2. Gene
  3. BLNK - B cell linker Gene

BLNK - B cell linker Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens

Also known as bca; AGM4; BASH; LY57; SLP65; BLNK-S; SLP-65

Gene ID: 29760 | Gene type: protein coding

About 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.

Summary

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 Products(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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables SH2 domain binding IDA
IDA: Inferred from direct assay
9697839 GOA
enables enzyme binding IPI
IPI: Inferred from physical interaction
9697839 GOA
enables lipid binding IDA
IDA: Inferred from direct assay
32051419 GOA
enables lipid binding IMP
IMP: Inferred from mutant phenotype
25140054 GOA
enables molecular condensate scaffold activity IMP
IMP: Inferred from mutant phenotype
32051419 GOA
enables phospholipase binding IPI
IPI: Inferred from physical interaction
11606584 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
9697839 GOA
enables protein kinase binding IPI
IPI: Inferred from physical interaction
11606584 GOA
enables protein tyrosine kinase binding IPI
IPI: Inferred from physical interaction
9697839 GOA
enables signaling adaptor activity IDA
IDA: Inferred from direct assay
9697839 GOA
Biological Process GO Annotation Evidence Reference Source
involved in B cell receptor signaling pathway IDA
IDA: Inferred from direct assay
9697839 GOA
involved in B cell receptor signaling pathway IMP
IMP: Inferred from mutant phenotype
11606584 GOA
involved in intracellular signal transduction IDA
IDA: Inferred from direct assay
9341187 GOA
Cellular Component GO Annotation Evidence Reference Source
located in cytosol IDA
IDA: Inferred from direct assay
9697839 GOA
located in membrane IDA
IDA: Inferred from direct assay
9697839 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BLNK Protein Structure

SH2

SH2: SH2 domain (346 - 428)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 456 a.a.
Protein Preferred Names Protein Names

B-cell linker protein

B cell adaptor containing SH2 domain

Recombinant BLNK Proteins

Cat. No. Product Name Accession Purity
HY-P7667 BLNK Protein, Human (His) AAH18906 (M1-S456 ) ≥95%
HY-P75474 BLNK Protein, Human (HEK293, His) Q8WV28-1 (M1-S456) ≥95%

Related Diseases

Diseases Alias
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
Diseases Alias
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

Related Agents

Pre-clinical Phase
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS01522 BLNK Human Pre-designed siRNA Set A Pre-designed Sets / Unkown

Orthologs Information

Species Symbol Source 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