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  2. TLE6 - TLE family member 6, subcortical maternal complex member Gene

TLE6 - TLE family member 6, subcortical maternal complex member Gene

中文名称:TLE 家族成员 6,皮质下母体复合体成员

种属: Homo sapiens

同用名: GRG6; PREMBL

基因 ID: 79816 | 基因类型: protein coding

关于 TLE6

Cytogenetic location: 19p13.3 Genomic coordinates (GRCh38): 19:2,977,401-2,995,179 (from NCBI)

This gene has 10 transcripts (splice variants), 83 orthologues, 6 paralogues and is associated with 1 phenotype. Broad expression in thyroid (RPKM 2.5), placenta (RPKM 2.5) and 21 other tissues.

功能概要

该基因编码转录共抑制因子分裂家族的 Groucho/转导蛋白样增强子的成员。编码的蛋白质是哺乳动物皮层下母体复合体的一个组成部分,这是植入前发育所必需的。在小鼠中,敲除该基因会导致卵裂期胚胎停滞,这是由于细胞质 F-肌动蛋白网状结构缺陷和不对称细胞分裂所致。在人类中,该基因的等位基因变异与植入前胚胎致死率有关。可变剪接导致多个转录本变体。[RefSeq 提供,2016 年 9 月]

This gene encodes a member of the Groucho/ transducin-like Enhancer of split family of transcriptional co-repressors. The encoded protein is a component of the mammalian subcortical maternal complex, which is required for preimplantation development. In mouse, knock out of this gene results in cleavage-stage embryonic arrest resulting from defective cytoplasmic F-actin meshwork formation and asymmetric cell division. In human, an allelic variant in this gene is associated with preimplantation embryonic lethality. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]

TLE6 基因产物(2)

mRNA Protein Name
NM_001143986.2 NP_001137458.1 transducin-like enhancer protein 6 isoform 1
NM_024760.3 NP_079036.1 transducin-like enhancer protein 6 isoform 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
25542835 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in embryonic process involved in female pregnancy IMP
IMP: 通过突变表型推断
26537248 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
25542835 GOA
part of protein-containing complex IMP
IMP: 通过突变表型推断
26537248 GOA
part of subcortical maternal complex IDA
IDA: 通过直接分析推断
25542835 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
蛋白主名 其他名称

transducin-like enhancer protein 6

transducin like enhancer of split 6

TLE6 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
TLE6 Q9H808 BDNF Homo sapiens P23560-2
Y2H Pooling
32814053
种属内
TLE6 Q9H808 BDNF Homo sapiens P23560-2
Validated Y2H
32814053
种属内
TLE6 Q9H808 BDNF Homo sapiens P23560-2
Y2H Array
32814053
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
Preimplantation Embryonic Lethality 1

Preimplantation Embryonic Lethality

PREMBL1

Prembl

Lethality, Embryonic, Preimplantation

Lethality, Embryonic, Preimplantation, Type 1

Infertility
Gestational Trophoblastic Neoplasm

Hydatidiform Mole

Molar Pregnancy

Gestational Trophoblastic Neoplasia

Gestational Trophoblastic Tumor

Gtn

Gestational Trophoblastic Disease

Gestational Trophoblastic Neoplasms

Hydatidiform Mole, Recurrent, 1

Hydatidiform Mole Benign

Trophoblastic Disease

Trophoblastic Disease Nos

Trophoblastic Disorder

Vesicular Mole Nos

Vesicular Mole

Hydatidiform Mole Nos

Warburg Micro Syndrome 1

Warburg Micro Syndrome

Micro Syndrome

Warbm

WARBM1

Warburg Sjo Fledelius Syndrome

Warburg-Sjo-Fledelius Syndrome

Micro Syndrome 1

Microcephaly, Microcornea, Congenital Cataract, Intellectual Disability, Optic Atrophy And Hypogenitalism

Trophoblastic Neoplasm

Trophoblastic Tumor

Trophoblastic Neoplasms

Beckwith-Wiedemann Syndrome

Wiedemann-Beckwith Syndrome

BWS

Exomphalos-Macroglossia-Gigantism Syndrome

Emg Syndrome

Beckwith-Wiedemann Syndrome Due To Cdkn1c Mutation

Emg Abnormality

Wbs

Exomphalos Macroglossia Gigantism Syndrome

Beckwith-Wiedemann Syndrome Due To Nsd1 Mutation

Macroglossia Exomphalos Gigantism

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 TLE6 VGNC VGNC:79879
Mus musculus TLE6 MGD MGI:2149593
Felis catus TLE6 VGNC VGNC:80735
Rattus norvegicus TLE6 RGD RGD:1561530
Bos taurus TLE6 VGNC VGNC:52895