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  2. EEF1A2 - eukaryotic translation elongation factor 1 alpha 2 Gene

EEF1A2 - eukaryotic translation elongation factor 1 alpha 2 Gene

中文名称:真核翻译延伸因子 1 α 2

种属: Homo sapiens

同用名: HS1; STN; EF1A; STNL; DEE33; MRD38; EEF1AL; EIEE33; EF-1-alpha-2

基因 ID: 1917 | 基因类型: protein coding

关于 EEF1A2

Cytogenetic location: 20q13.33 Genomic coordinates (GRCh38): 20:63,488,014-63,499,083 (from NCBI)

This gene has 8 transcripts (splice variants), 180 orthologues, 18 paralogues and is associated with 5 phenotypes. Biased expression in heart (RPKM 211.2), brain (RPKM 133.2) and 3 other tissues.

功能概要

该基因编码延伸因子 1 复合物的 alpha 亚基的亚型,负责将氨酰 tRNA 酶促递送至核糖体。这种异构体 (α 2) 在大脑、心脏和骨骼肌中表达,另一种异构体 (α 1) 在大脑、胎盘、肺、肝脏、肾脏和胰腺中表达。该基因可能对卵巢癌的发展至关重要。[RefSeq 提供,2014 年 3 月]

This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This isoform (alpha 2) is expressed in brain, heart and skeletal muscle, and the other isoform (alpha 1) is expressed in brain, placenta, lung, liver, kidney, and pancreas. This gene may be critical in the development of ovarian Cancer. [provided by RefSeq, Mar 2014]

EEF1A2 基因产物(1)

mRNA Protein Name
NM_001958.5 NP_001949.1 elongation factor 1-alpha 2

EEF1A2 蛋白结构

GTP_EFTU

GTP_EFTU: Elongation factor Tu GTP binding domain (5 - 237)

GTP_EFTU_D2

GTP_EFTU_D2: Elongation factor Tu domain 2 (260 - 326)

GTP_EFTU_D3

GTP_EFTU_D3: Elongation factor Tu C-terminal domain (333 - 441)

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  • 463 a.a.
蛋白主名 其他名称

elongation factor 1-alpha 2

eukaryotic elongation factor 1 A-2

关联疾病

疾病名称 别名
Developmental And Epileptic Encephalopathy 33

DEE33

Epileptic Encephalopathy, Early Infantile, 33

Eiee33

Developmental And Epileptic Encephalopathy, 33

Early Infantile Epileptic Encephalopathy 33

Encephalopathy, Epileptic, Early Infantile, Type 33

Intellectual Developmental Disorder, Autosomal Dominant 38

Psychomotor Retardation, Epilepsy, And Language Disability Syndrome

MRD38

Prelds

Autosomal Dominant Non-Syndromic Intellectual Disability 38

Mental Retardation, Autosomal Dominant 38

Autosomal Dominant Intellectual Developmental Disorder 38

Autosomal Dominant Mental Retardation 38

Mental Retardation, Autosomal Dominant, Type 38

Ohtahara Syndrome
Developmental And Epileptic Encephalopathy

Encephalopathy, Developmental And Epileptic

Early Infantile Epileptic Encephalopathy

Early Infantile Epileptic Encephalopathy With Burst-Suppression

Early Infantile Epileptic Encephalopathy With Suppression Bursts

Eiee

Early Infantile Epileptic Encephalopathy With Suppression-Bursts

Ohtahara Syndrome

Encephalopathy, Epileptic, Early Infantile

Autosomal Dominant Non-Syndromic Intellectual Disability
Non-Specific Early-Onset Epileptic Encephalopathy

Undetermined Early-Onset Epileptic Encephalopathy

Non-Specific Eoee

Undetermined Eoee

Intrahepatic Biliary Papillomatosis

Intrahepatic Bile Duct Papillary Neoplasm

Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Ovarian Cancer

Ovarian Carcinoma

Ovarian Neoplasm

Malignant Tumour Of Ovary

Cancer Of The Ovary

Epithelial Ovarian Cancer

Neoplasm Of Ovary

Ovarian Neoplasms

Ovarian Cancers

Malignant Neoplasm Of Ovary

Primary Malignant Neoplasm Of Ovary

Ovarian Cancer, Somatic

Malignant Ovarian Tumor

Ovary Neoplasm

Primary Ovarian Cancer

Tumor Of The Ovary

Malignant Neoplasm Of The Ovary

Malignant Tumor Of The Ovary

Ovarian Malignant Tumor

OC

Ovarian Carcinomas

Cancer, Ovarian

Cancer Of Ovary

Ovary Cancer

Ca Ovary

Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome

ACOGS

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

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
Macaca mulatta EEF1A2 VGNC VGNC:72163
Bos taurus EEF1A2 VGNC VGNC:50164
Mus musculus EEF1A2 MGD MGI:1096317
Felis catus EEF1A2 VGNC VGNC:61732
Rattus norvegicus EEF1A2 RGD RGD:3781