OTOR (otoraplin)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 56914
Gene name Otoraplin
Gene symbol OTOR
Synonyms (NCBI Gene)
FDPMIAL1
Chromosome 20
Chromosome location 20p12.1
Summary This gene encodes a member of the melanoma-inhibiting activity gene family. The encoded protein is secreted via the Golgi apparatus and may function in cartilage development and maintenance. A frequent polymorphism in the translation start codon of this g
miRNA miRNA information provided by mirtarbase database.
3
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (3)
miRTarBase ID miRNA Experiments Reference
MIRT017617 hsa-miR-335-5p Microarray 18185580
MIRT2059527 hsa-miR-1910 CLIP-seq
MIRT2059528 hsa-miR-455-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (5)
GO ID Ontology Definition Evidence Reference
GO:0001502 Process Cartilage condensation IBA
GO:0001502 Process Cartilage condensation IEA
GO:0005515 Function Protein binding IPI 32296183
GO:0005576 Component Extracellular region IEA
GO:0007605 Process Sensory perception of sound TAS 10873378
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
606067 8517 ENSG00000125879
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NRC9
Protein name Otoraplin (Fibrocyte-derived protein) (Melanoma inhibitory activity-like protein)
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07653 SH3_2 44 → 108 Variant SH3 domain Domain
Tissue specificity TISSUE SPECIFICITY: Highly expressed in cochlea.
Sequence 
MARILLLFLPGLVAVCAVHGIFMDRLASKKLCADDECVYTISLASAQEDYNAPDCRFINV
KKGQQIYVYSKLVKENGAGEFWAGSVYGDGQDEMGVVGYFPRNLVKEQRVYQEATKEVPT
TDIDFFCE
Sequence length 128
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
Gene miRNA Gene ontology Other IDs Protein 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 Unknown Diseases (5)
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
CENTRAL NERVOUS SYSTEM CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLIOBLASTOMA MULTIFORME — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GLIOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OTOR-related disorder Likely benign; Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (7)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Blood Coagulation Disorders Blood Coagulation Disorders BEFREE 31786240
★★★★★
★☆☆☆☆
Found in Text Mining only
Developmental absence of tooth Anodontia BEFREE 28301683
★★★★★
★☆☆☆☆
Found in Text Mining only
Disseminated Intravascular Coagulation Disseminated Intravascular Coagulation BEFREE 22728069, 28744465, 9697871
★★★★★
★☆☆☆☆
Found in Text Mining only
Fibrinogen Deficiency Fibrinogen Deficiency BEFREE 9697871
★★★★★
★☆☆☆☆
Found in Text Mining only
Hypofibrinogenemia Hypofibrinogenemia BEFREE 9697871
★★★★★
★☆☆☆☆
Found in Text Mining only
Melanoma Melanoma Pubtator 12592021 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
melanoma Melanoma BEFREE 29655307
★★★★★
★☆☆☆☆
Found in Text Mining only