MCID: BCL001
MIFTS: 32

B Cell Linker Protein Deficiency

Categories: Immune diseases

Aliases & Classifications for B Cell Linker Protein Deficiency

MalaCards integrated aliases for B Cell Linker Protein Deficiency:

Name: B Cell Linker Protein Deficiency 12 15
B-Cell Linker Protein Deficiency 12
B-Cell Linker Protein 13
Blnk Deficiency 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060027

Summaries for B Cell Linker Protein Deficiency

Disease Ontology : 12 A hypobammaglobulinemia that is a B cell deficiency that has material basis in a mutation in a cytoplasmic linker or adaptor protein that plays a critical role in B cell development, the B cell linker protein (BLNK) gene. Mutations in this gene cause hypoglobulinemia and absent B cells, a disease in which the pro- to pre-B-cell transition is developmentally blocked. The BLNK gene is associated with intracellular calcium mobilization, essential for cell activation.

MalaCards based summary : B Cell Linker Protein Deficiency, also known as b-cell linker protein deficiency, is related to interleukin-7 receptor alpha deficiency and severe combined immunodeficiency, x-linked. An important gene associated with B Cell Linker Protein Deficiency is BLNK (B Cell Linker), and among its related pathways/superpathways are Innate Immune System and GPCR Pathway. Affiliated tissues include b cells, bone and t cells, and related phenotypes are cellular and endocrine/exocrine gland

Related Diseases for B Cell Linker Protein Deficiency

Graphical network of the top 20 diseases related to B Cell Linker Protein Deficiency:



Diseases related to B Cell Linker Protein Deficiency

Symptoms & Phenotypes for B Cell Linker Protein Deficiency

MGI Mouse Phenotypes related to B Cell Linker Protein Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.73 BLNK JAK3 LCP2 STAT5A STAT5B SYK
2 endocrine/exocrine gland MP:0005379 9.63 IL7 JAK3 LCP2 STAT5A STAT5B SYK
3 hematopoietic system MP:0005397 9.56 BLNK CD5 IL7 JAK3 LCP2 STAT5A
4 immune system MP:0005387 9.23 BLNK CD5 IL7 JAK3 LCP2 STAT5A

Drugs & Therapeutics for B Cell Linker Protein Deficiency

Search Clinical Trials , NIH Clinical Center for B Cell Linker Protein Deficiency

Genetic Tests for B Cell Linker Protein Deficiency

Anatomical Context for B Cell Linker Protein Deficiency

MalaCards organs/tissues related to B Cell Linker Protein Deficiency:

41
B Cells, Bone, T Cells, Bone Marrow

Publications for B Cell Linker Protein Deficiency

Articles related to B Cell Linker Protein Deficiency:

# Title Authors Year
1
B Cell Linker Protein (BLNK) Is a Selective Target of Repression by PAX5-PML Protein in the Differentiation Block That Leads to the Development of Acute Lymphoblastic Leukemia. ( 26703467 )
2016
2
B-cell linker protein prevents aneuploidy by inhibiting cytokinesis. ( 19018766 )
2008
3
Receptor-facilitated antigen presentation requires the recruitment of B cell linker protein to Igalpha. ( 11859098 )
2002
4
Delayed cellular maturation and decreased immunoglobulin kappa light chain production in immature B lymphocytes lacking B cell linker protein. ( 12119344 )
2002
5
Hematopoietic progenitor kinase 1 associates physically and functionally with the adaptor proteins B cell linker protein and SLP-76 in lymphocytes. ( 11487585 )
2001
6
Src homology region 2 (SH2) domain-containing phosphatase-1 dephosphorylates B cell linker protein/SH2 domain leukocyte protein of 65 kDa and selectively regulates c-Jun NH2-terminal kinase activation in B cells. ( 10903736 )
2000
7
Cbl suppresses B cell receptor-mediated phospholipase C (PLC)-gamma2 activation by regulating B cell linker protein-PLC-gamma2 binding. ( 10684856 )
2000

Variations for B Cell Linker Protein Deficiency

Expression for B Cell Linker Protein Deficiency

Search GEO for disease gene expression data for B Cell Linker Protein Deficiency.

Pathways for B Cell Linker Protein Deficiency

Pathways related to B Cell Linker Protein Deficiency according to GeneCards Suite gene sharing:

(show all 48)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.76 BLNK IL7 JAK3 LCP2 STAT5A STAT5B
2
Show member pathways
13.48 BLNK JAK3 LCP2 STAT5A STAT5B SYK
3
Show member pathways
13.13 IL7 JAK3 LCP2 STAT5A STAT5B SYK
4
Show member pathways
13.06 BLNK IL7 JAK3 STAT5A STAT5B SYK
5
Show member pathways
12.96 BLNK JAK3 STAT5A STAT5B SYK
6
Show member pathways
12.67 JAK3 LCP2 STAT5A STAT5B SYK
7 12.63 IL7 JAK3 STAT5A STAT5B
8
Show member pathways
12.58 IL7 JAK3 STAT5A STAT5B
9
Show member pathways
12.43 BLNK LCP2 SYK
10
Show member pathways
12.41 JAK3 STAT5A STAT5B
11
Show member pathways
12.4 BLNK LCP2 SYK
12 12.25 JAK3 STAT5A STAT5B
13
Show member pathways
12.22 JAK3 STAT5A STAT5B
14
Show member pathways
12.21 IL7 JAK3 STAT5A STAT5B
15
Show member pathways
12.16 JAK3 STAT5A STAT5B
16 12.13 BLNK JAK3 SYK
17
Show member pathways
12.06 JAK3 STAT5A STAT5B
18 12.06 JAK3 STAT5A STAT5B SYK
19
Show member pathways
12.01 STAT5A STAT5B SYK
20
Show member pathways
11.97 JAK3 LCP2 SYK
21 11.95 BLNK JAK3 LCP2 STAT5A STAT5B SYK
22
Show member pathways
11.88 JAK3 STAT5A STAT5B
23 11.87 BLNK LCP2 SYK
24
Show member pathways
11.8 JAK3 STAT5A STAT5B SYK
25
Show member pathways
11.76 BLNK LCP2 SYK
26 11.69 JAK3 STAT5A STAT5B
27
Show member pathways
11.65 JAK3 STAT5A STAT5B SYK
28 11.55 LCP2 SYK
29
Show member pathways
11.54 JAK3 STAT5A STAT5B
30 11.52 STAT5A STAT5B
31 11.5 JAK3 STAT5A STAT5B
32 11.42 STAT5A STAT5B
33 11.39 STAT5A STAT5B
34 11.36 STAT5A STAT5B
35 11.34 JAK3 STAT5A
36 11.29 STAT5A STAT5B
37
Show member pathways
11.29 STAT5A STAT5B
38
Show member pathways
11.26 STAT5A STAT5B
39 11.24 BLNK JAK3
40
Show member pathways
11.23 JAK3 STAT5A STAT5B
41 11.18 JAK3 STAT5A STAT5B
42 11.14 JAK3 STAT5A
43
Show member pathways
11.12 STAT5A STAT5B
44
Show member pathways
11.12 IL7 JAK3 STAT5A STAT5B
45 10.92 STAT5A STAT5B
46 10.88 BLNK SYK
47
Show member pathways
10.88 JAK3 STAT5A STAT5B SYK
48 10.37 IL7 JAK3 STAT5A STAT5B

GO Terms for B Cell Linker Protein Deficiency

Biological processes related to B Cell Linker Protein Deficiency according to GeneCards Suite gene sharing:

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 intracellular signal transduction GO:0035556 9.91 BLNK JAK3 LCP2 SYK
2 cytokine-mediated signaling pathway GO:0019221 9.85 IL7 JAK3 STAT5A STAT5B
3 peptidyl-tyrosine phosphorylation GO:0018108 9.67 JAK3 STAT5A STAT5B SYK
4 humoral immune response GO:0006959 9.64 BLNK IL7
5 lactation GO:0007595 9.64 STAT5A STAT5B
6 regulation of multicellular organism growth GO:0040014 9.63 STAT5A STAT5B
7 T cell homeostasis GO:0043029 9.63 JAK3 STAT5B
8 JAK-STAT cascade GO:0007259 9.62 STAT5A STAT5B
9 2-oxoglutarate metabolic process GO:0006103 9.62 STAT5A STAT5B
10 positive regulation of B cell differentiation GO:0045579 9.61 STAT5B SYK
11 creatine metabolic process GO:0006600 9.6 STAT5A STAT5B
12 oxaloacetate metabolic process GO:0006107 9.59 STAT5A STAT5B
13 succinate metabolic process GO:0006105 9.58 STAT5A STAT5B
14 citrate metabolic process GO:0006101 9.58 STAT5A STAT5B
15 enzyme linked receptor protein signaling pathway GO:0007167 9.57 JAK3 SYK
16 response to interleukin-4 GO:0070670 9.56 JAK3 STAT5B
17 taurine metabolic process GO:0019530 9.54 STAT5A STAT5B
18 valine metabolic process GO:0006573 9.52 STAT5A STAT5B
19 creatinine metabolic process GO:0046449 9.51 STAT5A STAT5B
20 interleukin-15-mediated signaling pathway GO:0035723 9.5 JAK3 STAT5A STAT5B
21 isoleucine metabolic process GO:0006549 9.49 STAT5A STAT5B
22 positive regulation of gamma-delta T cell differentiation GO:0045588 9.48 STAT5B SYK
23 allantoin metabolic process GO:0000255 9.46 STAT5A STAT5B
24 response to interleukin-15 GO:0070672 9.43 JAK3 STAT5B
25 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 9.43 JAK3 STAT5A STAT5B
26 response to interleukin-2 GO:0070669 9.4 JAK3 STAT5B
27 interleukin-9-mediated signaling pathway GO:0038113 9.33 JAK3 STAT5A STAT5B
28 interleukin-7-mediated signaling pathway GO:0038111 9.26 IL7 JAK3 STAT5A STAT5B
29 interleukin-2-mediated signaling pathway GO:0038110 8.92 JAK3 STAT5A STAT5B SYK

Molecular functions related to B Cell Linker Protein Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 non-membrane spanning protein tyrosine kinase activity GO:0004715 8.96 JAK3 SYK
2 protein tyrosine kinase activity GO:0004713 8.92 JAK3 STAT5A STAT5B SYK

Sources for B Cell Linker Protein Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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