TYROBP (transmembrane immune signaling adaptor TYROBP)

Gene Gene information from NCBI Gene database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 7305
Gene name Transmembrane immune signaling adaptor TYROBP
Gene symbol TYROBP
Synonyms (NCBI Gene)
DAP12KARAPPLOSLPLOSL1
Chromosome 19
Chromosome location 19q13.12
Summary 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.
6
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
105
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604142 12449 ENSG00000011600
Protein Protein information from UniProt database.
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
39
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 Pathogenic; Likely pathogenic rs104894732, rs386833839, rs386833840, rs386833842 RCV000006153
RCV000049807
RCV000049808
RCV000049810
Show/Hide Unknown Diseases (6)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs116987202 RCV005917416
Cervical cancer Benign rs116987202 RCV005917418
Familial cancer of breast Uncertain significance rs758290972 RCV005900682
Malignant tumor of esophagus Benign rs116987202 RCV005917417
Show/Hide Text Mining Associations (72)
Associations from Text MiningDisease 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