1. Gene
  2. BCL9L - BCL9 like Gene

BCL9L - BCL9 like Gene

中文名称:BCL9 样

种属: Homo sapiens

同用名: B9L; BCL9-2; DLNB11

基因 ID: 283149 | 基因类型: protein coding

关于 BCL9L

Cytogenetic location: 11q23.3 Genomic coordinates (GRCh38): 11:118,896,136-118,925,926 (from NCBI)

This gene has 5 transcripts (splice variants), 192 orthologues, 1 paralogue and is associated with 82 phenotypes. Ubiquitous expression in placenta (RPKM 7.2), appendix (RPKM 7.1) and 25 other tissues.

功能概要

启用 β-连环蛋白结合活性。参与多个过程,包括转化生长因子β受体信号通路的负调控;上皮间充质转化的正调控;和 RNA 聚合酶 II 对转录的正调控。位于核仁和核质中。 β-连环蛋白-TCF 复合物的一部分。 [由基因组资源联盟提供,2022 年 4 月]

Enables beta-catenin binding activity. Involved in several processes, including negative regulation of transforming growth factor beta receptor signaling pathway; positive regulation of epithelial to mesenchymal transition; and positive regulation of transcription by RNA polymerase II. Located in nucleolus and nucleoplasm. Part of beta-catenin-TCF complex. [provided by Alliance of Genome Resources, Apr 2022]

BCL9L 基因产物(3)

mRNA Protein Name
NM_001378213.1 NP_001365142.1 B-cell CLL/lymphoma 9-like protein isoform a
NM_001378214.1 NP_001365143.1 B-cell CLL/lymphoma 9-like protein isoform b
NM_182557.4 NP_872363.1 B-cell CLL/lymphoma 9-like protein isoform a
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 beta-catenin binding IDA
IDA: 通过直接分析推断
15574752 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
part of beta-catenin-TCF complex IDA
IDA: 通过直接分析推断
28296634 GOA
located in nucleus IDA
IDA: 通过直接分析推断
15574752 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

BCL9L 蛋白结构

BCL9

BCL9: B-cell lymphoma 9 protein (398 - 428)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1499 a.a.
蛋白主名 其他名称

B-cell CLL/lymphoma 9-like protein

B cell CLL/lymphoma 9 like

关联疾病

疾病名称 别名
Waardenburg Syndrome, Type 2e

Waardenburg Syndrome Type 2

Waardenburg Syndrome Type 2e

WS2E

Waardenburg Syndrome, Type 2e, With Or Without Neurologic Involvement

Waardenburg Syndrome, Type Iie

Hypogonadotropic Hypogonadism With Anosmia And Deafness With Or Without Hypopigmentation

Waardenburg Syndrome Type 2e With Or Without Neurologic Involvement

Waardenburg Syndrome Type Iie

Hypogonadotropic Hypogonadism With Anosmia And Deafness, With Or Without Hypopigmentation

Ws2e, With Or Without Neurologic Involvement

Ws2e With Or Without Neurological Involvement

Ws 2

Ws Type 2

Ws2

Waardenburg Syndrome Type Ii

Waardenburg Syndrome 2e

Kallmann Syndrome And Deafness With Or Without Hypopigmentation

Ws2e With Or Without Neurologic Involvement

Waardenburg Syndrome Type 2e, Without Neurologic Involvement

Ws-2

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 BCL9L VGNC VGNC:70113
Felis catus BCL9L VGNC VGNC:60090
Mus musculus BCL9L MGD MGI:1933114
Rattus norvegicus BCL9L RGD RGD:1309096
Bos taurus BCL9L VGNC VGNC:58093
Canis familiaris BCL9L VGNC VGNC:58091