2. Gene
  3. EPOP - elongin BC and polycomb repressive complex 2 associated protein Gene

EPOP - elongin BC and polycomb repressive complex 2 associated protein Gene

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

中文名称：elongin BC 和 polycomb 抑制复合物 2 相关蛋白

种属: Homo sapiens

同用名: PRR28; C17orf96

基因 ID: 100170841 | 基因类型: protein coding

关于 EPOP

Cytogenetic location: 17q12 Genomic coordinates (GRCh38): 17:38,671,703-38,674,957 (from NCBI)

This gene has 1 transcript (splice variant), 1 gene allele, 83 orthologues and 2 paralogues.

功能概要

预测启用染色质结合活性。预计参与多个过程，包括组蛋白 H2B 保守的 C 端赖氨酸去泛素化；神经元命运承诺；和干细胞分化。预测位于染色体中。预测与 ESC/E (Z) 复合体和 elongin 复合体共定位。 [由基因组资源联盟提供，2022 年 4 月]

Predicted to enable chromatin binding activity. Predicted to be involved in several processes, including histone H2B conserved C-terminal lysine deubiquitination; neuron fate commitment; and stem cell differentiation. Predicted to be located in chromosome. Predicted to colocalize with ESC/E(Z) complex and elongin complex. [provided by Alliance of Genome Resources, Apr 2022]

EPOP 基因产物(1)

mRNA Protein Name
NM_001130677.2 NP_001124149.1 elongin BC and Polycomb repressive complex 2-associated protein

EPOP 蛋白结构

DUF4584

DUF4584: Domain of unknown function (DUF4584) (269 - 373)

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  • 379 a.a.
蛋白主名 其他名称

elongin BC and Polycomb repressive complex 2-associated protein

proline rich 28

关联疾病

疾病名称 别名
Kleefstra Syndrome 2

KLEFS2

Kleefstra Syndrome, Type 2
Weaver Syndrome

Wss

Weaver-Smith Syndrome

WVS

Weaver-Like Syndrome

Weaver-Williams Syndrome

Camptodactyly-Overgrowth-Unusual Facies Syndrome

Camptodactyly - Overgrowth - Unusual Facies

Ezh2 Related Overgrowth

Overgrowth Syndrome With Accelerated Skeletal Maturation, Unusual Facies, And Camptodactyly

Weaver Smith Syndrome

Weaver Like Syndrome

Weaver Williams Syndrome

Camptodactyly-Overgrowth-Unusual Facies

Weaver Syndrome 1

Weaver Syndrome 2

Wvs1

Wvs2
Endometrial Stromal Sarcoma

Ess

Endometrial Stromal Sarcoma, High Grade

Undifferentiated Endometrial Sarcoma

Stromal Sarcoma Of The Corpus Uteri

Sarcoma Endometrial Stromal

Sarcoma, Endometrial Stromal

Undifferentiated Stromal Sarcoma
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

Approval
生物活性分子 (1)
目录号 产品名 作用方式
纯度 是否罕见病
HY-A0126A Epoprostenol sodium 98.38% 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta EPOP VGNC VGNC:72254
Rattus norvegicus EPOP RGD RGD:1587434
Mus musculus EPOP MGD MGI:2143991
Bos taurus EPOP VGNC VGNC:28550
Canis familiaris EPOP VGNC VGNC:40423
Felis catus EPOP VGNC VGNC:98948