Seroatlas · Human Serome Atlas

BLNK

B-cell linker protein

Also known as: BASH, bca, BLNK_HUMAN, BLNK-s, Ly57, SLP-65, SLP65

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q8WV28
Gene: BLNK
Ensembl: ENSG00000095585
Chromosome: 10
Canonical length: 456 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Vesicles,Plasma membrane

OverviewNCBI 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 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]

Canonical amino-acid sequenceUniProt

456 residues, UniProt reviewed canonical sequence.

>Q8WV28|BLNK
     1  MDKLNKITVP ASQKLRQLQK MVHDIKNNEG GIMNKIKKLK VKAPPSVPRR DYASESPADE
    61  EEQWSDDFDS DYENPDEHSD SEMYVMPAEE NADDSYEPPP VEQETRPVHP ALPFARGEYI
   121  DNRSSQRHSP PFSKTLPSKP SWPSEKARLT STLPALTALQ KPQVPPKPKG LLEDEADYVV
   181  PVEDNDENYI HPTESSSPPP EKAPMVNRST KPNSSTPASP PGTASGRNSG AWETKSPPPA
   241  APSPLPRAGK KPTTPLKTTP VASQQNASSV CEEKPIPAER HRGSSHRQEA VQSPVFPPAQ
   301  KQIHQKPIPL PRFTEGGNPT VDGPLPSFSS NSTISEQEAG VLCKPWYAGA CDRKSAEEAL
   361  HRSNKDGSFL IRKSSGHDSK QPYTLVVFFN KRVYNIPVRF IEATKQYALG RKKNGEEYFG
   421  SVAEIIRNHQ HSPLVLIDSQ NNTKDSTRLK YAVKVS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against BLNK can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Cell surface
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.6
Highest tissue expression: 53 nTPM

Expression across tissuesHPA

Tissue

spleen: 53 nTPM
tonsil: 42 nTPM
esophagus: 39 nTPM
liver: 38 nTPM
lymph node: 33 nTPM
small intestine: 26 nTPM

Single-cell type

microglia: 703 nCPM
esophageal apical cells: 671 nCPM
pdcs: 330 nCPM
distal convoluted tubule cells: 302 nCPM
renal connecting tubule cells: 261 nCPM
ocular epithelial cells: 249 nCPM

Immune cell

plasmacytoid DC: 159 nTPM
memory B-cell: 111 nTPM
naive B-cell: 95 nTPM
myeloid DC: 13 nTPM
total PBMC: 5.5 nTPM
NK-cell: 1.6 nTPM

Brain region

choroid plexus: 34 nTPM
thalamus: 21 nTPM
hypothalamus: 21 nTPM
medulla oblongata: 21 nTPM
white matter: 21 nTPM
pons: 20 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about BLNK.

Disease | AllUniProt

Conditions BLNK is implicated in, by any mechanism.

Agammaglobulinemia 4, autosomal recessive (AGM4) MIM:613502

Disease | GeneticClinVar

16 pathogenic / likely-pathogenic of 409 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Agammaglobulinemia 4, autosomal recessive
BLNK-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.39
gnomAD pLI: 0.61
gnomAD missense Z: 1.5
DepMap mean gene effect: 0.02
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of BLNK in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads BLNK as an antibody target. Whether an autoantibody or antibody against BLNK could matter depends on whether native BLNK is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

BLNK is annotated at the cell surface, where native BLNK is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label BLNK as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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