CTSG (cathepsin G) - Rat Genome Database

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Gene: CTSG (cathepsin G) Homo sapiens
Analyze
Symbol: CTSG
Name: cathepsin G
RGD ID: 1317010
HGNC Page HGNC:2532
Description: Enables several functions, including caspase binding activity; heparin binding activity; and serine-type endopeptidase activity. Involved in several processes, including biofilm matrix disassembly; defense response to bacterium; and regulation of cell-cell adhesion. Acts upstream of or within proteolysis. Located in several cellular components, including cytoplasmic stress granule; lysosome; and secretory granule.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CATG; CG; MGC23078
RGD Orthologs
Mouse
Rat
Bonobo
Dog
Pig
Green Monkey
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381424,573,518 - 24,576,250 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1424,573,518 - 24,576,250 (-)EnsemblGRCh38hg38GRCh38
GRCh371425,042,724 - 25,045,456 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361424,112,564 - 24,115,306 (-)NCBINCBI36Build 36hg18NCBI36
Build 341424,112,563 - 24,115,306NCBI
Celera144,907,510 - 4,910,252 (-)NCBICelera
Cytogenetic Map14q12NCBI
HuRef145,157,531 - 5,160,273 (-)NCBIHuRef
CHM1_11425,041,620 - 25,044,362 (-)NCBICHM1_1
T2T-CHM13v2.01418,772,405 - 18,775,137 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model



  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CTSGHumanReperfusion Injury  ISOCtsg (Mus musculus)7242055 RGD 
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CTSGHumanBrain-Lung-Thyroid Syndrome  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Brain-lung-thyroid syndromeClinVarPMID:25741868
CTSGHumanlysinuric protein intolerance  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Lysinuric protein intoleranceClinVarPMID:28492532
CTSGHumanSpecific Granule Deficiency  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Specific granule deficiencyClinVarPMID:28492532

1 to 20 of 47 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CTSGHuman(-)-alpha-phellandrene decreases expressionEXP 6480464alpha phellandrene results in decreased expression of CTSG mRNACTDPMID:25075043
CTSGHuman(-)-trans-epsilon-viniferin multiple interactionsEXP 6480464epsilon-viniferin inhibits the reaction [N-Formylmethionine Leucyl-Phenylalanine results in increased secretion of CTSG protein]CTDPMID:34144024
CTSGHuman2,2',4,4'-Tetrabromodiphenyl ether decreases expressionEXP 64804642 more ...CTDPMID:31675489
CTSGHuman2,3,7,8-tetrachlorodibenzodioxine increases expressionISOCtsg (Mus musculus)6480464Tetrachlorodibenzodioxin results in increased expression of CTSG mRNACTDPMID:16114106
CTSGHuman2,4,6-tribromophenol decreases expressionEXP 64804642 more ...CTDPMID:31675489
CTSGHuman2,4-dibromophenyl 2,4,5-tribromophenyl ether affects expressionISOCtsg (Mus musculus)64804642 more ...CTDPMID:38648751
CTSGHuman3,3',5,5'-tetrabromobisphenol A decreases expressionEXP 6480464tetrabromobisphenol A results in decreased expression of CTSG proteinCTDPMID:31675489
CTSGHuman4,4'-sulfonyldiphenol decreases expressionISOCtsg (Mus musculus)6480464bisphenol S results in decreased expression of CTSG mRNACTDPMID:39298647
CTSGHumanaflatoxin B1 increases expressionISOCtsg (Mus musculus)6480464Aflatoxin B1 results in increased expression of CTSG mRNACTDPMID:19770486
CTSGHumanall-trans-retinoic acid decreases expressionISOCtsg (Mus musculus)6480464Tretinoin results in decreased expression of CTSG mRNACTDPMID:16604517
CTSGHumanall-trans-retinoic acid multiple interactionsEXP 6480464[Tretinoin co-treated with arsenic trioxide] results in decreased expression of CTSG mRNACTDPMID:15894607
CTSGHumanall-trans-retinoic acid decreases expressionEXP 6480464Tretinoin results in decreased expression of CTSG mRNACTDPMID:15894607 and PMID:17218384
CTSGHumanalpha-phellandrene decreases expressionEXP 6480464alpha phellandrene results in decreased expression of CTSG mRNACTDPMID:25075043
CTSGHumananilines increases hydrolysisEXP 6480464CTSG protein results in increased hydrolysis of Aniline Compounds analogCTDPMID:6566611
CTSGHumananilines increases hydrolysisISOCtsg (Rattus norvegicus)6480464CTSG protein results in increased hydrolysis of Aniline Compounds analogCTDPMID:6566611
CTSGHumanarsane multiple interactionsEXP 6480464[Arsenic results in increased abundance of Cacodylic Acid] which affects the expression of CTSG mRNACTDPMID:28793237
CTSGHumanarsane affects expressionEXP 6480464Arsenic affects the expression of CTSG mRNACTDPMID:28793237
CTSGHumanarsenic atom multiple interactionsEXP 6480464[Arsenic results in increased abundance of Cacodylic Acid] which affects the expression of CTSG mRNACTDPMID:28793237
CTSGHumanarsenic atom affects expressionEXP 6480464Arsenic affects the expression of CTSG mRNACTDPMID:28793237
CTSGHumanarsenous acid multiple interactionsEXP 6480464[Tretinoin co-treated with Arsenic Trioxide] results in decreased expression of CTSG mRNACTDPMID:15894607

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Biological Process
1 to 20 of 27 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CTSGHumanangiotensin maturation involved_inTAS 150520179 ReactomeReactome:R-HSA-2022411
CTSGHumanbiofilm matrix disassembly involved_inIDA 150520179 PMID:32995850UniProtPMID:32995850
CTSGHumanchemotaxis involved_inIEAUniProtKB-KW:KW-0145150520179 UniProtGO_REF:0000043
CTSGHumancytokine-mediated signaling pathway involved_inTAS 150520179 ReactomeReactome:R-HSA-446652
CTSGHumandefense response to bacterium involved_inIEAUniProtKB-KW:KW-0044150520179 UniProtGO_REF:0000043
CTSGHumandefense response to fungus acts_upstream_of_or_withinIEAUniProtKB:P28293 and ensembl:ENSMUSP00000015583150520179 EnsemblGO_REF:0000107
CTSGHumandefense response to Gram-negative bacterium involved_inIDA 150520179 PMID:2116408UniProtPMID:2116408
CTSGHumandefense response to Gram-positive bacterium involved_inIDA 150520179 PMID:2116408 and PMID:2117044UniProtPMID:2116408 and PMID:2117044
CTSGHumandefense response to Gram-positive bacterium acts_upstream_of_or_withinIEAUniProtKB:P28293 and ensembl:ENSMUSP00000015583150520179 EnsemblGO_REF:0000107
CTSGHumanextracellular matrix disassembly involved_inTAS 150520179 ReactomeReactome:R-HSA-1474228
CTSGHumanimmune response involved_inTAS 150520179 PMID:2569462PINCPMID:2569462
CTSGHumanmonocyte chemotaxis involved_inIDA 150520179 PMID:15210802UniProtPMID:15210802
CTSGHumannegative regulation of T cell activation involved_inIDA 150520179 PMID:15100291UniProtPMID:15100291
CTSGHumanneutrophil activation involved_inIDA 150520179 PMID:22879591UniProtPMID:22879591
CTSGHumanneutrophil-mediated killing of gram-positive bacterium acts_upstream_of_or_withinIEAUniProtKB:P28293 and ensembl:ENSMUSP00000015583150520179 EnsemblGO_REF:0000107
CTSGHumanplatelet activation involved_inIDA 150520179 PMID:10702240UniProtPMID:10702240
CTSGHumanpositive regulation of immune response acts_upstream_of_or_withinIEAUniProtKB:P28293 and ensembl:ENSMUSP00000015583150520179 EnsemblGO_REF:0000107
CTSGHumanpositive regulation of platelet aggregation involved_inIDA 150520179 PMID:3390156UniProtPMID:3390156
CTSGHumanprotein maturation involved_inIBAMGI:109267 more ...150520179 GO_CentralGO_REF:0000033
CTSGHumanprotein phosphorylation involved_inIDA 150520179 PMID:8573071CACAOPMID:8573071
1 to 20 of 27 rows

Cellular Component
1 to 20 of 29 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CTSGHumanazurophil granule lumen located_inTAS 150520179 ReactomeReactome:R-HSA-6798751
CTSGHumancollagen-containing extracellular matrix located_inHDA 150520179 PMID:20551380 more ...BHF-UCLPMID:20551380 more ...
CTSGHumancytoplasm located_inIEAUniProtKB-KW:KW-0963150520179 UniProtGO_REF:0000043
CTSGHumancytoplasmic stress granule located_inIDA 150520179 PMID:1937776UniProtPMID:1937776
CTSGHumancytosol located_inIDA 150520179 PMID:29077095UniProtPMID:29077095
CTSGHumancytosol located_inIEAUniProtKB-SubCell:SL-0091150520179 UniProtGO_REF:0000044
CTSGHumancytosol located_inTAS 150520179 ReactomeReactome:R-HSA-448678 and Reactome:R-HSA-9635424
CTSGHumanextracellular exosome located_inHDA 150520179 PMID:19056867 and PMID:23533145UniProtPMID:19056867 and PMID:23533145
CTSGHumanextracellular region located_inHDA 150520179 PMID:27068509BHF-UCLPMID:27068509
CTSGHumanextracellular region located_inIEAUniProtKB-KW:KW-0964150520179 UniProtGO_REF:0000043
CTSGHumanextracellular region located_inIEAUniProtKB-SubCell:SL-0243150520179 UniProtGO_REF:0000044
CTSGHumanextracellular region located_inTAS 150520179 ReactomeReactome:R-HSA-1592316 more ...
CTSGHumanextracellular space located_inIDA 150520179 PMID:29077095 more ...UniProtPMID:29077095 more ...
CTSGHumanextracellular space located_inHDA 150520179 PMID:20551380BHF-UCLPMID:20551380
CTSGHumanextracellular space is_active_inIBAMGI:109266 more ...150520179 GO_CentralGO_REF:0000033
CTSGHumanlysosome located_inIEAUniProtKB-SubCell:SL-0158150520179 UniProtGO_REF:0000044
CTSGHumanlysosome located_inIEAUniProtKB-KW:KW-0458150520179 UniProtGO_REF:0000043
CTSGHumanlysosome located_inIDA 150520179 PMID:15100291UniProtPMID:15100291
CTSGHumanmembrane located_inIDA 150520179 PMID:29077095UniProtPMID:29077095
CTSGHumanmembrane located_inIEAUniProtKB-KW:KW-0472150520179 UniProtGO_REF:0000043
1 to 20 of 29 rows

Molecular Function
1 to 17 of 17 rows

  
Object Symbol
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Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CTSGHumancaspase binding enablesIPIUniProtKB:P49662150520179 PMID:29077095UniProtPMID:29077095
CTSGHumanheparin binding enablesIDA 150520179 PMID:11907569MGIPMID:11907569
CTSGHumanhydrolase activity enablesIEAUniProtKB-KW:KW-0378150520179 UniProtGO_REF:0000043
CTSGHumanpeptidase activity enablesTAS 150520179 ReactomeReactome:R-HSA-448678
CTSGHumanpeptidase activity enablesIEAUniProtKB-KW:KW-0645150520179 UniProtGO_REF:0000043
CTSGHumanpeptidase activity enablesIDA 150520179 PMID:11907569MGIPMID:11907569
CTSGHumanprotein binding enablesIPIUniProtKB:Q15323 and UniProtKB:Q7Z3S9150520179 PMID:25416956IntActPMID:25416956
CTSGHumanprotein binding enablesIPIUniProtKB:A8MQ03 and UniProtKB:Q9NRD5150520179 PMID:32296183IntActPMID:32296183
CTSGHumanreceptor ligand activity enablesIDA 150520179 PMID:15210802UniProtPMID:15210802
CTSGHumanserine-type endopeptidase activity enablesIBAMGI:109267 more ...150520179 GO_CentralGO_REF:0000033
CTSGHumanserine-type endopeptidase activity enablesIEAInterPro:IPR001254 and InterPro:IPR018114150520179 InterProGO_REF:0000002
CTSGHumanserine-type endopeptidase activity enablesIDA 150520179 PMID:12504904 more ...UniProtPMID:12504904 more ...
CTSGHumanserine-type endopeptidase activity enablesEXP 150520179 PMID:10512690ReactomePMID:10512690
CTSGHumanserine-type endopeptidase activity enablesTAS 150520179 ReactomeReactome:R-HSA-3785684
CTSGHumanserine-type endopeptidase activity enablesIEAEC:3.4.21.20150520179 UniProtGO_REF:0000003
CTSGHumanserine-type peptidase activity enablesIMP 150520179 PMID:1937776UniProtPMID:1937776
CTSGHumanserine-type peptidase activity enablesIEAUniProtKB-KW:KW-0720150520179 UniProtGO_REF:0000043
1 to 17 of 17 rows

Imported Annotations - KEGG (archival)

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CTSGHumanEntamoebiasis pathway  IEA 6907045 KEGGhsa:05146
CTSGHumanrenin-angiotensin cascade pathway   IEA 6907045 KEGGhsa:04614
CTSGHumansystemic lupus erythematosus pathway  IEA 6907045 KEGGhsa:05322

#
Reference Title
Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. Cathepsin g is required for sustained inflammation and tissue injury after reperfusion of ischemic kidneys. Shimoda N, etal., Am J Pathol. 2007 Mar;170(3):930-40.
1 to 10 of 14 rows
PMID:1387511   PMID:1452887   PMID:1861080   PMID:1873479   PMID:1937776   PMID:2116408   PMID:2117044   PMID:2164060   PMID:2318847   PMID:2501794   PMID:2569462   PMID:2616953  
PMID:2681419   PMID:3304423   PMID:3390156   PMID:3799965   PMID:3911778   PMID:6294088   PMID:7517206   PMID:7593196   PMID:7744748   PMID:7936190   PMID:8090757   PMID:8125298  
PMID:8194606   PMID:8400294   PMID:8408036   PMID:8454293   PMID:8573071   PMID:8849841   PMID:8896442   PMID:9337538   PMID:9412840   PMID:9536127   PMID:9565572   PMID:9698370  
PMID:9718313   PMID:10512690   PMID:10702240   PMID:10899625   PMID:10978167   PMID:11241273   PMID:11259672   PMID:11307827   PMID:11389039   PMID:11502364   PMID:11520773   PMID:11520793  
PMID:11536009   PMID:11557685   PMID:11747312   PMID:11907569   PMID:11920276   PMID:11928814   PMID:11945165   PMID:11961105   PMID:11986950   PMID:12189154   PMID:12477932   PMID:12504904  
PMID:12524437   PMID:12531874   PMID:12784398   PMID:12949073   PMID:14688365   PMID:14737102   PMID:15100291   PMID:15123239   PMID:15131125   PMID:15140022   PMID:15210802   PMID:15385470  
PMID:15489334   PMID:15650747   PMID:15967795   PMID:16034099   PMID:16317101   PMID:16444434   PMID:16963625   PMID:16977463   PMID:17418861   PMID:17653609   PMID:18217133   PMID:18586676  
PMID:18835135   PMID:19036358   PMID:19056482   PMID:19056867   PMID:19250736   PMID:19528350   PMID:19578796   PMID:19620298   PMID:19910052   PMID:19913121   PMID:20056178   PMID:20331476  
PMID:20551380   PMID:20589323   PMID:20628086   PMID:20800603   PMID:21193413   PMID:21488974   PMID:21543057   PMID:21630459   PMID:21850236   PMID:21873635   PMID:22145905   PMID:22588119  
PMID:22641217   PMID:22879591   PMID:22915586   PMID:23147993   PMID:23376485   PMID:23454598   PMID:23466190   PMID:23533145   PMID:23940756   PMID:24532668   PMID:24877096   PMID:24929239  
1 to 10 of 14 rows



CTSG
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381424,573,518 - 24,576,250 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1424,573,518 - 24,576,250 (-)EnsemblGRCh38hg38GRCh38
GRCh371425,042,724 - 25,045,456 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361424,112,564 - 24,115,306 (-)NCBINCBI36Build 36hg18NCBI36
Build 341424,112,563 - 24,115,306NCBI
Celera144,907,510 - 4,910,252 (-)NCBICelera
Cytogenetic Map14q12NCBI
HuRef145,157,531 - 5,160,273 (-)NCBIHuRef
CHM1_11425,041,620 - 25,044,362 (-)NCBICHM1_1
T2T-CHM13v2.01418,772,405 - 18,775,137 (-)NCBIT2T-CHM13v2.0
Ctsg
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391456,337,342 - 56,340,031 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1456,337,338 - 56,340,031 (-)EnsemblGRCm39 Ensembl
GRCm381456,099,885 - 56,102,574 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1456,099,881 - 56,102,574 (-)EnsemblGRCm38mm10GRCm38
MGSCv371456,718,718 - 56,721,411 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361455,053,952 - 55,056,645 (-)NCBIMGSCv36mm8
Celera1453,905,080 - 53,907,773 (-)NCBICelera
Cytogenetic Map14C3NCBI
cM Map1428.19NCBI
Ctsg
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81533,901,230 - 33,907,596 (-)NCBIGRCr8
mRatBN7.21529,930,988 - 29,937,353 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1529,931,003 - 29,937,353 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1531,780,745 - 31,783,332 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01532,927,946 - 32,930,533 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01531,186,079 - 31,188,666 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01535,107,333 - 35,113,678 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1535,111,091 - 35,113,678 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01538,994,558 - 39,000,903 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41534,622,211 - 34,624,798 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11534,637,918 - 34,648,441 (-)NCBI
Celera1529,509,460 - 29,512,047 (-)NCBICelera
Cytogenetic Map15p12NCBI
CTSG
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21525,921,107 - 25,923,838 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11425,137,599 - 25,140,330 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0145,342,517 - 5,345,218 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11423,466,259 - 23,468,960 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1423,466,265 - 23,468,960 (-)Ensemblpanpan1.1panPan2
CTSG
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.184,483,327 - 4,485,933 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl84,470,577 - 4,512,628 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha84,404,974 - 4,407,573 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.084,594,740 - 4,597,337 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl84,582,079 - 4,597,280 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.184,284,216 - 4,286,825 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.084,346,800 - 4,349,397 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.084,609,195 - 4,611,806 (-)NCBIUU_Cfam_GSD_1.0
LOC100154047
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1774,761,602 - 74,772,950 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2779,789,517 - 79,792,248 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CTSG
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1241,518,004 - 1,521,980 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl241,518,119 - 1,520,709 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603613,210,626 - 13,213,332 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0

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Variants in CTSG
23 total Variants

1 to 10 of 53 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
GRCh38/hg38 14q11.2-12(chr14:20151149-27723796)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051484]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051484]|See cases [RCV000051484] Chr14:20151149..27723796 [GRCh38]
Chr14:20619308..28193002 [GRCh37]
Chr14:19689148..27262842 [NCBI36]
Chr14:14q11.2-12
pathogenic
GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1 copy number loss See cases [RCV000051485] Chr14:20196945..45284802 [GRCh38]
Chr14:20665104..45754005 [GRCh37]
Chr14:19734944..44823755 [NCBI36]
Chr14:14q11.2-21.2
pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1 copy number loss See cases [RCV000051490] Chr14:23548960..41983402 [GRCh38]
Chr14:24018169..42452605 [GRCh37]
Chr14:23088009..41522355 [NCBI36]
Chr14:14q11.2-21.1
pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3 copy number gain See cases [RCV000053803] Chr14:20000611..38984415 [GRCh38]
Chr14:20468770..39453619 [GRCh37]
Chr14:19538610..38523370 [NCBI36]
Chr14:14q11.2-21.1
pathogenic
GRCh38/hg38 14q11.2-21.1(chr14:20150949-39746154)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053806]|See cases [RCV000053806] Chr14:20150949..39746154 [GRCh38]
Chr14:20619108..40215358 [GRCh37]
Chr14:19688948..39285109 [NCBI36]
Chr14:14q11.2-21.1
pathogenic
NM_001911.2(CTSG):c.668T>C (p.Val223Ala) single nucleotide variant Malignant melanoma [RCV000070520] Chr14:24573737 [GRCh38]
Chr14:25042943 [GRCh37]
Chr14:24112783 [NCBI36]
Chr14:14q12
not provided
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3 copy number gain See cases [RCV000137725] Chr14:20412587..25018120 [GRCh38]
Chr14:20880746..25487326 [GRCh37]
Chr14:19950586..24557166 [NCBI36]
Chr14:14q11.2-12
likely pathogenic
GRCh38/hg38 14q11.2-12(chr14:23984065-25374494)x1 copy number loss See cases [RCV000142873] Chr14:23984065..25374494 [GRCh38]
Chr14:24453274..25843700 [GRCh37]
Chr14:23523114..24913540 [NCBI36]
Chr14:14q11.2-12
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
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Predicted Target Of
Summary Value
Count of predictions:284
Count of miRNA genes:258
Interacting mature miRNAs:266
Transcripts:ENST00000216336, ENST00000552252
Prediction methods:Microtar, Miranda, Rnahybrid
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.


The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
597388434GWAS1484508_Hconotruncal heart malformations QTL GWAS1484508 (human)0.000008congenital heart disease142457500624575007Human

RH71371  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371425,042,796 - 25,042,974UniSTSGRCh37
Build 361424,112,636 - 24,112,814RGDNCBI36
Celera144,907,582 - 4,907,760RGD
Cytogenetic Map14q11.2UniSTS
HuRef145,157,603 - 5,157,781UniSTS
GDB:177812  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371425,045,378 - 25,045,777UniSTSGRCh37
Build 361424,115,218 - 24,115,617RGDNCBI36
Celera144,910,164 - 4,910,563RGD
Cytogenetic Map14q11.2UniSTS
HuRef145,160,185 - 5,160,584UniSTS
PMC123164P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371425,044,829 - 25,045,349UniSTSGRCh37
Build 361424,114,669 - 24,115,189RGDNCBI36
Celera144,909,615 - 4,910,135RGD
Cytogenetic Map14q11.2UniSTS
HuRef145,159,636 - 5,160,156UniSTS
PMC24673P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371425,045,431 - 25,045,777UniSTSGRCh37
Build 361424,115,271 - 24,115,617RGDNCBI36
Celera144,910,217 - 4,910,563RGD
Cytogenetic Map14q11.2UniSTS
HuRef145,160,238 - 5,160,584UniSTS
RH69752  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371425,042,787 - 25,042,971UniSTSGRCh37
Build 361424,112,627 - 24,112,811RGDNCBI36
Celera144,907,573 - 4,907,757RGD
Cytogenetic Map14q11.2UniSTS
HuRef145,157,594 - 5,157,778UniSTS
GeneMap99-GB4 RH Map1419.84UniSTS
RH68974  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371425,042,839 - 25,043,023UniSTSGRCh37
Build 361424,112,679 - 24,112,863RGDNCBI36
Celera144,907,625 - 4,907,809RGD
Cytogenetic Map14q11.2UniSTS
HuRef145,157,646 - 5,157,830UniSTS
GeneMap99-GB4 RH Map1419.84UniSTS




adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2309 2724 2150 3510 1514 2026 4 573 1453 410 2027 6417 5807 20 2575 1 752 1535 1358 165 1



Ensembl Acc Id: ENST00000216336   ⟹   ENSP00000216336
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1424,573,518 - 24,576,250 (-)Ensembl
Ensembl Acc Id: ENST00000552252
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1424,573,522 - 24,576,250 (-)Ensembl
RefSeq Acc Id: NM_001911   ⟹   NP_001902
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381424,573,518 - 24,576,250 (-)NCBI
GRCh371425,042,724 - 25,045,466 (-)ENTREZGENE
Build 361424,112,564 - 24,115,306 (-)NCBI Archive
HuRef145,157,531 - 5,160,273 (-)ENTREZGENE
CHM1_11425,041,620 - 25,044,362 (-)NCBI
T2T-CHM13v2.01418,772,405 - 18,775,137 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011536499   ⟹   XP_011534801
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381424,573,518 - 24,576,250 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054375488   ⟹   XP_054231463
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01418,772,405 - 18,775,137 (-)NCBI
1 to 12 of 12 rows
Protein RefSeqs NP_001902 (Get FASTA)   NCBI Sequence Viewer  
  XP_011534801 (Get FASTA)   NCBI Sequence Viewer  
  XP_054231463 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA51919 (Get FASTA)   NCBI Sequence Viewer  
  AAA52126 (Get FASTA)   NCBI Sequence Viewer  
  AAH14460 (Get FASTA)   NCBI Sequence Viewer  
  CAG33088 (Get FASTA)   NCBI Sequence Viewer  
  CAG46505 (Get FASTA)   NCBI Sequence Viewer  
  EAW66006 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000216336
  ENSP00000216336.2
GenBank Protein P08311 (Get FASTA)   NCBI Sequence Viewer  
1 to 12 of 12 rows
RefSeq Acc Id: NP_001902   ⟸   NM_001911
- Peptide Label: preproprotein
- UniProtKB: Q9UCA5 (UniProtKB/Swiss-Prot),   Q6IBJ6 (UniProtKB/Swiss-Prot),   Q9UCU6 (UniProtKB/Swiss-Prot),   P08311 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011534801   ⟸   XM_011536499
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000216336   ⟸   ENST00000216336
RefSeq Acc Id: XP_054231463   ⟸   XM_054375488
- Peptide Label: isoform X1
Peptidase S1

Name Modeler Protein Id AA Range Protein Structure
AF-P08311-F1-model_v2 AlphaFold P08311 1-255 view protein structure

RGD ID:6791392
Promoter ID:HG_KWN:19120
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:NM_001911
Position:
Human AssemblyChrPosition (strand)Source
Build 361424,115,036 - 24,115,536 (-)MPROMDB
RGD ID:7227329
Promoter ID:EPDNEW_H19411
Type:initiation region
Name:CTSG_1
Description:cathepsin G
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
GRCh381424,576,250 - 24,576,310EPDNEW


1 to 34 of 34 rows
Database
Acc Id
Source(s)
COSMIC CTSG COSMIC
Ensembl Genes ENSG00000100448 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000216336 ENTREZGENE
  ENST00000216336.3 UniProtKB/Swiss-Prot
Gene3D-CATH 2.40.10.10 UniProtKB/Swiss-Prot
GTEx ENSG00000100448 GTEx
HGNC ID HGNC:2532 ENTREZGENE
Human Proteome Map CTSG Human Proteome Map
InterPro Peptidase_S1_PA UniProtKB/Swiss-Prot
  Peptidase_S1_PA_chymotrypsin UniProtKB/Swiss-Prot
  Peptidase_S1A UniProtKB/Swiss-Prot
  Trypsin_dom UniProtKB/Swiss-Prot
  TRYPSIN_HIS UniProtKB/Swiss-Prot
  TRYPSIN_SER UniProtKB/Swiss-Prot
KEGG Report hsa:1511 UniProtKB/Swiss-Prot
NCBI Gene 1511 ENTREZGENE
OMIM 116830 OMIM
PANTHER CATHEPSIN G UniProtKB/Swiss-Prot
  KALLIKREIN-RELATED UniProtKB/Swiss-Prot
Pfam Trypsin UniProtKB/Swiss-Prot
PharmGKB CTSG RGD, PharmGKB
PRINTS CHYMOTRYPSIN UniProtKB/Swiss-Prot
PROSITE TRYPSIN_DOM UniProtKB/Swiss-Prot
  TRYPSIN_HIS UniProtKB/Swiss-Prot
  TRYPSIN_SER UniProtKB/Swiss-Prot
SMART Tryp_SPc UniProtKB/Swiss-Prot
Superfamily-SCOP SSF50494 UniProtKB/Swiss-Prot
UniProt CATG_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q6IBJ6 ENTREZGENE
  Q9UCA5 ENTREZGENE
  Q9UCU6 ENTREZGENE
UniProt Secondary Q6IBJ6 UniProtKB/Swiss-Prot
  Q9UCA5 UniProtKB/Swiss-Prot
  Q9UCU6 UniProtKB/Swiss-Prot
1 to 34 of 34 rows