MEF2D - myocyte enhancer factor 2D Gene

中文名称：肌细胞增强因子 2D

种属: Homo sapiens

基因 ID: 4209 | 基因类型: protein coding

关于 MEF2D

Cytogenetic location: 1q22 Genomic coordinates (GRCh38): 1:156,463,727-156,500,775 (from NCBI)

This gene has 6 transcripts (splice variants), 253 orthologues and 4 paralogues. Ubiquitous expression in bone marrow (RPKM 18.8), brain (RPKM 15.5) and 25 other tissues.

功能概要

该基因是肌细胞特异性增强因子 2 (MEF2) 转录因子家族的成员。该家族的成员参与控制肌肉和神经元细胞的分化和发育，并受 II 类组蛋白脱乙酰酶的调节。在急性淋巴细胞白血病细胞系中发现了由于易位导致的编码蛋白与缺失的无精症相关蛋白 1 (DAZAP1) 的融合，表明其在白血病发生中的作用。编码的蛋白质也可能与帕金森病和强直性肌营养不良有关。可变剪接导致多个转录本变体。[RefSeq 提供，2012 年 10 月]

This gene is a member of the myocyte-specific enhancer factor 2 (MEF2) family of transcription factors. Members of this family are involved in control of muscle and neuronal cell differentiation and development, and are regulated by class II histone deacetylases. Fusions of the encoded protein with Deleted in Azoospermia-Associated Protein 1 (DAZAP1) due to a translocation have been found in an acute lymphoblastic leukemia cell line, suggesting a role in leukemogenesis. The encoded protein may also be involved in Parkinson disease and myotonic dystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2012]

MEF2D 基因产物(2)

mRNA	Protein	Name
NM_001271629.2	NP_001258558.1	myocyte-specific enhancer factor 2D isoform 2
NM_005920.4	NP_005911.1	myocyte-specific enhancer factor 2D isoform 1

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 DNA-binding transcription factor activity, RNA polymerase II-specific	IDA IDA: 通过直接分析推断	20590529	GOA
enables DNA-binding transcription factor binding	IPI IPI: 通过物理相互作用推断	20590529	GOA
enables RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA IDA: 通过直接分析推断	20590529	GOA
enables RNA polymerase II-specific DNA-binding transcription factor binding	IPI IPI: 通过物理相互作用推断	16043483	GOA
enables histone deacetylase binding	IPI IPI: 通过物理相互作用推断	20590529	GOA
enables protein binding	IPI IPI: 通过物理相互作用推断	21030595	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: 通过直接分析推断	28473536	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in adult heart development	IEP IEP: 通过表达模式推断	10458488	GOA
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: 通过直接分析推断	20590529	GOA
involved in positive regulation of vascular associated smooth muscle cell proliferation	IGI IGI: 通过遗传相互作用推断	29118903	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	20590529	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

MEF2D 蛋白结构

SRF-TF

HJURP_C

0
100
200
300
400
521 a.a.

蛋白主名

其他名称

myocyte-specific enhancer factor 2D

MADS box transcription enhancer factor 2, polypeptide D

关联疾病

疾病名称

别名

Migraine Without Aura

Common Migraine	Migraine With Or Without Aura, Susceptibility To
Migraine Without Aura, Susceptibility To	Acute Migraine Without Aura

Brachydactyly, Type E1

Brachydactyly Type E1	Brachydactyly Type E
BDE1	Brachydactyly, Type E
Bde	Type E Brachydactyly
Brachydactyly E1	Brachydactyly Syndrome Type E

Burkitt Lymphoma

Burkitt'S Lymphoma	BL
Burkitt Lymphoma, Somatic	Burkitt Lymphoma/Leukaemia
Burkitt'S Tumor	Burkitt'S Tumor Or Lymphoma
Malignant Lymphoma, Burkitt'S Type	Small Non-Cleaved Cell Lymphoma, Burkitt'S Type
Small Non-Cleaved Cell Lymphoma	Burkitt Tumor
Burkitts Lymphoma	Lymphoma, Small Noncleaved-Cell
Burkitt Tumour	Diffuse Small Noncleaved Malignant Burkitt Lymphoma
Malignant Burkitt Lymphoma	“Burkitt-Like” Lymphoma
Undifferentiated Burkitt Lymphoma	Small Noncleaved Cell Burkitt Lymphoma

Colorectal Cancer

Colon Cancer	Colorectal Carcinoma
Colon Carcinoma	Colorectal Cancer, Susceptibility To
Carcinoma Of Colon	CRC
Colorectal Cancer With Chromosomal Instability, Somatic	Colon Cancer, Somatic
Colon Cancer, Susceptibility To	Colonic Neoplasms
Colorectal Neoplasms	Colorectal Cancer, Somatic
Colon Cancer, Advanced, Somatic	Colonic Carcinoma
Colorectal Carcinomas	Colon Cancers
Colorectal Cancers	Cancer, Colorectal, Somatic
Cancer, Colon	Cancer, Colorectal, Susceptibility To
Colorectal Neoplasm	Colonic Neoplasm
Malignant Tumor Of Colon

疾病名称	别名
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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-128341	ERK5-IN-2	Inhibitor	98.96%	否
HY-139254	Indirubin-3′-oxime	Inhibitor	99.10%	否
HY-RS08312	MEF2D Human Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS17303	Mef2d Mouse Pre-designed siRNA Set A	Pre-designed Set	/	否
HY-RS23758	Mef2d Rat Pre-designed siRNA Set A	Pre-designed Set	/	否

直系同源

种属	基因名	来源	基因 ID
Mus musculus	MEF2D	MGD	MGI:99533
Canis familiaris	MEF2D	VGNC	VGNC:43145
Bos taurus	MEF2D	VGNC	VGNC:31374
Macaca mulatta	MEF2D	VGNC	VGNC:74699
Rattus norvegicus	MEF2D	RGD	RGD:621489
Felis catus	MEF2D	VGNC	VGNC:68230

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