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FLASH GENE

Symbol

MAML2

contributors: mct/npt/pgu - updated : 08-01-2018

HGNC name	mastermind-like 2 (Drosophila)
HGNC id	16259

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_032427 5 - 5428 NP_115803 - 1156 - 2007 17551948

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive intestine large intestine colon       mouth tongue       Lymphoid/Immune spleen         Reproductive female system breast mammary gland       female system ovary       Respiratory respiratory tract larynx     highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	one RRM (RNA recognition motif) domain
	two consensus sites for SUMOylation at Lysine217 and Lysine299

conjugated

FlavoP

HOMOLOGY

interspecies

homolog to drosophila Maml2

Homologene

FAMILY	splicing factor sr family
	mastermind family

CATEGORY

regulatory , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleoplasm,nuclear bodies,nuclear speckles

basic FUNCTION	functioning as a CSL (CBF1, suppressor of hairless and Lag1)-dependent transcriptional coactivator for ligand-stimulated Notch
	transcriptional regulators in Notch signaling
	engagement of Mastermind (Mam) is essential for Notch signaling, and MAML1, MAML2, MAML3 have distinct roles

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

MECT1

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral fusion       fused with CRTC1 in t(11;19) (q21;p13) in mucoepidermoid salivary gland carcinoma with a significantly lower risk of local recurrence, metastases, or tumor-related death compared to fusion-negative patients tumoral fusion       with CRTC1 in clear cell variants of cutaneous hidradenomas tumoral fusion       fusion genes CRTC1-MAML2 and CRTC3-MAML2 may play a similar role in the development of mucoepidermoid carcinomas

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	CRTC1/3-MAML2 fusion gene analysis can be a useful method for diagnosing hidradenoma
	detection of the CRTC1/MAML2 fusion transcript provides useful information for mucoepidermoid carcinoma (MEC) diagnosis but is not associated with differences in survival outcomes
	molecular detection of MAML2 rearrangement combined with FLT1 may be of important clinical value for Primary pulmonary mucoepidermoid carcinoma (PMEC)
Therapy target

ANIMAL & CELL MODELS