TMPRSS3 - transmembrane serine protease 3 Gene

Also Known as DFNB8; DFNB10; ECHOS1; TADG12

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 64699

About TMPRSS3

Cytogenetic location: 21q22.3 Genomic coordinates (GRCh38): 21:42,371,890-42,396,052 (from NCBI)

This gene has 9 transcripts (splice variants), 214 orthologues, 17 paralogues and is associated with 2 phenotypes. Biased expression in stomach (RPKM 9.6), gall bladder (RPKM 3.7) and 7 other tissues.

Summary

This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a serine protease domain, a transmembrane domain, an LDL receptor-like domain, and a scavenger receptor cysteine-rich domain. Serine proteases are known to be involved in a variety of biological processes, whose malfunction often leads to human diseases and disorders. This gene was identified by its association with both congenital and childhood onset autosomal recessive deafness. This gene is expressed in fetal cochlea and many Other tissues, and is thought to be involved in the development and maintenance of the inner ear or the contents of the perilymph and endolymph. This gene was also identified as a tumor-associated gene that is overexpressed in ovarian tumors. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012]

TMPRSS3 Products (4)

mRNA	Protein	Name
NM_001256317.3	NP_001243246.1	transmembrane protease serine 3 isoform 4
NM_024022.4	NP_076927.1	transmembrane protease serine 3 isoform 1
NM_032404.3	NP_115780.1	transmembrane protease serine 3 isoform 2
NM_032405.2	NP_115781.1	transmembrane protease serine 3 isoform 3

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables sodium channel regulator activity	IDA IDA: Inferred from direct assay	12393794	GOA

Biological Process GO Annotation	Evidence	References	Source
acts upstream of or within intracellular sodium ion homeostasis	IDA IDA: Inferred from direct assay	12393794	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	12393794	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

TMPRSS3 Protein Structure

Ldl_recept_a

SRCR_2

Trypsin

0
100
200
300
400
454 a.a.

Protein Preferred Names	Protein Names
transmembrane protease serine 3	serine protease TADG-12

Related Diseases

Diseases	Alias
Deafness, Autosomal Recessive 8	Neurosensory Nonsyndromic Recessive Deafness 8 DFNB8 Dfnb10 Deafness, Autosomal Recessive 10 Deafness, Childhood-Onset Neurosensory, Autosomal Recessive 8 Nsrd8 Autosomal Recessive Nonsyndromic Deafness 8 Deafness, Autosomal Recessive 8/10 Autosomal Recessive Deafness 10 Autosomal Recessive Deafness 8 Childhood-Onset Neurosensory Autosomal Recessive Deafness 8 Nrsd8 Deafness, Autosomal Recessive, 8 Childhood-Onset Neurosensory Deafness Autosomal Recessive 8 Deafness Autosomal Recessive 10 Deafness Autosomal Recessive 8/10 Deafness Neurosensory Autosomal Recessive 8 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 8 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 8 Deafness, Autosomal Recessive, Type 8/10
Non-Syndromic Genetic Deafness	Nonsyndromic Genetic Hearing Loss Isolated Genetic Deafness Isolated Genetic Hearing Loss Non-Syndromic Genetic Hearing Loss
Nonsyndromic Hearing Loss	Nonsyndromic Deafness Nonsyndromic Hearing Impairment Nonsyndromic Hearing Loss And Deafness Deafness, Nonsyndromic Isolated Deafness
Rare Genetic Deafness	Rare Genetic Hearing Loss
Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb	Autosomal Recessive Isolated Neurosensory Deafness Type Dfnb Autosomal Recessive Isolated Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Isolated Sensorineural Deafness Type Dfnb Autosomal Recessive Isolated Sensorineural Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Deafness Type Dfnb Autosomal Recessive Non-Syndromic Neurosensory Hearing Loss Type Dfnb Autosomal Recessive Non-Syndromic Sensorineural Hearing Loss Type Dfnb
Autosomal Recessive Nonsyndromic Deafness	Deafness, Autosomal Recessive, Nonsyndromic
Deafness, Autosomal Recessive
Deafness, Autosomal Recessive 98	DFNB98 Autosomal Recessive Nonsyndromic Deafness 98 Autosomal Recessive Deafness 98 Deafness, Autosomal Recessive, 98 Deafness, Autosomal Recessive, Type 98
Deafness, Autosomal Recessive 77	DFNB77 Autosomal Recessive Nonsyndromic Deafness 77 Autosomal Recessive Deafness 77 Deafness, Autosomal Recessive, 77 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 77 Deafness, Autosomal Recessive, Type 77
Deafness, Autosomal Recessive 39	DFNB39 Autosomal Recessive Nonsyndromic Deafness 39 Autosomal Recessive Deafness 39 Deafness, Autosomal Recessive, 39 Congenital Neurosensory Deafness Autosomal Recessive 39 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 39 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 39 Deafness, Autosomal Recessive, Type 39
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Enlarged Vestibular Aqueduct DFNB4 Neurosensory Nonsyndromic Recessive Deafness 4 Enlarged Vestibular Aqueduct Syndrome Nsrd4 Autosomal Recessive Nonsyndromic Deafness 4 Dilated Vestibular Aqueduct Dva Enlarged Vestibular Aqueduct, Digenic Autosomal Recessive Deafness 4 With Enlarged Vestibular Aqueduct Large Vestibular Aqueduct Syndrome Deafness, Autosomal Recessive, 4 Deafness Neurosensory Autosomal Recessive 4 Eva Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 4 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 4 Deafness, Autosomal Recessive, Type 4 , With Enlarged Vestibular Aqueduct
Petroclival Meningioma
Deafness, Autosomal Recessive 25	DFNB25 Autosomal Recessive Nonsyndromic Deafness 25 Autosomal Recessive Deafness 25 Deafness, Autosomal Recessive, 25 Deafness, Autosomal Recessive, Type 25
Deafness, Autosomal Recessive 83	DFNB83 Autosomal Recessive Nonsyndromic Deafness 83 Autosomal Recessive Deafness 83
Deafness, Autosomal Recessive 111	DFNB111 Autosomal Recessive Nonsyndromic Deafness 111 Autosomal Recessive Deafness 111 Deafness, Autosomal Recessive, 111
Deafness, Autosomal Recessive 6	DFNB6 Neurosensory Nonsyndromic Recessive Deafness 6 Nsrd6 Autosomal Recessive Nonsyndromic Deafness 6 Autosomal Recessive Deafness 6 Deafness, Autosomal Recessive, 6 Deafness Neurosensory Autosomal Recessive 6 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 6 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 6 Deafness, Autosomal Recessive, Type 6
Deafness, Autosomal Recessive 61	DFNB61 Autosomal Recessive Nonsyndromic Deafness 61 Autosomal Recessive Deafness 61 Deafness, Autosomal Recessive, 61 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 61 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 61 Deafness, Autosomal Recessive, Type 61
Deafness, Autosomal Recessive 24	DFNB24 Deafness, Autosomal Recessive, 24 Autosomal Recessive Nonsyndromic Deafness 24 Autosomal Recessive Deafness 24 Deafness, Autosomal Recessive, Type 24
Deafness, Autosomal Recessive 85	DFNB85 Autosomal Recessive Nonsyndromic Deafness 85 Autosomal Recessive Deafness 85
Deafness, Autosomal Recessive 42	DFNB42 Autosomal Recessive Nonsyndromic Deafness 42 Autosomal Recessive Deafness 42 Deafness, Autosomal Recessive, 42 Congenital Neurosensory Deafness Autosomal Recessive 42 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 42 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 42 Deafness, Autosomal Recessive, Type 42
Deafness, Autosomal Dominant 67	DFNA67 Autosomal Dominant Nonsyndromic Deafness 67 Autosomal Dominant Deafness 67 Deafness, Autosomal Dominant, 67 Deafness, Autosomal Dominant, Type 67
Deafness, Autosomal Dominant 7	DFNA7 Autosomal Dominant Nonsyndromic Deafness 7 Autosomal Dominant Deafness 7 Deafness, Autosomal Dominant, 7 Deafness, Autosomal Dominant, Type 7
Ovarian Cancer	Ovarian Carcinoma Ovarian Neoplasm Malignant Tumour Of Ovary Cancer Of The Ovary Epithelial Ovarian Cancer Neoplasm Of Ovary Ovarian Neoplasms Ovarian Cancers Malignant Neoplasm Of Ovary Primary Malignant Neoplasm Of Ovary Ovarian Cancer, Somatic Malignant Ovarian Tumor Ovary Neoplasm Primary Ovarian Cancer Tumor Of The Ovary Malignant Neoplasm Of The Ovary Malignant Tumor Of The Ovary Ovarian Malignant Tumor OC Ovarian Carcinomas Cancer, Ovarian Cancer Of Ovary Ovary Cancer Ca Ovary
Deafness, Autosomal Recessive 9	Auditory Neuropathy, Autosomal Recessive, 1 Neurosensory Nonsyndromic Recessive Deafness 9 DFNB9 Nsrd9 Autosomal Recessive Nonsyndromic Deafness 9 Autosomal Recessive Deafness 9 Nrsd9 AUNB1 Nonsyndromic Auditory Neuropathy Autosomal Recessive Nsran Deafness, Autosomal Recessive, 9 Deafness Neurosensory Autosomal Recessive 9 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 9 Non-Syndromic Recessive Hearing Loss 9 Deafness, Autosomal Recessive, Type 9 Auditory Neuropathy, Nonsyndromic Recessive
Auditory System Disease	Ear Diseases Ear And Mastoid Disease
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Auditory Neuropathy, Autosomal Dominant 1	Autosomal Dominant Auditory Neuropathy 1 AUNA1 Nsdan Auditory Neuropathy, Autosomal Dominant, 1 Auditory Neuropathy, Nonsyndromic Dominant Nonsyndromic Dominant Auditory Neuropathy Nonsyndromic Auditory Neuropathy Autosomal Dominant
Vestibular Disease	Vestibular Diseases Vertigo, Vestibular Disorder Vestibular Disorder Diseases Of Inner Ear
Deafness, Autosomal Recessive 12	DFNB12 Deafness, Autosomal Recessive 12, Modifier Of Autosomal Recessive Nonsyndromic Deafness 12 Autosomal Recessive Deafness 12 Deafness, Autosomal Recessive, 12 Congenital Neurosensory Deafness Autosomal Recessive 12 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 12 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 12 Deafness, Autosomal Recessive, Type 12
Deafness, Autosomal Recessive 29	DFNB29 Autosomal Recessive Nonsyndromic Deafness 29 Autosomal Recessive Deafness 29 Deafness, Autosomal Recessive, 29 Non-Syndromic Neurosensory Deafness Autosomal Recessive Type 29 Non-Syndromic Sensorineural Deafness Autosomal Recessive Type 29 Deafness, Autosomal Recessive, Type 29
Usher Syndrome, Type Id	Usher Syndrome Type 1d USH1D Usher Syndrome, Type 1d Usher Syndrome Type Id Usher Syndrome, Type Id/F, Digenic Usher Syndrome, Type 1d/F Digenic Usher Syndrome 1d Usher'S Syndrome Type 1d Usher Syndrome 1d/F USH1DF Ush1d/F Usher'S Syndrome Type 1h Usher Syndrome 1h Usher Syndrome Type Ih Usher Syndrome, Type 1d/F
Usher Syndrome, Type Iia	Usher Syndrome Type 2a USH2A Usher Syndrome, Type 2a Usher Syndrome Type Iia Retinal Disease In Usher Syndrome Type Iia, Modifier Of Us2 Ush2 Usher Syndrome 2a Usher'S Syndrome Type 2a Ushiia
Inner Ear Disease	Labyrinthine Dysfunction Diseases Of Inner Ear Labyrinthine Disease Abnormality Of The Inner Ear Labyrinth Diseases Labyrinthine Disorder Nonfunctioning Labyrinth Labyrinthine Loss Of Function Labyrinthine Syndrome Labyrinthine Disorder Nos
Usher Syndrome Type 2	Ush2 Usher Syndrome Type Ii
Pendred Syndrome	Goiter-Deafness Syndrome Deafness With Goiter PDS Thyroid Dyshormonogenesis 2b Tdh2b Autosomal Recessive Sensorineural Hearing Impairment And Goiter Pendred'S Syndrome Thyroid Hormonogenesis, Genetic Defect In, 2b Hypothyroidism, Congenital, Due To Dyshormonogenesis, 2b Congenital Hypothyroidism Due To Dyshormonogenesis 2b Genetic Defect In Thyroid Hormonogenesis 2b Autosomal Recessive Sensorineural Hearing Impairment, Enlarged Vestibular Aqueduct, And Goiter Goiter-Hearing Loss Syndrome Goitre-Deafness Syndrome Goitre Deafness
Autosomal Dominant Nonsyndromic Deafness	Autosomal Dominant Deafness
Otosclerosis	Otospongiosis
Usher Syndrome	Deafness-Retinitis Pigmentosa Syndrome Dystrophia Retinae Pigmentosa-Dysostosis Syndrome Graefe-Usher Syndrome Hallgren Syndrome Usher'S Syndrome Retinitis Pigmentosa-Deafness Syndrome Retinitis Pigmentosa-Hearing Loss Syndrome Ush Usher Syndromes
Usher Syndrome, Type I	USH1 Usher Syndrome Type 1 Us1 Usher Syndrome, Type 1b Usher Syndrome Type 1e Retinitis Pigmentosa And Congenital Deafness Usher Syndrome, Type Ie USH1E Usher Syndrome, Type 1e Usher Syndrome, Type 1a Usher Syndrome, Type Ib Usher Syndrome Type 1b Usher Syndrome Type Ie Usher Syndrome Type I Usher 1 Usher Syndrome, Type 1 Ush1a Usher Syndrome, Type I, French Variety Usher Syndrome, Type Ia Usher Syndrome 1b USH1B Usher'S Syndrome Type 1b Usher Syndrome Type Ib Ushib

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 (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14770	TMPRSS3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS14771	TMPRSS4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21265	Tmprss3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27784	Tmprss3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	TMPRSS3	VGNC	VGNC:47633
Mus musculus	TMPRSS3	MGD	MGI:2155445
Felis catus	TMPRSS3	VGNC	VGNC:66386
Bos taurus	TMPRSS3	VGNC	VGNC:36141
Macaca mulatta	TMPRSS3	VGNC	VGNC:78576
Rattus norvegicus	TMPRSS3	RGD	RGD:1310135
Others	TMPRSS3	NCBI