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  2. BMX - BMX non-receptor tyrosine kinase Gene

BMX - BMX non-receptor tyrosine kinase Gene

中文名称:BMX 非受体酪氨酸激酶

种属: Homo sapiens

同用名: ETK; PSCTK2; PSCTK3

基因 ID: 660 | 基因类型: protein coding

关于 BMX

Cytogenetic location: Xp22.2 Genomic coordinates (GRCh38): X:15,500,807-15,556,519 (from NCBI)

This gene has 5 transcripts (splice variants), 137 orthologues and 32 paralogues. Broad expression in bone marrow (RPKM 2.4), placenta (RPKM 2.2) and 21 other tissues.

功能概要

该基因编码属于 Tec 激酶家族的非受体酪氨酸激酶。该蛋白质包含一个 PH 样结构域,它通过与磷脂酰肌醇 3,4,5-三磷酸 (PIP3) 结合来介导膜靶向,以及一个与酪氨酸磷酸化蛋白结合并在信号转导中发挥作用的 SH2 结构域。该蛋白涉及多种信号转导途径,包括 STAT 途径,并调节多种癌细胞的分化和致瘤性。已发现该基因的可变剪接转录物变体。[RefSeq 提供,2016 年 3 月]

This gene encodes a non-receptor tyrosine kinase belonging to the Tec kinase family. The protein contains a PH-like domain, which mediates membrane targeting by binding to phosphatidylinositol 3,4,5-triphosphate (PIP3), and a SH2 domain that binds to tyrosine-phosphorylated proteins and functions in signal transduction. The protein is implicated in several signal transduction pathways including the STAT pathway, and regulates differentiation and tumorigenicity of several types of Cancer cells. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2016]

BMX 基因产物(4)

mRNA Protein Name
NM_203281.3 NP_975010.1 cytoplasmic tyrosine-protein kinase BMX isoform 1
NM_001320866.2 NP_001307795.1 cytoplasmic tyrosine-protein kinase BMX isoform 2
XM_017029752.3 XP_016885241.1 cytoplasmic tyrosine-protein kinase BMX isoform X1
NM_001721.7 NP_001712.1 cytoplasmic tyrosine-protein kinase BMX isoform 1
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 non-membrane spanning protein tyrosine kinase activity IDA
IDA: 通过直接分析推断
10688651 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
10688651 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in protein autophosphorylation IDA
IDA: 通过直接分析推断
11331870 GOA
involved in signal transduction IDA
IDA: 通过直接分析推断
10688651 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in ruffle membrane IDA
IDA: 通过直接分析推断
11331870 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

BMX 蛋白结构

PH

PH: PH domain (6 - 110)

BTK

BTK: BTK motif (119 - 148)

SH2

SH2: SH2 domain (296 - 377)

Pkinase_Tyr

Pkinase_Tyr: Protein tyrosine kinase (417 - 665)

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

cytoplasmic tyrosine-protein kinase BMX

BTK-like on X chromosome

Etk/Bmx cytosolic tyrosine kinase

NTK38 tyrosine kinase

bone marrow tyrosine kinase gene in chromosome X protein

epithelial and endothelial tyrosine kinase

关联疾病

疾病名称 别名
Wet Beriberi
Agammaglobulinemia, X-Linked

X-Linked Agammaglobulinemia

XLA

Bruton Type Agammaglobulinemia

Bruton'S Agammaglobulinemia

Bruton-Type Agammaglobulinemia

Agmx1

Imd1

Agammaglobulinemia, X-Linked 1

Btk-Deficiency

Agammaglobulinemia

Hypogammaglobulinemia

Agammaglobulinemia, X-Linked, Type 1

Immunodeficiency 1

Bruton Agammaglobulinemia Tyrosine Kinase Deficiency

Bruton'S Agammaglobulinaemia

Bruton'S Sex-Linked Agammaglobulinemia

Bruton'S Type Agammaglobulinemia

Btk Deficiency

Agammaglobulinemia, Btk

Agammaglobulinemia, Bruton Tyrosine Kinase

Congenital Agammaglobulinemia

Immunodeficiency Type 1

X-Linked Agammaglobulinemia Type 1

Integrative Agnosia
Prostate Cancer

Prostate Carcinoma

Prostate Cancer, Familial

Prostate Neoplasm

Prostate Cancer, Somatic

Prostate Cancer, Susceptibility To

Prostatic Cancer

Prostatic Neoplasms

Hereditary Prostate Cancer

Prostatic Neoplasm

Cancer Of Prostate

Carcinoma Of Prostate

Familial Prostate Cancer

Familial Prostate Carcinoma

Malignant Tumor Of Prostate

Malignant Neoplasm Of Prostate

Prostate Cancer, Familial, Susceptibility To

Malignant Tumor Of The Prostate

Ngp - New Growth Of Prostate

Tumor Of The Prostate

Prostate Cancer, Hereditary

Cancer Of The Prostate

Malignant Neoplasm Of The Prostate

Prostatic Carcinoma

PC

Prca

Cancer, Prostate

Malignant Prostatic Tumour

Malignant Tumour Of Prostate

Primary Prostate Cancer

Primary Malignant Neoplasm Of Prostate

Prostate Gland Cancer

Thiamine Deficiency Disease
Beriberi

Thiamine Deficiency

Vitamin B1 Deficiency

Aneurin Deficiency

Thiamine Vitamin Deficiency

Beriberi Nos

Beriberi Due To Vitamin B1 Deficiency

Beriberi Due To Thiamine Vitamin Deficiency

Kakkè

Cardiomyopathy, Dilated, 1gg

Dilated Cardiomyopathy 1gg

CMD1GG

Cardiomyopathy, Dilated 1gg

Cardiomyopathy, Dilated, Type 1gg

Agammaglobulinemia

Hypogammaglobulinemia

Ighm

Mu Heavy Chain Deficiency

Mu-Heavy Chain Disease

Mu-Hcd

Mu-Chain Disease

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
Rattus norvegicus BMX RGD RGD:1565643
Canis familiaris BMX VGNC VGNC:38489
Felis catus BMX VGNC VGNC:60140
Mus musculus BMX MGD MGI:1101778
Bos taurus BMX VGNC VGNC:26529
Macaca mulatta BMX VGNC VGNC:70269
Others BMX NCBI