Tmprss3 MGI Mouse Gene Detail - MGI:2155445 - transmembrane protease, serine 3

Symbol

Tmprss3
Name

transmembrane protease, serine 3

Feature Type

protein coding gene
IDs

MGI:2155445
NCBI Gene: 140765
Alliance

gene page
Transcription Start Sites

6 TSS

Sequence Map

Chr17:31398239-31417951 bp, - strand
From Ensembl annotation of GRCm39
View this region in JBrowse
Genome Browsers

Ensembl | UCSC | NCBI

Genetic Map

Chromosome 17, 15.80 cM
Mapping Data

1 experiment

SNPs within 2kb

708 from dbSNP Build 142
Strain Annotations

18

For selected strains:

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_2155445	protein coding gene	Chr17:31398237-31419478 (-)
129S1/SvImJ	MGP_129S1SvImJ_G0023484	protein coding gene	Chr17:30918944-30938702 (-)
A/J	MGP_AJ_G0023442	protein coding gene	Chr17:29909963-29929668 (-)
AKR/J	MGP_AKRJ_G0023407	protein coding gene	Chr17:30156682-30176388 (-)
BALB/cJ	MGP_BALBcJ_G0023447	protein coding gene	Chr17:30017870-30037628 (-)
C3H/HeJ	MGP_C3HHeJ_G0023208	protein coding gene	Chr17:30540502-30560206 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0023889	protein coding gene	Chr17:31987365-32007068 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0021363	protein coding gene	Chr17:27049751-27069427 (-)
CAST/EiJ	MGP_CASTEiJ_G0022709	protein coding gene	Chr17:30567870-30587617 (-)
CBA/J	MGP_CBAJ_G0023183	protein coding gene	Chr17:33411693-33431398 (-)
DBA/2J	MGP_DBA2J_G0023313	protein coding gene	Chr17:29327817-29347575 (-)
FVB/NJ	MGP_FVBNJ_G0023283	protein coding gene	Chr17:29111470-29131187 (-)
LP/J	MGP_LPJ_G0023391	protein coding gene	Chr17:31140422-31160180 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0023301	protein coding gene	Chr17:32476530-32496174 (-)
NZO/HlLtJ	MGP_NZOHlLtJ_G0023931	protein coding gene	Chr17:30529593-30549279 (-)
PWK/PhJ	MGP_PWKPhJ_G0022459	protein coding gene	Chr17:28143244-28162925 (-)
SPRET/EiJ	MGP_SPRETEiJ_G0022277	protein coding gene	Chr17:28516805-28536463 (-)
WSB/EiJ	MGP_WSBEiJ_G0022771	protein coding gene	Chr17:30488384-30508091 (-)

Human Ortholog

TMPRSS3, transmembrane serine protease 3

Vertebrate Orthologs

4

Vertebrate Orthology Source

Alliance of Genome Resources

Human Ortholog

TMPRSS3, transmembrane serine protease 3
Synonyms

DFNB10, DFNB8, ECHOS1, TADG12
Links

HGNC:11877

NCBI Gene ID: 64699

neXtProt AC: NX_P57727

UniProt: P57727
Chr Location

21q22.3; chr21:42371887-42396091 (-) GRCh38

MGI Vertebrate Homology

Tmprss3 stringent orthology
1 human;1 mouse;1 rat;2 zebrafish
HCOP

vertebrate homology predictions: TMPRSS3
Gene Tree

Tmprss3

Diseases

2 with human TMPRSS3 associations

				Human Disease	Mouse Models
				autosomal recessive nonsyndromic deafness 8 IDs autosomal recessive nonsyndromic deafness 8 DOID:0110527 ICD10CM:H90.3 OMIM:601072
				sensorineural hearing loss IDs sensorineural hearing loss DOID:10003 DOID:11053 DOID:12112 DOID:12114 ICD10CM:H90.5 ICD9CM_2006:389.11 ICD9CM_2006:389.14 ICD9CM:389.1 ICD9CM:389.10 ICD9CM:389.14 MESH:D006319 NCI:C26739 UMLS_CUI:C0018784

Click on a disease name to see all genes associated with that disease.

References

3 with disease annotations

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Phenotype Summary

24 phenotypes from 1 allele in 1 genetic background
6 images
34 phenotype references

Phenotype Overview

Blue squares indicate phenotypes directly attributed to mutations/alleles of this gene.

adipose tissue	behavior/neurological	cardiovascular system	cellular	craniofacial	digestive/alimentary system	embryo	endocrine/exocrine glands	growth/size/body	hearing/vestibular/ear	hematopoietic system	homeostasis/metabolism	integument	immune system	limbs/digits/tail	liver/biliary system	mortality/aging	muscle	nervous system	pigmentation	renal/urinary system	reproductive system	respiratory system	skeleton	taste/olfaction	neoplasm	vision/eye

Click cells to view annotations.

All Mutations and Alleles

11
Chemically induced (ENU)

1
Endonuclease-mediated

3
Targeted

7
Genomic Mutations

4 involving Tmprss3
Incidental Mutations

Mutagenetix , APF
Find Mice (IMSR)

23 strains or lines available
Comparison Matrix

Gene Expression + Phenotype

Mice homozygous for an ENU-induced allele exhibit early onset deafness and disrupted vestibular function associated with hair cell degeneration.

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All GO Annotations

8
GO References

6

Molecular Function

carbohydrate derivative binding	cytoskeletal protein binding	DNA binding	enzyme regulator	hydrolase	ligase	lipid binding	oxidoreductase	RNA binding	signaling receptor activity	signaling receptor binding	transcription	transferase	transporter

Biological Process

carbohydrate derivative metabolism	cell differentiation	cell population proliferation	cellular component organization	DNA-templated transcription	establishment of localization	homeostatic process	immune system process	lipid metabolic process	programmed cell death	protein metabolic process	response to stimulus	signaling	system development

Cellular Component

cell projection	cytoplasmic vesicle	cytoskeleton	cytosol	endoplasmic reticulum	endosome	extracellular region	Golgi apparatus	mitochondrion	membraneless organelle	nucleus	organelle envelope	organelle lumen	plasma membrane	protein-containing complex	synapse	vacuole

Click cells to view annotations.

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Expression Overview

GXD's primary emphasis is on endogenous gene expression during development. Click on grid cells to view annotations.

Blue cells = expressed in wild-type.
Gray triangles = other expression annotations only
(e.g. absence of expression or data from mutants).

early conceptus	embryo ectoderm	embryo endoderm	embryo mesoderm	embryo mesenchyme	extraembryonic component	alimentary system	auditory system	branchial arches	cardiovascular system	connective tissue	endocrine system	exocrine system	hemolymphoid system	integumental system	limbs	liver and biliary system	musculoskeletal system	nervous system	olfactory system	reproductive system	respiratory system	urinary system	visual system

Click cells to view annotations.

Assay Results

826
Tissues

79
cDNA Data

9
Literature Summary

5

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

Other Mouse Links

Allen Institute

GEO

Expression Atlas

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All Sequences

42
RefSeq

7
UniProt

4
CCDS

CCDS37547.1, CCDS50053.1

Ensembl

ENSMUSG00000024034 (Evidence)
NCBI Gene

140765

			Length	Strain/Species	Flank
genomic	ENSMUSG00000024034	Ensembl Gene Model \| MGI Sequence Detail	19713	C57BL/6J	± kb
transcript	ENSMUST00000114549	Ensembl \| MGI Sequence Detail	2881	Not Applicable
polypeptide	ENSMUSP00000110196	Ensembl \| MGI Sequence Detail	475	Not Applicable

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UniProt

4 Sequences
Protein Ontology

PR:000016457 transmembrane protease serine 3

(term hierarchy)
EC

3.4.21.-
InterPro Domains

IPR036055 LDL receptor-like superfamily

IPR023415 Low-density lipoprotein (LDL) receptor class A, conserved site

IPR002172 Low-density lipoprotein (LDL) receptor class A repeat

IPR001314 Peptidase S1A, chymotrypsin family

IPR009003 Peptidase S1, PA clan

IPR043504 Peptidase S1, PA clan, chymotrypsin-like fold

IPR001254 Serine proteases, trypsin domain

IPR018114 Serine proteases, trypsin family, histidine active site

IPR033116 Serine proteases, trypsin family, serine active site

IPR001190 SRCR domain

IPR017448 SRCR-like domain

IPR036772 SRCR-like domain superfamily
GlyGen

Q8K1T0 1 site

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All nucleic 15

cDNA 9

Primer pair 5

Other 1

Microarray probesets 2

Summaries

All 56

Developmental Gene Expression 5

Diseases 3

Gene Ontology 6

Phenotypes 34
Earliest

J:69673 Davisson MT, et al., Evolutionary breakpoints on human chromosome 21. Genomics. 2001 Nov;78(1/2):99-106
Latest

J:357279 Donovan MG, et al., Multimodal analysis of dysregulated heme metabolism, hypoxic signaling, and stress erythropoiesis in Down syndrome. Cell Rep. 2024 Aug 27;43(8):114599

TSS for Tmprss3:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr147276	Chr17:31417982-31417986 (-)	-33 bp
Tssr147275	Chr17:31417932-31417950 (-)	10 bp
Tssr147274	Chr17:31417898-31417928 (-)	38 bp
Tssr5081	Chr17:31417880-31417886 (-)	68 bp
Tssr5080	Chr17:31405594-31405630 (-)	12,339 bp
Tssr5079	Chr17:31405195-31405232 (-)	12,737 bp

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 12/10/2024 MGI 6.24