-	TAS	-
GO:0007221	positive regulation of transcription of Notch receptor target	-	IBA	21873635
GO:0007221	positive regulation of transcription of Notch receptor target	-	TAS	-
GO:0045747	positive regulation of Notch signaling pathway	-	TAS	-
GO:0045944	positive regulation of transcription by RNA polymerase II	-	IDA	12370315

GO ID	GO Term	Qualifier	Evidence	PubMed
GO:0005634	nucleus	-	IDA	12370315
GO:0005654	nucleoplasm	-	IBA	21873635
GO:0005654	nucleoplasm	-	TAS	-
GO:0016607	nuclear speck	-	IEA	-

KEGG ID	KEGG Term
hsa04330	Notch signaling pathway

Reactome ID	Reactome Term	Evidence
R-HSA-157118	Signaling by NOTCH	IEA
R-HSA-157118	Signaling by NOTCH	TAS
R-HSA-162582	Signal Transduction	IEA
R-HSA-162582	Signal Transduction	TAS
R-HSA-1643685	Disease	TAS
R-HSA-1912408	Pre-NOTCH Transcription and Translation	IEA
R-HSA-1912408	Pre-NOTCH Transcription and Translation	TAS
R-HSA-1912422	Pre-NOTCH Expression and Processing	IEA
R-HSA-1912422	Pre-NOTCH Expression and Processing	TAS
R-HSA-1980143	Signaling by NOTCH1	IEA
R-HSA-1980143	Signaling by NOTCH1	TAS
R-HSA-1980145	Signaling by NOTCH2	TAS
R-HSA-1980145	Signaling by NOTCH2	IEA
R-HSA-2122947	NOTCH1 Intracellular Domain Regulates Transcription	IEA
R-HSA-2122947	NOTCH1 Intracellular Domain Regulates Transcription	TAS
R-HSA-212436	Generic Transcription Pathway	IEA
R-HSA-212436	Generic Transcription Pathway	TAS
R-HSA-2197563	NOTCH2 intracellular domain regulates transcription	TAS
R-HSA-2197563	NOTCH2 intracellular domain regulates transcription	IEA
R-HSA-2644602	Signaling by NOTCH1 PEST Domain Mutants in Cancer	TAS
R-HSA-2644603	Signaling by NOTCH1 in Cancer	TAS
R-HSA-2644606	Constitutive Signaling by NOTCH1 PEST Domain Mutants	TAS
R-HSA-2894858	Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer	TAS
R-HSA-2894862	Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants	TAS
R-HSA-350054	Notch-HLH transcription pathway	TAS
R-HSA-5663202	Diseases of signal transduction	TAS
R-HSA-73857	RNA Polymerase II Transcription	IEA
R-HSA-73857	RNA Polymerase II Transcription	TAS
R-HSA-74160	Gene expression (Transcription)	IEA
R-HSA-74160	Gene expression (Transcription)	TAS
R-HSA-8878159	Transcriptional regulation by RUNX3	IEA
R-HSA-8878159	Transcriptional regulation by RUNX3	TAS
R-HSA-8941856	RUNX3 regulates NOTCH signaling	IEA
R-HSA-8941856	RUNX3 regulates NOTCH signaling	TAS
R-HSA-9012852	Signaling by NOTCH3	TAS
R-HSA-9012852	Signaling by NOTCH3	IEA
R-HSA-9013508	NOTCH3 Intracellular Domain Regulates Transcription	TAS
R-HSA-9013508	NOTCH3 Intracellular Domain Regulates Transcription	IEA

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

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

PMID	Title (Year)	Author	Journal
27709636	PTTG1IP and MAML3, novel genomewide association study genes for severity of hyperresponsiveness in adult asthma. (2017 May)	Nieuwenhuis MA	Allergy