TMPRSS5 - transmembrane serine protease 5 Gene

Also Known as SPINESIN

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 80975

About TMPRSS5

Cytogenetic location: 11q23.2 Genomic coordinates (GRCh38): 11:113,687,550-113,706,308 (from NCBI)

This gene has 13 transcripts (splice variants), 188 orthologues and 17 paralogues. Biased expression in brain (RPKM 1.2), salivary gland (RPKM 0.5) and 9 other tissues.

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]

TMPRSS5 Products (5)

mRNA	Protein	Name
NM_001288749.2	NP_001275678.1	transmembrane protease serine 5 isoform 2
NM_001288750.2	NP_001275679.1	transmembrane protease serine 5 isoform 3
NM_001288751.2	NP_001275680.1	transmembrane protease serine 5 isoform 4
NM_001288752.2	NP_001275681.1	transmembrane protease serine 5 isoform 5
NM_030770.4	NP_110397.2	transmembrane protease serine 5 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables peptidase activity	IMP IMP: Inferred from mutant phenotype	17918732	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in proteolysis	IMP IMP: Inferred from mutant phenotype	17918732	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in plasma membrane	IDA IDA: Inferred from direct assay	17918732	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TMPRSS5 Protein Structure

SRCR_2

Trypsin

0
100
200
300
400
457 a.a.

Protein Preferred Names	Protein Names
transmembrane protease serine 5	transmembrane protease, serine 5

Related Diseases

Diseases	Alias
Deafness, Autosomal Recessive 25	DFNB25 Autosomal Recessive Nonsyndromic Deafness 25 Autosomal Recessive Deafness 25 Deafness, Autosomal Recessive, 25 Deafness, Autosomal Recessive, Type 25
Charcot-Marie-Tooth Disease, Axonal, Type 2e	Charcot-Marie-Tooth Disease Type 2 CMT2E CMT2S CMT2Y Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease Axonal Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2s Charcot-Marie-Tooth Disease, Type 2e Hereditary Motor And Sensory Neuropathy Type 2 Charcot-Marie-Tooth Neuropathy, Type 2s Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2y Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y Charcot-Marie-Tooth Neuropathy, Type 2y Charcot-Marie-Tooth Disease, Type 2y Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Neuropathy Type 2e Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation Cmt2 Due To Vcp Mutation Charcot-Marie-Tooth Disease Type 2s Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Cmt2 Charcot-Marie-Tooth Neuropathy, Type 2e Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type Hereditary Motor And Sensory Neuropathy Okinawa Type Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y Charcot-Marie-Tooth Neuropathy Type 2y Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s Charcot-Marie-Tooth Neuropathy Type 2s Charcot-Marie-Tooth Type 2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease 2e Charcot-Marie-Tooth Disease Axonal Type 2e Charcot-Marie-Tooth Disease Neuronal Type 2e Charcot-Marie-Tooth Disease 2s Charcot-Marie-Tooth Neuropathy Axonal Type 2s Charcot-Marie-Tooth Disease 2y Charcot-Marie-Tooth Disease, Type 2 Hereditary Motor And Sensory-Neuropathy Type Ii
Deafness, Autosomal Recessive 22	DFNB22 Autosomal Recessive Nonsyndromic Deafness 22 Autosomal Recessive Deafness 22 Deafness, Autosomal Recessive, 22 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 22 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 22
Deafness, Autosomal Recessive 24	DFNB24 Deafness, Autosomal Recessive, 24 Autosomal Recessive Nonsyndromic Deafness 24 Autosomal Recessive Deafness 24 Deafness, Autosomal Recessive, Type 24
Charcot-Marie-Tooth Disease, Axonal, Type 2a1	CMT2A1 Charcot-Marie-Tooth Disease Type 2a1 Hereditary Motor And Sensory Neuropathy Iia1 Hmsn Iia1 Hmsn2a1 Charcot-Marie-Tooth Disease, Type 2a1 Charcot-Marie-Tooth Disease Neuronal Type 2a1 Charcot-Marie-Tooth Neuropathy Type 2a1 Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a1 Charcot-Marie-Tooth Disease, Neuronal, Type 2a1 Charcot-Marie-Tooth Neuropathy, Type 2a1 Autosomal Dominant Charcot-Marie-Tooth Disease Axonal Type 2a1 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2a1 Charcot-Marie-Tooth Disease 2a1 Charcot-Marie-Tooth Disease Axonal Type 2a1
Developmental And Epileptic Encephalopathy 5	Epileptic Encephalopathy, Early Infantile, 5 DEE5 Eiee5 Developmental And Epileptic Encephalopathy, 5 Early Infantile Epileptic Encephalopathy 5 Encephalopathy, Epileptic, Early Infantile, Type 5
Charcot-Marie-Tooth Disease, Demyelinating, Type 1a	Charcot-Marie-Tooth Disease Type 1a CMT1A Charcot-Marie-Tooth Disease, Type Ia Hmsn1a Hereditary Motor And Sensory Neuropathy Ia Hmsn Ia Charcot-Marie-Tooth Neuropathy, Type 1a Charcot-Marie-Tooth Disease, Type 1a Charcot-Marie-Tooth Neuropathy Type 1a Hereditary Motor And Sensory Neuropathy 1a Microduplication 17p12 Charcot-Marie-Tooth Disease, Autosomal Dominant, With Focally Folded Myelin Sheaths, Type 1a Autosomal Dominant Charcot-Marie-Tooth Disease With Focally Folded Myelin Sheaths Type 1a Cmt 1a Charcot Marie Tooth Disease Type 1a Hmsn 1a Charcot-Marie-Tooth Disease 1a Charcot-Marie-Tooth Disease Demyelinating Type 1a Charcot-Marie-Tooth Disease Slow Nerve Conduction Type Unlinked To Duffy
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	CMTX1 Cmtx Charcot-Marie-Tooth Disease X-Linked Dominant 1 Charcot-Marie-Tooth Neuropathy, X-Linked Dominant, 1 X-Linked Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked Cmt1x X-Linked Charcot-Marie-Tooth Disease Type 1 X-Linked Hereditary Motor And Sensory Neuropathy Hereditary Motor And Sensory Neuropathy, X-Linked Hmsn, X-Linked Charcot-Marie-Tooth Neuropathy, X-Linked, 1 Cmt2, Formerly Charcot-Marie-Tooth Neuropathy X-Linked Dominant 1 Charcot-Marie-Tooth Neuropathy X-Linked 1 Charcot-Marie-Tooth Peroneal Muscular Atrophy X-Linked Hereditary Motor And Sensory Neuropathy X-Linked Hmsn X-Linked Charcot-Marie-Tooth, X-Linked Charcot-Marie-Tooth Disease, X-Linked Dominant, Type 1 Charcot-Marie-Tooth Disease, X-Linked, 1
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14772	TMPRSS5 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	TMPRSS5	VGNC	VGNC:47635
Macaca mulatta	TMPRSS5	VGNC	VGNC:78970
Bos taurus	TMPRSS5	VGNC	VGNC:36143
Felis catus	TMPRSS5	VGNC	VGNC:66388
Mus musculus	TMPRSS5	MGD	MGI:1933407
Rattus norvegicus	TMPRSS5	RGD	RGD:628625
Others	TMPRSS5	NCBI