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  2. EOMES - eomesodermin Gene

EOMES - eomesodermin Gene

中文名称:胚芽素

种属: Homo sapiens

同用名: TBR2

基因 ID: 8320 | 基因类型: protein coding

关于 EOMES

Cytogenetic location: 3p24.1 Genomic coordinates (GRCh38): 3:27,715,953-27,722,713 (from NCBI)

This gene has 3 transcripts (splice variants), 299 orthologues, 16 paralogues and is associated with 2 phenotypes. Biased expression in lymph node (RPKM 5.9), spleen (RPKM 5.3) and 10 other tissues.

功能概要

该基因属于 T-box 基因的 TBR1 (T-box 脑蛋白 1) 亚家族,它们共享共同的 DNA 结合 T-box 结构域。编码的蛋白质是一种转录因子,对脊椎动物中胚层和中枢神经系统的胚胎发育至关重要。该蛋白也可能是参与防御病毒感染的效应 CD8+ T 细胞分化所必需的。在小鼠中被破坏的类似基因被证明在滋养层发育和原肠胚形成过程中是必不可少的。可变剪接导致多个转录本变体。[RefSeq 提供,2013 年 5 月]

This gene belongs to the TBR1 (T-box brain protein 1) sub-family of T-box genes that share the common DNA-binding T-box domain. The encoded protein is a transcription factor which is crucial for embryonic development of mesoderm and the central nervous system in vertebrates. The protein may also be necessary for the differentiation of effector CD8+ T cells which are involved in defense against viral infections. A similar gene disrupted in mice is shown to be essential during trophoblast development and gastrulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]

EOMES 基因产物(3)

mRNA Protein Name
NM_001278182.2 NP_001265111.1 eomesodermin homolog isoform 1
NM_001278183.2 NP_001265112.1 eomesodermin homolog isoform 3
NM_005442.4 NP_005433.2 eomesodermin homolog isoform 2
基因本体论
  • 分子功能
  • 生物过程
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
32296183 GOA
enables sequence-specific DNA binding IDA
IDA: 通过直接分析推断
20713518 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 CD8-positive, alpha-beta T cell differentiation involved in immune response IMP
IMP: 通过突变表型推断
17566017 GOA
involved in brain development IMP
IMP: 通过突变表型推断
17353897 GOA
acts upstream of or within positive regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
20713518 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

EOMES 蛋白结构

T-box

T-box: T-box (269 - 457)

  • 0
  • 200
  • 400
  • 600
  • 686 a.a.
蛋白主名 其他名称

eomesodermin homolog

T-box brain protein 2

EOMES 抗体

目录号 产品名 应用 反应物种
HY-P87101 TBR2 Antibody (YA6794) WB, IHC-P, IHC-F Human, Mouse

关联疾病

疾病名称 别名
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Bilateral Polymicrogyria
Polymicrogyria

Pmg

Type 1 Diabetes Mellitus 21

Diabetes Mellitus, Insulin-Dependent, 21

Iddm21

T1D21

Insulin-Dependent Diabetes Mellitus 21

Microcephaly

Microencephaly

Microcephalus

Microcephalic

Nanocephaly

Congenital Microcephaly

Brain Hypoplasia

Brain Nondevelopment

Cephalic Hypoplasia

Undeveloped Cerebrum

Undeveloped Brain

Micrencephalon

Micrencephaly

Periventricular Nodular Heterotopia

Periventricular Heterotopia

Pvnh

Familial Nodular Heterotopia

Heterotopia, Periventricular

Periventricular Heterotopia, X-Linked

Band Heterotopia

Subcortical Band Heterotopia

Double Cortex Syndrome

Subcortical Laminar Heterotopia

Double Cortex

Band Heterotopia Of Brain

BH

Heco

Heterotopic Cortex

Familial Band Heterotopia

Dc

Dc Syndrome

Heterotopia, Subcortical Band

Sbh

Sclh

Bhy

Polymicrogyria, Bilateral Perisylvian, X-Linked

Bilateral Perisylvian Polymicrogyria

Polymicrogyria, Bilateral Perisylvian

Pmgx

Perisylvian Syndrome, Congenital Bilateral

Cbps

Congenital Bilateral Perisylvian Syndrome

Perisylvian Syndrome

BPPX

Bpp

Primary Microcephaly

True Microcephaly

Microcephaly, Primary

Primary Autosomal Recessive Microcephaly

Autosomal Recessive Primary Microcephaly

Mcph

True Microcephaly

Microcephalia Vera

Microcephaly Vera

Microcephaly Primary Hereditary

Microcephaly, Primary, Autosomal Recessive

Primary Microcephaly

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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
Felis catus EOMES VGNC VGNC:61888
Bos taurus EOMES VGNC VGNC:28516
Macaca mulatta EOMES VGNC VGNC:110368
Rattus norvegicus EOMES RGD RGD:1359706
Mus musculus EOMES MGD MGI:1201683
Canis familiaris EOMES VGNC VGNC:40389