Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55534
Gene name Gene Name - the full gene name approved by the HGNC.
Mastermind like transcriptional coactivator 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
MAML3
Synonyms (NCBI Gene) Gene synonyms aliases
CAGH3, ERDA3, GDN, MAM-2, MAM2, TNRC3, mam-3
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q31.1
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608991 16272 ENSG00000196782
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Borderline personality disorder Borderline personality disorder N/A N/A GWAS
Diabetes Type 2 diabetes N/A N/A GWAS
Gastroesophageal Reflux Disease Gastroesophageal reflux disease N/A N/A GWAS
Glioblastoma Glioblastoma N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Asthma Associate 27709636
Atrial Fibrillation Associate 33834070
Calcinosis Cutis Associate 33986121
Carcinogenesis Associate 33986121
Carcinoma Small Cell Associate 29734873
Cardiomyopathy Dilated Associate 33860048
Desmoplastic Small Round Cell Tumor Associate 26752546, 27428733
Endometrial Neoplasms Associate 27738313
Gallbladder Neoplasms Associate 37351966
Hypoxia Associate 37351966