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

Gene ID: 84441, updated on 3-Apr-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (95976598..96343195, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (95983995..96349198, complement)
105.20220307 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
  • 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. Malignant undifferentiated epithelioid neoplasms with MAML2 rearrangements: A clinicopathologic study of seven cases demonstrating a heterogenous entity. Dermawan JK, et al. Genes Chromosomes Cancer, 2023 Apr. PMID 36344258, Free PMC Article
  2. Mucoepidermoid carcinoma may be devoid of squamoid cells by immunohistochemistry: expanding the histologic and immunohistochemical spectrum of MAML2- rearranged salivary gland tumours. Bishop JA, et al. Histopathology, 2023 Jan. PMID 36208053
  3. MAML2 Gene Rearrangement Occurs in Nearly All Hidradenomas: A Reappraisal in a Series of 20 Cases. Russell-Goldman E, et al. Am J Dermatopathol, 2022 Nov 1. PMID 35925563
  4. Diagnostic Value of MAML2 Rearrangements in Mucoepidermoid Carcinoma. Thierauf JC, et al. Int J Mol Sci, 2022 Apr 13. PMID 35457138, Free PMC Article
  5. [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

See all (97) 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_2023_10

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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