Gene Page: TMPRSS5
Summary ?
GeneID | 80975 |
Symbol | TMPRSS5 |
Synonyms | SPINESIN |
Description | transmembrane protease, serine 5 |
Reference | MIM:606751|HGNC:HGNC:14908|Ensembl:ENSG00000166682|HPRD:05995|Vega:OTTHUMG00000168186 |
Gene type | protein-coding |
Map location | 11q |
Pascal p-value | 0.15 |
Fetal beta | -0.87 |
eGene | Anterior cingulate cortex BA24 Caudate basal ganglia Cerebellum Cortex Frontal Cortex BA9 Hippocampus Hypothalamus Nucleus accumbens basal ganglia Putamen basal ganglia Myers' cis & trans Meta |
Gene in Data Sources
Gene set name | Method of gene set | Description | Info |
---|---|---|---|
CV:GWAScat | Genome-wide Association Studies | This data set includes 560 SNPs associated with schizophrenia. A total of 486 genes were mapped to these SNPs within 50kb. | |
CV:PGC128 | Genome-wide Association Study | A multi-stage schizophrenia GWAS of up to 36,989 cases and 113,075 controls. Reported by the Schizophrenia Working Group of PGC. 128 independent associations spanning 108 loci | |
CV:PGCnp | Genome-wide Association Study | GWAS | |
GSMA_I | Genome scan meta-analysis | Psr: 0.006 | |
GO_Annotation | Mapping neuro-related keywords to Gene Ontology annotations | Hits with neuro-related keywords: 1 |
Section I. Genetics and epigenetics annotation
CV:PGC128
SNP ID | Chromosome | Position | Allele | P | Function | Gene | Up/Down Distance |
---|---|---|---|---|---|---|---|
rs2514218 | chr11 | 113392994 | TC | 4.091E-10 | intergenic | DRD2,TMPRSS5 | dist=46993;dist=165274 |
eQTL annotation
SNP ID | Chromosome | Position | eGene | Gene Entrez ID | pvalue | qvalue | TSS distance | eQTL type |
---|---|---|---|---|---|---|---|---|
rs2885987 | chr11 | 113602554 | TMPRSS5 | 80975 | 0 | cis | ||
rs17115918 | chr11 | 113613757 | TMPRSS5 | 80975 | 0 | cis | ||
rs10789970 | chr11 | 113773945 | TMPRSS5 | 80975 | 0.16 | cis | ||
rs737518 | chr2 | 2734669 | TMPRSS5 | 80975 | 0.19 | trans | ||
rs264672 | chr3 | 65880606 | TMPRSS5 | 80975 | 1.213E-6 | trans | ||
rs1165892 | chr3 | 103844929 | TMPRSS5 | 80975 | 0.14 | trans | ||
rs12651357 | chr4 | 53029658 | TMPRSS5 | 80975 | 0.08 | trans | ||
rs9996479 | chr4 | 53029771 | TMPRSS5 | 80975 | 0.08 | trans | ||
rs4544841 | chr5 | 95491996 | TMPRSS5 | 80975 | 0.2 | trans | ||
rs17053975 | chr9 | 90836064 | TMPRSS5 | 80975 | 0.15 | trans | ||
rs11192251 | chr10 | 83798240 | TMPRSS5 | 80975 | 0.04 | trans | ||
rs11192252 | chr10 | 83798258 | TMPRSS5 | 80975 | 0.13 | trans | ||
rs7073610 | chr10 | 102006624 | TMPRSS5 | 80975 | 0.01 | trans | ||
rs2885987 | chr11 | 113602554 | TMPRSS5 | 80975 | 0.08 | trans | ||
rs17115918 | chr11 | 113613757 | TMPRSS5 | 80975 | 0.09 | trans | ||
rs17730330 | chr12 | 92998513 | TMPRSS5 | 80975 | 0.19 | trans | ||
rs17630491 | chr13 | 41292492 | TMPRSS5 | 80975 | 0.11 | trans | ||
rs3863293 | 11 | 113582504 | TMPRSS5 | ENSG00000166682.6 | 6.22E-7 | 0.01 | -5409 | gtex_brain_ba24 |
rs4083004 | 11 | 113582634 | TMPRSS5 | ENSG00000166682.6 | 6.22E-7 | 0.01 | -5539 | gtex_brain_ba24 |
rs4471465 | 11 | 113583690 | TMPRSS5 | ENSG00000166682.6 | 1.203E-6 | 0.01 | -6595 | gtex_brain_ba24 |
rs12279366 | 11 | 113585256 | TMPRSS5 | ENSG00000166682.6 | 6.22E-7 | 0.01 | -8161 | gtex_brain_ba24 |
rs12273259 | 11 | 113585370 | TMPRSS5 | ENSG00000166682.6 | 6.22E-7 | 0.01 | -8275 | gtex_brain_ba24 |
rs12292853 | 11 | 113585782 | TMPRSS5 | ENSG00000166682.6 | 5.131E-7 | 0.01 | -8687 | gtex_brain_ba24 |
rs3914060 | 11 | 113586757 | TMPRSS5 | ENSG00000166682.6 | 6.22E-7 | 0.01 | -9662 | gtex_brain_ba24 |
rs4938050 | 11 | 113590031 | TMPRSS5 | ENSG00000166682.6 | 6.22E-7 | 0.01 | -12936 | gtex_brain_ba24 |
rs7114297 | 11 | 113591402 | TMPRSS5 | ENSG00000166682.6 | 6.22E-7 | 0.01 | -14307 | gtex_brain_ba24 |
rs75601171 | 11 | 113506551 | TMPRSS5 | ENSG00000166682.6 | 1.974E-6 | 0 | 70544 | gtex_brain_putamen_basal |
rs151155465 | 11 | 113519175 | TMPRSS5 | ENSG00000166682.6 | 4.317E-8 | 0 | 57920 | gtex_brain_putamen_basal |
rs12291314 | 11 | 113520200 | TMPRSS5 | ENSG00000166682.6 | 7.414E-8 | 0 | 56895 | gtex_brain_putamen_basal |
rs876378 | 11 | 113521593 | TMPRSS5 | ENSG00000166682.6 | 4.355E-8 | 0 | 55502 | gtex_brain_putamen_basal |
rs74939839 | 11 | 113533742 | TMPRSS5 | ENSG00000166682.6 | 4.317E-8 | 0 | 43353 | gtex_brain_putamen_basal |
rs11214704 | 11 | 113562750 | TMPRSS5 | ENSG00000166682.6 | 3.856E-8 | 0 | 14345 | gtex_brain_putamen_basal |
rs45503699 | 11 | 113566327 | TMPRSS5 | ENSG00000166682.6 | 7.447E-10 | 0 | 10768 | gtex_brain_putamen_basal |
rs72103801 | 11 | 113569927 | TMPRSS5 | ENSG00000166682.6 | 4.494E-9 | 0 | 7168 | gtex_brain_putamen_basal |
rs73568808 | 11 | 113570208 | TMPRSS5 | ENSG00000166682.6 | 2.744E-10 | 0 | 6887 | gtex_brain_putamen_basal |
rs3802854 | 11 | 113570852 | TMPRSS5 | ENSG00000166682.6 | 7.086E-11 | 0 | 6243 | gtex_brain_putamen_basal |
rs111627504 | 11 | 113573461 | TMPRSS5 | ENSG00000166682.6 | 5.529E-11 | 0 | 3634 | gtex_brain_putamen_basal |
rs2089653 | 11 | 113573837 | TMPRSS5 | ENSG00000166682.6 | 2.021E-9 | 0 | 3258 | gtex_brain_putamen_basal |
rs2089652 | 11 | 113573914 | TMPRSS5 | ENSG00000166682.6 | 5.395E-11 | 0 | 3181 | gtex_brain_putamen_basal |
rs4553400 | 11 | 113574703 | TMPRSS5 | ENSG00000166682.6 | 5.249E-11 | 0 | 2392 | gtex_brain_putamen_basal |
rs3902836 | 11 | 113574840 | TMPRSS5 | ENSG00000166682.6 | 5.233E-11 | 0 | 2255 | gtex_brain_putamen_basal |
rs3907855 | 11 | 113577533 | TMPRSS5 | ENSG00000166682.6 | 2.323E-10 | 0 | -438 | gtex_brain_putamen_basal |
rs12285469 | 11 | 113581816 | TMPRSS5 | ENSG00000166682.6 | 2.327E-10 | 0 | -4721 | gtex_brain_putamen_basal |
rs3863293 | 11 | 113582504 | TMPRSS5 | ENSG00000166682.6 | 1.158E-13 | 0 | -5409 | gtex_brain_putamen_basal |
rs4083004 | 11 | 113582634 | TMPRSS5 | ENSG00000166682.6 | 1.158E-13 | 0 | -5539 | gtex_brain_putamen_basal |
rs4259857 | 11 | 113583491 | TMPRSS5 | ENSG00000166682.6 | 2.327E-10 | 0 | -6396 | gtex_brain_putamen_basal |
rs4471465 | 11 | 113583690 | TMPRSS5 | ENSG00000166682.6 | 8.457E-14 | 0 | -6595 | gtex_brain_putamen_basal |
rs12279366 | 11 | 113585256 | TMPRSS5 | ENSG00000166682.6 | 1.158E-13 | 0 | -8161 | gtex_brain_putamen_basal |
rs12273259 | 11 | 113585370 | TMPRSS5 | ENSG00000166682.6 | 3.576E-13 | 0 | -8275 | gtex_brain_putamen_basal |
rs12292722 | 11 | 113585371 | TMPRSS5 | ENSG00000166682.6 | 1.023E-9 | 0 | -8276 | gtex_brain_putamen_basal |
rs12292878 | 11 | 113585626 | TMPRSS5 | ENSG00000166682.6 | 2.327E-10 | 0 | -8531 | gtex_brain_putamen_basal |
rs12292853 | 11 | 113585782 | TMPRSS5 | ENSG00000166682.6 | 1.034E-13 | 0 | -8687 | gtex_brain_putamen_basal |
rs3914060 | 11 | 113586757 | TMPRSS5 | ENSG00000166682.6 | 1.158E-13 | 0 | -9662 | gtex_brain_putamen_basal |
rs17115875 | 11 | 113587738 | TMPRSS5 | ENSG00000166682.6 | 2.327E-10 | 0 | -10643 | gtex_brain_putamen_basal |
rs61345035 | 11 | 113587882 | TMPRSS5 | ENSG00000166682.6 | 2.327E-10 | 0 | -10787 | gtex_brain_putamen_basal |
rs11214711 | 11 | 113588082 | TMPRSS5 | ENSG00000166682.6 | 2.327E-10 | 0 | -10987 | gtex_brain_putamen_basal |
rs11195658 | 11 | 113588652 | TMPRSS5 | ENSG00000166682.6 | 2.327E-10 | 0 | -11557 | gtex_brain_putamen_basal |
rs4938050 | 11 | 113590031 | TMPRSS5 | ENSG00000166682.6 | 1.158E-13 | 0 | -12936 | gtex_brain_putamen_basal |
rs7114297 | 11 | 113591402 | TMPRSS5 | ENSG00000166682.6 | 1.158E-13 | 0 | -14307 | gtex_brain_putamen_basal |
rs12577772 | 11 | 113591532 | TMPRSS5 | ENSG00000166682.6 | 1.578E-9 | 0 | -14437 | gtex_brain_putamen_basal |
rs12295777 | 11 | 113592223 | TMPRSS5 | ENSG00000166682.6 | 2.307E-10 | 0 | -15128 | gtex_brain_putamen_basal |
rs73551130 | 11 | 113592489 | TMPRSS5 | ENSG00000166682.6 | 2.294E-10 | 0 | -15394 | gtex_brain_putamen_basal |
rs398045598 | 11 | 113616733 | TMPRSS5 | ENSG00000166682.6 | 2.365E-7 | 0 | -39638 | gtex_brain_putamen_basal |
Section II. Transcriptome annotation
General gene expression (GTEx)
Gene expression during devlopment (BrainCloud)
Footnote:
A total of 269 time points ploted, with n=38 fetal samples (x=1:38). Each triangle represents one time point.
Gene expression of temporal and spatial changes (BrainSpan)
Footnote:
SC: sub-cortical regions; SM: sensory-motor regions; FC: frontal cortex; and TP: temporal-parietal cortex
ST1: fetal (13 - 26 postconception weeks), ST2: early infancy to late childhood (4 months to 11 years), and ST3: adolescence to adulthood (13 - 23 years)
The bar shown representes the lower 25% and upper 25% of the expression distribution.
No co-expressed genes in brain regions
Section III. Gene Ontology annotation
Molecular function | GO term | Evidence | Neuro keywords | PubMed ID |
---|---|---|---|---|
GO:0004252 | serine-type endopeptidase activity | IEA | glutamate (GO term level: 7) | - |
GO:0005044 | scavenger receptor activity | IEA | - | |
GO:0008233 | peptidase activity | IEA | - | |
Biological process | GO term | Evidence | Neuro keywords | PubMed ID |
GO:0006508 | proteolysis | IEA | - | |
Cellular component | GO term | Evidence | Neuro keywords | PubMed ID |
GO:0016021 | integral to membrane | IEA | - | |
GO:0005886 | plasma membrane | IEA | - |
Section V. Pathway annotation
Pathway name | Pathway size | # SZGR 2.0 genes in pathway | Info |
---|---|---|---|
GOBERT OLIGODENDROCYTE DIFFERENTIATION DN | 1080 | 713 | All SZGR 2.0 genes in this pathway |
FORTSCHEGGER PHF8 TARGETS DN | 784 | 464 | All SZGR 2.0 genes in this pathway |