TYROBP
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
TYROBP (HGNC:12449) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
transmembrane immune signaling adaptor TYROBP
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
PLOSL
Alias symbols
DAP12, PLO-SL, KARAP
%HI
59.61(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.28(Read more about gnomAD LOEUF score)
Cytoband
19q13.12
Genomic Coordinates
GRCh37/hg19: chr19:36395305-36399197 NCBI Ensembl UCSC
GRCh38/hg38: chr19:35904403-35908295 NCBI Ensembl UCSC
MANE Select Transcript
NM_003332.4 ENST00000262629.9 (Read more about MANE Select)
Function
Adapter protein which non-covalently associates with activating receptors found on the surface of a variety of immune cells to mediate signaling and cell activation following ligand binding by the receptors (PubMed:9490415, PubMed:9655483, PubMed:10604985). TYROBP is tyrosine-phosphorylated in the ITAM domain following ligand binding by the associated receptors which leads to activation of additional tyrosine kinases and subsequent cell activation (PubMed:9490415). Also has an inhibitory role in... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-25685
ClinGen Curation ID:
CCID:008073
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 Monarch

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000019.9) (NC_000019.10)