Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
80975
Gene name Gene Name - the full gene name approved by the HGNC.
Transmembrane serine protease 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TMPRSS5
Synonyms (NCBI Gene) Gene synonyms aliases
SPINESIN
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q23.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
606751 14908 ENSG00000166682
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Anxiety Disorder Anxiety N/A N/A GWAS
Lymphocytic Leukemia Chronic lymphocytic leukemia N/A N/A GWAS
Mental Depression Major depressive disorder N/A N/A GWAS
Neuroticism Neuroticism N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Atrial Fibrillation Associate 36253349, 40304040
Cerebral Infarction Associate 40304040
Coronary Disease Associate 33186364
Leukoencephalopathies Associate 36253349
Stroke Associate 36253349