BLNK - B cell linker Gene

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

BLNK Protein Structure

SH2

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 (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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01522	BLNK Human Pre-designed siRNA Set A		/	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