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Entry version 142 (22 Apr 2020)
Sequence version 2 (18 May 2010)
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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

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>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

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • transcription coactivator activity Source: UniProtKB

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionActivator
Biological processNotch signaling pathway, Transcription, Transcription regulation

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1912408 Pre-NOTCH Transcription and Translation
R-HSA-210744 Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells
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
R-HSA-8941856 RUNX3 regulates NOTCH signaling
R-HSA-9013508 NOTCH3 Intracellular Domain Regulates Transcription
R-HSA-9013695 NOTCH4 Intracellular Domain Regulates Transcription

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...
SignaLinki
Q8IZL2

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q8IZL2

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Mastermind-like protein 2
Short name:
Mam-2
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:MAML2
Synonyms:KIAA1819
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Human Gene Nomenclature Database

More...
HGNCi
HGNC:16259 MAML2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
607537 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q8IZL2

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>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.1 Publication

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections ('Function', 'PTM / Processing', 'Pathology and Biotech') according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei171 – 172Breakpoint for translocation to form the CRTC1-MAML2 and MAML2-CRTC1 fusion proteins1 Publication2

Organism-specific databases

DisGeNET

More...
DisGeNETi
84441

Open Targets

More...
OpenTargetsi
ENSG00000184384

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA134946327

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q8IZL2 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
MAML2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
296435513

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001294951 – 1156Mastermind-like protein 2Add BLAST1156

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei175PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q8IZL2

jPOST - Japan Proteome Standard Repository/Database

More...
jPOSTi
Q8IZL2

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q8IZL2

MaxQB - The MaxQuant DataBase

More...
MaxQBi
Q8IZL2

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
Q8IZL2

PeptideAtlas

More...
PeptideAtlasi
Q8IZL2

PRoteomics IDEntifications database

More...
PRIDEi
Q8IZL2

ProteomicsDB: a multi-organism proteome resource

More...
ProteomicsDBi
71366

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q8IZL2

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q8IZL2

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000184384 Expressed in metanephros and 194 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
Q8IZL2 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...
Genevisiblei
Q8IZL2 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
ENSG00000184384 Low tissue specificity

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>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

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
124080, 10 interactors

Protein interaction database and analysis system

More...
IntActi
Q8IZL2, 2 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000434552

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q8IZL2 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q8IZL2

Database of comparative protein structure models

More...
ModBasei
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the 'Family and domains' section provides general information on the biological role of a domain. The term 'domain' is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The C-terminal domain is required for transcriptional activation.

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the mastermind family.Curated

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410ISMW Eukaryota
ENOG4111GMG LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00950000183201

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
CLU_012528_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
Q8IZL2

KEGG Orthology (KO)

More...
KOi
K06061

Identification of Orthologs from Complete Genome Data

More...
OMAi
NIFSNRY

Database of Orthologous Groups

More...
OrthoDBi
296895at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q8IZL2

TreeFam database of animal gene trees

More...
TreeFami
TF332922

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR019082 Neuroggenic_mastermind-like_N

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF09596 MamL-1, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM01275 MamL-1, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iE0DBDB669BDE6DA1
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087X0G5A0A087X0G5_HUMAN
Mastermind-like protein 2
MAML2
986Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the 'Sequence' section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence AAK93833 differs from that shown. Reason: Erroneous initiation.Curated
The sequence AAP12462 differs from that shown. Reason: Erroneous initiation.Curated
The sequence BAB47448 differs from that shown. Reason: Erroneous initiation. Extended N-terminus.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti619 – 621Missing in AAK93831 (PubMed:12539049).Curated3
Sequence conflicti619 – 621Missing in AAK93833 (PubMed:12539049).Curated3
Sequence conflicti619 – 621Missing in BAB47448 (PubMed:11347906).Curated3
Sequence conflicti619 – 621Missing in AAI52450 (PubMed:15489334).Curated3
Sequence conflicti619 – 621Missing in AAP12462 (PubMed:14720503).Curated3
Sequence conflicti836V → I in CAH10491 (PubMed:14720503).Curated1
Sequence conflicti863A → T in CAH10491 (PubMed:14720503).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_063127896P → T. Corresponds to variant dbSNP:rs7123133Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
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

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS44714.1

NCBI Reference Sequences

More...
RefSeqi
NP_115803.1, NM_032427.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000524717; ENSP00000434552; ENSG00000184384

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
84441

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:84441

UCSC genome browser

More...
UCSCi
uc001pfw.3 human

Keywords - Coding sequence diversityi

Chromosomal rearrangement, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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

3D structure databases

SMRiQ8IZL2
ModBaseiSearch...

Protein-protein interaction databases

BioGridi124080, 10 interactors
IntActiQ8IZL2, 2 interactors
STRINGi9606.ENSP00000434552

PTM databases

iPTMnetiQ8IZL2
PhosphoSitePlusiQ8IZL2

Polymorphism and mutation databases

BioMutaiMAML2
DMDMi296435513

Proteomic databases

EPDiQ8IZL2
jPOSTiQ8IZL2
MassIVEiQ8IZL2
MaxQBiQ8IZL2
PaxDbiQ8IZL2
PeptideAtlasiQ8IZL2
PRIDEiQ8IZL2
ProteomicsDBi71366

Protocols and materials databases

Antibodypedia a portal for validated antibodies

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Antibodypediai
31687 250 antibodies

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
84441
DisGeNETi84441

GeneCards: human genes, protein and diseases

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GeneCardsi
MAML2
HGNCiHGNC:16259 MAML2
HPAiENSG00000184384 Low tissue specificity
MIMi607537 gene
neXtProtiNX_Q8IZL2
OpenTargetsiENSG00000184384
PharmGKBiPA134946327

Human Unidentified Gene-Encoded large proteins database

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HUGEi
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GenAtlas: human gene database

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GenAtlasi
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Phylogenomic databases

eggNOGiENOG410ISMW Eukaryota
ENOG4111GMG LUCA
GeneTreeiENSGT00950000183201
HOGENOMiCLU_012528_0_0_1
InParanoidiQ8IZL2
KOiK06061
OMAiNIFSNRY
OrthoDBi296895at2759
PhylomeDBiQ8IZL2
TreeFamiTF332922

Enzyme and pathway databases

ReactomeiR-HSA-1912408 Pre-NOTCH Transcription and Translation
R-HSA-210744 Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells
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
R-HSA-8941856 RUNX3 regulates NOTCH signaling
R-HSA-9013508 NOTCH3 Intracellular Domain Regulates Transcription
R-HSA-9013695 NOTCH4 Intracellular Domain Regulates Transcription
SignaLinkiQ8IZL2
SIGNORiQ8IZL2

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
MAML2 human

The Gene Wiki collection of pages on human genes and proteins

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GeneWikii
MAML2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
84441
PharosiQ8IZL2 Tbio

Protein Ontology

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PROi
PR:Q8IZL2
RNActiQ8IZL2 protein

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
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Gene expression databases

BgeeiENSG00000184384 Expressed in metanephros and 194 other tissues
ExpressionAtlasiQ8IZL2 baseline and differential
GenevisibleiQ8IZL2 HS

Family and domain databases

InterProiView protein in InterPro
IPR019082 Neuroggenic_mastermind-like_N
PfamiView protein in Pfam
PF09596 MamL-1, 1 hit
SMARTiView protein in SMART
SM01275 MamL-1, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiMAML2_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q8IZL2
Secondary accession number(s): A7MD26
, Q6AI23, Q6Y3A3, Q8IUL3, Q96JK6
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 5, 2005
Last sequence update: May 18, 2010
Last modified: April 22, 2020
This is version 142 of the entry and version 2 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

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