2. Gene
  3. BLNK - B cell linker Gene

BLNK - B cell linker Gene

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

中文名称：B 细胞接头

种属: Homo sapiens

同用名: bca; AGM4; BASH; LY57; SLP65; BLNK-S; SLP-65

基因 ID: 29760 | 基因类型: protein coding

关于 BLNK

Cytogenetic location: 10q24.1 Genomic coordinates (GRCh38): 10:96,189,171-96,271,569 (from NCBI)

This gene has 25 transcripts (splice variants), 197 orthologues, 3 paralogues and is associated with 2 phenotypes. Broad expression in spleen (RPKM 11.8), lymph node (RPKM 11.8) and 20 other tissues.

功能概要

该基因编码在 B 细胞发育中起关键作用的细胞质接头或衔接蛋白。这种蛋白质将 B 细胞受体相关激酶激活与下游信号通路联系起来，从而影响各种生物学功能。五个酪氨酸残基的磷酸化是该蛋白在 B 细胞受体激活后形成不同信号效应子所必需的。该基因的突变会导致低球蛋白血症和 B 细胞缺失，这是一种前 B 细胞向前 B 细胞的转变在发育过程中受阻的疾病。在一些前 B 型急性淋巴细胞白血病病例中也显示出这种蛋白质的缺乏。已发现该基因的可变剪接转录物变体。[RefSeq 提供，2012 年 5 月]

This gene encodes a cytoplasmic linker or adaptor protein that plays a critical role in B cell development. This protein bridges B cell receptor-associated kinase activation with downstream signaling pathways, thereby affecting various biological functions. The phosphorylation of five tyrosine residues is necessary for this protein to nucleate distinct signaling effectors following B cell receptor activation. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. Deficiency in this protein has also been shown in some cases of pre-B acute lymphoblastic leukemia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]

BLNK 基因产物(5)

mRNA Protein Name
NM_001114094.2 NP_001107566.1 B-cell linker protein isoform 2
NM_001258440.2 NP_001245369.1 B-cell linker protein isoform 3
NM_001258441.2 NP_001245370.1 B-cell linker protein isoform 4
NM_001258442.2 NP_001245371.1 B-cell linker protein isoform 5
NM_013314.4 NP_037446.1 B-cell linker protein 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 SH2 domain binding IDA
IDA: 通过直接分析推断
9697839 GOA
enables enzyme binding IPI
IPI: 通过物理相互作用推断
9697839 GOA
enables lipid binding IDA
IDA: 通过直接分析推断
32051419 GOA
enables lipid binding IMP
IMP: 通过突变表型推断
25140054 GOA
enables molecular condensate scaffold activity IMP
IMP: 通过突变表型推断
32051419 GOA
enables phospholipase binding IPI
IPI: 通过物理相互作用推断
11606584 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
9697839 GOA
enables protein kinase binding IPI
IPI: 通过物理相互作用推断
11606584 GOA
enables protein tyrosine kinase binding IPI
IPI: 通过物理相互作用推断
9697839 GOA
enables signaling adaptor activity IDA
IDA: 通过直接分析推断
9697839 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in B cell receptor signaling pathway IDA
IDA: 通过直接分析推断
9697839 GOA
involved in B cell receptor signaling pathway IMP
IMP: 通过突变表型推断
11606584 GOA
involved in intracellular signal transduction IDA
IDA: 通过直接分析推断
9341187 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytosol IDA
IDA: 通过直接分析推断
9697839 GOA
located in membrane IDA
IDA: 通过直接分析推断
9697839 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

BLNK 蛋白结构

SH2

SH2: SH2 domain (346 - 428)

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

B-cell linker protein

B cell adaptor containing SH2 domain

重组 BLNK 蛋白

目录号 产品名 蛋白编号 纯度
HY-P7667 BLNK Protein, Human (His) AAH18906 (M1-S456 ) ≥95%
HY-P75474 BLNK Protein, Human (HEK293, His) Q8WV28-1 (M1-S456) ≥95%

关联疾病

疾病名称 别名
Agammaglobulinemia 4, Autosomal Recessive

Agammaglobulinemia 4

AGM4

Agammaglobulinemia, Autosomal Recessive, Due To Blnk Defect

B Cell Linker Protein Deficiency

B-Cell Linker Protein Deficiency

Blnk Deficiency

Agammaglobulinemia Autosomal Recessive Due To Blnk Defect

Agammaglobulinemia, Type 4, Autosomal Recessive
Agammaglobulinemia, Non-Bruton Type

Autosomal Agammaglobulinemia
Agammaglobulinemia

Hypogammaglobulinemia

Ighm

Mu Heavy Chain Deficiency

Mu-Heavy Chain Disease

Mu-Hcd

Mu-Chain Disease
Congenital Hypogammaglobulinemia

Congenital Hypogammaglobulinaemia
Lambda 5 Deficiency
Macroglobulinemia

Primary Macroglobulinemia

Waldenstrom Macroglobulinemia
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 Disease

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
Congenital Bile Acid Synthesis Defect

3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency

Cba

Cholestasis With Delta(4)-3-Oxosteroid-5-Beta-Reductase Deficiency

Basd

Bile Acid Synthesis Defect, Congenital, 1
Leukemia, Acute Lymphoblastic

Acute Lymphoblastic Leukemia

ALL

Acute Lymphocytic Leukemia

Leukemia, Acute Lymphocytic, Susceptibility To, 1

Acute Lymphoblastic Leukaemia

Precursor Lymphoblastic Lymphoma/Leukemia

Precursor Lymphoid Neoplasm

Leukemia, Acute Lymphoblastic, Susceptibility To

B-Cell Acute Lymphoblastic Leukemia

Leukemia, Acute Lymphocytic 1

Acute Lymphocytic Leukaemia

Acute Lymphoblastic Leukemia/Lymphoma

All1

Childhood Acute Lymphoblastic Leukemia

Leukemia Acute Lymphoblastic 1

Leukemia Acute Lymphoblastic B-Hyperdiploid

Leukemia Acute Lymphocytic

Leukemia Acute Lymphocytic 1

Leukemia B-Cell Acute Lymphoblastic

Leukemia T-Cell Acute Lymphoblastic

Leukemia, Acute Lymphoblastic, 3

ALL3

Lymphoblastic Leukemia Acute

Leukemia, Acute, Lymphoblastic

Precursor Cell Lymphoblastic Leukemia Lymphoma

Leukemia, Lymphocytic, Acute, L1

Leukemia, Acute Lymphoblastic, Susceptibility To, 3
B Cell Deficiency

Immunoglobulin Heavy Chain Deficiency

B Cell Deficiencies

Immunoglobulin Heavy Chain Deletion

Humoral Immune Defect
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-RS01522 BLNK Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris BLNK VGNC VGNC:38466
Bos taurus BLNK VGNC VGNC:26506
Felis catus BLNK VGNC VGNC:60124
Macaca mulatta BLNK VGNC VGNC:70306
Mus musculus BLNK MGD MGI:96878
Rattus norvegicus BLNK RGD RGD:1561933
Others BLNK NCBI
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