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

Gene ID: 84441, updated on 28-Jun-2020

Summary

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
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

Genomic context

See MAML2 in Genome Data Viewer
Location:
11q21
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (95976598..96343308, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (95711440..96076344, 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 ribosomal protein L32 pseudogene 25 Neighboring gene HNF4 motif-containing MPRA enhancer 300 Neighboring gene microRNA 1260b Neighboring gene coiled-coil domain containing 82 Neighboring gene JRK like

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

HIV-1 interactions

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1819, MGC176701, DKFZp686N0150

Gene Ontology Provided by GOA

Function Evidence Code Pubs
transcription coactivator activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription coactivator activity IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
nuclear speck IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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

NCBI Reference Sequences (RefSeq)

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_032427.4NP_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
    Q8IZL2
    Related
    ENSP00000434552.1, ENST00000524717.6
    Conserved Domains (2) summary
    pfam03153
    Location:9161146
    TFIIA; Transcription factor IIA, alpha/beta subunit
    pfam09596
    Location:3388
    MamL-1; MamL-1 domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    95976598..96343308 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011543024.3XP_011541326.1  mastermind-like protein 2 isoform X2

    Related
    ENSP00000483371.1, ENST00000618849.1
    Conserved Domains (1) summary
    pfam03153
    Location:688918
    TFIIA; Transcription factor IIA, alpha/beta subunit
  2. XM_011543023.3XP_011541325.1  mastermind-like protein 2 isoform X1

    Conserved Domains (1) summary
    pfam03153
    Location:769999
    TFIIA; Transcription factor IIA, alpha/beta subunit
  3. XM_011543025.2XP_011541327.1  mastermind-like protein 2 isoform X3

    Conserved Domains (1) summary
    pfam09596
    Location:3388
    MamL-1; MamL-1 domain
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