BLNK |
- 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)