Gene Gene information from NCBI Gene database. Download as csv Download as pdf
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

162 Show/Hide all (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
MIRT716018	hsa-miR-6769b-3p	HITS-CLIP	19536157
MIRT716017	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT716016	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT716015	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT716014	hsa-miR-4279	HITS-CLIP	19536157
MIRT451969	hsa-miR-1321	PAR-CLIP	23592263
MIRT451968	hsa-miR-4739	PAR-CLIP	23592263
MIRT451967	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT451966	hsa-miR-4436b-3p	PAR-CLIP	23592263
MIRT451965	hsa-miR-4632-5p	PAR-CLIP	23592263
MIRT451964	hsa-miR-6735-5p	PAR-CLIP	23592263
MIRT451963	hsa-miR-6879-5p	PAR-CLIP	23592263
MIRT451961	hsa-miR-7843-5p	PAR-CLIP	23592263
MIRT451962	hsa-miR-4688	PAR-CLIP	23592263
MIRT451960	hsa-miR-6743-5p	PAR-CLIP	23592263
MIRT451959	hsa-miR-4270	PAR-CLIP	23592263
MIRT451958	hsa-miR-4441	PAR-CLIP	23592263
MIRT451957	hsa-miR-6754-5p	PAR-CLIP	23592263
MIRT451956	hsa-miR-3616-3p	PAR-CLIP	23592263
MIRT451955	hsa-miR-298	PAR-CLIP	23592263
MIRT451954	hsa-miR-1207-5p	PAR-CLIP	23592263
MIRT451953	hsa-miR-4763-3p	PAR-CLIP	23592263
MIRT451952	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT451951	hsa-miR-8085	PAR-CLIP	23592263
MIRT451950	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT451949	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT451948	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT451947	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT451945	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT451946	hsa-miR-3175	PAR-CLIP	23592263
MIRT451944	hsa-miR-486-3p	PAR-CLIP	23592263
MIRT451943	hsa-miR-4773	PAR-CLIP	23592263
MIRT451942	hsa-miR-6873-5p	PAR-CLIP	23592263
MIRT451941	hsa-miR-4476	PAR-CLIP	23592263
MIRT451940	hsa-miR-6876-5p	PAR-CLIP	23592263
MIRT451939	hsa-miR-6760-5p	PAR-CLIP	23592263
MIRT451938	hsa-miR-3179	PAR-CLIP	23592263
MIRT451937	hsa-miR-589-5p	PAR-CLIP	23592263
MIRT451936	hsa-miR-146a-5p	PAR-CLIP	23592263
MIRT451935	hsa-miR-146b-5p	PAR-CLIP	23592263
MIRT451934	hsa-miR-7153-5p	PAR-CLIP	23592263
MIRT451933	hsa-miR-4693-3p	PAR-CLIP	23592263
MIRT451932	hsa-miR-4419a	PAR-CLIP	23592263
MIRT451931	hsa-miR-4510	PAR-CLIP	23592263
MIRT451930	hsa-miR-6127	PAR-CLIP	23592263
MIRT451929	hsa-miR-6129	PAR-CLIP	23592263
MIRT451928	hsa-miR-6130	PAR-CLIP	23592263
MIRT451927	hsa-miR-6133	PAR-CLIP	23592263
MIRT451926	hsa-miR-3202	PAR-CLIP	23592263
MIRT451925	hsa-miR-185-5p	PAR-CLIP	23592263
MIRT451924	hsa-miR-4306	PAR-CLIP	23592263
MIRT451923	hsa-miR-4644	PAR-CLIP	23592263
MIRT451922	hsa-miR-5192	PAR-CLIP	23592263
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
MIRT716018	hsa-miR-6769b-3p	HITS-CLIP	19536157
MIRT716017	hsa-miR-6845-3p	HITS-CLIP	19536157
MIRT716016	hsa-miR-7110-3p	HITS-CLIP	19536157
MIRT716015	hsa-miR-6749-3p	HITS-CLIP	19536157
MIRT716014	hsa-miR-4279	HITS-CLIP	19536157
MIRT451969	hsa-miR-1321	PAR-CLIP	23592263
MIRT451968	hsa-miR-4739	PAR-CLIP	23592263
MIRT451967	hsa-miR-4756-5p	PAR-CLIP	23592263
MIRT451966	hsa-miR-4436b-3p	PAR-CLIP	23592263
MIRT451965	hsa-miR-4632-5p	PAR-CLIP	23592263
MIRT451964	hsa-miR-6735-5p	PAR-CLIP	23592263
MIRT451963	hsa-miR-6879-5p	PAR-CLIP	23592263
MIRT451961	hsa-miR-7843-5p	PAR-CLIP	23592263
MIRT451962	hsa-miR-4688	PAR-CLIP	23592263
MIRT451960	hsa-miR-6743-5p	PAR-CLIP	23592263
MIRT451959	hsa-miR-4270	PAR-CLIP	23592263
MIRT451958	hsa-miR-4441	PAR-CLIP	23592263
MIRT451957	hsa-miR-6754-5p	PAR-CLIP	23592263
MIRT451956	hsa-miR-3616-3p	PAR-CLIP	23592263
MIRT451955	hsa-miR-298	PAR-CLIP	23592263
MIRT451954	hsa-miR-1207-5p	PAR-CLIP	23592263
MIRT451953	hsa-miR-4763-3p	PAR-CLIP	23592263
MIRT451952	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT451951	hsa-miR-8085	PAR-CLIP	23592263
MIRT451950	hsa-miR-149-3p	PAR-CLIP	23592263
MIRT451949	hsa-miR-4728-5p	PAR-CLIP	23592263
MIRT451948	hsa-miR-6785-5p	PAR-CLIP	23592263
MIRT451947	hsa-miR-6883-5p	PAR-CLIP	23592263
MIRT451945	hsa-miR-6721-5p	PAR-CLIP	23592263
MIRT451946	hsa-miR-3175	PAR-CLIP	23592263
MIRT451944	hsa-miR-486-3p	PAR-CLIP	23592263
MIRT451943	hsa-miR-4773	PAR-CLIP	23592263
MIRT451942	hsa-miR-6873-5p	PAR-CLIP	23592263
MIRT451941	hsa-miR-4476	PAR-CLIP	23592263
MIRT451940	hsa-miR-6876-5p	PAR-CLIP	23592263
MIRT451939	hsa-miR-6760-5p	PAR-CLIP	23592263
MIRT451938	hsa-miR-3179	PAR-CLIP	23592263
MIRT451937	hsa-miR-589-5p	PAR-CLIP	23592263
MIRT451936	hsa-miR-146a-5p	PAR-CLIP	23592263
MIRT451935	hsa-miR-146b-5p	PAR-CLIP	23592263
MIRT451934	hsa-miR-7153-5p	PAR-CLIP	23592263
MIRT451933	hsa-miR-4693-3p	PAR-CLIP	23592263
MIRT451932	hsa-miR-4419a	PAR-CLIP	23592263
MIRT451931	hsa-miR-4510	PAR-CLIP	23592263
MIRT451930	hsa-miR-6127	PAR-CLIP	23592263
MIRT451929	hsa-miR-6129	PAR-CLIP	23592263
MIRT451928	hsa-miR-6130	PAR-CLIP	23592263
MIRT451927	hsa-miR-6133	PAR-CLIP	23592263
MIRT451926	hsa-miR-3202	PAR-CLIP	23592263
MIRT451925	hsa-miR-185-5p	PAR-CLIP	23592263
MIRT451924	hsa-miR-4306	PAR-CLIP	23592263
MIRT451923	hsa-miR-4644	PAR-CLIP	23592263
MIRT451922	hsa-miR-5192	PAR-CLIP	23592263
MIRT1441161	hsa-miR-1287	CLIP-seq
MIRT1441162	hsa-miR-1289	CLIP-seq
MIRT1441163	hsa-miR-27a	CLIP-seq
MIRT1441164	hsa-miR-27b	CLIP-seq
MIRT1441165	hsa-miR-3135b	CLIP-seq
MIRT1441166	hsa-miR-3162-5p	CLIP-seq
MIRT1441167	hsa-miR-3189-3p	CLIP-seq
MIRT1441168	hsa-miR-3612	CLIP-seq
MIRT1441169	hsa-miR-3619-3p	CLIP-seq
MIRT1441170	hsa-miR-3909	CLIP-seq
MIRT1441171	hsa-miR-4443	CLIP-seq
MIRT1441172	hsa-miR-4535	CLIP-seq
MIRT1441173	hsa-miR-4776-5p	CLIP-seq
MIRT1441174	hsa-miR-513a-5p	CLIP-seq
MIRT1441175	hsa-miR-650	CLIP-seq
MIRT1920994	hsa-miR-140-3p	CLIP-seq
MIRT1920995	hsa-miR-545	CLIP-seq
MIRT1920994	hsa-miR-140-3p	CLIP-seq
MIRT1920995	hsa-miR-545	CLIP-seq
MIRT1441161	hsa-miR-1287	CLIP-seq
MIRT1441165	hsa-miR-3135b	CLIP-seq
MIRT1441168	hsa-miR-3612	CLIP-seq
MIRT1441171	hsa-miR-4443	CLIP-seq
MIRT2353189	hsa-miR-4633-3p	CLIP-seq
MIRT2353190	hsa-miR-558	CLIP-seq
MIRT1441175	hsa-miR-650	CLIP-seq
MIRT2462014	hsa-miR-125a-3p	CLIP-seq
MIRT2462015	hsa-miR-3194-5p	CLIP-seq
MIRT2462016	hsa-miR-3918	CLIP-seq
MIRT2462017	hsa-miR-4640-5p	CLIP-seq
MIRT2462018	hsa-miR-4691-3p	CLIP-seq
MIRT2462019	hsa-miR-4726-5p	CLIP-seq
MIRT1441161	hsa-miR-1287	CLIP-seq
MIRT1441165	hsa-miR-3135b	CLIP-seq
MIRT1441168	hsa-miR-3612	CLIP-seq
MIRT1441171	hsa-miR-4443	CLIP-seq
MIRT2353189	hsa-miR-4633-3p	CLIP-seq
MIRT2353190	hsa-miR-558	CLIP-seq
MIRT1441175	hsa-miR-650	CLIP-seq
MIRT1441161	hsa-miR-1287	CLIP-seq
MIRT1441165	hsa-miR-3135b	CLIP-seq
MIRT1441168	hsa-miR-3612	CLIP-seq
MIRT1441171	hsa-miR-4443	CLIP-seq
MIRT2353189	hsa-miR-4633-3p	CLIP-seq
MIRT2353190	hsa-miR-558	CLIP-seq
MIRT1441175	hsa-miR-650	CLIP-seq

13 Show/Hide all (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
GO:0006508	Process	Proteolysis	IMP	17918732
GO:0008233	Function	Peptidase activity	IEA
GO:0008233	Function	Peptidase activity	IMP	17918732
GO:0008236	Function	Serine-type peptidase activity	IBA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0043025	Component	Neuronal cell body	IEA

MIM	HGNC	e!Ensembl
606751	14908	ENSG00000166682

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
PF00089	Trypsin	218 → 448	Trypsin	Domain
PF15494	SRCR_2	116 → 213	Scavenger receptor cysteine-rich domain	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

MSLMLDDQPPMEAQYAEEGPGPGIFRAEPGDQQHPISQAVCWRSMRRGCAVLGALGLLAG
AGVGSWLLVLYLCPAASQPISGTLQDEEITLSCSEASAEEALLPALPKTVSFRINSEDFL
LEAQVRDQPRWLLVCHEGWSPALGLQICWSLGHLRLTHHKGVNLTDIKLNSSQEFAQLSP
RLGGFLEEAWQPRNNCTSGQVVSLRCSECGARPLASRIVGGQSVAPGRWPWQASVALGFR
HTCGGSVLAPRWVVTAAHCMHSFRLARLSSWRVHAGLVSHSAVRPHQGALVERIIPHPLY
SAQNHDYDVALLRLQTALNFSDTVGAVCLPAKEQHFPKGSRCWVSGWGHTHPSHTYSSDM
LQDTVVPLFSTQLCNSSCVYSGALTPRMLCAGYLDGRADACQGDSGGPLVCPDGDTWRLV
GVVSWGRGCAEPNHPGVYAKVAEFLDWIHDTAQDSLL

Sequence length

457

Interactions

View interactions

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)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
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. Show/Hide Unknown Diseases (32)
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	31835028	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDER	—	GWAS catalog	39294497	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	31835028, 33479212	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	28540026, 31835028, 33479212, 33686288	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	31835028, 31926635, 32606422, 33479212, 34159505	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CANNABIS DEPENDENCE	—	GWAS catalog	37156939, 37985822	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign; Likely benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC LYMPHOCYTIC LEUKEMIA	—	GWAS catalog	28165464	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	39024449	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	37359372	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	29662059, 29942085, 30643256, 30718454, 30718901, 31835028, 31926635, 33479212, 33859377, 34045744, 34924174, 37464041, 37985818, 38177345, 41233554	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDER	—	GWAS catalog	29942085	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	27089181, 29255261, 29292387, 29942085, 30595370, 30643256, 32231276, 36244801	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	31835028	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	33479212	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	25056061, 26198764, 28540026, 28991256, 29483656, 30285260, 31268507, 31374203, 31740837, 31835028, 32606422, 33479212, 33686288, 34159505, 35396580, 39753749	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TMPRSS5-related disorder	Likely benign; Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	31835028	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining Show/Hide Text Mining Associations (7)
Atrial Fibrillation	Atrial fibrillation	Pubtator	36253349, 40304040	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	29064472		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Infarction	Ischemic stroke	Pubtator	40304040	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Disease	Coronary artery disease	Pubtator	33186364	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizoaffective Disorder	Schizoaffective Disorder	GWASCAT_DG	29064472		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	29064472		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stroke	Stroke	Pubtator	36253349	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
ITIH3	4	["Anorexia nervosa","Tourette syndrome","Obsessive-compulsive disorder","Psychiatric disorders"]	[]	4	["GWAS catalog (Anorexia nervosa)","GWAS catalog (Obsessive-compulsive disorder)","GWAS catalog (Psychiatric disorders)","GWAS catalog (Tourette syndrome)"]
CCDC68	5	["Anorexia nervosa","Mood disorder","Tourette syndrome","Obsessive-compulsive disorder","Psychiatric disorders"]	[]	5	["GWAS catalog (Anorexia nervosa)","GWAS catalog (Mood disorder)","GWAS catalog (Obsessive-compulsive disorder)","GWAS catalog (Psychiatric disorders)","GWAS catalog (Tourette syndrome)"]
SPPL3	4	["Anorexia nervosa","Cannabis abuse","Tourette syndrome","Obsessive-compulsive disorder"]	[]	4	["GWAS catalog (Anorexia nervosa)","GWAS catalog (Cannabis abuse)","GWAS catalog (Obsessive-compulsive disorder)","GWAS catalog (Tourette syndrome)"]
METTL15	5	["Anxiety disorder","Cannabis abuse","Lymphocytic leukemia","Obsessive-compulsive disorder","Psychiatric disorders"]	[]	5	["GWAS catalog (Anxiety disorder)","GWAS catalog (Cannabis abuse)","GWAS catalog (Lymphocytic leukemia)","GWAS catalog (Obsessive-compulsive disorder)","GWAS catalog (Psychiatric disorders)"]
SORCS3	6	["Anorexia nervosa","Anxiety disorder","Mood disorder","Tourette syndrome","Obsessive-compulsive disorder","Psychiatric disorders"]	[]	6	["GWAS catalog (Anorexia nervosa)","GWAS catalog (Anxiety disorder)","GWAS catalog (Mood disorder)","GWAS catalog (Obsessive-compulsive disorder)","GWAS catalog (Psychiatric disorders)","GWAS catalog (Tourette syndrome)"]

TMPRSS5 (transmembrane serine protease 5)

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