TMPRSS3 - transmembrane serine protease 3 Gene

Homo sapiens

Also known as DFNB8; DFNB10; ECHOS1; TADG12

Gene ID: 64699 | Gene type: protein coding

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	Reference	Source
enables sodium channel regulator activity	IDA IDA: Inferred from direct assay	12393794	GOA

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

Cellular Component GO Annotation	Evidence	Reference	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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14770	TMPRSS3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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