2. Gene
  3. ESS2 - ess-2 splicing factor homolog Gene

ESS2 - ess-2 splicing factor homolog Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：ess-2 剪接因子同系物

种属: Homo sapiens

同用名: ES2; DGSH; DGSI; bis1; DGS-H; DGS-I; ESS-2; Es2el; DGCR13; DGCR14

基因 ID: 8220 | 基因类型: protein coding

关于 ESS2

Cytogenetic location: 22q11.21 Genomic coordinates (GRCh38): 22:19,130,279-19,144,651 (from NCBI)

This gene has 4 transcripts (splice variants), 200 orthologues and is associated with 1 phenotype. Broad expression in testis (RPKM 19.7), bone marrow (RPKM 2.7) and 21 other tissues.

功能概要

该基因位于最小 DGS 关键区域 (MDGCR) 内，该区域被认为包含导致一组发育障碍的基因。这些疾病包括 DiGeorge 综合征、腭心面综合征、圆锥干面部异常综合征，以及一些与 22q11.2 微缺失相关的家族性或散发性圆锥干心脏缺陷。编码的蛋白质可能是 C 复合体剪接体的一个组成部分，小鼠中的同源蛋白质定位于细胞核。已发现该基因的可变剪接转录物变体。[RefSeq 提供，2015 年 12 月]

This gene is located within the minimal DGS critical region (MDGCR) thought to contain the gene(s) responsible for a group of developmental disorders. These disorders include DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and some familial or sporadic conotruncal cardiac defects which have been associated with microdeletion of 22q11.2. The encoded protein may be a component of C complex spliceosomes, and the orthologous protein in the mouse localizes to the nucleus. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]

ESS2 基因产物(1)

mRNA Protein Name
NM_022719.3 NP_073210.1 splicing factor ESS-2 homolog
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
22365833 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in mRNA splicing, via spliceosome IMP
IMP: 通过突变表型推断
34694367 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of catalytic step 2 spliceosome IDA
IDA: 通过直接分析推断
11991638 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

ESS2 蛋白结构

Es2

Es2: Nuclear protein Es2 (34 - 401)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 476 a.a.
蛋白主名 其他名称

splicing factor ESS-2 homolog

DiGeorge syndrome critical region gene 13

ESS2 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
Intra ESS2 Q96DF8 JPH3 Homo sapiens Q8WXH2
Y2H Pooling
32814053
Intra ESS2 Q96DF8 JPH3 Homo sapiens Q8WXH2
Validated Y2H
32814053
Intra ESS2 Q96DF8 JPH3 Homo sapiens Q8WXH2
Y2H Array
32814053
Intra ESS2 Q96DF8 SMARCD1 Homo sapiens Q96GM5
Validated Y2H
32296183
Intra ESS2 Q96DF8 PRPF19 Homo sapiens Q9UMS4
Anti Tag CoIP
33961781
Intra ESS2 Q96DF8 PRPF19 Homo sapiens Q9UMS4
Anti Tag CoIP
28514442
Intra ESS2 Q96DF8 NXF1 Homo sapiens Q9UBU9
Validated Y2H
32296183
Intra ESS2 Q96DF8 FRA10AC1 Homo sapiens Q70Z53
Anti Tag CoIP
33961781
Intra ESS2 Q96DF8 ARMC7 Homo sapiens Q9H6L4
Validated Y2H
32296183
Intra ESS2 Q96DF8 GFAP Homo sapiens P14136
Y2H Array
32814053
Intra ESS2 Q96DF8 GFAP Homo sapiens P14136
Y2H Pooling
32814053
Intra ESS2 Q96DF8 GFAP Homo sapiens P14136
Validated Y2H
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
Velocardiofacial Syndrome

Shprintzen Syndrome

VCFS

Chromosome 22q11.2 Deletion Syndrome

Vcf Syndrome

Shprintzen Vcf Syndrome

Vcf-Velocardiofacial Syndrome

Velo-Cardio-Facial Syndrome

Digeorge Syndrome

22q11 Deletion Syndrome

Conotruncal Anomaly Face Syndrome
Digeorge Syndrome

Chromosome 22q11.2 Deletion Syndrome

DGS

Hypoplasia Of Thymus And Parathyroids

Third And Fourth Pharyngeal Pouch Syndrome

22q11.2 Deletion Syndrome

Digeorge Sequence

Digeorge'S Syndrome

Pharyngeal Pouch Syndrome

Di-George Syndrome

Shprintzen Syndrome
Ovarian Clear Cell Carcinoma

Clear-Cell Ovarian Carcinoma
Ovarian Clear Cell Adenocarcinoma
Ovary Adenocarcinoma

Ovarian Adenocarcinoma

Adenocarcinoma Of The Ovary

Ovarian Adenoacanthoma

Adenocarcinoma Of Ovary
Serous Cystadenocarcinoma

Serous Adenocarcinoma

Cystadenocarcinoma, Serous

Serous Carcinoma

Cystadenocarcinoma Serous
Papillary Serous Adenocarcinoma

Micropapillary Serous Carcinoma

Serous Surface Papillary Carcinoma

Papillary Serous Carcinoma

Papillary Serous Cystadenocarcinoma
Malignant Ovarian Surface Epithelial-Stromal Neoplasm

Malignant Ovarian Surface Epithelial-Stromal Tumor
Ovary Epithelial Cancer

Ovarian Surface Epithelial-Stromal Tumor

Epithelial Tumor Of Ovary
Ovarian Cystadenocarcinoma

Cystadenocarcinoma Of Ovary

Cystadenocarcinoma Of The Ovary
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS04546 ESS2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta ESS2 VGNC VGNC:72280
Felis catus ESS2 VGNC VGNC:61970
Canis familiaris ESS2 VGNC VGNC:40482
Rattus norvegicus ESS2 RGD RGD:1308218
Bos taurus ESS2 VGNC VGNC:28611
Mus musculus ESS2 MGD MGI:107854
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