BLNK (B cell linker)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
29760
Gene name Gene Name - the full gene name approved by the HGNC.
B cell linker
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BLNK
Synonyms (NCBI Gene) Gene synonyms aliases
AGM4, BASH, BLNK-S, LY57, SLP-65, SLP65, bca
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q24.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604515 14211 ENSG00000095585
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Agammaglobulinemia agammaglobulinemia 4, autosomal recessive rs2134166251, rs1554906579 N/A
Show/Hide Text Mining Associations (27)
Associations from Text Mining Disease 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