MAML2 (mastermind like transcriptional coactivator 2)

Gene

• Entrez ID: 84441
• Gene name: Mastermind like transcriptional coactivator 2
• Gene symbol: MAML2
• Synonyms: MAM-3, MAM2, MAM3, MLL-MAML2
• Chromosome: 11
• Chromosome location: 11q21
• Summary: The protein encoded by this gene is a member of the Mastermind-like family of proteins. All family members are proline and glutamine-rich, and contain a conserved basic domain that binds the ankyrin repeat domain of the intracellular domain of the Notch r

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017074	hsa-miR-335-5p	Microarray	18185580
MIRT536197	hsa-miR-205-5p	PAR-CLIP	22012620
MIRT536196	hsa-miR-3605-3p	PAR-CLIP	22012620
MIRT536195	hsa-miR-6715b-3p	PAR-CLIP	22012620
MIRT536194	hsa-miR-6868-3p	PAR-CLIP	22012620
MIRT440293	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440293	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT536197	hsa-miR-205-5p	PAR-CLIP	22012620
MIRT536196	hsa-miR-3605-3p	PAR-CLIP	22012620
MIRT536195	hsa-miR-6715b-3p	PAR-CLIP	22012620
MIRT536194	hsa-miR-6868-3p	PAR-CLIP	22012620
MIRT1126932	hsa-miR-3168	CLIP-seq
MIRT1126933	hsa-miR-324-5p	CLIP-seq
MIRT1126934	hsa-miR-34b	CLIP-seq
MIRT1126935	hsa-miR-34c-3p	CLIP-seq
MIRT1126936	hsa-miR-4305	CLIP-seq
MIRT1126937	hsa-miR-4724-3p	CLIP-seq
MIRT1126938	hsa-miR-556-3p	CLIP-seq
MIRT2035932	hsa-miR-1261	CLIP-seq
MIRT2266304	hsa-miR-140-3p	CLIP-seq
MIRT2266305	hsa-miR-3941	CLIP-seq
MIRT2266306	hsa-miR-4643	CLIP-seq
MIRT2266307	hsa-miR-466	CLIP-seq
MIRT2266308	hsa-miR-4672	CLIP-seq
MIRT2266309	hsa-miR-4789-3p	CLIP-seq
MIRT2390482	hsa-miR-1183	CLIP-seq
MIRT2035932	hsa-miR-1261	CLIP-seq
MIRT2266304	hsa-miR-140-3p	CLIP-seq
MIRT2390483	hsa-miR-3690	CLIP-seq
MIRT2390484	hsa-miR-3713	CLIP-seq
MIRT2390485	hsa-miR-4254	CLIP-seq
MIRT2390486	hsa-miR-4277	CLIP-seq
MIRT2390487	hsa-miR-4652-3p	CLIP-seq
MIRT2390488	hsa-miR-4653-3p	CLIP-seq
MIRT2035932	hsa-miR-1261	CLIP-seq
MIRT2035932	hsa-miR-1261	CLIP-seq
MIRT2035932	hsa-miR-1261	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003713	Function	Transcription coactivator activity	IBA	21873635
GO:0003713	Function	Transcription coactivator activity	IDA	12370315
GO:0005634	Component	Nucleus	IDA	12370315
GO:0005654	Component	Nucleoplasm	IBA	21873635
GO:0005654	Component	Nucleoplasm	TAS
GO:0006367	Process	Transcription initiation from RNA polymerase II promoter	TAS
GO:0007219	Process	Notch signaling pathway	IDA	12370315
GO:0007219	Process	Notch signaling pathway	TAS
GO:0007221	Process	Positive regulation of transcription of Notch receptor target	IBA	21873635
GO:0007221	Process	Positive regulation of transcription of Notch receptor target	TAS
GO:0016607	Component	Nuclear speck	IEA
GO:0045747	Process	Positive regulation of Notch signaling pathway	TAS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	12370315

Other IDs

• MIM: 607537
• HGNC: 16259
• e!Ensembl: ENSG00000184384

Protein

• UniProt ID: Q8IZL2
• Protein name: Mastermind-like protein 2 (Mam-2)
• Protein function: Acts as a transcriptional coactivator for NOTCH proteins. Has been shown to amplify NOTCH-induced transcription of HES1. Potentiates activation by NOTCH3 and NOTCH4 more efficiently than MAML1 or MAML3. {ECO:0000269|PubMed:12370315, ECO:0000269|
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09596	MamL-1	31 → 88	MamL-1 domain	Domain

• Sequence:

  MGDTAPPQAPAGGLGGASGAGLLGGGSVTPRVHSAIVERLRARIAVCRQHHLSCEGRYER
  GRAESSDRERESTLQLLSLVQHGQGARKAGKHTKATATAATTTAPPPPPAAPPAASQAAA
  TAAPPPPPDYHHHHQQHLLNSSNNGGSGGINGEQQPPASTPGDQRNSALIALQGSLKRKQ
  VVNLSPANSKRPNGFVDNSFLDIKRIRVGENLSAGQGGLQINNGQSQIMSGTLPMSQAPL
  RKTNTLPSHTHSPGNGLFNMGLKEVKKEPGETLSCSKHMDGQMTQENIFPNRYGDDPGEQ
  LMDPELQELFNELTNISVPPMSDLELENMINATIKQDDPFNIDLGQQSQRSTPRPSLPME
  KIVIKSEYSPGLTQGPSGSPQLRPPSAGPAFSMANSALSTSSPIPSVPQSQAQPQTGSGA
  SRALPSWQEVSHAQQLKQIAANRQQHARMQQHQQQHQPTNWSALPSSAGPSPGPFGQEKI
  PSPSFGQQTFSPQSSPMPGVAGGSGQSKVMANYMYKAGPSAQGGHLDVLMQQKPQDLSRS
  FINNPHPAMEPRQGNTKPLFHFNSDQANQQMPSVLPSQNKPSLLHYTQQQQQQQQQQQQQ
  QQQQQQQQQQQQQQQQQQQQQSSISAQQQQQQQSSISAQQQQQQQQQQQQQQQQQQQQQQ
  QQQQQPSSQPAQSLPSQPLLRSPLPLQQKLLLQQMQNQPIAGMGYQVSQQQRQDQHSVVG
  QNTGPSPSPNPCSNPNTGSGYMNSQQSLLNQQLMGKKQTLQRQIMEQKQQLLLQQQMLAD
  AEKIAPQDQINRHLSRPPPDYKDQRRNVGNMQPTAQYSGGSSTISLNSNQALANPVSTHT
  ILTPNSSLLSTSHGTRMPSLSTAVQNMGMYGNLPCNQPNTYSVTSGMNQLTQQRNPKQLL
  ANQNNPMMPRPPTLGPSNNNNVATFGAGSVGNSQQLRPNLTHSMASMPPQRTSNVMITSN
  TTAPNWASQEGTSKQQEALTSAGVRFPTGTPAAYTPNQSLQQAVGSQQFSQRAVAPPNQL
  TPAVQMRPMNQMSQTLNGQTMGPLRGLNLRPNQLSTQILPNLNQSGTGLNQSRTGINQPP
  SLTPSNFPSPNQSSRAFQGTDHSSDLAFDFLSQQNDNMGPALNSDADFIDSLLKTEPGND
  DWMKDINLDEILGNNS

• Sequence length: 1156

Pathways

KEGG:

Notch signaling pathway
Th1 and Th2 cell differentiation
Human papillomavirus infection

Reactome:

Pre-NOTCH Transcription and Translation
NOTCH1 Intracellular Domain Regulates Transcription
NOTCH2 intracellular domain regulates transcription
Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
Notch-HLH transcription pathway
RUNX3 regulates NOTCH signaling
NOTCH3 Intracellular Domain Regulates Transcription
NOTCH4 Intracellular Domain Regulates Transcription

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Arthritis	Juvenile arthritis	rs1594890601, rs1594882933, rs184370809, rs776489319, rs1594883470	19565504
Glioma	Glioma	rs121909219, rs121909224, rs587776667, rs587776671, rs121909239, rs121909241, rs28933368, rs121913500, rs55863639, rs786201995, rs786202517, rs786201044, rs398123317, rs1057518425, rs121913499, rs1060500122, rs781647403, rs1060500126, rs1554897889, rs1114167629, rs1114167656, rs587782603, rs1554893824, rs1554900615, rs1564568660, rs786204900, rs762518389, rs1339631701	28346443
Inflammatory bowel disease	Inflammatory Bowel Diseases	rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs139868987, rs750447828, rs368138379, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468	26192919
Schizophrenia	Schizophrenia	rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313	31374203

Unknown
Disease name	Disease term	dbSNP ID	References
Central nervous system neoplasms	Central Nervous System Neoplasms		28346443
Juvenile arthritis	Juvenile psoriatic arthritis		19565504
Seronegative polyarthritis	Polyarthritis, Juvenile, Rheumatoid Factor Negative		19565504
Polyarthritis, rheumatoid factor positive	Polyarthritis, Juvenile, Rheumatoid Factor Positive		19565504
Still disease	Juvenile-Onset Still Disease		19565504
Ulcerative colitis	Ulcerative Colitis		26192919, 23128233, 28067908