HTRA1 (HtrA serine peptidase 1) - Rat Genome Database

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Gene: HTRA1 (HtrA serine peptidase 1) Homo sapiens
Analyze
Symbol: HTRA1
Name: HtrA serine peptidase 1
RGD ID: 732659
HGNC Page HGNC
Description: Enables identical protein binding activity. Predicted to be involved in proteolysis. Predicted to act upstream of or within chorionic trophoblast cell differentiation; negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway; and placenta development. Located in plasma membrane. Colocalizes with collagen-containing extracellular matrix. Implicated in CADASIL (multiple); hypertension; and macular degeneration (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ARMD7; CADASIL2; CARASIL; high-temperature requirement A serine peptidase 1; HtrA; IGFBP5-protease; L56; ORF480; protease, serine, 11; protease, serine, 11 (IGF binding); PRSS11; serine protease HTRA1
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
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl10122,458,551 - 122,514,907 (+)EnsemblGRCh38hg38GRCh38
GRCh3810122,461,553 - 122,514,907 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3710124,221,069 - 124,274,423 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3610124,211,047 - 124,264,413 (+)NCBINCBI36hg18NCBI36
Build 3410124,211,110 - 124,264,413NCBI
Celera10117,953,296 - 118,006,683 (+)NCBI
Cytogenetic Map10q26.13NCBI
HuRef10117,851,770 - 117,905,378 (+)NCBIHuRef
CHM1_110124,505,637 - 124,559,026 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
2,3',4,4',5-Pentachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrotoluene  (ISO)
3',5'-cyclic AMP  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
acetazolamide  (ISO)
acrylamide  (EXP,ISO)
all-trans-retinoic acid  (ISO)
amiodarone  (ISO)
ammonium chloride  (ISO)
antimycin A  (ISO)
aristolochic acid  (EXP)
Aroclor 1254  (EXP)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-naphthoflavone  (EXP)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
calcium dichloride  (EXP)
captan  (ISO)
carbon nanotube  (EXP,ISO)
carbonyl sulfide  (ISO)
chloropicrin  (EXP)
ciguatoxin CTX1B  (ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
cobalt dichloride  (EXP,ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
cytarabine  (EXP)
deoxycholic acid  (EXP)
dibutyl phthalate  (ISO)
diethylstilbestrol  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
flutamide  (ISO)
folic acid  (ISO)
folpet  (ISO)
fonofos  (EXP)
formaldehyde  (EXP)
furan  (ISO)
graphite  (ISO)
isotretinoin  (EXP)
ketamine  (ISO)
L-ethionine  (ISO)
manganese(II) chloride  (ISO)
mercury dibromide  (EXP)
methotrexate  (ISO)
N-nitrosodiethylamine  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
nimesulide  (ISO)
omeprazole  (ISO)
oxaliplatin  (ISO)
p-chloromercuribenzoic acid  (EXP)
paracetamol  (EXP,ISO)
parathion  (EXP)
phenobarbital  (EXP)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
potassium dichromate  (ISO)
propiconazole  (ISO)
rotenone  (ISO)
SB 431542  (EXP)
serpentine asbestos  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sunitinib  (EXP)
tamoxifen  (ISO)
temozolomide  (EXP)
terbufos  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (ISO)
thioacetamide  (ISO)
thyroxine  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triptonide  (ISO)
tunicamycin  (EXP)
valproic acid  (EXP,ISO)
vemurafenib  (EXP)
vitamin E  (EXP)
zoledronic acid  (EXP)

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
1. Andreoli MT, etal., Am J Ophthalmol. 2009 Dec;148(6):869-74. doi: 10.1016/j.ajo.2009.07.002. Epub 2009 Oct 1.
2. Cameron DJ, etal., Cell Cycle. 2007 May 2;6(9):1122-5. Epub 2007 May 16.
3. Cheng Y, etal., PLoS One. 2013;8(1):e53665. doi: 10.1371/journal.pone.0053665. Epub 2013 Jan 9.
4. Deangelis MM, etal., Ophthalmology. 2008 Jul;115(7):1209-1215.e7. doi: 10.1016/j.ophtha.2007.10.032. Epub 2007 Dec 27.
5. Feehan M, etal., BMC Med Genet. 2011 Jun 17;12:83. doi: 10.1186/1471-2350-12-83.
6. Francis PJ, etal., Mol Vis. 2008 Aug 4;14:1395-400.
7. Gibbs D, etal., Vision Res. 2008 Feb;48(5):685-9. doi: 10.1016/j.visres.2007.10.022. Epub 2008 Jan 22.
8. GOA_HUMAN data from the GO Consortium
9. Goto A, etal., J Ocul Biol Dis Infor. 2009 Dec 22;2(4):164-175.
10. Hadley D, etal., Invest Ophthalmol Vis Sci. 2010 Apr;51(4):2191-6. doi: 10.1167/iovs.09-3798. Epub 2009 Nov 20.
11. Jaouni T, etal., Arch Ophthalmol. 2012 Aug;130(8):987-91. doi: 10.1001/archophthalmol.2012.1483.
12. Jones A, etal., Proc Natl Acad Sci U S A. 2011 Aug 30;108(35):14578-83. doi: 10.1073/pnas.1102853108. Epub 2011 Aug 15.
13. Kaur I, etal., Invest Ophthalmol Vis Sci. 2008 May;49(5):1771-6. doi: 10.1167/iovs.07-0560.
14. Liang X, etal., Zhonghua Yan Ke Za Zhi. 2012 Mar;48(3):241-5.
15. Nakanishi H, etal., Eye (Lond). 2010 Jun;24(6):1078-84. doi: 10.1038/eye.2009.215. Epub 2009 Aug 14.
16. OMIM Disease Annotation Pipeline
17. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
18. RGD automated import pipeline for gene-chemical interactions
19. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
20. Sun W, etal., Neuropharmacology. 2017 Feb;113(Pt A):556-566. doi: 10.1016/j.neuropharm.2016.11.010. Epub 2016 Nov 12.
21. Tian J, etal., Invest Ophthalmol Vis Sci. 2012 Jun 28;53(7):4262-9. doi: 10.1167/iovs.11-8542.
22. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:8619474   PMID:8977104   PMID:9110174   PMID:9344681   PMID:9852107   PMID:12242667   PMID:12477932   PMID:12513693   PMID:14500695   PMID:14702039   PMID:14716297   PMID:14973287  
PMID:15101818   PMID:15231748   PMID:15855271   PMID:15917099   PMID:16344560   PMID:16377621   PMID:16385451   PMID:16650464   PMID:16767218   PMID:17053108   PMID:17053109   PMID:17072861  
PMID:17094466   PMID:17292962   PMID:17438519   PMID:17568988   PMID:17679948   PMID:17692272   PMID:17718385   PMID:17884985   PMID:17904186   PMID:17962403   PMID:18079691   PMID:18156628  
PMID:18161619   PMID:18162041   PMID:18206206   PMID:18241672   PMID:18301036   PMID:18316707   PMID:18362109   PMID:18427598   PMID:18452160   PMID:18511946   PMID:18515590   PMID:18681782  
PMID:18682812   PMID:18718667   PMID:18806297   PMID:18939352   PMID:19001225   PMID:19026638   PMID:19056122   PMID:19065273   PMID:19117936   PMID:19169232   PMID:19187590   PMID:19199708  
PMID:19202148   PMID:19255159   PMID:19259132   PMID:19301262   PMID:19375943   PMID:19387015   PMID:19424634   PMID:19470753   PMID:19491722   PMID:19636338   PMID:19657146   PMID:19688690  
PMID:19783326   PMID:19798546   PMID:19845562   PMID:19913121   PMID:19948975   PMID:20132989   PMID:20140183   PMID:20238042   PMID:20346514   PMID:20378180   PMID:20379614   PMID:20381870  
PMID:20385819   PMID:20385826   PMID:20388781   PMID:20437615   PMID:20445115   PMID:20456446   PMID:20469960   PMID:20533271   PMID:20538655   PMID:20551380   PMID:20576771   PMID:20606025  
PMID:20628086   PMID:20664794   PMID:20671064   PMID:20678803   PMID:20688737   PMID:20861866   PMID:20881291   PMID:20888482   PMID:20940247   PMID:20943460   PMID:21031019   PMID:21060055  
PMID:21067572   PMID:21115960   PMID:21122828   PMID:21163940   PMID:21191724   PMID:21203342   PMID:21282580   PMID:21297635   PMID:21320870   PMID:21387310   PMID:21402993   PMID:21558292  
PMID:21622153   PMID:21665990   PMID:21708937   PMID:21817962   PMID:21882634   PMID:21899153   PMID:21959923   PMID:21988832   PMID:22049084   PMID:22155582   PMID:22259222   PMID:22487577  
PMID:22491416   PMID:22535953   PMID:22556410   PMID:22578544   PMID:22582805   PMID:22694956   PMID:22705344   PMID:22761798   PMID:22865667   PMID:22900900   PMID:22923201   PMID:22935172  
PMID:23056244   PMID:23060141   PMID:23079781   PMID:23083999   PMID:23204795   PMID:23209669   PMID:23326517   PMID:23337555   PMID:23362846   PMID:23376485   PMID:23414945   PMID:23455636  
PMID:23478260   PMID:23534868   PMID:23577725   PMID:23580433   PMID:23582991   PMID:23592924   PMID:23644223   PMID:23673665   PMID:23687431   PMID:23712470   PMID:23747913   PMID:23963851  
PMID:23979707   PMID:24013816   PMID:24080590   PMID:24356998   PMID:24493577   PMID:24535794   PMID:24846539   PMID:24854852   PMID:24865190   PMID:24907345   PMID:24979214   PMID:25002585  
PMID:25077532   PMID:25277308   PMID:25329061   PMID:25369932   PMID:25519903   PMID:25530301   PMID:25550099   PMID:25627090   PMID:25687108   PMID:25715554   PMID:25726184   PMID:25761858  
PMID:25771815   PMID:25772074   PMID:25776486   PMID:26035313   PMID:26063658   PMID:26186194   PMID:26187609   PMID:26310622   PMID:26337002   PMID:26403966   PMID:26427389   PMID:26436840  
PMID:26496610   PMID:26708185   PMID:26848857   PMID:26864869   PMID:27068509   PMID:27125063   PMID:27164673   PMID:27338780   PMID:27379525   PMID:27388476   PMID:27809811   PMID:27841854  
PMID:27879347   PMID:28076935   PMID:28327460   PMID:28432852   PMID:28514442   PMID:28583181   PMID:28586045   PMID:28604741   PMID:28628911   PMID:28642151   PMID:28659708   PMID:28667026  
PMID:28689406   PMID:28726057   PMID:28782182   PMID:28846052   PMID:28941979   PMID:28992183   PMID:29093542   PMID:29096998   PMID:29101275   PMID:29266444   PMID:29269042   PMID:29269789  
PMID:29409460   PMID:29412803   PMID:29414786   PMID:29561953   PMID:29572155   PMID:29580722   PMID:29695130   PMID:29725820   PMID:29730901   PMID:29801032   PMID:29863874   PMID:29895533  
PMID:30015931   PMID:30068478   PMID:30131069   PMID:30726710   PMID:30795802   PMID:30859180   PMID:30895599   PMID:31088682   PMID:31197037   PMID:31385385   PMID:31583032   PMID:31601092  
PMID:31658355   PMID:31753913   PMID:31884580   PMID:31970928   PMID:32017060   PMID:32218415   PMID:32328755   PMID:32345717   PMID:32486357   PMID:32814029   PMID:32838591   PMID:32878625  
PMID:32895092   PMID:33109952   PMID:33198211   PMID:33387109   PMID:33493738   PMID:33636181   PMID:33661357   PMID:33743591   PMID:34303089  


Genomics

Comparative Map Data
HTRA1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl10122,458,551 - 122,514,907 (+)EnsemblGRCh38hg38GRCh38
GRCh3810122,461,553 - 122,514,907 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh3710124,221,069 - 124,274,423 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3610124,211,047 - 124,264,413 (+)NCBINCBI36hg18NCBI36
Build 3410124,211,110 - 124,264,413NCBI
Celera10117,953,296 - 118,006,683 (+)NCBI
Cytogenetic Map10q26.13NCBI
HuRef10117,851,770 - 117,905,378 (+)NCBIHuRef
CHM1_110124,505,637 - 124,559,026 (+)NCBICHM1_1
Htra1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm397130,537,933 - 130,587,388 (+)NCBIGRCm39mm39
GRCm39 Ensembl7130,537,841 - 130,587,390 (+)Ensembl
GRCm387130,936,203 - 130,985,658 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl7130,936,111 - 130,985,660 (+)EnsemblGRCm38mm10GRCm38
MGSCv377138,079,717 - 138,129,172 (+)NCBIGRCm37mm9NCBIm37
MGSCv367130,727,377 - 130,776,801 (+)NCBImm8
Celera7130,747,058 - 130,797,116 (+)NCBICelera
Cytogenetic Map7F3NCBI
Htra1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21185,497,815 - 185,547,380 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1185,497,735 - 185,547,379 (+)Ensembl
Rnor_6.01201,499,067 - 201,548,508 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1201,499,028 - 201,548,513 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01208,532,013 - 208,581,538 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41190,257,899 - 190,308,325 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11190,407,779 - 190,458,206 (+)NCBI
Celera1183,110,143 - 183,159,496 (+)NCBICelera
Cytogenetic Map1q41NCBI
Htra1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955477761,127 - 808,994 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955477761,127 - 808,396 (+)NCBIChiLan1.0ChiLan1.0
HTRA1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.110122,437,914 - 122,495,281 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl10122,441,098 - 122,494,733 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v010119,030,409 - 119,083,682 (+)NCBIMhudiblu_PPA_v0panPan3
HTRA1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12832,133,779 - 32,157,835 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2832,132,547 - 32,157,409 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2832,180,049 - 32,232,586 (+)NCBI
ROS_Cfam_1.02832,639,924 - 32,693,737 (+)NCBI
UMICH_Zoey_3.12832,172,101 - 32,225,511 (+)NCBI
UNSW_CanFamBas_1.02832,194,497 - 32,247,262 (+)NCBI
UU_Cfam_GSD_1.02832,398,590 - 32,451,692 (+)NCBI
Htra1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721314,244,028 - 14,290,168 (-)NCBI
SpeTri2.0NW_00493648611,271,130 - 11,317,271 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HTRA1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl14132,043,006 - 132,103,595 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.114132,043,044 - 132,103,590 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.214143,497,521 - 143,558,513 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HTRA1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.19115,197,543 - 115,250,092 (+)NCBI
ChlSab1.1 Ensembl9115,197,566 - 115,253,919 (+)Ensembl
Vero_WHO_p1.0NW_02366604876,496,054 - 76,549,359 (+)NCBI
Htra1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473724,217,260 - 24,267,836 (-)NCBI

Position Markers
IB2169  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710124,274,186 - 124,274,399UniSTSGRCh37
Build 3610124,264,176 - 124,264,389RGDNCBI36
Celera10118,006,445 - 118,006,658RGD
Cytogenetic Map10q26.3UniSTS
HuRef10117,905,140 - 117,905,353UniSTS
GeneMap99-GB4 RH Map10536.55UniSTS
Whitehead-RH Map10641.3UniSTS
RH69852  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710124,228,500 - 124,228,620UniSTSGRCh37
Build 3610124,218,490 - 124,218,610RGDNCBI36
Celera10117,960,755 - 117,960,875RGD
Cytogenetic Map10q26.3UniSTS
HuRef10117,859,229 - 117,859,349UniSTS
GeneMap99-GB4 RH Map10538.37UniSTS
G20611  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710124,274,138 - 124,274,410UniSTSGRCh37
Build 3610124,264,128 - 124,264,400RGDNCBI36
Celera10118,006,397 - 118,006,669RGD
Cytogenetic Map10q26.3UniSTS
HuRef10117,905,092 - 117,905,364UniSTS
A005Z02  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710124,274,138 - 124,274,410UniSTSGRCh37
Build 3610124,264,128 - 124,264,400RGDNCBI36
Celera10118,006,397 - 118,006,669RGD
Cytogenetic Map10q26.3UniSTS
HuRef10117,905,092 - 117,905,364UniSTS
GeneMap99-GB4 RH Map10536.55UniSTS
PRSS11_3850  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710124,273,732 - 124,274,547UniSTSGRCh37
Build 3610124,263,722 - 124,264,537RGDNCBI36
Celera10118,005,991 - 118,006,806RGD
HuRef10117,904,686 - 117,905,501UniSTS
G06946  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10q26.3UniSTS
HuRef10117,905,054 - 117,905,171UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:457
Count of miRNA genes:208
Interacting mature miRNAs:214
Transcripts:ENST00000368984, ENST00000420892
Prediction methods: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.


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 119 21 1 10 44 1 1 14
Medium 2353 2148 1690 597 597 436 4012 1833 3691 412 1354 1508 167 1203 2468 3
Low 44 649 29 25 656 27 320 343 22 6 53 63 6 1 306 1 2
Below cutoff 24 70 3 1 150 1 4 10 9 1 6 32 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF070555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF097709 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF157623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI423369 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK091944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC011352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM993893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX842242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471066 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D87258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA633502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y07921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000368984   ⟹   ENSP00000357980
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl10122,461,553 - 122,514,907 (+)Ensembl
RefSeq Acc Id: ENST00000420892   ⟹   ENSP00000412676
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl10122,506,691 - 122,514,907 (+)Ensembl
RefSeq Acc Id: ENST00000648167   ⟹   ENSP00000498033
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl10122,458,551 - 122,514,894 (+)Ensembl
RefSeq Acc Id: NM_002775   ⟹   NP_002766
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810122,461,553 - 122,514,907 (+)NCBI
GRCh3710124,221,041 - 124,274,424 (+)ENTREZGENE
Build 3610124,211,047 - 124,264,413 (+)NCBI Archive
HuRef10117,851,770 - 117,905,378 (+)ENTREZGENE
CHM1_110124,505,637 - 124,559,026 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_002766   ⟸   NM_002775
- Peptide Label: precursor
- UniProtKB: Q92743 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000498033   ⟸   ENST00000648167
RefSeq Acc Id: ENSP00000357980   ⟸   ENST00000368984
RefSeq Acc Id: ENSP00000412676   ⟸   ENST00000420892
Protein Domains
IGFBP N-terminal   Kazal-like   PDZ

Promoters
RGD ID:7218863
Promoter ID:EPDNEW_H15177
Type:initiation region
Name:HTRA1_1
Description:HtrA serine peptidase 1
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
GRCh3810122,461,585 - 122,461,645EPDNEW
RGD ID:6787771
Promoter ID:HG_KWN:11478
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:NM_002775
Position:
Human AssemblyChrPosition (strand)Source
Build 3610124,210,941 - 124,211,441 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002775.5(HTRA1):c.616G>A (p.Gly206Arg) single nucleotide variant not specified [RCV000516829] Chr10:122489465 [GRCh38]
Chr10:124248981 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.883G>A (p.Gly295Arg) single nucleotide variant CARASIL syndrome [RCV000023168] Chr10:122506796 [GRCh38]
Chr10:124266312 [GRCh37]
Chr10:10q26.13
pathogenic
NM_002775.5(HTRA1):c.102C>T (p.Ala34=) single nucleotide variant CARASIL syndrome [RCV000020489]|Macular degeneration [RCV000334821]|not provided [RCV001522700] Chr10:122461754 [GRCh38]
Chr10:124221270 [GRCh37]
Chr10:10q26.13
benign|likely benign
NM_002775.5(HTRA1):c.108G>C (p.Gly36=) single nucleotide variant CARASIL syndrome [RCV000020490]|Macular degeneration [RCV000265972]|not provided [RCV001515967] Chr10:122461760 [GRCh38]
Chr10:124221276 [GRCh37]
Chr10:10q26.13
benign|likely benign
NM_002775.5(HTRA1):c.108G>T (p.Gly36=) single nucleotide variant CARASIL syndrome [RCV000020491]|Macular degeneration [RCV000313539]|not provided [RCV001522701] Chr10:122461760 [GRCh38]
Chr10:124221276 [GRCh37]
Chr10:10q26.13
benign|likely benign
NM_002775.4(HTRA1):c.-625G>A single nucleotide variant Age-related macular degeneration 7 [RCV000007914]|Susceptibility to neovascular type of age-related macular degeneration [RCV000007915] Chr10:122461028 [GRCh38]
Chr10:124220544 [GRCh37]
Chr10:10q26.13
risk factor
NM_002775.5(HTRA1):c.1108C>T (p.Arg370Ter) single nucleotide variant CARASIL syndrome [RCV000007916]|HTRA1-related cerebral small vessel disease [RCV000779017] Chr10:122508758 [GRCh38]
Chr10:124268274 [GRCh37]
Chr10:10q26.13
pathogenic|likely pathogenic
NM_002775.5(HTRA1):c.904C>T (p.Arg302Ter) single nucleotide variant CARASIL syndrome [RCV000007917]|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV001250521]|Seizures [RCV001003543]|Small vessel cerebrovascular disease [RCV001003928] Chr10:122506817 [GRCh38]
Chr10:124266333 [GRCh37]
Chr10:10q26.13
pathogenic|likely pathogenic
NM_002775.5(HTRA1):c.889G>A (p.Val297Met) single nucleotide variant CARASIL syndrome [RCV000007918] Chr10:122506802 [GRCh38]
Chr10:124266318 [GRCh37]
Chr10:10q26.13
pathogenic
NM_002775.5(HTRA1):c.754G>A (p.Ala252Thr) single nucleotide variant CARASIL syndrome [RCV000007919] Chr10:122489603 [GRCh38]
Chr10:124249119 [GRCh37]
Chr10:10q26.13
pathogenic
GRCh38/hg38 10q26.11-26.13(chr10:119273012-123117390)x3 copy number gain See cases [RCV000050701] Chr10:119273012..123117390 [GRCh38]
Chr10:121032524..124876906 [GRCh37]
Chr10:121022514..124866896 [NCBI36]
Chr10:10q26.11-26.13
pathogenic
GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3 copy number gain See cases [RCV000051218] Chr10:111313099..133620674 [GRCh38]
Chr10:113072857..135434178 [GRCh37]
Chr10:113062847..135284168 [NCBI36]
Chr10:10q25.2-26.3
pathogenic
GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1 copy number loss See cases [RCV000051103] Chr10:120454430..133620674 [GRCh38]
Chr10:122213942..135434178 [GRCh37]
Chr10:122203932..135284168 [NCBI36]
Chr10:10q26.12-26.3
pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1 copy number loss See cases [RCV000051069] Chr10:122265252..133620674 [GRCh38]
Chr10:124024767..135434178 [GRCh37]
Chr10:124014757..135284168 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] Chr10:91048545..133620674 [GRCh38]
Chr10:92808302..135434178 [GRCh37]
Chr10:92798282..135284168 [NCBI36]
Chr10:10q23.31-26.3
pathogenic
GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3 copy number gain See cases [RCV000053564] Chr10:100194215..132432797 [GRCh38]
Chr10:101953972..134246301 [GRCh37]
Chr10:101943962..134096291 [NCBI36]
Chr10:10q24.31-26.3
pathogenic
GRCh38/hg38 10q25.1-26.3(chr10:106925303-133620815)x3 copy number gain See cases [RCV000053588] Chr10:106925303..133620815 [GRCh38]
Chr10:108685061..135434319 [GRCh37]
Chr10:108675051..135284309 [NCBI36]
Chr10:10q25.1-26.3
pathogenic
GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3 copy number gain See cases [RCV000053589] Chr10:117866565..133554210 [GRCh38]
Chr10:119626076..135367714 [GRCh37]
Chr10:119616066..135217704 [NCBI36]
Chr10:10q26.11-26.3
pathogenic
NM_002775.5(HTRA1):c.753C>T (p.Ile251=) single nucleotide variant Macular degeneration [RCV000291036]|not provided [RCV000086954] Chr10:122489602 [GRCh38]
Chr10:124249118 [GRCh37]
Chr10:10q26.13
benign|likely benign|not provided
NM_002775.5(HTRA1):c.235C>T (p.Gln79Ter) single nucleotide variant CARASIL syndrome [RCV001293044] Chr10:122461887 [GRCh38]
Chr10:124221403 [GRCh37]
Chr10:10q26.13
likely pathogenic
NM_002775.5(HTRA1):c.821G>A (p.Arg274Gln) single nucleotide variant CARASIL syndrome [RCV000144147] Chr10:122506734 [GRCh38]
Chr10:124266250 [GRCh37]
Chr10:10q26.13
pathogenic
NM_002775.5(HTRA1):c.854C>T (p.Pro285Leu) single nucleotide variant CARASIL syndrome [RCV000144148]|not provided [RCV001091420] Chr10:122506767 [GRCh38]
Chr10:124266283 [GRCh37]
Chr10:10q26.13
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_002775.5(HTRA1):c.1091T>C (p.Leu364Pro) single nucleotide variant CARASIL syndrome [RCV000144149] Chr10:122508741 [GRCh38]
Chr10:124268257 [GRCh37]
Chr10:10q26.13
pathogenic
GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3 copy number gain See cases [RCV000133688] Chr10:108102587..133620674 [GRCh38]
Chr10:109862345..135434178 [GRCh37]
Chr10:109852335..135284168 [NCBI36]
Chr10:10q25.1-26.3
pathogenic
GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3 copy number gain See cases [RCV000137747] Chr10:100600492..133622588 [GRCh38]
Chr10:102360249..135436092 [GRCh37]
Chr10:102350239..135286082 [NCBI36]
Chr10:10q24.31-26.3
pathogenic
GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1 copy number loss See cases [RCV000139344] Chr10:120970558..133622588 [GRCh38]
Chr10:122730071..135436092 [GRCh37]
Chr10:122720061..135286082 [NCBI36]
Chr10:10q26.12-26.3
pathogenic
GRCh38/hg38 10q26.13(chr10:122143176-124358013)x1 copy number loss See cases [RCV000139771] Chr10:122143176..124358013 [GRCh38]
Chr10:123902691..126046582 [GRCh37]
Chr10:123892681..126036572 [NCBI36]
Chr10:10q26.13
pathogenic
GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3 copy number gain See cases [RCV000142005] Chr10:119707856..133613639 [GRCh38]
Chr10:121467368..135427143 [GRCh37]
Chr10:121457358..135277133 [NCBI36]
Chr10:10q26.11-26.3
pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1 copy number loss See cases [RCV000142441] Chr10:121588992..133620674 [GRCh38]
Chr10:123348506..135434178 [GRCh37]
Chr10:123338496..135284168 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1 copy number loss See cases [RCV000142737] Chr10:121918547..133620674 [GRCh38]
Chr10:123678062..135434178 [GRCh37]
Chr10:123668052..135284168 [NCBI36]
Chr10:10q26.13-26.3
pathogenic
NM_002775.4(HTRA1):c.961G>A single nucleotide variant CARASIL syndrome [RCV000157765]|Vascular dementia [RCV001263182] Chr10:122506874 [GRCh38]
Chr10:124266390 [GRCh37]
Chr10:10q26.13
pathogenic|uncertain significance|not provided
NM_002775.4(HTRA1):c.126delG deletion CARASIL syndrome [RCV000157766] Chr10:122461778 [GRCh38]
Chr10:124221294 [GRCh37]
Chr10:10q26.13
pathogenic|not provided
NM_002775.5(HTRA1):c.472+4990G>T single nucleotide variant not provided [RCV000190309] Chr10:122467114 [GRCh38]
Chr10:124226630 [GRCh37]
Chr10:10q26.13
not provided
GRCh37/hg19 10q26.12-26.2(chr10:122239239-128203032)x1 copy number loss See cases [RCV000240153] Chr10:122239239..128203032 [GRCh37]
Chr10:10q26.12-26.2
pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:123731209-135353867)x1 copy number loss See cases [RCV000203440] Chr10:123731209..135353867 [GRCh37]
Chr10:10q26.13-26.3
pathogenic|likely pathogenic
NM_002775.5(HTRA1):c.852C>A (p.Ser284Arg) single nucleotide variant Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000206899] Chr10:122506765 [GRCh38]
Chr10:124266281 [GRCh37]
Chr10:10q26.13
pathogenic
NM_002775.5(HTRA1):c.497G>T (p.Arg166Leu) single nucleotide variant Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000206925] Chr10:122488926 [GRCh38]
Chr10:124248442 [GRCh37]
Chr10:10q26.13
pathogenic
NM_002775.5(HTRA1):c.973-1G>A single nucleotide variant Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000206946] Chr10:122507369 [GRCh38]
Chr10:124266885 [GRCh37]
Chr10:10q26.13
pathogenic
NM_002775.5(HTRA1):c.517G>C (p.Ala173Pro) single nucleotide variant Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000206984] Chr10:122488946 [GRCh38]
Chr10:124248462 [GRCh37]
Chr10:10q26.13
pathogenic
GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3 copy number gain See cases [RCV000240457] Chr10:103288313..135512075 [GRCh37]
Chr10:10q24.32-26.3
pathogenic
NM_002775.5(HTRA1):c.385C>T (p.Leu129=) single nucleotide variant Macular degeneration [RCV000285342] Chr10:122462037 [GRCh38]
Chr10:124221553 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.843C>T (p.Ala281=) single nucleotide variant Macular degeneration [RCV000346013] Chr10:122506756 [GRCh38]
Chr10:124266272 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.472+6C>A single nucleotide variant Macular degeneration [RCV000326266]|not provided [RCV000923031] Chr10:122462130 [GRCh38]
Chr10:124221646 [GRCh37]
Chr10:10q26.13
likely benign|uncertain significance
NM_002775.5(HTRA1):c.1260T>A (p.Asp420Glu) single nucleotide variant Macular degeneration [RCV000352185] Chr10:122512051 [GRCh38]
Chr10:124271567 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.879C>T (p.Thr293=) single nucleotide variant Macular degeneration [RCV000400395]|not provided [RCV000761751]|not specified [RCV000517598] Chr10:122506792 [GRCh38]
Chr10:124266308 [GRCh37]
Chr10:10q26.13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002775.5(HTRA1):c.*191G>T single nucleotide variant Macular degeneration [RCV000353453] Chr10:122514550 [GRCh38]
Chr10:124274066 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.245C>G (p.Pro82Arg) single nucleotide variant Macular degeneration [RCV000379814]|not provided [RCV001172043] Chr10:122461897 [GRCh38]
Chr10:124221413 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.1221C>T (p.Asp407=) single nucleotide variant Macular degeneration [RCV000292204]|not provided [RCV000894560] Chr10:122512012 [GRCh38]
Chr10:124271528 [GRCh37]
Chr10:10q26.13
benign|likely benign
NM_002775.5(HTRA1):c.473-8G>T single nucleotide variant Macular degeneration [RCV000380837]|not provided [RCV000901659] Chr10:122488894 [GRCh38]
Chr10:124248410 [GRCh37]
Chr10:10q26.13
benign|likely benign
NM_002775.5(HTRA1):c.*446G>A single nucleotide variant Macular degeneration [RCV000359140] Chr10:122514805 [GRCh38]
Chr10:124274321 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.1274+14G>A single nucleotide variant Macular degeneration [RCV000298544]|not provided [RCV001518133]|not specified [RCV001530169] Chr10:122512079 [GRCh38]
Chr10:124271595 [GRCh37]
Chr10:10q26.13
benign|likely benign
NM_002775.5(HTRA1):c.1274+8G>A single nucleotide variant Macular degeneration [RCV000391119]|not provided [RCV000711024]|not specified [RCV001528818] Chr10:122512073 [GRCh38]
Chr10:124271589 [GRCh37]
Chr10:10q26.13
benign|likely benign
NM_002775.5(HTRA1):c.*296C>G single nucleotide variant Macular degeneration [RCV000299709] Chr10:122514655 [GRCh38]
Chr10:124274171 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.33_34insTCC (p.Leu12_Leu13insSer) insertion Macular degeneration [RCV000354631]|not provided [RCV001091417] Chr10:122461685..122461686 [GRCh38]
Chr10:124221201..124221202 [GRCh37]
Chr10:10q26.13
likely benign|uncertain significance
NM_002775.5(HTRA1):c.523G>A (p.Val175Met) single nucleotide variant not specified [RCV000518743] Chr10:122488952 [GRCh38]
Chr10:124248468 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.451C>T (p.Gln151Ter) single nucleotide variant not provided [RCV000487710] Chr10:122462103 [GRCh38]
Chr10:124221619 [GRCh37]
Chr10:10q26.13
likely pathogenic
NM_002775.5(HTRA1):c.888C>G (p.Ile296Met) single nucleotide variant not provided [RCV000585556] Chr10:122506801 [GRCh38]
Chr10:124266317 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.957C>T (p.Thr319=) single nucleotide variant not provided [RCV000488019] Chr10:122506870 [GRCh38]
Chr10:124266386 [GRCh37]
Chr10:10q26.13
conflicting interpretations of pathogenicity|uncertain significance
NM_002775.5(HTRA1):c.-57C>A single nucleotide variant Macular degeneration [RCV000313936] Chr10:122461596 [GRCh38]
Chr10:124221112 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.415T>G (p.Ser139Ala) single nucleotide variant not specified [RCV000517689] Chr10:122462067 [GRCh38]
Chr10:124221583 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.59C>T (p.Ala20Val) single nucleotide variant CARASIL syndrome [RCV000576298]|Macular degeneration [RCV000259894]|not provided [RCV001511034] Chr10:122461711 [GRCh38]
Chr10:124221227 [GRCh37]
Chr10:10q26.13
benign|likely benign
NM_002775.5(HTRA1):c.*217T>A single nucleotide variant Macular degeneration [RCV000391126] Chr10:122514576 [GRCh38]
Chr10:124274092 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_001099667.3(ARMS2):c.298-14_298-13insG insertion Macular degeneration [RCV000271292] Chr10:122456893..122456894 [GRCh38]
Chr10:124216409..124216410 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.77G>A (p.Arg26Gln) single nucleotide variant Macular degeneration [RCV000279664]|not provided [RCV000711026] Chr10:122461729 [GRCh38]
Chr10:124221245 [GRCh37]
Chr10:10q26.13
benign|likely benign
NM_001099667.3(ARMS2):c.298-4del deletion Macular degeneration [RCV000287310] Chr10:122456895 [GRCh38]
Chr10:124216411 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.267C>A (p.Cys89Ter) single nucleotide variant not provided [RCV000599520] Chr10:122461919 [GRCh38]
Chr10:124221435 [GRCh37]
Chr10:10q26.13
likely pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972)x3 copy number gain See cases [RCV000449169] Chr10:122125760..135062972 [GRCh37]
Chr10:10q26.12-26.3
likely pathogenic
GRCh37/hg19 10q26.13-26.3(chr10:124147428-135370736)x1 copy number loss See cases [RCV000449336] Chr10:124147428..135370736 [GRCh37]
Chr10:10q26.13-26.3
pathogenic
GRCh37/hg19 10q24.32-26.3(chr10:104633712-135427143)x3 copy number gain See cases [RCV000449386] Chr10:104633712..135427143 [GRCh37]
Chr10:10q24.32-26.3
pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143)x1 copy number loss See cases [RCV000446095] Chr10:122343861..135427143 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
GRCh37/hg19 10q24.2-26.3(chr10:100780957-135427143)x3 copy number gain See cases [RCV000446733] Chr10:100780957..135427143 [GRCh37]
Chr10:10q24.2-26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic|uncertain significance
GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3 copy number gain See cases [RCV000510813] Chr10:106003533..135427143 [GRCh37]
Chr10:10q25.1-26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 copy number gain See cases [RCV000510972] Chr10:93283493..135427143 [GRCh37]
Chr10:10q23.32-26.3
pathogenic
NM_002775.5(HTRA1):c.543del (p.Ala182fs) deletion Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000627025] Chr10:122488972 [GRCh38]
Chr10:124248488 [GRCh37]
Chr10:10q26.13
pathogenic
NM_002775.5(HTRA1):c.767T>C (p.Ile256Thr) single nucleotide variant Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000627026] Chr10:122489616 [GRCh38]
Chr10:124249132 [GRCh37]
Chr10:10q26.13
pathogenic
NM_002775.5(HTRA1):c.971A>C (p.Asn324Thr) single nucleotide variant Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000627029] Chr10:122506884 [GRCh38]
Chr10:124266400 [GRCh37]
Chr10:10q26.13
likely pathogenic
NM_002775.5(HTRA1):c.359G>A (p.Gly120Asp) single nucleotide variant Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000627023] Chr10:122462011 [GRCh38]
Chr10:124221527 [GRCh37]
Chr10:10q26.13
likely pathogenic
NM_002775.5(HTRA1):c.536T>A (p.Ile179Asn) single nucleotide variant Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000627024] Chr10:122488965 [GRCh38]
Chr10:124248481 [GRCh37]
Chr10:10q26.13
likely pathogenic
NM_002775.5(HTRA1):c.865C>T (p.Gln289Ter) single nucleotide variant Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000627028] Chr10:122506778 [GRCh38]
Chr10:124266294 [GRCh37]
Chr10:10q26.13
pathogenic
NM_002775.5(HTRA1):c.589C>T (p.Arg197Ter) single nucleotide variant not provided [RCV000512888] Chr10:122489438 [GRCh38]
Chr10:124248954 [GRCh37]
Chr10:10q26.13
pathogenic|likely pathogenic
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3
drug response
NM_002775.5(HTRA1):c.573-8G>A single nucleotide variant not provided [RCV000513477] Chr10:122489414 [GRCh38]
Chr10:124248930 [GRCh37]
Chr10:10q26.13
conflicting interpretations of pathogenicity|uncertain significance
NM_002775.5(HTRA1):c.827G>C (p.Gly276Ala) single nucleotide variant Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV000627027] Chr10:122506740 [GRCh38]
Chr10:124266256 [GRCh37]
Chr10:10q26.13
likely pathogenic
NM_002775.5(HTRA1):c.614C>G (p.Ser205Cys) single nucleotide variant CARASIL syndrome [RCV000678044] Chr10:122489463 [GRCh38]
Chr10:124248979 [GRCh37]
Chr10:10q26.13
pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:122509781-135427143)x1 copy number loss not provided [RCV000683287] Chr10:122509781..135427143 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
GRCh37/hg19 10q26.12-26.3(chr10:123019239-135427143)x1 copy number loss not provided [RCV000683286] Chr10:123019239..135427143 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3 copy number gain not provided [RCV000683290] Chr10:105613040..135427143 [GRCh37]
Chr10:10q24.33-26.3
pathogenic
GRCh37/hg19 10q26.11-26.3(chr10:121269222-135427143)x3 copy number gain not provided [RCV000683288] Chr10:121269222..135427143 [GRCh37]
Chr10:10q26.11-26.3
pathogenic
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 copy number gain not provided [RCV000683291] Chr10:94346520..135427143 [GRCh37]
Chr10:10q23.33-26.3
pathogenic
NM_002775.5(HTRA1):c.517G>T (p.Ala173Ser) single nucleotide variant not provided [RCV000711025] Chr10:122488946 [GRCh38]
Chr10:124248462 [GRCh37]
Chr10:10q26.13
uncertain significance
GRCh37/hg19 10q26.12-26.3(chr10:122443197-135477883)x1 copy number loss not provided [RCV000737305] Chr10:122443197..135477883 [GRCh37]
Chr10:10q26.12-26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3
pathogenic
NM_002775.5(HTRA1):c.31CTG[7] (p.Leu16dup) microsatellite not provided [RCV000991733] Chr10:122461681..122461682 [GRCh38]
Chr10:124221197..124221198 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.884G>A (p.Gly295Glu) single nucleotide variant not provided [RCV000991734] Chr10:122506797 [GRCh38]
Chr10:124266313 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.1350C>T (p.Asp450=) single nucleotide variant Macular degeneration [RCV001102842]|not provided [RCV000915305] Chr10:122514266 [GRCh38]
Chr10:124273782 [GRCh37]
Chr10:10q26.13
likely benign|uncertain significance
NM_002775.5(HTRA1):c.465C>T (p.Cys155=) single nucleotide variant not provided [RCV000982558] Chr10:122462117 [GRCh38]
Chr10:124221633 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.96T>G (p.Pro32=) single nucleotide variant not provided [RCV000902336] Chr10:122461748 [GRCh38]
Chr10:124221264 [GRCh37]
Chr10:10q26.13
likely benign
GRCh37/hg19 10q25.3-26.13(chr10:117024753-124942806) copy number loss Chromosome 10q26 deletion syndrome [RCV000767564] Chr10:117024753..124942806 [GRCh37]
Chr10:10q25.3-26.13
pathogenic
GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095) copy number gain not provided [RCV000767665] Chr10:110022170..135439095 [GRCh37]
Chr10:10q25.1-26.3
pathogenic
NM_002775.5(HTRA1):c.337G>T (p.Ala113Ser) single nucleotide variant Macular degeneration [RCV001104660]|not provided [RCV000888759] Chr10:122461989 [GRCh38]
Chr10:124221505 [GRCh37]
Chr10:10q26.13
benign
NM_002775.5(HTRA1):c.846C>T (p.Ile282=) single nucleotide variant not provided [RCV000921674] Chr10:122506759 [GRCh38]
Chr10:124266275 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.1094C>T (p.Thr365Met) single nucleotide variant Macular degeneration [RCV001108056]|not provided [RCV000906260] Chr10:122508744 [GRCh38]
Chr10:124268260 [GRCh37]
Chr10:10q26.13
likely benign
GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3 copy number gain not provided [RCV000847820] Chr10:114544537..135427143 [GRCh37]
Chr10:10q25.2-26.3
pathogenic
NM_002775.5(HTRA1):c.144G>T (p.Pro48=) single nucleotide variant not provided [RCV000981819] Chr10:122461796 [GRCh38]
Chr10:124221312 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.180C>T (p.Asp60=) single nucleotide variant not provided [RCV000916279] Chr10:122461832 [GRCh38]
Chr10:124221348 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.1416A>T (p.Thr472=) single nucleotide variant not provided [RCV000917208] Chr10:122514332 [GRCh38]
Chr10:124273848 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.844A>C (p.Ile282Leu) single nucleotide variant Macular degeneration [RCV001108055] Chr10:122506757 [GRCh38]
Chr10:124266273 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.973-7A>T single nucleotide variant not provided [RCV000918460] Chr10:122507363 [GRCh38]
Chr10:124266879 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.351G>T (p.Pro117=) single nucleotide variant not provided [RCV000909847] Chr10:122462003 [GRCh38]
Chr10:124221519 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.1065C>T (p.Ile355=) single nucleotide variant not provided [RCV000885790] Chr10:122508715 [GRCh38]
Chr10:124268231 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.578C>T (p.Pro193Leu) single nucleotide variant Macular degeneration [RCV001105822] Chr10:122489427 [GRCh38]
Chr10:124248943 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.*460C>T single nucleotide variant Macular degeneration [RCV001102843] Chr10:122514819 [GRCh38]
Chr10:124274335 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.34C>T (p.Leu12=) single nucleotide variant Macular degeneration [RCV001102736]|not provided [RCV001091418] Chr10:122461686 [GRCh38]
Chr10:124221202 [GRCh37]
Chr10:10q26.13
likely benign|uncertain significance
NM_002775.5(HTRA1):c.1425C>T (p.Pro475=) single nucleotide variant not provided [RCV000933828] Chr10:122514341 [GRCh38]
Chr10:124273857 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.323G>T (p.Gly108Val) single nucleotide variant not provided [RCV000994522] Chr10:122461975 [GRCh38]
Chr10:124221491 [GRCh37]
Chr10:10q26.13
uncertain significance
GRCh37/hg19 10q26.11-26.3(chr10:119996339-135427143)x3 copy number gain not provided [RCV001006356] Chr10:119996339..135427143 [GRCh37]
Chr10:10q26.11-26.3
pathogenic
NM_002775.5(HTRA1):c.133C>T (p.Arg45Cys) single nucleotide variant Macular degeneration [RCV001104658] Chr10:122461785 [GRCh38]
Chr10:124221301 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.176G>C (p.Arg59Pro) single nucleotide variant Macular degeneration [RCV001104659] Chr10:122461828 [GRCh38]
Chr10:124221344 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.770A>C (p.Asp257Ala) single nucleotide variant Macular degeneration [RCV001105823] Chr10:122489619 [GRCh38]
Chr10:124249135 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.847G>A (p.Gly283Arg) single nucleotide variant not provided [RCV001543535] Chr10:122506760 [GRCh38]
Chr10:124266276 [GRCh37]
Chr10:10q26.13
likely pathogenic
NM_002775.5(HTRA1):c.660C>G (p.His220Gln) single nucleotide variant CARASIL syndrome [RCV001090042] Chr10:122489509 [GRCh38]
Chr10:124249025 [GRCh37]
Chr10:10q26.13
likely pathogenic
NM_002775.5(HTRA1):c.840C>A (p.Val280=) single nucleotide variant Macular degeneration [RCV001105826] Chr10:122506753 [GRCh38]
Chr10:124266269 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.777+14C>T single nucleotide variant Macular degeneration [RCV001105824] Chr10:122489640 [GRCh38]
Chr10:124249156 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.834C>T (p.Phe278=) single nucleotide variant Macular degeneration [RCV001105825] Chr10:122506747 [GRCh38]
Chr10:124266263 [GRCh37]
Chr10:10q26.13
likely benign
NM_002775.5(HTRA1):c.12G>T (p.Pro4=) single nucleotide variant Macular degeneration [RCV001102735] Chr10:122461664 [GRCh38]
Chr10:124221180 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.10C>T (p.Pro4Ser) single nucleotide variant Macular degeneration [RCV001102734] Chr10:122461662 [GRCh38]
Chr10:124221178 [GRCh37]
Chr10:10q26.13
uncertain significance
GRCh37/hg19 10q26.13(chr10:123232922-124638514)x3 copy number gain not provided [RCV001006357] Chr10:123232922..124638514 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.1333G>A (p.Ala445Thr) single nucleotide variant CARASIL syndrome [RCV001328991]|Macular degeneration [RCV001102841] Chr10:122514249 [GRCh38]
Chr10:124273765 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.451C>A (p.Gln151Lys) single nucleotide variant Macular degeneration [RCV001104661]|not provided [RCV001091419] Chr10:122462103 [GRCh38]
Chr10:124221619 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.138C>A (p.Cys46Ter) single nucleotide variant Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV001253237] Chr10:122461790 [GRCh38]
Chr10:124221306 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.835G>A (p.Val279Met) single nucleotide variant Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV001255607] Chr10:122506748 [GRCh38]
Chr10:124266264 [GRCh37]
Chr10:10q26.13
uncertain significance
GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3 copy number gain not provided [RCV001537903] Chr10:118247181..135435319 [GRCh37]
Chr10:10q25.3-26.3
pathogenic
NM_002775.5(HTRA1):c.529_531del (p.Glu177del) deletion not provided [RCV001288907] Chr10:122488957..122488959 [GRCh38]
Chr10:124248473..124248475 [GRCh37]
Chr10:10q26.13
uncertain significance
Single allele deletion not provided [RCV001391678] Chr10:119302758..124813305 [GRCh37]
Chr10:10q26.11-26.13
likely pathogenic
NM_002775.5(HTRA1):c.1394_1395del (p.Gly465fs) deletion not provided [RCV001310580] Chr10:122514310..122514311 [GRCh38]
Chr10:124273826..124273827 [GRCh37]
Chr10:10q26.13
uncertain significance
NM_002775.5(HTRA1):c.820C>G (p.Arg274Gly) single nucleotide variant Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 [RCV001542097] Chr10:122506733 [GRCh38]
Chr10:124266249 [GRCh37]
Chr10:10q26.13
likely pathogenic
NM_002775.5(HTRA1):c.1178+18G>A single nucleotide variant not provided [RCV001509661] Chr10:122510171 [GRCh38]
Chr10:124269687 [GRCh37]
Chr10:10q26.13
benign
NM_002775.5(HTRA1):c.778-20G>A single nucleotide variant not provided [RCV001516140] Chr10:122506671 [GRCh38]
Chr10:124266187 [GRCh37]
Chr10:10q26.13
benign
GRCh37/hg19 10q26.12-26.3(chr10:122785023-135457222)x1 copy number loss See cases [RCV001526488] Chr10:122785023..135457222 [GRCh37]
Chr10:10q26.12-26.3
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9476 AgrOrtholog
COSMIC HTRA1 COSMIC
Ensembl Genes ENSG00000166033 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000357980 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000412676 UniProtKB/TrEMBL
  ENSP00000498033 UniProtKB/TrEMBL
Ensembl Transcript ENST00000368984 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000420892 UniProtKB/TrEMBL
  ENST00000648167 UniProtKB/TrEMBL
Gene3D-CATH 2.30.42.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000166033 GTEx
HGNC ID HGNC:9476 ENTREZGENE
Human Proteome Map HTRA1 Human Proteome Map
InterPro Growth_fac_rcpt_cys_sf UniProtKB/Swiss-Prot
  IGFBP-like UniProtKB/Swiss-Prot
  Kazal_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Kazal_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ_6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1_PA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5654 UniProtKB/Swiss-Prot
NCBI Gene 5654 ENTREZGENE
OMIM 600142 OMIM
  602194 OMIM
  610149 OMIM
  616779 OMIM
Pfam IGFBP UniProtKB/Swiss-Prot
  Kazal_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ_6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33829 PharmGKB
PRINTS PROTEASES2C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE IGFBP_N_2 UniProtKB/Swiss-Prot
  KAZAL_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART KAZAL UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PDZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00121 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF100895 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50156 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF50494 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57184 UniProtKB/Swiss-Prot
UniProt A0A3B3IU24_HUMAN UniProtKB/TrEMBL
  H0Y7G9_HUMAN UniProtKB/TrEMBL
  HTRA1_HUMAN UniProtKB/Swiss-Prot
  Q05DJ8_HUMAN UniProtKB/TrEMBL
  Q92743 ENTREZGENE
UniProt Secondary D3DRE4 UniProtKB/Swiss-Prot
  Q9UNS5 UniProtKB/Swiss-Prot