MAML2 (mastermind like transcriptional coactivator 2)

Gene

• Entrez ID: 84441
• Gene name: Mastermind like transcriptional coactivator 2
• Gene symbol: MAML2
• Synonyms (NCBI Gene): 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
GO:0003713	Function	Transcription coactivator activity	IDA	12370315
GO:0003713	Function	Transcription coactivator activity	IEA
GO:0005515	Function	Protein binding	IPI	12370315
GO:0005634	Component	Nucleus	IDA	12370315
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IBA
GO:0005654	Component	Nucleoplasm	TAS
GO:0007219	Process	Notch signaling pathway	IDA	12370315
GO:0007219	Process	Notch signaling pathway	IEA
GO:0007221	Process	Positive regulation of transcription of Notch receptor target	IBA
GO:0007221	Process	Positive regulation of transcription of Notch receptor target	IEA
GO:0016607	Component	Nuclear speck	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	12370315
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA

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

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed with high levels detected in placenta, salivary gland and skeletal muscle. {ECO:0000269|PubMed:14720503}.
• 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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, JUVENILE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORNEAL ASTIGMATISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE CHRONIC POLYARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KERATOCONUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MONOARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OTOSCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PAUCIARTICULAR JUVENILE RHEUMATOID ARTHRITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	31343482		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	17551948		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	19269006		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Clear Cell	Adenocarcinoma	BEFREE	27769871		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	28139061		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	28139061		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	28139061		★☆☆☆☆ Found in Text Mining only
Aplasia of Lacrimal and Salivary Glands	Aplasia of lacrimal and salivary glands	Pubtator	35288069	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	31652449	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27207652, 30380176	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	31097696	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22326833	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Mucoepidermoid	Mucoepidermoid carcinoma	Pubtator	15269296, 19164581, 19749740, 20625861, 23018873, 23035786, 24647913, 24714697, 24743219, 24893972, 26503699, 26575266, 27340278, 28438292, 28877061, 29121421, 31021855, 31351495, 31535311, 32221865, 32222825, 32960941, 33832503, 33878706, 34231055, 34247629, 35457138, 35747926, 35879827, 36366450, 39332274, 39549430, 39888274	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	17618868		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	30055028	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	32504288	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	30055028		★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	GWASCAT_DG	28346443		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	28465505		★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	19269006, 31343482		★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	BEFREE	25953768		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	38096983	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	30055028		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	GWASCAT_DG	28346443		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	BEFREE	31652449		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	31652449, 36541697	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	35457138	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	28535805	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	36916425	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	GWASCAT_DG	26192919		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Juvenile psoriatic arthritis	Juvenile arthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Juvenile-Onset Still Disease	Still Disease	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	31855235	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	28535805	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	17551948, 28535805		★☆☆☆☆ Found in Text Mining only
Leukocyte adhesion deficiency type 1	Leukocyte adhesion deficiency	Pubtator	32960941	Associate	★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	36464833	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma Follicular	Lymphoma	Pubtator	35546636	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of salivary gland	Malignant neoplasm of salivary gland	BEFREE	16652146		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17334997, 24134933, 25071166		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	25953768		★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	25953768	Associate	★☆☆☆☆ Found in Text Mining only
Mucoepidermoid Carcinoma	Mucoepidermoid Carcinoma	LHGDN	12539049, 14720503, 16818685, 17437281, 18050304, 18206539		★☆☆☆☆ Found in Text Mining only
Mucoepidermoid Carcinoma	Mucoepidermoid Carcinoma	BEFREE	14720503, 15269296, 16444749, 16652146, 16818685, 17334997, 17437281, 17539914, 17618868, 18050304, 18181164, 18486532, 18647217, 19092631, 19185385, 19269006, 19438452, 19521953, 19531414, 19578770, 19749740, 20588178, 21074686, 21243374, 21668476, 21777943, 22323114, 22582766, 22833306, 22847156, 23018873, 23035786, 23855785, 23975434, 24035723, 24121173, 24513264, 24714697, 24893972, 25359601, 25990369, 26221861, 26255977, 26297211, 26316332, 26457352, 26503699, 27340278, 27393417, 27769871, 28006088, 28412212, 28438292, 28492094, 28877061, 28927048, 28930752, 29076877, 29131467, 29353885, 30138216, 30380176, 30605061, 30954307, 31021855, 31177170, 31351495, 31661572		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	33544757	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	17551948		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	24214394		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	24214394	Associate	★☆☆☆☆ Found in Text Mining only
Neck Neoplasms	Neck Neoplasms	BEFREE	22833306		★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	35546636	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	14720503, 15269296, 15729701, 16444749, 16652146, 16818685, 17334997, 17437281, 17618868, 18181164, 19092631, 19531414, 19578770, 19749740, 21668476, 21676434, 22323114, 22833306, 22847156, 23018873, 23035786, 24714697, 25990369, 26221861, 26457352, 27340278, 27393417, 27402217, 27910944, 28343305, 30475407		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	34550633	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	30485824	Associate	★☆☆☆☆ Found in Text Mining only
Penile Neoplasms	Penile neoplasm	Pubtator	28753783	Associate	★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Negative	Seronegative polyarthritis	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Polyarthritis, Juvenile, Rheumatoid Factor Positive	Polyarthritis, Rheumatoid Factor Positive	CTD_human_DG	19565504		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Autosomal Dominant	Polycystic kidney disease	Pubtator	29687770	Associate	★☆☆☆☆ Found in Text Mining only
Poroma	Poroma	BEFREE	31145701		★☆☆☆☆ Found in Text Mining only
Precursor B-cell lymphoblastic leukemia	Lymphoblastic Leukemia	BEFREE	31343482		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	31343482		★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	28535805		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	36439868	Associate	★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	15961999, 19827123, 27910944, 30380176, 32960941, 33878706, 34231055	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	28535805		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	28535805, 34389065, 35546636	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	31374203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
secondary acute myeloid leukemia	Myeloid leukemia	BEFREE	17551948		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	24134933		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	36916425	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	23128233, 26192919, 28067908		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ulcerative Colitis	Ulcerative colitis	GWASDB_DG	23128233		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	31914088	Associate	★☆☆☆☆ Found in Text Mining only