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GeneE
27 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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HTRA1
HtrA serine peptidase 1
Chromosome 10 Β· 10q26.13
NCBI Gene: 5654Ensembl: ENSG00000166033.14HGNC: HGNC:9476UniProt: Q92743
355PubMed Papers
22Diseases
0Drugs
39Pathogenic Variants
FUNCTIONAL ROLE
Protease
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingextracellular matrixidentical protein bindingextracellular exosomecerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2CARASILCARASIL syndromeage-related macular degeneration
✦AI Summary

HTRA1 is a serine protease with diverse extracellular and intracellular functions. As a serine-type endopeptidase, it degrades multiple extracellular matrix proteins including fibronectin, proteoglycans (aggrecan, decorin, fibromodulin), and fibrillar tau 1. HTRA1-generated fibronectin fragments stimulate synovial cells to upregulate MMP1 and MMP3 production. The protease regulates growth factor signaling by cleaving IGF-binding proteins and inhibiting TGF-Ξ² family signaling; loss-of-function mutations show decreased protease activity and failed TGF-Ξ² repression 2. Intracellularly, HTRA1 degrades TSC2, activating downstream targets, and can disaggregate Ξ±-synuclein amyloid fibrils in a protease-independent manner 1. HTRA1 mutations cause cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) and contribute to autosomal dominant cerebral small-vessel disease 23. In large population studies, HTRA1 carriers show increased stroke risk and all-cause dementia risk (OR 2.17) 4, with distinct blood-brain barrier dysfunction patterns including both elevated gadolinium leakage and reduced water exchange rates 5. HTRA1 also operates in tumor-immune suppression, where tumor-derived extracellular vesicles carrying HTRA1 upregulate MMP-13 in osteoprogenitors, disrupting hematopoiesis 6.

Sources cited
1
HTRA1 mutations cause CARASIL; decreased protease activity and failed TGF-Ξ² repression characterize disease-associated variants
PMID: 21301034
2
HTRA1 mutations are established cause of monogenic cerebral small-vessel disease requiring genetic testing and clinical management
PMID: 32196841
3
HTRA1 mutations represent 5% of genetically confirmed leukoencephalopathies in adult patients and account for 13% of leukovasculopathies
PMID: 36380532
4
HTRA1-related cSVD exhibits both higher gadolinium leakage (Ktrans) and lower water exchange rate (kw), indicating combined BBB dysfunction
PMID: 38787758
5
Tumor-derived extracellular vesicles carrying HTRA1 upregulate MMP-13 in osteoprogenitors, inducing immunosuppressive cell overproduction
PMID: 37146584
6
HTRA1 disaggregates Ξ±-synuclein fibrils through protease-independent mechanism and prevents seeding of endogenous Ξ±-synuclein aggregation
PMID: 38499535
7
HTRA1 homozygous carriers show high frequency of white matter lesions (100%) and cognitive features (64%); heterozygotes show 52% stroke frequency
PMID: 35699195
8
HTRA1 carriers in general population show 66% increased stroke likelihood and 2.17-fold increased all-cause dementia risk; cardiovascular risk burden modifies penetrance
PMID: 36300346
Disease Associationsβ“˜22
cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2Open Targets
0.76Strong
CARASILOpen Targets
0.76Strong
CARASIL syndromeOpen Targets
0.74Strong
age-related macular degenerationOpen Targets
0.66Moderate
macular degenerationOpen Targets
0.60Moderate
age related macular degeneration 7Open Targets
0.55Moderate
HTRA1-related autosomal dominant cerebral small vessel diseaseOpen Targets
0.52Moderate
degeneration of macula and posterior poleOpen Targets
0.52Moderate
coronary artery diseaseOpen Targets
0.51Moderate
wet macular degenerationOpen Targets
0.51Moderate
COVID-19Open Targets
0.50Moderate
Myocardial IschemiaOpen Targets
0.48Moderate
HTRA1-related cerebral small vessel diseaseOpen Targets
0.47Moderate
retinopathyOpen Targets
0.46Moderate
coronary atherosclerosisOpen Targets
0.46Moderate
Back painOpen Targets
0.45Moderate
cerebral small vessel diseaseOpen Targets
0.44Moderate
Cognitive impairmentOpen Targets
0.43Moderate
osteoarthritis, hipOpen Targets
0.43Moderate
dry age related macular degenerationOpen Targets
0.40Moderate
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, 2UniProt
Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2UniProt
Pathogenic Variants39
NM_002775.5(HTRA1):c.904C>T (p.Arg302Ter)Pathogenic
CARASIL syndrome|Personality changes;Cognitive impairment;Seizure|Small vessel cerebrovascular disease|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 302
NM_002775.5(HTRA1):c.972+1G>APathogenic
not provided|Age related macular degeneration 7
β˜…β˜…β˜†β˜†2025
NM_002775.5(HTRA1):c.497G>T (p.Arg166Leu)Pathogenic
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 166
NM_002775.5(HTRA1):c.497G>A (p.Arg166His)Likely pathogenic
not provided|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2;CARASIL syndrome|Cerebral arterial disease
β˜…β˜…β˜†β˜†2025β†’ Residue 166
NM_002775.5(HTRA1):c.496C>T (p.Arg166Cys)Pathogenic
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 166
NM_002775.5(HTRA1):c.184_185del (p.Cys62fs)Pathogenic
not provided|HTRA1-related autosomal dominant cerebral small vessel disease
β˜…β˜…β˜†β˜†2025β†’ Residue 62
NM_002775.5(HTRA1):c.267C>A (p.Cys89Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 89
NM_002775.5(HTRA1):c.847G>A (p.Gly283Arg)Pathogenic
not provided|Vascular dementia|HTRA1-related cerebral small vessel disease|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
β˜…β˜…β˜†β˜†2025β†’ Residue 283
NM_002775.5(HTRA1):c.883G>A (p.Gly295Arg)Pathogenic
CARASIL syndrome|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 295
NM_002775.5(HTRA1):c.1156C>T (p.Arg386Ter)Pathogenic
HTRA1-related disorder|CARASIL syndrome|HTRA1-related cerebral small vessel disease
β˜…β˜…β˜†β˜†2024β†’ Residue 386
NM_002775.5(HTRA1):c.1108C>T (p.Arg370Ter)Pathogenic
CARASIL syndrome|HTRA1-related cerebral small vessel disease|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 370
NM_002775.5(HTRA1):c.543del (p.Ala182fs)Pathogenic
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 182
NM_002775.5(HTRA1):c.905G>A (p.Arg302Gln)Pathogenic
CARASIL syndrome|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 302
NM_002775.5(HTRA1):c.865C>T (p.Gln289Ter)Pathogenic
Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2|not provided
β˜…β˜…β˜†β˜†2021β†’ Residue 289
NM_002775.5(HTRA1):c.547G>A (p.Val183Met)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 183
NM_002775.5(HTRA1):c.889G>A (p.Val297Met)Pathogenic
CARASIL syndrome|not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 297
NM_002775.5(HTRA1):c.89C>A (p.Ser30Ter)Pathogenic
HTRA1-related autosomal dominant cerebral small vessel disease
β˜…β˜†β˜†β˜†2025β†’ Residue 30
NM_002775.5(HTRA1):c.754G>A (p.Ala252Thr)Pathogenic
CARASIL syndrome|Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2
β˜…β˜†β˜†β˜†2025β†’ Residue 252
NM_002775.5(HTRA1):c.1120+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_002775.5(HTRA1):c.777+1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
View on ClinVar β†—
Related Genes
ARMS2Protein interaction95%PLEKHA1Protein interaction85%ACANProtein interaction84%XIAPProtein interaction81%CFHProtein interaction78%HTRA4Shared pathway75%
Tissue Expression6 tissues
Ovary
100%
Liver
50%
Brain
50%
Heart
41%
Lung
11%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
HTRA1ARMS2PLEKHA1ACANXIAPCFHHTRA4
PROTEIN STRUCTURE
Preparing viewer…
PDB3TJQ Β· 2.00 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.87LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.60 [0.41–0.87]
RankingsWhere HTRA1 stands among ~20K protein-coding genes
  • #870of 20,598
    Most Researched355 Β· top 5%
  • #1,556of 5,498
    Most Pathogenic Variants39
  • #7,704of 17,882
    Most Constrained (LOEUF)0.87
Genes detectedHTRA1
Sources retrieved27 papers
Response timeβ€”
πŸ“„ Sources
27β–Ό
1
Monogenic cerebral small-vessel diseases: diagnosis and therapy. Consensus recommendations of the European Academy of Neurology.
PMID: 32196841
Eur J Neurol Β· 2020
1.00
2
The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients.
PMID: 36380532
Brain Β· 2023
0.90
3
Heterogeneous blood-brain barrier dysfunction in cerebral small vessel diseases.
PMID: 38787758
Alzheimers Dement Β· 2024
0.80
4
Report of two pedigrees with heterozygousΒ HTRA1 variants-related cerebral small vessel disease and literature review.
PMID: 35946346
Mol Genet Genomic Med Β· 2022
0.80
5
Osteoprogenitor-GMP crosstalk underpins solid tumor-induced systemic immunosuppression and persists after tumor removal.
PMID: 37146584
Cell Stem Cell Β· 2023
0.70