BLNK - B cell linker Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 29760

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 References 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 References 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 References 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

BLNK Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
BLNK Q8WV28 KIT Homo sapiens P10721
FPS
24728074
Intra
BLNK Q8WV28 CD2AP Homo sapiens Q9Y5K6
Anti Bait CoIP
21822214
Intra
BLNK Q8WV28 GRB2 Homo sapiens P62993
Pull Down
16912232
Intra
BLNK Q8WV28 GRB2 Homo sapiens P62993
ITC
16912232
Intra
BLNK Q8WV28 GRB2 Homo sapiens P62993
Pull Down
10556826
Intra
BLNK Q8WV28 GRB2 Homo sapiens P62993
Anti Bait CoIP
21822214
Intra
BLNK Q8WV28 AR Homo sapiens P10275
FPS
24728074
Intra
BLNK Q8WV28 BTK Homo sapiens Q06187
Far-WB
10556826
Intra
BLNK Q8WV28 BTK Homo sapiens Q06187
Pull Down
10556826
Cross
BLNK Q8WV28 q5zmq7_chick Gallus gallus Q5ZMQ7
Pull Down
21822214
Cross
BLNK Q8WV28 q5zmq7_chick Gallus gallus Q5ZMQ7
Anti Tag CoIP
21822214
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant BLNK Proteins

Cat. No. Product Name Accession Purity
HY-P7667 BLNK Protein, Human (His) AAH18906 (M1-S456) ≥ 90%, as determined by reducing SDS-PAGE.
HY-P75474 BLNK Protein, Human (HEK293, His) Q8WV28-1 (M1-S456) ≥ 90%, as determined by reducing SDS-PAGE.

BLNK Antibodies

Cat. No. Product Name Application Reactivity
HY-P82537 BLNK Antibody (YA2282) WB, IP Human, Mouse, Rat
HY-P82537A BLNK Antibody (YA2282)(PBS only) WB, IP Human, Mouse, Rat
HY-P84689 BLNK Antibody (YA4386) WB, IHC-P, ICC/IF, FC, ELISA Human, Mouse, Rat, , Monkey
HY-P84689A BLNK Antibody (YA4386)(PBS only) WB, IHC-P, ICC/IF, FC, ELISA Human, Mouse, Rat, , Monkey

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

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS01522 BLNK Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS21300 Blnk Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS27819 Blnk Rat Pre-designed siRNA Set A Pre-designed Set / 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