BLNK (B cell linker)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 29760
Gene name B cell linker
Gene symbol BLNK
Synonyms (NCBI Gene)
AGM4BASHBLNK-SLY57SLP-65SLP65bca
Chromosome 10
Chromosome location 10q24.1
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 function
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs1554906579 C>- Pathogenic Non coding transcript variant, splice acceptor variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
16
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (16)
miRTarBase ID miRNA Experiments Reference
MIRT029539 hsa-miR-26b-5p Microarray 19088304
MIRT821970 hsa-miR-1302 CLIP-seq
MIRT821971 hsa-miR-3122 CLIP-seq
MIRT821972 hsa-miR-3199 CLIP-seq
MIRT821973 hsa-miR-371-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
30
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (30)
GO ID Ontology Definition Evidence Reference
GO:0005068 Function Transmembrane receptor protein tyrosine kinase adaptor activity TAS 9697839
GO:0005515 Function Protein binding IPI 9697839, 16912232, 16969585, 21822214, 21930792, 24728074
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol IDA 9697839
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604515 14211 ENSG00000095585
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WV28
Protein name B-cell linker protein (B-cell adapter containing a SH2 domain protein) (B-cell adapter containing a Src homology 2 domain protein) (Cytoplasmic adapter protein) (Src homology 2 domain-containing leukocyte protein of 65 kDa) (SLP-65)
Protein function Functions as a central linker protein, downstream of the B-cell receptor (BCR), bridging the SYK kinase to a multitude of signaling pathways and regulating biological outcomes of B-cell function and development. Plays a role in the activation of
PDB 6YLU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00017 SH2 346 → 429 SH2 domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in B-cell lineage and fibroblast cell lines (at protein level). Highest levels of expression in the spleen, with lower levels in the liver, kidney, pancreas, small intestines and colon.
Sequence 
MDKLNKITVPASQKLRQLQKMVHDIKNNEGGIMNKIKKLKVKAPPSVPRRDYASESPADE
EEQWSDDFDSDYENPDEHSDSEMYVMPAEENADDSYEPPPVEQETRPVHPALPFARGEYI
DNRSSQRHSPPFSKTLPSKPSWPSEKARLTSTLPALTALQKPQVPPKPKGLLEDEADYVV
PVEDNDENYIHPTESSSPPPEKAPMVNRSTKPNSSTPASPPGTASGRNSGAWETKSPPPA
APSPLPRAGKKPTTPLKTTPVASQQNASSVCEEKPIPAERHRGSSHRQEAVQSPVFPPAQ
KQIHQKPIPLPRFTEGGNPTVDGPLPSFSSNSTISEQEAGVLCKPWYAGACDRKSAEEAL
HRSNKDGSFLIRKSSGHDSKQPYTLVVFFNKRVYNIPVRFIEATKQYALGRKKNGEEYFG
SVAEIIRNHQHSPLVLIDSQNNTKDSTRLKYAVKVS
Sequence length 456
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  NF-kappa B signaling pathway
Osteoclast differentiation
B cell receptor signaling pathway
Epstein-Barr virus infection
Primary immunodeficiency 		  Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
303
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Agammaglobulinemia 4, autosomal recessive Pathogenic; Likely pathogenic rs1554894837, rs2133946382, rs2134092983, rs2134166251, rs2493183249, rs2492841066, rs1842918742, rs1554906579, rs2083906060 RCV001385592
RCV001388635
RCV002033287
RCV000005842
RCV003020917
RCV003614861
RCV003990685
RCV000648342
RCV001253462
BLNK-related disorder Likely pathogenic rs2492954169 RCV003404229
Show/Hide Unknown Diseases (8)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign; Likely benign rs148612299 RCV005891033
Gastric cancer Benign; Likely benign rs148612299 RCV005891034
Hepatocellular carcinoma Benign; Likely benign rs148612299 RCV005891032
Lung cancer Benign; Likely benign rs148612299 RCV005891037
Show/Hide Text Mining Associations (27)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Agammaglobulinemia Associate 30619340
Alzheimer Disease Associate 40050982
Aneuploidy Inhibit 19018766
Aortic Aneurysm Abdominal Associate 22797469
Breast Neoplasms Associate 32841536
COVID 19 Associate 33578018
Dermatitis Atopic Associate 26817661
Hodgkin Disease Associate 12881301, 28791394
Hyper IgM Immunodeficiency Syndrome Associate 30619340
Hypoxia Associate 32099002