Gene Gene information from NCBI Gene database.
Entrez ID 80975
Gene name Transmembrane serine protease 5
Gene symbol TMPRSS5
Synonyms (NCBI Gene)
SPINESIN
Chromosome 11
Chromosome location 11q23.2
Summary This gene encodes a protein that belongs to the serine protease family. Serine proteases are known to be involved in many physiological and pathological processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014
miRNA miRNA information provided by mirtarbase database.
162
miRTarBase ID miRNA Experiments Reference
MIRT716023 hsa-miR-6800-3p HITS-CLIP 19536157
MIRT716022 hsa-miR-6736-3p HITS-CLIP 19536157
MIRT716021 hsa-miR-4267 HITS-CLIP 19536157
MIRT716020 hsa-miR-3183 HITS-CLIP 19536157
MIRT716019 hsa-miR-4723-3p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0004252 Function Serine-type endopeptidase activity IEA
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IDA 17918732
GO:0005886 Component Plasma membrane IEA
GO:0006508 Process Proteolysis IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606751 14908 ENSG00000166682
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H3S3
Protein name Transmembrane protease serine 5 (EC 3.4.21.-) (Spinesin)
Protein function May play a role in hearing.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15494 SRCR_2 116 213 Scavenger receptor cysteine-rich domain Domain
PF00089 Trypsin 218 448 Trypsin Domain
Tissue specificity TISSUE SPECIFICITY: Brain-specific. Predominantly expressed in neurons, in their axons, and at the synapses of motoneurons in the spinal cord.
Sequence
Sequence length 457
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
32
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)
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
Adrenocortical carcinoma, hereditary Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Atrial Fibrillation Associate 36253349, 40304040
★☆☆☆☆
Found in Text Mining only
Cerebral Infarction Associate 40304040
★☆☆☆☆
Found in Text Mining only
Coronary Disease Associate 33186364
★☆☆☆☆
Found in Text Mining only
Leukoencephalopathies Associate 36253349
★☆☆☆☆
Found in Text Mining only
Stroke Associate 36253349
★☆☆☆☆
Found in Text Mining only