MAML2 (mastermind like transcriptional coactivator 2)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
84441
Gene name Gene Name - the full gene name approved by the HGNC.
Mastermind like transcriptional coactivator 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MAML2
Synonyms (NCBI Gene) Gene synonyms aliases
MAM-3, MAM2, MAM3, MLL-MAML2
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q21
Summary Summary of gene provided in NCBI Entrez Gene.
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 miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(37)
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(13)
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
607537 16259 ENSG00000184384
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Notch signaling pathway
Th1 and Th2 cell differentiation
Human papillomavirus infection 		  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 Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (4)
Causal
Disease term Disease name 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
View all (13 more)		 28346443
Inflammatory bowel disease Inflammatory Bowel Diseases rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468 26192919
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)		 31374203
Show/Hide Unknown Diseases (7)
Unknown
Disease term Disease name Evidence References Source
Ulcerative colitis Ulcerative colitis GWAS
Diabetes Diabetes GWAS
Keratoconus Keratoconus GWAS
Breast Cancer Breast Cancer Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients GWAS, CBGDA
Show/Hide Text Mining Associations (62)
Associations from Text Mining
Disease Name Relationship Type References
Acrospiroma Associate 29079171
Adenocarcinoma of Lung Associate 39218851
Adenolymphoma Associate 32222825, 32960941
Adrenal Gland Diseases Associate 31535311
Agnosia Associate 37672513
Aplasia of Lacrimal and Salivary Glands Associate 35288069
Astrocytoma Associate 31652449
Breast Neoplasms Associate 27207652, 30380176
Carcinogenesis Associate 31097696
Carcinoma Adenosquamous Associate 35457138, 36849671