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MAML2

GENERAL INFORMATION

Gene name

 MAML2

Gene description

 Mastermind-like transcriptional coactivator 2

Protein class

 Cancer-related genes
Disease related genes
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 2
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HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Expressed in all
HPA (cell line):Cell line enhanced (HDLM-2)
HPA (normal tissue):Mixed

Protein evidence

 Evidence at protein level

Protein expression
normal tissue

 General nucleus and cytoplasmic expression.

ANTIBODY IHC RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data.

Reliability score

 Approved based on 1 antibody.
HPA035223
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PROGNOSTIC SUMMARY
Prognostic marker in renal cancer (favourable) and pancreatic cancer (unfavourable).
Renal cancer p<0.001
Pancreatic cancer p<0.001
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RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Expressed in all

PROTEIN EXPRESSION
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer

STAINING SUMMARY
HPA035223

GENE INFORMATION

Gene name

 MAML2 (HGNC Symbol)

Synonyms

 KIAA1819, MAM3

Description

 Mastermind-like transcriptional coactivator 2 (HGNC Symbol)

Entrez gene 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]

Chromosome

 11

Cytoband

 q21

Chromosome location (bp)

 95976598 - 96343180

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000184384 (version 83.38)

Entrez gene

 84441

UniProt

 Q8IZL2 (UniProt - Evidence at protein level)

neXtProt

 NX_Q8IZL2

Antibodypedia

 MAML2 antibodies

PROTEIN BROWSER
MAML2-001
MAML2-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
MAML2-001
ENSP00000434552
ENST00000524717
Q8IZL2 [Direct mapping]
Mastermind-like protein 2
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Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
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GO:0003713 [transcription coactivator activity]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005794 [Golgi apparatus]
GO:0006367 [transcription initiation from RNA polymerase II promoter]
GO:0007219 [Notch signaling pathway]
GO:0010467 [gene expression]
GO:0016607 [nuclear speck]
GO:0045944 [positive regulation of transcription from RNA polymerase II promoter]
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 1156 aa
125.2 kDa 		No 0
MAML2-201
ENSP00000483371
ENST00000618849
A0A087X0G5 [Direct mapping]
Mastermind-like protein 2
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Predicted intracellular proteins
Cancer-related genes
   COSMIC somatic mutations in cancer genes
   COSMIC Somatic Mutations
   COSMIC Translocations
Protein evidence (Ezkurdia et al 2014)
Show all
 986 aa
108 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.