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Protein

Mastermind-like protein 2

Gene

MAML2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

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 MAML3.3 Publications

GO - Molecular functioni

  • transcription coactivator activity Source: UniProtKB

GO - Biological processi

Complete GO annotation...

Keywords - Molecular functioni

Activator

Keywords - Biological processi

Notch signaling pathway, Transcription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-1912408. Pre-NOTCH Transcription and Translation.
R-HSA-2122947. NOTCH1 Intracellular Domain Regulates Transcription.
R-HSA-2197563. NOTCH2 intracellular domain regulates transcription.
R-HSA-2644606. Constitutive Signaling by NOTCH1 PEST Domain Mutants.
R-HSA-2894862. Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants.
R-HSA-350054. Notch-HLH transcription pathway.
SignaLinkiQ8IZL2.
SIGNORiQ8IZL2.

Names & Taxonomyi

Protein namesi
Recommended name:
Mastermind-like protein 2
Short name:
Mam-2
Gene namesi
Name:MAML2
Synonyms:KIAA1819
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:16259. MAML2.

Subcellular locationi

  • Nucleus speckle 1 Publication

  • Note: Nuclear, in a punctate manner.

GO - Cellular componenti

  • Golgi apparatus Source: HPA
  • nuclear speck Source: UniProtKB-SubCell
  • nucleoplasm Source: Reactome
  • nucleus Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving MAML2 is found in mucoepidermoid carcinomas, benign Warthin tumors and clear cell hidradenomas. Translocation t(11;19)(q21;p13) with CRTC1. The fusion protein consists of the N-terminus of CRTC1 joined to the C-terminus of MAML2. The reciprocal fusion protein consisting of the N-terminus of MAML2 joined to the C-terminus of CRTC1 has been detected in a small number of mucoepidermoid carcinomas.

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sitei171 – 1722Breakpoint for translocation to form the CRTC1-MAML2 and MAML2-CRTC1 fusion proteins1 Publication

Organism-specific databases

PharmGKBiPA134946327.

Polymorphism and mutation databases

BioMutaiMAML2.
DMDMi296435513.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 11561156Mastermind-like protein 2PRO_0000129495Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Modified residuei175 – 1751PhosphoserineCombined sources

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ8IZL2.
MaxQBiQ8IZL2.
PaxDbiQ8IZL2.
PeptideAtlasiQ8IZL2.
PRIDEiQ8IZL2.

PTM databases

iPTMnetiQ8IZL2.
PhosphoSiteiQ8IZL2.

Expressioni

Tissue specificityi

Widely expressed with high levels detected in placenta, salivary gland and skeletal muscle.1 Publication

Gene expression databases

BgeeiQ8IZL2.
CleanExiHS_MAML2.
ExpressionAtlasiQ8IZL2. baseline and differential.
GenevisibleiQ8IZL2. HS.

Organism-specific databases

HPAiHPA035223.

Interactioni

Subunit structurei

Interacts through its N-terminal region with the ankyrin repeat region of the Notch proteins NOTCH1, NOTCH2, NOTCH3 and NOTCH4. Forms a DNA-binding complex with Notch proteins and RBPSUH/RBP-J kappa.2 Publications

Protein-protein interaction databases

BioGridi124080. 6 interactions.
IntActiQ8IZL2. 2 interactions.
STRINGi9606.ENSP00000412394.

Structurei

3D structure databases

ProteinModelPortaliQ8IZL2.
SMRiQ8IZL2. Positions 33-76.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domaini

The C-terminal domain is required for transcriptional activation.

Sequence similaritiesi

Belongs to the mastermind family.Curated

Phylogenomic databases

eggNOGiENOG410ISMW. Eukaryota.
ENOG4111GMG. LUCA.
GeneTreeiENSGT00530000063317.
HOGENOMiHOG000170727.
HOVERGENiHBG081951.
InParanoidiQ8IZL2.
KOiK06061.
OMAiQDQHSVV.
OrthoDBiEOG7CVPX3.
PhylomeDBiQ8IZL2.
TreeFamiTF332922.

Family and domain databases

InterProiIPR019082. Neuroggenic_mastermind-like_N.
[Graphical view]
PfamiPF09596. MamL-1. 1 hit.
[Graphical view]
SMARTiSM01275. MamL-1. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q8IZL2-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MGDTAPPQAP AGGLGGASGA GLLGGGSVTP RVHSAIVERL RARIAVCRQH
60 70 80 90 100
HLSCEGRYER GRAESSDRER ESTLQLLSLV QHGQGARKAG KHTKATATAA
110 120 130 140 150
TTTAPPPPPA APPAASQAAA TAAPPPPPDY HHHHQQHLLN SSNNGGSGGI
160 170 180 190 200
NGEQQPPAST PGDQRNSALI ALQGSLKRKQ VVNLSPANSK RPNGFVDNSF
210 220 230 240 250
LDIKRIRVGE NLSAGQGGLQ INNGQSQIMS GTLPMSQAPL RKTNTLPSHT
260 270 280 290 300
HSPGNGLFNM GLKEVKKEPG ETLSCSKHMD GQMTQENIFP NRYGDDPGEQ
310 320 330 340 350
LMDPELQELF NELTNISVPP MSDLELENMI NATIKQDDPF NIDLGQQSQR
360 370 380 390 400
STPRPSLPME KIVIKSEYSP GLTQGPSGSP QLRPPSAGPA FSMANSALST
410 420 430 440 450
SSPIPSVPQS QAQPQTGSGA SRALPSWQEV SHAQQLKQIA ANRQQHARMQ
460 470 480 490 500
QHQQQHQPTN WSALPSSAGP SPGPFGQEKI PSPSFGQQTF SPQSSPMPGV
510 520 530 540 550
AGGSGQSKVM ANYMYKAGPS AQGGHLDVLM QQKPQDLSRS FINNPHPAME
560 570 580 590 600
PRQGNTKPLF HFNSDQANQQ MPSVLPSQNK PSLLHYTQQQ QQQQQQQQQQ
610 620 630 640 650
QQQQQQQQQQ QQQQQQQQQQ QSSISAQQQQ QQQSSISAQQ QQQQQQQQQQ
660 670 680 690 700
QQQQQQQQQQ QQQQQPSSQP AQSLPSQPLL RSPLPLQQKL LLQQMQNQPI
710 720 730 740 750
AGMGYQVSQQ QRQDQHSVVG QNTGPSPSPN PCSNPNTGSG YMNSQQSLLN
760 770 780 790 800
QQLMGKKQTL QRQIMEQKQQ LLLQQQMLAD AEKIAPQDQI NRHLSRPPPD
810 820 830 840 850
YKDQRRNVGN MQPTAQYSGG SSTISLNSNQ ALANPVSTHT ILTPNSSLLS
860 870 880 890 900
TSHGTRMPSL STAVQNMGMY GNLPCNQPNT YSVTSGMNQL TQQRNPKQLL
910 920 930 940 950
ANQNNPMMPR PPTLGPSNNN NVATFGAGSV GNSQQLRPNL THSMASMPPQ
960 970 980 990 1000
RTSNVMITSN TTAPNWASQE GTSKQQEALT SAGVRFPTGT PAAYTPNQSL
1010 1020 1030 1040 1050
QQAVGSQQFS QRAVAPPNQL TPAVQMRPMN QMSQTLNGQT MGPLRGLNLR
1060 1070 1080 1090 1100
PNQLSTQILP NLNQSGTGLN QSRTGINQPP SLTPSNFPSP NQSSRAFQGT
1110 1120 1130 1140 1150
DHSSDLAFDF LSQQNDNMGP ALNSDADFID SLLKTEPGND DWMKDINLDE

ILGNNS
Length:1,156
Mass (Da):125,197
Last modified:May 18, 2010 - v2
Checksum:iE0DBDB669BDE6DA1
GO

Sequence cautioni

The sequence AAK93833.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence AAP12462.1 differs from that shown. Reason: Erroneous initiation. Curated
The sequence BAB47448.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti619 – 6213Missing in AAK93831 (PubMed:12539049).Curated
Sequence conflicti619 – 6213Missing in AAK93833 (PubMed:12539049).Curated
Sequence conflicti619 – 6213Missing in BAB47448 (PubMed:11347906).Curated
Sequence conflicti619 – 6213Missing in AAI52450 (PubMed:15489334).Curated
Sequence conflicti619 – 6213Missing in AAP12462 (PubMed:14720503).Curated
Sequence conflicti836 – 8361V → I in CAH10491 (PubMed:14720503).Curated
Sequence conflicti863 – 8631A → T in CAH10491 (PubMed:14720503).Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti896 – 8961P → T.
Corresponds to variant rs7123133 [ dbSNP | Ensembl ].
VAR_063127

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY040322 mRNA. Translation: AAK93831.1.
AY040324 mRNA. Translation: AAK93833.1. Different initiation.
AB058722 mRNA. Translation: BAB47448.1. Different initiation.
AP000779 Genomic DNA. No translation available.
AP000848 Genomic DNA. No translation available.
AP000870 Genomic DNA. No translation available.
BC152449 mRNA. Translation: AAI52450.1.
AY186997 mRNA. Translation: AAP12462.1. Different initiation.
AY186998 mRNA. Translation: AAP12463.1. Different termination.
CR627398 mRNA. Translation: CAH10491.1.
CCDSiCCDS44714.1.
RefSeqiNP_115803.1. NM_032427.3.
UniGeneiHs.371096.
Hs.428214.
Hs.745167.

Genome annotation databases

EnsembliENST00000524717; ENSP00000434552; ENSG00000184384.
GeneIDi84441.
KEGGihsa:84441.
UCSCiuc001pfw.3. human.

Keywords - Coding sequence diversityi

Chromosomal rearrangement, Polymorphism

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY040322 mRNA. Translation: AAK93831.1.
AY040324 mRNA. Translation: AAK93833.1. Different initiation.
AB058722 mRNA. Translation: BAB47448.1. Different initiation.
AP000779 Genomic DNA. No translation available.
AP000848 Genomic DNA. No translation available.
AP000870 Genomic DNA. No translation available.
BC152449 mRNA. Translation: AAI52450.1.
AY186997 mRNA. Translation: AAP12462.1. Different initiation.
AY186998 mRNA. Translation: AAP12463.1. Different termination.
CR627398 mRNA. Translation: CAH10491.1.
CCDSiCCDS44714.1.
RefSeqiNP_115803.1. NM_032427.3.
UniGeneiHs.371096.
Hs.428214.
Hs.745167.

3D structure databases

ProteinModelPortaliQ8IZL2.
SMRiQ8IZL2. Positions 33-76.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi124080. 6 interactions.
IntActiQ8IZL2. 2 interactions.
STRINGi9606.ENSP00000412394.

PTM databases

iPTMnetiQ8IZL2.
PhosphoSiteiQ8IZL2.

Polymorphism and mutation databases

BioMutaiMAML2.
DMDMi296435513.

Proteomic databases

EPDiQ8IZL2.
MaxQBiQ8IZL2.
PaxDbiQ8IZL2.
PeptideAtlasiQ8IZL2.
PRIDEiQ8IZL2.

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000524717; ENSP00000434552; ENSG00000184384.
GeneIDi84441.
KEGGihsa:84441.
UCSCiuc001pfw.3. human.

Organism-specific databases

CTDi84441.
GeneCardsiMAML2.
H-InvDBHIX0010047.
HGNCiHGNC:16259. MAML2.
HPAiHPA035223.
MIMi607537. gene.
neXtProtiNX_Q8IZL2.
PharmGKBiPA134946327.
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiENOG410ISMW. Eukaryota.
ENOG4111GMG. LUCA.
GeneTreeiENSGT00530000063317.
HOGENOMiHOG000170727.
HOVERGENiHBG081951.
InParanoidiQ8IZL2.
KOiK06061.
OMAiQDQHSVV.
OrthoDBiEOG7CVPX3.
PhylomeDBiQ8IZL2.
TreeFamiTF332922.

Enzyme and pathway databases

ReactomeiR-HSA-1912408. Pre-NOTCH Transcription and Translation.
R-HSA-2122947. NOTCH1 Intracellular Domain Regulates Transcription.
R-HSA-2197563. NOTCH2 intracellular domain regulates transcription.
R-HSA-2644606. Constitutive Signaling by NOTCH1 PEST Domain Mutants.
R-HSA-2894862. Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants.
R-HSA-350054. Notch-HLH transcription pathway.
SignaLinkiQ8IZL2.
SIGNORiQ8IZL2.

Miscellaneous databases

ChiTaRSiMAML2. human.
GeneWikiiMAML2.
GenomeRNAii84441.
PROiQ8IZL2.
SOURCEiSearch...

Gene expression databases

BgeeiQ8IZL2.
CleanExiHS_MAML2.
ExpressionAtlasiQ8IZL2. baseline and differential.
GenevisibleiQ8IZL2. HS.

Family and domain databases

InterProiIPR019082. Neuroggenic_mastermind-like_N.
[Graphical view]
PfamiPF09596. MamL-1. 1 hit.
[Graphical view]
SMARTiSM01275. MamL-1. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "t(11;19)(q21;p13) translocation in mucoepidermoid carcinoma creates a novel fusion product that disrupts a Notch signaling pathway."
    Tonon G., Modi S., Wu L., Kubo A., Coxon A.B., Komiya T., O'Neil K., Stover K., El-Naggar A., Griffin J.D., Kirsch I.R., Kaye F.J.
    Nat. Genet. 33:208-213(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, CHROMOSOMAL TRANSLOCATION WITH MECT1.
  2. "Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro."
    Nagase T., Nakayama M., Nakajima D., Kikuno R., Ohara O.
    DNA Res. 8:85-95(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  5. "Altered Notch signaling resulting from expression of a WAMTP1-MAML2 gene fusion in mucoepidermoid carcinomas and benign Warthin's tumors."
    Enlund F., Behboudi A., Andren Y., Oberg C., Lendahl U., Mark J., Stenman G.
    Exp. Cell Res. 292:21-28(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 139-1156, TISSUE SPECIFICITY, CHROMOSOMAL TRANSLOCATION WITH CRTC1/MECT1.
    Tissue: Carcinoma.
  6. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 818-1156.
    Tissue: Amygdala.
  7. "Identification of new human mastermind proteins defines a family that consists of positive regulators for Notch signaling."
    Lin S.-E., Oyama T., Nagase T., Harigaya K., Kitagawa M.
    J. Biol. Chem. 277:50612-50620(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH NOTCH1.
  8. "Identification of a family of mastermind-like transcriptional coactivators for mammalian notch receptors."
    Wu L., Sun T., Kobayashi K., Gao P., Griffin J.D.
    Mol. Cell. Biol. 22:7688-7700(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH NOTCH1; NOTCH2; NOTCH3 AND NOTCH4.
  9. "Clear cell hidradenoma of the skin-a third tumor type with a t(11;19)-associated TORC1-MAML2 gene fusion."
    Behboudi A., Winnes M., Gorunova L., van den Oord J.J., Mertens F., Enlund F., Stenman G.
    Genes Chromosomes Cancer 43:202-205(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: CHROMOSOMAL TRANSLOCATION WITH CRTC1.
  10. "Toward a comprehensive characterization of a human cancer cell phosphoproteome."
    Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J., Mohammed S.
    J. Proteome Res. 12:260-271(2013) [PubMed] [Europe PMC] [Abstract]
    Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-175, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
    Tissue: Erythroleukemia.

Entry informationi

Entry nameiMAML2_HUMAN
AccessioniPrimary (citable) accession number: Q8IZL2
Secondary accession number(s): A7MD26
, Q6AI23, Q6Y3A3, Q8IUL3, Q96JK6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 5, 2005
Last sequence update: May 18, 2010
Last modified: July 6, 2016
This is version 116 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.