• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
BLNK (HGNC:14211) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
B cell linker
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
SLP65, Ly57, SLP-65, BLNK-s, BASH, bca
%HI
35.7(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.61(Read more about gnomAD pLI score)
LOEUF
0.39(Read more about gnomAD LOEUF score)
Cytoband
10q24.1
Genomic Coordinates
GRCh37/hg19: chr10:97948927-98031326 NCBI Ensembl UCSC
GRCh38/hg38: chr10:96189171-96271569 NCBI Ensembl UCSC
MANE Select Transcript
NM_013314.4 ENST00000224337.10 (Read more about MANE Select)
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 ERK/EPHB2, MAP kinase p38 and JNK. Modulates AP1 activation. Important for the activation of NF-kappa-B and NFAT. Plays an important role in BCR- mediated PLCG1 and PLCG2 activation and Ca(2+) mobilization and is required for trafficking of the BCR to l... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-27670
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • agammaglobulinemia 4, autosomal recessive Monarch

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000010.10) (NC_000010.11)