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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
19
Gene SNPs Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 Pathogenic; Likely pathogenic rs104894732, rs386833839, rs386833840, rs386833842 RCV000006153
RCV000049807
RCV000049808
RCV000049810
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (18)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CAUDATE ATROPHY — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBELLAR ATROPHY — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CEREBRAL CORTICAL ATROPHY — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (119)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Agnosia Agnosia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 27556418, 27658901, 34188106, 40301889 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Early Onset Alzheimer disease BEFREE 27658901
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease, Late Onset Alzheimer disease BEFREE 23622250, 30283032
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 28070672, 28612290, 29518356, 30283032, 30464330
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm Abdominal Aortic aneurysm Pubtator 25993291, 34814367, 38181271 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Aortic Aneurysm, Abdominal Aortic Aneurysm BEFREE 25993291
★★★★★
★☆☆☆☆
Found in Text Mining only
Apraxias Apraxia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 30070336
★★★★★
★☆☆☆☆
Found in Text Mining only