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 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.
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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Adenocarcinoma Adenoid Cystic Carcinoma rs121913530, rs886039394, rs121913474 23685749
Atrial fibrillation Atrial Fibrillation rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557
View all (6 more)
27790247
Congenital heart defects Congenital Heart Defects, CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 1, X-LINKED, CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2 rs267607101, rs121434422, rs387906498, rs397509416, rs587777371, rs587777372, rs587777374, rs367537998, rs797044882, rs886041730, rs768027510, rs1064793873, rs1555447012, rs1554263268, rs1554263321
View all (13 more)
23708190
Diabetes Diabetes rs80356611 27790247
Unknown
Disease term Disease name Evidence References Source
Coronary heart disease Coronary heart disease 27790247 ClinVar
Heart failure Heart failure 27790247 ClinVar
Gastroesophageal Reflux Disease Gastroesophageal Reflux Disease GWAS
Prostate cancer Prostate cancer Together, these results show that PRRX2 is an oncogene and might play a role in the aggressiveness of PC within the DNPC population. GWAS, CBGDA
Associations from Text Mining
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