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    MAML2 mastermind like transcriptional coactivator 2 [ Homo sapiens (human) ]

    Gene ID: 84441, updated on 28-Oct-2024

    Summary

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    Official Symbol
    MAML2provided by HGNC
    Official Full Name
    mastermind like transcriptional coactivator 2provided by HGNC
    Primary source
    HGNC:HGNC:16259
    See related
    Ensembl:ENSG00000184384 MIM:607537; AllianceGenome:HGNC:16259
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    MAM2; MAM3; MAM-3; MLL-MAML2
    Summary
    The protein encoded by this gene is a member of the Mastermind-like family of proteins. All family members are proline and glutamine-rich, and contain a conserved basic domain that binds the ankyrin repeat domain of the intracellular domain of the Notch receptors (ICN1-4) in their N-terminus, and a transcriptional activation domain in their C-terminus. This protein binds to an extended groove that is formed by the interaction of CBF1, Suppressor of Hairless, LAG-1 (CSL) with ICN, and positively regulates Notch signaling. High levels of expression of this gene have been observed in several B cell-derived lymphomas. Translocations resulting in fusion proteins with both CRTC1 and CRTC3 have been implicated in the development of mucoepidermoid carcinomas, while a translocation event with CXCR4 has been linked with chronic lymphocytic leukemia (CLL). Copy number variation in the polyglutamine tract has been observed. [provided by RefSeq, Jan 2015]
    Expression
    Ubiquitous expression in spleen (RPKM 4.1), placenta (RPKM 3.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MAML2 in Genome Data Viewer
    Location:
    11q21
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (95976598..96343195, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (95983995..96349198, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (95709762..96076359, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 345 Neighboring gene myotubularin related protein 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5418 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5419 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:95717913-95719112 Neighboring gene ribosomal protein L32 pseudogene 25 Neighboring gene NANOG hESC enhancer GRCh37_chr11:95745200-95745803 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:95772973-95773473 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3852 Neighboring gene Sharpr-MPRA regulatory region 5330 Neighboring gene HNF4 motif-containing MPRA enhancer 300 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:95882751-95883950 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5420 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:95913186-95914079 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr11:95914080-95914972 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5421 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5422 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5423 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5424 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5425 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 5426 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:96057720-96058919 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:96065505-96066005 Neighboring gene Sharpr-MPRA regulatory region 6339 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3853 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3854 Neighboring gene microRNA 1260b Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3855 Neighboring gene coiled-coil domain containing 82 Neighboring gene JRK like

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. [MAML2 gene rearrangement, fusion patterns and clinicopathological characteristics in primary pulmonary mucoepidermoid carcinoma]. Zhang X, et al. Zhonghua Bing Li Xue Za Zhi, 2021 Aug 8. PMID 34344072
    2. Genetic variant of MAML2 in the NOTCH signaling pathway and the risk of bladder cancer: A STROBE-compliant study. Shen Y, et al. Medicine (Baltimore), 2020 Jan. PMID 31914088, Free PMC Article
    3. Glandular odontogenic cysts (GOCs) lack MAML2 rearrangements: a finding to discredit the putative nature of GOC as a precursor to central mucoepidermoid carcinoma. Bishop JA, et al. Head Neck Pathol, 2014. PMID 24647913, Free PMC Article
    4. MAML2 rearrangement as a useful diagnostic marker discriminating between Warthin tumour and Warthin-like mucoepidermoid carcinoma. Bieńkowski M, et al. Virchows Arch, 2020 Sep. PMID 32222825, Free PMC Article
    5. Analysis of MAML2 rearrangement in mucoepidermoid carcinoma of the thymus. Roden AC, et al. Hum Pathol, 2013 Dec. PMID 24134933

    See all (100) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Significance of YAP1-MAML2 rearrangement and GTF2I mutation in the diagnosis and differential diagnosis of metaplastic thymoma.
      Title: Significance of YAP1-MAML2 rearrangement and GTF2I mutation in the diagnosis and differential diagnosis of metaplastic thymoma.
    2. Pathogenic variations in MAML2 and MAMLD1 contribute to congenital hypothyroidism due to dyshormonogenesis by regulating the Notch signalling pathway.
      Title: Pathogenic variations in MAML2 and MAMLD1 contribute to congenital hypothyroidism due to dyshormonogenesis by regulating the Notch signalling pathway.
    3. Malignant undifferentiated epithelioid neoplasms with MAML2 rearrangements: A clinicopathologic study of seven cases demonstrating a heterogenous entity.
      Title: Malignant undifferentiated epithelioid neoplasms with MAML2 rearrangements: A clinicopathologic study of seven cases demonstrating a heterogenous entity.
    4. Establishment of Mucoepidermoid Carcinoma Cell Lines from Surgical and Recurrence Biopsy Specimens.
      Title: Establishment of Mucoepidermoid Carcinoma Cell Lines from Surgical and Recurrence Biopsy Specimens.
    5. Mucoepidermoid carcinoma may be devoid of squamoid cells by immunohistochemistry: expanding the histologic and immunohistochemical spectrum of MAML2- rearranged salivary gland tumours.
      Title: Mucoepidermoid carcinoma may be devoid of squamoid cells by immunohistochemistry: expanding the histologic and immunohistochemical spectrum of MAML2- rearranged salivary gland tumours.
    6. MAML2 Gene Rearrangement Occurs in Nearly All Hidradenomas: A Reappraisal in a Series of 20 Cases.
      Title: MAML2 Gene Rearrangement Occurs in Nearly All Hidradenomas: A Reappraisal in a Series of 20 Cases.
    7. Recurrent YAP1::MAML2 fusions in ""nodular necrotizing"" variants of myxoinflammatory fibroblastic sarcoma: a comprehensive study of 7 cases.
      Title: Recurrent YAP1::MAML2 fusions in "nodular necrotizing" variants of myxoinflammatory fibroblastic sarcoma: a comprehensive study of 7 cases.
    8. Diagnostic Value of MAML2 Rearrangements in Mucoepidermoid Carcinoma.
      Title: Diagnostic Value of MAML2 Rearrangements in Mucoepidermoid Carcinoma.
    9. Salivary mucoepidermoid carcinoma: histological variants, grading systems, CRTC1/3-MAML2 fusions, and clinicopathological features.
      Title: Salivary mucoepidermoid carcinoma: histological variants, grading systems, CRTC1/3-MAML2 fusions, and clinicopathological features.
    10. KMT2A-MAML2 rearrangement emerged and regressed during neuroblastoma therapy without leukemia after 12.8-year follow-up.
      Title: KMT2A-MAML2 rearrangement emerged and regressed during neuroblastoma therapy without leukemia after 12.8-year follow-up.
    Submit: New GeneRIF Correction See all GeneRIFs (76)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study.
    EBI GWAS Catalog
    Genetic variant predicts bevacizumab-induced hypertension in ECOG-5103 and ECOG-2100.
    EBI GWAS Catalog
    Genome-wide association study in Han Chinese identifies three novel loci for human height.
    EBI GWAS Catalog
    Genome-wide interrogation of germline genetic variation associated with treatment response in childhood acute lymphoblastic leukemia.
    EBI GWAS Catalog
    GWAS for discovery and replication of genetic loci associated with sudden cardiac arrest in patients with coronary artery disease.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog
    Identification of a candidate gene for astigmatism.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Vif vif HIV-1 Vif downregulates the expression of mastermind-like 2 (MAML2) in Vif-expression T cells PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • KIAA1819, MGC176701, DKFZp686N0150

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables transcription coactivator activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables transcription coactivator activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in Notch signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of transcription of Notch receptor target IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in nuclear speck IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nucleoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    mastermind-like protein 2
    Names
    mam-2
    mastermind-like 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_032427.4 → NP_115803.1  mastermind-like protein 2

      See identical proteins and their annotated locations for NP_115803.1

      Status: REVIEWED

      Source sequence(s)
      AB058722, AP000848, AY186997, BC152449, CR627398, DA862475
      Consensus CDS
      CCDS44714.1
      UniProtKB/Swiss-Prot
      A7MD26, Q6AI23, Q8IZL2, Q96JK6
      UniProtKB/TrEMBL
      B7ZL21
      Related
      ENSP00000434552.1, ENST00000524717.6
      Conserved Domains (2) summary
      pfam03153
      Location:916 → 1146
      TFIIA; Transcription factor IIA, alpha/beta subunit
      pfam09596
      Location:33 → 88
      MamL-1; MamL-1 domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      95976598..96343195 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011543023.4 → XP_011541325.1  mastermind-like protein 2 isoform X1

      UniProtKB/TrEMBL
      B7ZL21
      Conserved Domains (1) summary
      pfam03153
      Location:769 → 999
      TFIIA; Transcription factor IIA, alpha/beta subunit

    2. XM_047427710.1 → XP_047283666.1  mastermind-like protein 2 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      95983995..96349198 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054370189.1 → XP_054226164.1  mastermind-like protein 2 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q8IZL2.2 GenPept UniProtKB/Swiss-Prot:Q8IZL2

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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