BLNK B cell linker
Gene ID: 29760, updated on 13-Apr-2024Gene type: protein coding
Also known as: bca; AGM4; BASH; LY57; SLP65; BLNK-S; SLP-65
- See all available tests in GTR for this gene
- Go to complete Gene record for BLNK
- Go to Variation Viewer for BLNK variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Agammaglobulinemia 4, autosomal recessive | See labs |
Genomic context
- Location:
- 10q24.1
- Sequence:
- Chromosome: 10; NC_000010.11 (96189171..96271569, complement)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for BLNK variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- BLNK database
- BLNKbase: Mutation registry for BLNK deficiency
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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