MAML2 - mastermind like transcriptional coactivator 2 Gene

中文名称：策划者样转录共激活因子 2

种属: Homo sapiens

同用名: MAM2; MAM3; MAM-3; MLL-MAML2

基因 ID: 84441 | 基因类型: protein coding

关于 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.

功能概要

由该基因编码的蛋白质是 Mastermind-like 蛋白质家族的成员。所有家族成员都富含脯氨酸和谷氨酰胺，并包含一个保守的基本结构域，该结构域在其 N 末端结合 Notch 受体 (ICN1-4) 细胞内结构域的锚蛋白重复结构域，并在其 C-总站。这种蛋白质结合由 CBF1、无毛抑制因子 LAG-1 (CSL) 与 ICN 相互作用形成的延伸沟，并正向调节 Notch 信号传导。已在几种 B 细胞衍生的淋巴瘤中观察到该基因的高水平表达。导致与 CRTC1 和 CRTC3 融合蛋白的易位与粘液表皮样癌的发展有关，而与 CXCR4 的易位事件与慢性淋巴细胞白血病 (CLL) 有关。已观察到聚谷氨酰胺道中的拷贝数变异。[RefSeq 提供，2015 年 1 月]

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 基因产物(1)

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

基因本体论

分子功能
生物过程
细胞组分

分子功能 GO 注释	逻辑证据	参考文献	来源
enables protein binding	IPI IPI: 通过物理相互作用推断	12370315	GOA
enables transcription coactivator activity	IDA IDA: 通过直接分析推断	12370315	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in Notch signaling pathway	IDA IDA: 通过直接分析推断	12370315	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: 通过直接分析推断	12370315	GOA

细胞组分 GO 注释	逻辑证据	参考文献	来源
located in nucleus	IDA IDA: 通过直接分析推断	12370315	GOA

EXP：通过实验结果推断 IDA：通过直接分析推断 IPI：通过物理相互作用推断 IMP：通过突变表型推断 IGI：通过遗传相互作用推断 IEP：通过表达模式推断

MAML2 蛋白结构

MamL-1

0
200
400
600
800
1000
1156 a.a.

蛋白主名

其他名称

mastermind-like protein 2

mam-2

MAML2 蛋白互作信息

分类	蛋白名称	蛋白编号	互作蛋白	互作蛋白种属	互作蛋白编号	实验方法	参考文献
种属内	MAML2	Q8IZL2	P46531-PRO_0000007676	Homo sapiens	P46531-PRO_0000007676	Anti Tag CoIP	12370315

种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称

别名

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

直系同源

种属	基因名	来源	基因 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