BLNK Chromosome 10
B cell linker
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What This Gene Does
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]
Gene Info
Gene Group
SH2 domain containing
Locus Type
gene with protein product
Location
10q24.1
Ensembl
ENSG00000095585
Associated Conditions (4)
Agammaglobulinemia 4
autosomal recessive
Inborn genetic diseases
BLNK-related disorder
Key Variants
RS144266674
Conflicting classifications of pathogenicity
Agammaglobulinemia 4, autosomal recessive, Agammaglobulinemia 4
Health Risk
RS144826995
Conflicting classifications of pathogenicity
Agammaglobulinemia 4, autosomal recessive, Inborn genetic diseases
Health Risk
RS199854336
Conflicting classifications of pathogenicity
Agammaglobulinemia 4, autosomal recessive, Agammaglobulinemia 4
Health Risk
RS201874889
Conflicting classifications of pathogenicity
Agammaglobulinemia 4, autosomal recessive, Inborn genetic diseases
Health Risk
RS34135972
Conflicting classifications of pathogenicity
Agammaglobulinemia 4, autosomal recessive, Agammaglobulinemia 4
Health Risk
RS1842918742
Likely pathogenic
Agammaglobulinemia 4, autosomal recessive, Agammaglobulinemia 4
Health Risk
RS2083906060
Likely pathogenic
Agammaglobulinemia 4, autosomal recessive, Agammaglobulinemia 4
Health Risk
RS2134092983
Likely pathogenic
Agammaglobulinemia 4, autosomal recessive, Agammaglobulinemia 4
Health Risk
RS2492841066
Likely pathogenic
Agammaglobulinemia 4, autosomal recessive, Agammaglobulinemia 4
Health Risk
RS2492954169
Likely pathogenic
BLNK-related disorder, BLNK-related disorder
Health Risk
RS1554894837
Pathogenic
Agammaglobulinemia 4, autosomal recessive, Agammaglobulinemia 4
Health Risk
RS1554906579
Pathogenic
Agammaglobulinemia 4, autosomal recessive, Agammaglobulinemia 4
Health Risk
All Variants (15)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144266674 | Health Risk | Conflicting classifications of pathogenicity | Agammaglobulinemia 4, autosomal recessive, Agammaglobulinemia 4 |
| RS144826995 | Health Risk | Conflicting classifications of pathogenicity | Agammaglobulinemia 4, autosomal recessive, Inborn genetic diseases |
| RS199854336 | Health Risk | Conflicting classifications of pathogenicity | Agammaglobulinemia 4, autosomal recessive, Agammaglobulinemia 4 |
| RS201874889 | Health Risk | Conflicting classifications of pathogenicity | Agammaglobulinemia 4, autosomal recessive, Inborn genetic diseases |
| RS34135972 | Health Risk | Conflicting classifications of pathogenicity | Agammaglobulinemia 4, autosomal recessive, Agammaglobulinemia 4 |
| RS1842918742 | Health Risk | Likely pathogenic | Agammaglobulinemia 4, autosomal recessive, Agammaglobulinemia 4 |
| RS2083906060 | Health Risk | Likely pathogenic | Agammaglobulinemia 4, autosomal recessive, Agammaglobulinemia 4 |
| RS2134092983 | Health Risk | Likely pathogenic | Agammaglobulinemia 4, autosomal recessive, Agammaglobulinemia 4 |
| RS2492841066 | Health Risk | Likely pathogenic | Agammaglobulinemia 4, autosomal recessive, Agammaglobulinemia 4 |
| RS2492954169 | Health Risk | Likely pathogenic | BLNK-related disorder, BLNK-related disorder |
| RS1554894837 | Health Risk | Pathogenic | Agammaglobulinemia 4, autosomal recessive, Agammaglobulinemia 4 |
| RS1554906579 | Health Risk | Pathogenic | Agammaglobulinemia 4, autosomal recessive, Agammaglobulinemia 4 |
| RS2133946382 | Health Risk | Pathogenic | Agammaglobulinemia 4, autosomal recessive, Agammaglobulinemia 4 |
| RS2134166251 | Health Risk | Pathogenic | Agammaglobulinemia 4, autosomal recessive, Agammaglobulinemia 4 |
| RS2493183249 | Health Risk | Pathogenic | Agammaglobulinemia 4, autosomal recessive, Agammaglobulinemia 4 |