Gene Gene information from NCBI Gene database.
Entrez ID 55534
Gene name Mastermind like transcriptional coactivator 3
Gene symbol MAML3
Synonyms (NCBI Gene)
CAGH3ERDA3GDNMAM-2MAM2TNRC3mam-3
Chromosome 4
Chromosome location 4q31.1
miRNA miRNA information provided by mirtarbase database.
234
miRTarBase ID miRNA Experiments Reference
MIRT508437 hsa-miR-1255b-2-3p PAR-CLIP 20371350
MIRT508436 hsa-miR-1272 PAR-CLIP 20371350
MIRT508435 hsa-miR-1273g-3p PAR-CLIP 20371350
MIRT508434 hsa-miR-4679 PAR-CLIP 20371350
MIRT508433 hsa-miR-4424 PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608991 16272 ENSG00000196782
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q96JK9
Protein name Mastermind-like protein 3 (Mam-3)
Protein function Acts as a transcriptional coactivator for NOTCH proteins. Has been shown to amplify NOTCH-induced transcription of HES1.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF09596 MamL-1 68 125 MamL-1 domain Domain
Sequence
MGDFAAPAAAANGSSICINSSLNSSLGGAGIGVNNTPNSTPAAPSSNHPAAGGCGGSGGP
GGGSAAVPKHSTVVERLRQRIEGCRRHHVNCENRYQQAQVEQLELERRDTVSLYQRTLEQ
RAKKS
GAGTGKQQHPSKPQQDAEAASAEQRNHTLIMLQETVKRKLEGARSPLNGDQQNGA
CDGNFSPTSKRIRKDISAGMEAINNLPSNMPLPSASPLHQLDLKPSLPLQNSGTHTPGLL
EDLSKNGRLPEIKLPVNGCSDLEDSFTILQSKDLKQEPLDDPTCIDTSETSLSNQNKLFS
DINLNDQEWQELIDELANTVPEDDIQDLFNEDFEEKKEPEFSQPATETPLSQESASVKSD
PSHSPFAHVSMGSPQARPSSSGPPFSTVSTATSLPSVASTPAAPNPASSPANCAVQSPQT
PNQAHTPGQAPPRPGNGYLLNPAAVTVAGSASGPVAVPSSDMSPAEQLKQMAAQQQQRAK
LMQQKQQQQQQQQQQQQQQQQQQQQQQQQQHSNQTSNWSPLGPPSSPYGAAFTAEKPNSP
MMYPQAFNNQNPIVPPMANNLQKTTMNNYLPQNHMNMINQQPNNLGTNSLNKQHNILTYG
NTKPLTHFNADLSQRMTPPVANPNKNPLMPYIQQQQQQQQQQQQQQQQQQPPPPQLQAPR
AHLSEDQKRLLLMKQKGVMNQPMAYAALPSHGQEQHPVGLPRTTGPMQSSVPPGSGGMVS
GASPAGPGFLGSQPQAAIMKQMLIDQRAQLIEQQKQQFLREQRQQQQQQQQQILAEQQLQ
QSHLPRQHLQPQRNPYPVQQVNQFQGSPQDIAAVRSQAALQSMRTSRLMAQNAGMMGIGP
SQNPGTMATAAAQSEMGLAPYSTTPTSQPGMYNMSTGMTQMLQHPNQSGMSITHNQAQGP
RQPASGQGVGMVSGFGQSMLVNSAITQQHPQMKGPVGQALPRPQAPPRLQSLMGTVQQGA
QSWQQRSLQGMPGRTSGELGPFNNGASYPLQAGQPRLTKQHFPQGLSQSVVDANTGTVRT
LNPAAMGRQMMPSLPGQQGTSQARPMVMSGLSQGVPGMPAFSQPPAQQQIPSGSFAPSSQ
SQAYERNAPQDVSYNYSGDGAGGSFPGLPDGADLVDSIIKGGPGDEWMQELDELFGNP
Sequence length 1138
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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 associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
35
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 ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenoid Cystic Carcinoma Adenocarcinoma CTD_human_DG 23685749
★☆☆☆☆
Found in Text Mining only
Adrenal Gland Pheochromocytoma Adrenal Gland Pheochromocytoma BEFREE 31234811
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 27709636
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma Asthma Pubtator 27709636 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation Atrial Fibrillation GWASCAT_DG 27790247
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation Atrial fibrillation Pubtator 33834070 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bronchial Hyperreactivity Bronchial Hyperreactivity BEFREE 27709636
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 33986121 Associate
★☆☆☆☆
Found in Text Mining only
Carcinoma Small Cell Small cell carcinoma Pubtator 29734873 Associate
★☆☆☆☆
Found in Text Mining only
Cardiomyopathy Dilated Dilated cardiomyopathy Pubtator 33860048 Associate
★☆☆☆☆
Found in Text Mining only