MAML2 - mastermind like transcriptional coactivator 2 Gene

Also Known as MAM2; MAM3; MAM-3; MLL-MAML2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 84441

About MAML2

Cytogenetic location: 11q21 Genomic coordinates (GRCh38): 11:95,976,598-96,343,195 (from NCBI)

This gene has 2 transcripts (splice variants), 206 orthologues, 2 paralogues and is associated with 90 phenotypes. Ubiquitous expression in spleen (RPKM 4.1), placenta (RPKM 3.9) and 25 other tissues.

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]

MAML2 Products (1)

mRNA	Protein	Name
NM_032427.4	NP_115803.1	mastermind-like protein 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Verweise	Source
enables protein binding	IPI IPI: Inferred from physical interaction	12370315	GOA
enables transcription coactivator activity	IDA IDA: Inferred from direct assay	12370315	GOA

Biological Process GO Annotation	Evidence	Verweise	Source
involved in Notch signaling pathway	IDA IDA: Inferred from direct assay	12370315	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	12370315	GOA

Cellular Component GO Annotation	Evidence	Verweise	Source
located in nucleus	IDA IDA: Inferred from direct assay	12370315	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MAML2 Protein Structure

MamL-1

0
200
400
600
800
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1156 a.a.

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

MAML2 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Verweise
Intra	MAML2	Q8IZL2	P46531-PRO_0000007676	Homo sapiens	P46531-PRO_0000007676	Anti Tag CoIP	12370315

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Hidradenoma	Adenoma, Sweat Gland Hidradenoma Of Skin Sweat Gland Adenoma Syringoadenoma Eccrine Acrospiroma Benign Neoplasm Of Sweat Gland
Salivary Gland Carcinoma	Salivary Gland Cancer Malignant Neoplasm Of Salivary Gland Salivary Gland Neoplasms
Mucoepidermoid Carcinoma	Mec Salivary Gland Mucoepidermoid Carcinoma C3772 Carcinoma Mucoepidermoid Carcinoma, Mucoepidermoid
Eccrine Acrospiroma	Acrospiroma Poroma Eccrine Hidradenoma Eccrine Hidradenoma Of Skin Hidradenoma Adenoma, Sweat Gland Benign Neoplasm Of Sweat Gland Eccrine Poroma
Eccrine Sweat Gland Neoplasm	Eccrine Skin Neoplasm Eccrine Tumor Eccrine Neoplasm Malignant Eccrine Neoplasm
Clear Cell Hidradenoma	Clear Cell Myoepithelioma Eccrine Acrospiroma
Epithelial-Myoepithelial Carcinoma	Clear Cell Adenoma Adenomyo-Epithelioma Clear Cell Carcinoma Emc Epithelial Myoepithelial Carcinoma Glycogen-Rich Adenocarcinoma Glycogen-Rich Adenoma Monomorphic Clear Cell Tumor Tubular Solid Adenoma Adenocarcinoma, Clear Cell
Thymus Mucoepidermoid Carcinoma	Mucoepidermoid Carcinoma Of The Thymus Thymic Mucoepidermoid Carcinoma
Breast Mucoepidermoid Carcinoma	Mucoepidermoid Carcinoma Of Breast Mucoepidermoid Carcinoma Of The Breast
Salivary Gland Disease	Salivary Gland Disorders Salivary Gland Diseases Non-Neoplastic Salivary Gland Disease Non-Neoplastic Salivary Gland Disorder Disorder Of Salivary Gland Lesion Of Salivary Gland Nos
Eccrine Sweat Gland Cancer	Malignant Eccrine Skin Neoplasm Malignant Eccrine Tumor
Lacrimal Gland Mucoepidermoid Carcinoma	Mucoepidermoid Carcinoma Of The Lacrimal Gland
Pleomorphic Adenoma Carcinoma	Carcinoma Ex Pleomorphic Adenoma Carcinoma In Pleomorphic Adenoma
Bronchus Mucoepidermoid Carcinoma
Necrotizing Sialometaplasia	Sialometaplasia, Necrotizing
Lung Adenoid Cystic Carcinoma	Adenoid Cystic Carcinoma Of Lung Pulmonary Adenoid Cystic Carcinoma
Aggressive Digital Papillary Adenocarcinoma
Sweat Gland Cancer	Sweat Gland Carcinoma Malignant Neoplasm Of Sweat Gland Malignant Tumor Of The Sweat Gland Carcinoma Of The Sweat Gland Primary Malignant Neoplasm Of Sweat Gland Sweat Gland Neoplasms
Chondroid Lipoma
Eccrine Porocarcinoma	Porocarcinoma Eccrine Porocarcinoma Of Skin Malignant Eccrine Poroma
Tonsil Cancer	Tonsillar Neoplasms Malignant Neoplasm Of Faucial Tonsil Malignant Neoplasm Of Palatine Tonsil Malignant Neoplasm Of Tonsil, Faucial Malignant Tonsillar Tumor Malignant Tumor Of Tonsil Tonsillar Carcinoma Malignant Neoplasm Tonsil
Lipoadenoma
Sweat Gland Benign Neoplasm	Neoplasm Of Sweat Gland Sweat Gland Tumor Tumor Of The Sweat Gland Sweat Gland Neoplasms Sweat Gland Neoplasm
Cutaneous Mucoepidermoid Carcinoma	Mucoepidermoid Carcinoma Of Skin Mucoepidermoid Skin Carcinoma
Mammary Analogue Secretory Carcinoma
Malignant Acrospiroma	Eccrine Ductal Carcinoma Hidradenocarcinoma Anaplastic Syringoma Eccrine Ductal Carcinoma Of Skin Clear Cell Eccrine Carcinoma Malignant Clear Cell Acrospiroma Malignant Nodular/Clear Cell Hidradenoma Primary Mucoepidermoid Cutaneous Carcinoma Sweat Gland Adenocarcinoma
Breast Secretory Carcinoma	Secretory Breast Carcinoma Juvenile Breast Carcinoma Juvenile Carcinoma Of The Breast Juvenile Secretory Carcinoma Of Breast Juvenile Breast Cancer Sbc Secretory Carcinoma Of The Breast
Breast Metaplastic Carcinoma	Metaplastic Carcinoma Of The Breast Metaplastic Breast Carcinoma Metaplastic Carcinoma Of Breast Metaplastic Breast Cancer
Parotid Gland Cancer	Cancer Of Parotid Gland Parotid Neoplasms Malignant Neoplasm Of The Parotid Malignant Tumor Of Parotid Gland Parotid Cancer Parotid Neoplasm Parotid Gland Carcinoma Cancer Of Parotid Malignant Tumour Of Parotid Gland Parotid Duct Cancer Parotid Ductal Cancer Parotid Glandular Cancer Primary Malignant Neoplasm Of Parotid Gland
Cervical Adenosquamous Carcinoma	Adenosquamous Carcinoma Of Cervix Adenosquamous Cell Carcinoma Of The Cervix Uteri
Lacrimal System Cancer	Neoplasm Of Lacrimal System Lacrimal System Neoplasm Tumor Of The Lacrimal System
Oropharynx Cancer	Oropharyngeal Cancer Oropharyngeal Carcinoma Malignant Neoplasm Of Oropharynx Malignant Oropharyngeal Tumor Malignant Tumor Of Oropharynx Malignant Tumour Of Mesopharynx Oropharyngeal Cancer, Adult Cancer Of The Oropharynx
Schneiderian Carcinoma	Cylindrical Cell Carcinoma
Endobronchial Lipoma
Myoepithelial Carcinoma	Malignant Myoepithelioma Myoepithelioma Carcinoma
Acinar Cell Carcinoma	Acinic Cell Carcinoma Acinic Cell Tumor Carcinoma Acinar Cell Carcinoma, Acinar Cell Acinar Cell Tumor
Bile Duct Mucoepidermoid Carcinoma	Mucoepidermoid Carcinoma Of The Bile Duct Extrahepatic Bile Duct Mucoepidermoid Carcinoma
Sweat Gland Disease	Sweat Gland Diseases
Papillary Cystadenocarcinoma	Cystadenocarcinoma, Papillary
Supratentorial Ependymoma
Parotid Disease	Parotid Diseases
Pancreatic Adenosquamous Carcinoma	Adenosquamous Carcinoma Of Pancreas Adenosquamous Carcinoma Of The Pancreas
Astigmatism
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Wilson-Turner Syndrome WTS Mrxs6 X-Linked Intellectual Disability-Gynecomastia-Obesity Syndrome Mrxswt Wilson-Turner X-Linked Mental Retardation Syndrome Mental Retardation, X-Linked, Syndromic 6 Mental Retardation, X-Linked, With Gynecomastia And Obesity Intellectual Disability, X-Linked, Syndromic 6 Intellectual Disability, X-Linked, With Gynecomastia And Obesity Wilson Turner Intellectual Disability Syndrome X-Linked Intellectual Disability - Gynecomastia - Obesity
Syndromic Intellectual Disability

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Art. -Nr.	Produktname	Wirkung	Reinheit	Rare Diseases
HY-RS03200	CRTC1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS08000	MAML2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22623	Maml2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29138	Maml2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	MAML2	VGNC	VGNC:74297
Rattus norvegicus	MAML2	RGD	RGD:1587536
Bos taurus	MAML2	VGNC	VGNC:31159
Canis familiaris	MAML2	VGNC	VGNC:42940
Mus musculus	MAML2	MGD	MGI:2389460
Felis catus	MAML2	VGNC	VGNC:63372
Others	MAML2	NCBI