TYROBP (transmembrane immune signaling adaptor TYROBP)

Gene
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7305
Gene name Gene Name - the full gene name approved by the HGNC.
Transmembrane immune signaling adaptor TYROBP
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TYROBP
Synonyms (NCBI Gene) Gene synonyms aliases
DAP12, KARAP, PLOSL, PLOSL1
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.12
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a transmembrane signaling polypeptide which contains an immunoreceptor tyrosine-based activation motif (ITAM) in its cytoplasmic domain. The encoded protein may associate with the killer-cell inhibitory receptor (KIR) family of membrane
SNPs SNP information provided by dbSNP.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(6)
SNP ID Visualize variation Clinical significance Consequence
rs55746266 C>G Benign, conflicting-interpretations-of-pathogenicity Intron variant
rs104894732 A>G Pathogenic Initiator codon variant, non coding transcript variant, missense variant
rs386833839 C>T Likely-pathogenic Coding sequence variant, non coding transcript variant, missense variant
rs386833840 C>- Pathogenic-likely-pathogenic Frameshift variant, coding sequence variant, non coding transcript variant
rs386833841 C>G Likely-pathogenic Coding sequence variant, non coding transcript variant, missense variant
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(105)
GO ID Ontology Definition Evidence Reference
GO:0001818 Process Negative regulation of cytokine production IEA
GO:0002222 Process Stimulatory killer cell immunoglobulin-like receptor signaling pathway IDA 9655483
GO:0002223 Process Stimulatory C-type lectin receptor signaling pathway IDA 9655483
GO:0002228 Process Natural killer cell mediated immunity IDA 9655483
GO:0002252 Process Immune effector process IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604142 12449 ENSG00000011600
Protein
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID O43914
Protein name TYRO protein tyrosine kinase-binding protein (DNAX-activation protein 12) (Killer-activating receptor-associated protein) (KAR-associated protein)
Protein 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:10604985, PubMed:9490415, PubM
PDB 2L34 , 2L35 , 4WO1 , 4WOL , 7Q5W
Family and domains
Tissue specificity TISSUE SPECIFICITY: Expressed at low levels in the early development of the hematopoietic system and in the promonocytic stage and at high levels in mature monocytes. Expressed in hematological cells and tissues such as peripheral blood leukocytes and spl
Sequence 
MGGLEPCSRLLLLPLLLAVSGLRPVQAQAQSDCSCSTVSPGVLAGIVMGDLVLTVLIALA
VYFLGRLVPRGRGAAEAATRKQRITETESPYQELQGQRSDVYSDLNTQRPYYK
Sequence length 113
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Osteoclast differentiation
Natural killer cell mediated cytotoxicity 		  Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
DAP12 interactions
DAP12 signaling
Signal regulatory protein family interactions
Other semaphorin interactions
Neutrophil degranulation
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs 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
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 rs104894732, rs386833839, rs386833840, rs386833842 N/A
Show/Hide Text Mining Associations (72)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 32509861, 38250763
Alzheimer Disease Associate 27556418, 27658901, 34188106, 40301889
Aneurysm Ruptured Stimulate 32589050
Aortic Aneurysm Abdominal Associate 25993291, 34814367, 38181271
Arthritis Rheumatoid Associate 23146195, 24465901, 25642940
Atherosclerosis Associate 34925641
Atrial Fibrillation Stimulate 35607269
Atrial Fibrillation Associate 36653368
Autoimmune Diseases Associate 19075187
Bipolar Disorder Associate 25487697