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  2. MEF2D - myocyte enhancer factor 2D Gene

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

MEF2D 蛋白结构

SRF-TF

SRF-TF: SRF-type transcription factor (DNA-binding and dimerisation domain) (10 - 59)

HJURP_C

HJURP_C: Holliday junction regulator protein family C-terminal repeat (95 - 154)

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  • 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

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