TMPRSS4 (transmembrane serine protease 4) - Rat Genome Database

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Gene: TMPRSS4 (transmembrane serine protease 4) Homo sapiens
Analyze
Symbol: TMPRSS4
Name: transmembrane serine protease 4
RGD ID: 1312821
HGNC Page HGNC:11878
Description: Enables serine-type peptidase activity. Involved in protein processing. Acts upstream of or within negative regulation of growth rate and regulation of gene expression. Located in extracellular space and secretory granule.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CAP2; CAPH2; channel-activating protease 2; channel-activating serine protease 2; membrane-type serine protease 2; MT-SP2; TMPRSS3; transmembrane protease serine 4; transmembrane protease, serine 4; transmembrane serine protease 3; type II membrane serine protease
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
NCBI Annotation Information: Note: This gene has been reviewed for its involvement in coronavirus biology, and is involved in SARS-CoV-2 infection.
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811118,077,078 - 118,125,505 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11118,077,012 - 118,121,890 (+)EnsemblGRCh38hg38GRCh38
GRCh3711117,947,793 - 117,992,605 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611117,452,937 - 117,495,768 (+)NCBINCBI36Build 36hg18NCBI36
Build 3411117,452,975 - 117,494,380NCBI
Celera11115,105,578 - 115,148,408 (+)NCBICelera
Cytogenetic Map11q23.3NCBI
HuRef11113,881,375 - 113,924,217 (+)NCBIHuRef
CHM1_111117,833,208 - 117,876,364 (+)NCBICHM1_1
T2T-CHM13v2.011118,093,464 - 118,141,906 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8889548   PMID:10825129   PMID:12477932   PMID:12975309   PMID:14702039   PMID:15342556   PMID:15489334   PMID:17207965   PMID:17968309   PMID:18029348   PMID:19158246   PMID:20118200  
PMID:20631123   PMID:21637307   PMID:22067904   PMID:22692880   PMID:22944691   PMID:23420063   PMID:23922976   PMID:23957953   PMID:23978400   PMID:24012692   PMID:24072509   PMID:24132607  
PMID:24299317   PMID:24335200   PMID:24434139   PMID:24434435   PMID:24532432   PMID:24623722   PMID:25203520   PMID:25244400   PMID:25414083   PMID:25416956   PMID:25550850   PMID:26190376  
PMID:26546046   PMID:26722035   PMID:26989022   PMID:26993610   PMID:27344186   PMID:27385093   PMID:28259959   PMID:28466252   PMID:28651932   PMID:29254316   PMID:29337109   PMID:29529050  
PMID:29750426   PMID:30518486   PMID:31244309   PMID:31659178   PMID:31858539   PMID:31870109   PMID:32296183   PMID:32404436   PMID:32814053   PMID:33649798   PMID:34173918   PMID:34379296  
PMID:34595980   PMID:34709727   PMID:35970857   PMID:36380313   PMID:36560452  


Genomics

Comparative Map Data
TMPRSS4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811118,077,078 - 118,125,505 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11118,077,012 - 118,121,890 (+)EnsemblGRCh38hg38GRCh38
GRCh3711117,947,793 - 117,992,605 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611117,452,937 - 117,495,768 (+)NCBINCBI36Build 36hg18NCBI36
Build 3411117,452,975 - 117,494,380NCBI
Celera11115,105,578 - 115,148,408 (+)NCBICelera
Cytogenetic Map11q23.3NCBI
HuRef11113,881,375 - 113,924,217 (+)NCBIHuRef
CHM1_111117,833,208 - 117,876,364 (+)NCBICHM1_1
T2T-CHM13v2.011118,093,464 - 118,141,906 (+)NCBIT2T-CHM13v2.0
Tmprss4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39945,084,024 - 45,115,417 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl945,084,024 - 45,115,390 (-)EnsemblGRCm39 Ensembl
GRCm38945,172,726 - 45,204,119 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl945,172,726 - 45,204,092 (-)EnsemblGRCm38mm10GRCm38
MGSCv37944,980,809 - 45,012,158 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36944,923,721 - 44,955,070 (-)NCBIMGSCv36mm8
Celera942,448,298 - 42,479,621 (-)NCBICelera
Cytogenetic Map9A5.2NCBI
cM Map924.84NCBI
Tmprss4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8854,372,805 - 54,405,157 (-)NCBIGRCr8
mRatBN7.2845,475,819 - 45,508,409 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl845,476,053 - 45,508,409 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx850,971,333 - 51,003,650 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0849,250,081 - 49,282,399 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0847,120,666 - 47,152,977 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0849,469,804 - 49,503,304 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl849,469,503 - 49,502,647 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0848,096,253 - 48,129,105 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4848,120,501 - 48,154,809 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1848,129,873 - 48,192,563 (-)NCBI
Celera845,060,426 - 45,092,778 (-)NCBICelera
Cytogenetic Map8q22NCBI
Tmprss4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541219,258,949 - 19,292,829 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541219,258,955 - 19,292,766 (+)NCBIChiLan1.0ChiLan1.0
TMPRSS4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v29118,801,549 - 118,823,482 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan111119,906,512 - 119,928,432 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v011112,910,223 - 112,953,677 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.111116,843,287 - 116,884,767 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11116,843,287 - 116,884,767 (+)Ensemblpanpan1.1panPan2
TMPRSS4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1515,575,068 - 15,609,819 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl515,575,338 - 15,610,190 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha515,625,320 - 15,660,603 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0515,516,982 - 15,552,268 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl515,518,662 - 15,552,333 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1515,654,797 - 15,690,088 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0515,558,508 - 15,593,779 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0515,600,003 - 15,635,286 (-)NCBIUU_Cfam_GSD_1.0
Tmprss4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947100,258,799 - 100,294,556 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365423,204,303 - 3,215,167 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365423,180,260 - 3,216,208 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TMPRSS4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl945,400,600 - 45,435,916 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1945,400,263 - 45,436,936 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2950,441,507 - 50,476,053 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103248572
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11109,449,920 - 109,497,169 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1109,470,496 - 109,495,224 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604316,558,383 - 16,604,301 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tmprss4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478413,495,297 - 13,539,275 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478413,495,196 - 13,531,670 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TMPRSS4
20 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000050331] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3 copy number gain See cases [RCV000050627] Chr11:113444446..120648921 [GRCh38]
Chr11:113315168..120519630 [GRCh37]
Chr11:112820378..120024840 [NCBI36]
Chr11:11q23.2-23.3		 pathogenic
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 copy number gain See cases [RCV000053638] Chr11:100348599..135040246 [GRCh38]
Chr11:100219331..134910140 [GRCh37]
Chr11:99724541..134415350 [NCBI36]
Chr11:11q22.1-25		 pathogenic
NC_000011.9:g.(?_117856768)_(118972385_?)dup duplication Combined immunodeficiency due to CD3gamma deficiency [RCV001313154]|Glucose-6-phosphate transport defect [RCV001031254]|Immunodeficiency 18 [RCV001338286]|Immunodeficiency 19 [RCV001322413]|Inflammatory bowel disease 28 [RCV001304384] Chr11:117856768..118972385 [GRCh37]
Chr11:11q23.3		 uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3 copy number gain See cases [RCV000134064] Chr11:116851372..134998526 [GRCh38]
Chr11:116722088..134868420 [GRCh37]
Chr11:116227298..134373630 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3 copy number gain See cases [RCV000137582] Chr11:112864326..131189315 [GRCh38]
Chr11:112832130..131059210 [GRCh37]
Chr11:112240259..130564420 [NCBI36]
Chr11:11q23.2-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3 copy number gain See cases [RCV000137453] Chr11:116868935..135075271 [GRCh38]
Chr11:116739651..134945165 [GRCh37]
Chr11:116244861..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic|conflicting data from submitters
GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3 copy number gain See cases [RCV000138307] Chr11:116806268..135075271 [GRCh38]
Chr11:116676984..134945165 [GRCh37]
Chr11:116182194..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3 copy number gain See cases [RCV000139362] Chr11:117333952..127709156 [GRCh38]
Chr11:117204668..127579051 [GRCh37]
Chr11:116709878..127084261 [NCBI36]
Chr11:11q23.3-24.2		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000148276] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3 copy number gain See cases [RCV000240308] Chr11:115215434..120559928 [GRCh37]
Chr11:11q23.3		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000449449] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116684163-134938470)x3 copy number gain See cases [RCV000447848] Chr11:116684163..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116691675-134889485) copy number gain not provided [RCV000767667] Chr11:116691675..134889485 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_019894.4(TMPRSS4):c.685G>A (p.Val229Ile) single nucleotide variant Inborn genetic diseases [RCV003248446] Chr11:118111842 [GRCh38]
Chr11:117982557 [GRCh37]
Chr11:11q23.3		 likely benign
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000512291] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain not provided [RCV000683373] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3 copy number gain not provided [RCV000683365] Chr11:116669751..120979377 [GRCh37]
Chr11:11q23.3		 likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116697066-134934063)x3 copy number gain not provided [RCV000737686] Chr11:116697066..134934063 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_019894.4(TMPRSS4):c.1010-2A>G single nucleotide variant not provided [RCV000894070] Chr11:118115136 [GRCh38]
Chr11:117985851 [GRCh37]
Chr11:11q23.3		 likely benign
NC_000011.9:g.(?_117856768)_(118972385_?)del deletion Combined immunodeficiency due to CD3gamma deficiency [RCV001382626]|Immunodeficiency 18 [RCV001389243]|Immunodeficiency 19 [RCV001031688]|Inflammatory bowel disease 28 [RCV001386823] Chr11:117856768..118972385 [GRCh37]
Chr11:11q23.3		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116700253-134904063) copy number gain not provided [RCV000767816] Chr11:116700253..134904063 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3 copy number gain not provided [RCV000848151] Chr11:117830263..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NC_000011.9:g.(?_117856768)_(118972385_?)dup duplication Glucose-6-phosphate transport defect [RCV001031254]|Immunodeficiency 18 [RCV001338286] Chr11:117856768..118972385 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_019894.4(TMPRSS4):c.286T>C (p.Phe96Leu) single nucleotide variant Inborn genetic diseases [RCV002989889] Chr11:118103229 [GRCh38]
Chr11:117973944 [GRCh37]
Chr11:11q23.3		 uncertain significance
Single allele deletion Short stature [RCV001003892] Chr11:114433313..131230466 [GRCh37]
Chr11:11q23.2-25		 likely pathogenic
NC_000011.9:g.104288964_134937416dup duplication Distal trisomy 11q [RCV001250234] Chr11:104288964..134937416 [GRCh37]
Chr11:11q22.3-25		 pathogenic
NM_019894.4(TMPRSS4):c.131C>T (p.Ala44Val) single nucleotide variant not provided [RCV001755357] Chr11:118099072 [GRCh38]
Chr11:117969787 [GRCh37]
Chr11:11q23.3		 likely benign
NC_000011.9:g.(?_116691583)_(121500272_?)dup duplication Combined immunodeficiency due to CD3gamma deficiency [RCV003119252]|Immunodeficiency 18 [RCV003109226]|Immunodeficiency 19 [RCV003109224]|Inflammatory bowel disease 28 [RCV003109225]|Isolated microphthalmia 5 [RCV003119251]|RASopathy [RCV003119250] Chr11:116691583..121500272 [GRCh37]
Chr11:11q23.3-24.1		 uncertain significance
GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3 copy number gain not provided [RCV001829187] Chr11:112375478..128785742 [GRCh37]
Chr11:11q23.1-24.3		 pathogenic
GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1 copy number loss not provided [RCV001832892] Chr11:85422071..118022671 [GRCh37]
Chr11:11q14.1-23.3		 uncertain significance
GRCh37/hg19 11q23.3(chr11:117956263-118037183)x1 copy number loss not provided [RCV001832939] Chr11:117956263..118037183 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_116660844)_(121500272_?)dup duplication not provided [RCV003107886] Chr11:116660844..121500272 [GRCh37]
Chr11:11q23.3-24.1		 uncertain significance
NC_000011.9:g.(?_117209303)_(120133495_?)dup duplication not provided [RCV003122151] Chr11:117209303..120133495 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
NM_019894.4(TMPRSS4):c.797G>T (p.Gly266Val) single nucleotide variant Inborn genetic diseases [RCV002752483] Chr11:118113322 [GRCh38]
Chr11:117984037 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_019894.4(TMPRSS4):c.832A>G (p.Ile278Val) single nucleotide variant Inborn genetic diseases [RCV002974706] Chr11:118113357 [GRCh38]
Chr11:117984072 [GRCh37]
Chr11:11q23.3		 likely benign
NM_019894.4(TMPRSS4):c.270G>C (p.Glu90Asp) single nucleotide variant Inborn genetic diseases [RCV002704870] Chr11:118103213 [GRCh38]
Chr11:117973928 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_019894.4(TMPRSS4):c.1250G>A (p.Gly417Glu) single nucleotide variant Inborn genetic diseases [RCV002759835] Chr11:118117402 [GRCh38]
Chr11:117988117 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_019894.4(TMPRSS4):c.1162G>C (p.Gly388Arg) single nucleotide variant Inborn genetic diseases [RCV002980583] Chr11:118117314 [GRCh38]
Chr11:117988029 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_019894.4(TMPRSS4):c.1196A>C (p.His399Pro) single nucleotide variant Inborn genetic diseases [RCV002668137] Chr11:118117348 [GRCh38]
Chr11:117988063 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_019894.4(TMPRSS4):c.748C>T (p.His250Tyr) single nucleotide variant Inborn genetic diseases [RCV002892059] Chr11:118113273 [GRCh38]
Chr11:117983988 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_019894.4(TMPRSS4):c.1142A>T (p.Asp381Val) single nucleotide variant Inborn genetic diseases [RCV002788525] Chr11:118115270 [GRCh38]
Chr11:117985985 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_019894.4(TMPRSS4):c.1139T>G (p.Val380Gly) single nucleotide variant Inborn genetic diseases [RCV002664718] Chr11:118115267 [GRCh38]
Chr11:117985982 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_019894.4(TMPRSS4):c.1095A>T (p.Glu365Asp) single nucleotide variant Inborn genetic diseases [RCV003213345] Chr11:118115223 [GRCh38]
Chr11:117985938 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_019894.4(TMPRSS4):c.1162G>T (p.Gly388Cys) single nucleotide variant Inborn genetic diseases [RCV003194601] Chr11:118117314 [GRCh38]
Chr11:117988029 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_019894.4(TMPRSS4):c.58C>T (p.Arg20Cys) single nucleotide variant Inborn genetic diseases [RCV003178574] Chr11:118098999 [GRCh38]
Chr11:117969714 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_019894.4(TMPRSS4):c.1082C>T (p.Ala361Val) single nucleotide variant Inborn genetic diseases [RCV003260682] Chr11:118115210 [GRCh38]
Chr11:117985925 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_019894.4(TMPRSS4):c.314G>A (p.Arg105His) single nucleotide variant Inborn genetic diseases [RCV003286608] Chr11:118104694 [GRCh38]
Chr11:117975409 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_019894.4(TMPRSS4):c.544C>G (p.Pro182Ala) single nucleotide variant Inborn genetic diseases [RCV003369182] Chr11:118108857 [GRCh38]
Chr11:117979572 [GRCh37]
Chr11:11q23.3		 uncertain significance
Single allele duplication not provided [RCV003448710] Chr11:102134973..134945611 [GRCh37]
Chr11:11q22.2-25		 pathogenic
NM_019894.4(TMPRSS4):c.578G>C (p.Cys193Ser) single nucleotide variant not provided [RCV003398155] Chr11:118108891 [GRCh38]
Chr11:117979606 [GRCh37]
Chr11:11q23.3		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:7166
Count of miRNA genes:1357
Interacting mature miRNAs:1809
Transcripts:ENST00000437212, ENST00000517483, ENST00000517544, ENST00000518413, ENST00000518610, ENST00000519126, ENST00000519236, ENST00000519813, ENST00000520063, ENST00000522151, ENST00000522307, ENST00000522462, ENST00000522824, ENST00000523251, ENST00000523770, ENST00000524218, ENST00000528118, ENST00000534111
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
SHGC-85140  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,980,442 - 117,980,717UniSTSGRCh37
Build 3611117,485,652 - 117,485,927RGDNCBI36
Celera11115,138,292 - 115,138,567RGD
Cytogenetic Map11q23.3UniSTS
HuRef11113,914,097 - 113,914,372UniSTS
TNG Radiation Hybrid Map1154455.0UniSTS
SHGC-142104  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,946,117 - 117,946,388UniSTSGRCh37
Build 3611117,451,327 - 117,451,598RGDNCBI36
Celera11115,103,967 - 115,104,238RGD
Cytogenetic Map11q23.3UniSTS
HuRef11113,879,764 - 113,880,035UniSTS
TNG Radiation Hybrid Map1154448.0UniSTS
TMPRSS4_8068  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711117,988,695 - 117,989,313UniSTSGRCh37
Build 3611117,493,905 - 117,494,523RGDNCBI36
Celera11115,146,545 - 115,147,163RGD
HuRef11113,922,354 - 113,922,972UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 560 1 26 36 105 12 54 2 83 305 145 35 1 26
Low 554 13 115 147 111 27 1037 76 63 172 533 383 125 10 513 3 1
Below cutoff 1269 2570 1404 307 1123 293 2776 1844 2945 87 552 993 13 1040 1947 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001083947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001173551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001173552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001290094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001290096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_019894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_110734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005271613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005271614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005271615 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369358 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054369364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF179224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF216312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK172766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290361 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP002800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE736425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP220493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU685753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF445038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000437212   ⟹   ENSP00000416037
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,077,078 - 118,121,890 (+)Ensembl
RefSeq Acc Id: ENST00000517483   ⟹   ENSP00000431062
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,077,078 - 118,118,444 (+)Ensembl
RefSeq Acc Id: ENST00000517544   ⟹   ENSP00000429833
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,099,043 - 118,108,223 (+)Ensembl
RefSeq Acc Id: ENST00000518413
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,111,871 - 118,118,155 (+)Ensembl
RefSeq Acc Id: ENST00000518610
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,113,276 - 118,115,047 (+)Ensembl
RefSeq Acc Id: ENST00000519126
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,077,038 - 118,095,400 (+)Ensembl
RefSeq Acc Id: ENST00000519236   ⟹   ENSP00000429889
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,077,071 - 118,118,450 (+)Ensembl
RefSeq Acc Id: ENST00000519813
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,102,940 - 118,108,867 (+)Ensembl
RefSeq Acc Id: ENST00000520063
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,077,173 - 118,099,171 (+)Ensembl
RefSeq Acc Id: ENST00000522151   ⟹   ENSP00000428407
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,077,130 - 118,111,835 (+)Ensembl
RefSeq Acc Id: ENST00000522307   ⟹   ENSP00000428814
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,077,076 - 118,118,091 (+)Ensembl
RefSeq Acc Id: ENST00000522462
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,094,821 - 118,107,876 (+)Ensembl
RefSeq Acc Id: ENST00000522824   ⟹   ENSP00000430547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,077,094 - 118,118,457 (+)Ensembl
RefSeq Acc Id: ENST00000523251   ⟹   ENSP00000429209
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,077,077 - 118,118,182 (+)Ensembl
RefSeq Acc Id: ENST00000523770
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,114,871 - 118,115,560 (+)Ensembl
RefSeq Acc Id: ENST00000524218   ⟹   ENSP00000428246
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,113,292 - 118,118,450 (+)Ensembl
RefSeq Acc Id: ENST00000528118
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,105,567 - 118,115,219 (+)Ensembl
RefSeq Acc Id: ENST00000534111   ⟹   ENSP00000435184
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,077,038 - 118,121,890 (+)Ensembl
RefSeq Acc Id: ENST00000616579   ⟹   ENSP00000478147
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,077,012 - 118,119,839 (+)Ensembl
RefSeq Acc Id: ENST00000618855   ⟹   ENSP00000477949
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11118,077,012 - 118,119,839 (+)Ensembl
RefSeq Acc Id: NM_001083947   ⟹   NP_001077416
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,077,078 - 118,121,890 (+)NCBI
GRCh3711117,947,727 - 117,996,323 (+)NCBI
Build 3611117,452,937 - 117,495,768 (+)NCBI Archive
Celera11115,105,578 - 115,148,408 (+)RGD
HuRef11113,881,375 - 113,924,217 (+)ENTREZGENE
CHM1_111117,833,208 - 117,876,364 (+)NCBI
T2T-CHM13v2.011118,093,464 - 118,138,291 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001173551   ⟹   NP_001167022
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,077,078 - 118,121,890 (+)NCBI
GRCh3711117,947,727 - 117,996,323 (+)NCBI
Celera11115,105,578 - 115,148,408 (+)RGD
HuRef11113,881,375 - 113,924,217 (+)ENTREZGENE
CHM1_111117,833,208 - 117,876,364 (+)NCBI
T2T-CHM13v2.011118,093,464 - 118,138,291 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001173552   ⟹   NP_001167023
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,077,078 - 118,121,890 (+)NCBI
GRCh3711117,947,727 - 117,996,323 (+)NCBI
Celera11115,105,578 - 115,148,408 (+)RGD
HuRef11113,881,375 - 113,924,217 (+)ENTREZGENE
CHM1_111117,833,208 - 117,876,364 (+)NCBI
T2T-CHM13v2.011118,093,464 - 118,138,291 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001290094   ⟹   NP_001277023
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,077,078 - 118,121,890 (+)NCBI
CHM1_111117,833,208 - 117,876,364 (+)NCBI
T2T-CHM13v2.011118,093,464 - 118,138,291 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001290096   ⟹   NP_001277025
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,077,078 - 118,121,890 (+)NCBI
CHM1_111117,833,208 - 117,876,364 (+)NCBI
T2T-CHM13v2.011118,093,464 - 118,138,291 (+)NCBI
Sequence:
RefSeq Acc Id: NM_019894   ⟹   NP_063947
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,077,078 - 118,121,890 (+)NCBI
GRCh3711117,947,727 - 117,996,323 (+)NCBI
Build 3611117,452,937 - 117,495,768 (+)NCBI Archive
Celera11115,105,578 - 115,148,408 (+)RGD
HuRef11113,881,375 - 113,924,217 (+)ENTREZGENE
CHM1_111117,833,208 - 117,876,364 (+)NCBI
T2T-CHM13v2.011118,093,464 - 118,138,291 (+)NCBI
Sequence:
RefSeq Acc Id: NR_110734
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,077,078 - 118,121,890 (+)NCBI
CHM1_111117,833,208 - 117,876,364 (+)NCBI
T2T-CHM13v2.011118,093,464 - 118,138,291 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005271613   ⟹   XP_005271670
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,077,078 - 118,125,505 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005271614   ⟹   XP_005271671
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,077,078 - 118,125,505 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005271615   ⟹   XP_005271672
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,077,078 - 118,125,505 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011542901   ⟹   XP_011541203
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,077,078 - 118,125,505 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011542902   ⟹   XP_011541204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,077,078 - 118,125,505 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011542903   ⟹   XP_011541205
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,077,078 - 118,114,065 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011542904   ⟹   XP_011541206
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,077,078 - 118,110,397 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047427259   ⟹   XP_047283215
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,077,078 - 118,125,505 (+)NCBI
RefSeq Acc Id: XM_047427260   ⟹   XP_047283216
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,077,078 - 118,121,890 (+)NCBI
RefSeq Acc Id: XM_054369356   ⟹   XP_054225331
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011118,093,464 - 118,141,906 (+)NCBI
RefSeq Acc Id: XM_054369357   ⟹   XP_054225332
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011118,093,464 - 118,141,906 (+)NCBI
RefSeq Acc Id: XM_054369358   ⟹   XP_054225333
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011118,093,464 - 118,141,906 (+)NCBI
RefSeq Acc Id: XM_054369359   ⟹   XP_054225334
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011118,093,464 - 118,141,906 (+)NCBI
RefSeq Acc Id: XM_054369360   ⟹   XP_054225335
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011118,093,464 - 118,141,906 (+)NCBI
RefSeq Acc Id: XM_054369361   ⟹   XP_054225336
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011118,093,464 - 118,141,906 (+)NCBI
RefSeq Acc Id: XM_054369362   ⟹   XP_054225337
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011118,093,464 - 118,138,291 (+)NCBI
RefSeq Acc Id: XM_054369363   ⟹   XP_054225338
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011118,093,464 - 118,130,470 (+)NCBI
RefSeq Acc Id: XM_054369364   ⟹   XP_054225339
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011118,093,464 - 118,126,803 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001077416 (Get FASTA)   NCBI Sequence Viewer  
  NP_001167022 (Get FASTA)   NCBI Sequence Viewer  
  NP_001167023 (Get FASTA)   NCBI Sequence Viewer  
  NP_001277023 (Get FASTA)   NCBI Sequence Viewer  
  NP_001277025 (Get FASTA)   NCBI Sequence Viewer  
  NP_063947 (Get FASTA)   NCBI Sequence Viewer  
  XP_005271670 (Get FASTA)   NCBI Sequence Viewer  
  XP_005271671 (Get FASTA)   NCBI Sequence Viewer  
  XP_005271672 (Get FASTA)   NCBI Sequence Viewer  
  XP_011541203 (Get FASTA)   NCBI Sequence Viewer  
  XP_011541204 (Get FASTA)   NCBI Sequence Viewer  
  XP_011541205 (Get FASTA)   NCBI Sequence Viewer  
  XP_011541206 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283215 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283216 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225331 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225332 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225333 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225334 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225335 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225336 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225337 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225338 (Get FASTA)   NCBI Sequence Viewer  
  XP_054225339 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAF31436 (Get FASTA)   NCBI Sequence Viewer  
  AAF74526 (Get FASTA)   NCBI Sequence Viewer  
  AAH04855 (Get FASTA)   NCBI Sequence Viewer  
  AAH11703 (Get FASTA)   NCBI Sequence Viewer  
  AAQ88894 (Get FASTA)   NCBI Sequence Viewer  
  ACA06088 (Get FASTA)   NCBI Sequence Viewer  
  BAD18749 (Get FASTA)   NCBI Sequence Viewer  
  BAF83050 (Get FASTA)   NCBI Sequence Viewer  
  BAH12444 (Get FASTA)   NCBI Sequence Viewer  
  BAH13911 (Get FASTA)   NCBI Sequence Viewer  
  BAH14107 (Get FASTA)   NCBI Sequence Viewer  
  BAH14136 (Get FASTA)   NCBI Sequence Viewer  
  EAW67345 (Get FASTA)   NCBI Sequence Viewer  
  EAW67346 (Get FASTA)   NCBI Sequence Viewer  
  EAW67347 (Get FASTA)   NCBI Sequence Viewer  
  EAW67348 (Get FASTA)   NCBI Sequence Viewer  
  EAW67349 (Get FASTA)   NCBI Sequence Viewer  
  EAW67350 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000416037
  ENSP00000416037.3
  ENSP00000428246.1
  ENSP00000428407.1
  ENSP00000428814
  ENSP00000428814.1
  ENSP00000429209
  ENSP00000429209.1
  ENSP00000429833.1
  ENSP00000429889.1
  ENSP00000430547
  ENSP00000430547.1
  ENSP00000431062.1
  ENSP00000435184
  ENSP00000435184.1
  ENSP00000478147.1
GenBank Protein Q9NRS4 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001077416   ⟸   NM_001083947
- Peptide Label: isoform 3
- UniProtKB: B7Z8X1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_063947   ⟸   NM_019894
- Peptide Label: isoform 1
- UniProtKB: Q9NZA5 (UniProtKB/Swiss-Prot),   Q9NRS4 (UniProtKB/Swiss-Prot),   Q6UX37 (UniProtKB/Swiss-Prot),   Q5XKQ6 (UniProtKB/Swiss-Prot),   E7ERX8 (UniProtKB/Swiss-Prot),   B7Z8C5 (UniProtKB/Swiss-Prot),   B0YJB0 (UniProtKB/Swiss-Prot),   A8MU84 (UniProtKB/Swiss-Prot),   B7Z8X1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001167022   ⟸   NM_001173551
- Peptide Label: isoform 4
- UniProtKB: B7Z8X1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001167023   ⟸   NM_001173552
- Peptide Label: isoform 5
- UniProtKB: A0A087WTU6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005271672   ⟸   XM_005271615
- Peptide Label: isoform X6
- UniProtKB: A0A087WTU6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005271671   ⟸   XM_005271614
- Peptide Label: isoform X2
- UniProtKB: B7Z8X1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005271670   ⟸   XM_005271613
- Peptide Label: isoform X1
- UniProtKB: B7Z8X1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001277023   ⟸   NM_001290094
- Peptide Label: isoform 6
- UniProtKB: B7Z900 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001277025   ⟸   NM_001290096
- Peptide Label: isoform 7
- UniProtKB: E7ESG9 (UniProtKB/TrEMBL),   B7Z458 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011541206   ⟸   XM_011542904
- Peptide Label: isoform X9
- Sequence:
RefSeq Acc Id: XP_011541203   ⟸   XM_011542901
- Peptide Label: isoform X3
- UniProtKB: B7Z8X1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011541204   ⟸   XM_011542902
- Peptide Label: isoform X5
- UniProtKB: A0A087WTU6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011541205   ⟸   XM_011542903
- Peptide Label: isoform X8
- UniProtKB: G3V124 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000431062   ⟸   ENST00000517483
RefSeq Acc Id: ENSP00000429833   ⟸   ENST00000517544
RefSeq Acc Id: ENSP00000429889   ⟸   ENST00000519236
RefSeq Acc Id: ENSP00000435184   ⟸   ENST00000534111
RefSeq Acc Id: ENSP00000428407   ⟸   ENST00000522151
RefSeq Acc Id: ENSP00000428814   ⟸   ENST00000522307
RefSeq Acc Id: ENSP00000430547   ⟸   ENST00000522824
RefSeq Acc Id: ENSP00000429209   ⟸   ENST00000523251
RefSeq Acc Id: ENSP00000478147   ⟸   ENST00000616579
RefSeq Acc Id: ENSP00000428246   ⟸   ENST00000524218
RefSeq Acc Id: ENSP00000477949   ⟸   ENST00000618855
RefSeq Acc Id: ENSP00000416037   ⟸   ENST00000437212
RefSeq Acc Id: XP_047283215   ⟸   XM_047427259
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047283216   ⟸   XM_047427260
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054225331   ⟸   XM_054369356
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054225333   ⟸   XM_054369358
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054225335   ⟸   XM_054369360
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054225332   ⟸   XM_054369357
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054225334   ⟸   XM_054369359
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054225336   ⟸   XM_054369361
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054225337   ⟸   XM_054369362
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054225338   ⟸   XM_054369363
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054225339   ⟸   XM_054369364
- Peptide Label: isoform X9
Protein Domains
LDL-receptor class A   Peptidase S1   SRCR

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NRS4-F1-model_v2 AlphaFold Q9NRS4 1-437 view protein structure

Promoters
RGD ID:7222279
Promoter ID:EPDNEW_H16884
Type:initiation region
Name:TMPRSS4_1
Description:transmembrane protease, serine 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811118,077,078 - 118,077,138EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11878 AgrOrtholog
COSMIC TMPRSS4 COSMIC
Ensembl Genes ENSG00000137648 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000437212 ENTREZGENE
  ENST00000437212.8 UniProtKB/Swiss-Prot
  ENST00000517483.5 UniProtKB/TrEMBL
  ENST00000517544.1 UniProtKB/TrEMBL
  ENST00000519236.5 UniProtKB/TrEMBL
  ENST00000522151.5 UniProtKB/TrEMBL
  ENST00000522307 ENTREZGENE
  ENST00000522307.5 UniProtKB/TrEMBL
  ENST00000522824 ENTREZGENE
  ENST00000522824.5 UniProtKB/Swiss-Prot
  ENST00000523251 ENTREZGENE
  ENST00000523251.5 UniProtKB/Swiss-Prot
  ENST00000524218.1 UniProtKB/TrEMBL
  ENST00000534111 ENTREZGENE
  ENST00000534111.5 UniProtKB/Swiss-Prot
  ENST00000616579.4 UniProtKB/TrEMBL
Gene3D-CATH 2.40.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.10.250.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  4.10.400.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000137648 GTEx
HGNC ID HGNC:11878 ENTREZGENE
Human Proteome Map TMPRSS4 Human Proteome Map
InterPro LDL_receptor-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LDrepeatLR_classA_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1_PA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1_PA_chymotrypsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SRCR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SRCR-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SRCR-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Trypsin_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_HIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_SER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:56649 UniProtKB/Swiss-Prot
NCBI Gene 56649 ENTREZGENE
OMIM 606565 OMIM
PANTHER ACROSIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ACROSIN-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ldl_recept_a UniProtKB/TrEMBL
  SRCR_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Trypsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36579 PharmGKB
PRINTS CHYMOTRYPSIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE SRCR_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_DOM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_HIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_SER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART LDLa UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00202 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tryp_SPc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50494 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56487 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57424 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WTU6 ENTREZGENE, UniProtKB/TrEMBL
  A8MU84 ENTREZGENE
  B0YJB0 ENTREZGENE
  B7Z458 ENTREZGENE, UniProtKB/TrEMBL
  B7Z8C5 ENTREZGENE
  B7Z8X1 ENTREZGENE, UniProtKB/TrEMBL
  B7Z900 ENTREZGENE, UniProtKB/TrEMBL
  E5RIH1_HUMAN UniProtKB/TrEMBL
  E5RJR8_HUMAN UniProtKB/TrEMBL
  E7ERX8 ENTREZGENE
  E7ESG9 ENTREZGENE, UniProtKB/TrEMBL
  G3V124 ENTREZGENE, UniProtKB/TrEMBL
  H0YAX8_HUMAN UniProtKB/TrEMBL
  H0YBM5_HUMAN UniProtKB/TrEMBL
  Q5XKQ6 ENTREZGENE
  Q6UX37 ENTREZGENE
  Q9NRS4 ENTREZGENE
  Q9NZA5 ENTREZGENE
  TMPS4_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A8MU84 UniProtKB/Swiss-Prot
  B0YJB0 UniProtKB/Swiss-Prot
  B7Z8C5 UniProtKB/Swiss-Prot
  E7ERX8 UniProtKB/Swiss-Prot
  Q5XKQ6 UniProtKB/Swiss-Prot
  Q6UX37 UniProtKB/Swiss-Prot
  Q9NZA5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-01-23 TMPRSS4  transmembrane serine protease 4  TMPRSS4  transmembrane protease, serine 4  Symbol and/or name change 5135510 APPROVED