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GeneE
27 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
CSTB
cystatin B
Chromosome 21 Β· 21q22.3
NCBI Gene: 1476Ensembl: ENSG00000160213.11HGNC: HGNC:2482UniProt: P04080
168PubMed Papers
21Diseases
0Drugs
21Pathogenic Variants
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protease bindingRNA bindingendopeptidase inhibitor activitycysteine-type endopeptidase inhibitor activityUnverricht-Lundborg diseaseUnverricht-Lundborg syndromeProgressive myoclonic epilepsygenetic disorder
✦AI Summary

CSTB (cystatin B) is an intracellular cysteine proteinase inhibitor that reversibly binds and inhibits cathepsins L, H, and B. Located on chromosome 21, CSTB functions as a negative regulator of proteolysis and is distributed across multiple cellular compartments including the cytoplasm, nucleus, and extracellular regions 1. The primary disease association is Unverricht-Lundborg disease (progressive myoclonus epilepsy type 1), caused by dodecamer repeat expansions in the CSTB promoter that dramatically reduce gene expression 2. CSTB-deficient models reveal diverse pathogenic mechanisms beyond protease inhibition, including altered glial activation, oxidative stress regulation, and neuronal hyperexcitability 1. Recent gene replacement therapy using AAV9-delivered CSTB in knockout mice significantly improved neuroinflammatory markers, cerebellar apoptosis, and motor function, supporting therapeutic potential 2. Beyond neurological disease, CSTB emerges as a hub gene in metabolic and infectious contexts. It was identified as one of three hub genes shared between sarcopenia and type 2 diabetes pathogenesis 3. In pancreatic cancer, CSTB orchestrates autophagy and glycolysis by sustaining cathepsin B proteolytic activity, promoting tumor cell survival 4. CSTB expression is significantly decreased during Zika virus placental infection, correlating with increased inflammation and fetal transmission 5. Additionally, elevated plasma CSTB following aerobic exercise training correlates with improved cognitive performance in adults at Alzheimer's disease risk 6.

Sources cited
1
CSTB causes Unverricht-Lundborg disease; functions as protease inhibitor and regulates glial activation, oxidative stress, and neuronal hyperexcitability
PMID: 27582036
2
CSTB gene replacement via AAV9 improves neuroinflammation, neurodegeneration, and motor function in EPM1 mouse models
PMID: 38135787
3
CSTB identified as hub gene shared between sarcopenia and type 2 diabetes mellitus pathogenesis
PMID: 35271662
4
CSTB sustains cathepsin B proteolytic activity to increase autophagic flux and glycolysis in pancreatic cancer cells
PMID: 36495123
5
CSTB expression is significantly decreased in Zika virus-infected placentas, associated with increased inflammation and fetal infection
PMID: 36429055
6
Elevated plasma CSTB after aerobic exercise training correlates with improved cognitive performance in adults at Alzheimer's disease risk
PMID: 34093436
Disease Associationsβ“˜21
Unverricht-Lundborg diseaseOpen Targets
0.81Strong
Unverricht-Lundborg syndromeOpen Targets
0.81Strong
Progressive myoclonic epilepsyOpen Targets
0.55Moderate
genetic disorderOpen Targets
0.50Moderate
DyskinesiaOpen Targets
0.43Moderate
autosomal recessive hypohidrotic ectodermal dysplasiaOpen Targets
0.37Weak
microcephalyOpen Targets
0.34Weak
DystoniaOpen Targets
0.34Weak
EncephalopathyOpen Targets
0.34Weak
Aplasia/Hypoplasia of the corpus callosumOpen Targets
0.34Weak
Cerebral dysmyelinationOpen Targets
0.34Weak
dystonic disorderOpen Targets
0.34Weak
Global brain atrophyOpen Targets
0.34Weak
Motor delayOpen Targets
0.34Weak
Progressive microcephalyOpen Targets
0.34Weak
Severe global developmental delayOpen Targets
0.34Weak
Severe intellectual disabilityOpen Targets
0.34Weak
choreaOpen Targets
0.33Weak
Rolandic epilepsyOpen Targets
0.33Weak
self-limited epilepsy with centrotemporal spikesOpen Targets
0.33Weak
Epilepsy, progressive myoclonic 1UniProt
Pathogenic Variants21
NM_000100.4(CSTB):c.67-1G>CPathogenic
Unverricht-Lundborg syndrome|not provided|Inborn genetic diseases|Progressive myoclonic epilepsy|Dyskinesia;Chorea|Microcephaly;Cerebral dysmyelination;Encephalopathy|Hepatocellular carcinoma
β˜…β˜…β˜†β˜†2025
NM_000100.4(CSTB):c.136C>T (p.Gln46Ter)Pathogenic
not provided|Unverricht-Lundborg syndrome|Inborn genetic diseases|Progressive myoclonic epilepsy
β˜…β˜…β˜†β˜†2025β†’ Residue 46
NM_000100.4(CSTB):c.218_219del (p.Leu73fs)Pathogenic
Unverricht-Lundborg syndrome|not provided|Inborn genetic diseases|Progressive myoclonic epilepsy
β˜…β˜…β˜†β˜†2025β†’ Residue 73
NM_000100.4(CSTB):c.202C>T (p.Arg68Ter)Pathogenic
Unverricht-Lundborg syndrome|8 conditions|Self-limited epilepsy with centrotemporal spikes|Progressive myoclonic epilepsy|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 68
NM_000100.4(CSTB):c.64C>T (p.Gln22Ter)Pathogenic
Progressive myoclonic epilepsy|Unverricht-Lundborg syndrome
β˜…β˜…β˜†β˜†2022β†’ Residue 22
NM_000100.4(CSTB):c.145del (p.Ala49fs)Pathogenic
not provided|Progressive myoclonic epilepsy
β˜…β˜…β˜†β˜†2022β†’ Residue 49
NM_000100.4(CSTB):c.121del (p.Val41fs)Pathogenic
Progressive myoclonic epilepsy
β˜…β˜†β˜†β˜†2026β†’ Residue 41
NM_000100.4(CSTB):c.67-1G>APathogenic
Progressive myoclonic epilepsy
β˜…β˜†β˜†β˜†2025
NM_000100.4(CSTB):c.76C>T (p.Gln26Ter)Likely pathogenic
Unverricht-Lundborg syndrome
β˜…β˜†β˜†β˜†2024β†’ Residue 26
NM_000100.4(CSTB):c.246_247del (p.Leu82fs)Likely pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2024β†’ Residue 82
NM_000100.4(CSTB):c.43G>T (p.Glu15Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2019β†’ Residue 15
NM_000100.4(CSTB):c.200_203dup (p.Val69fs)Pathogenic
Progressive myoclonic epilepsy
β˜…β˜†β˜†β˜†2018β†’ Residue 69
NM_000100.4(CSTB):c.10G>T (p.Gly4Trp)Likely pathogenic
Unverricht-Lundborg syndrome
β˜…β˜†β˜†β˜†β†’ Residue 4
NM_000100.3(CSTB):c.-210CCCCGCCCCGCG[2_3]Pathogenic
Unverricht-Lundborg syndrome
β˜†β˜†β˜†β˜†2017
NG_011545.1(CSTB):g.4900_4935CCCCGCCCCGCG[30_125]Pathogenic
Unverricht-Lundborg syndrome
β˜†β˜†β˜†β˜†2014
NM_000100.4(CSTB):c.10G>C (p.Gly4Arg)Pathogenic
Unverricht-Lundborg syndrome
β˜†β˜†β˜†β˜†2005β†’ Residue 4
NM_000100.4(CSTB):c.212A>C (p.Gln71Pro)Pathogenic
Unverricht-Lundborg syndrome
β˜†β˜†β˜†β˜†2005β†’ Residue 71
NM_000100.4(CSTB):c.125C>A (p.Ser42Ter)Likely pathogenic
Unverricht-Lundborg syndrome
β˜†β˜†β˜†β˜†β†’ Residue 42
NM_000100.4(CSTB):c.66G>A (p.Gln22=)Likely pathogenic
Unverricht-Lundborg syndrome
β˜†β˜†β˜†β˜†β†’ Residue 22
NM_000100.4(CSTB):c.169-2A>GLikely pathogenic
Unverricht-Lundborg syndrome
β˜†β˜†β˜†β˜†
View on ClinVar β†—
Related Genes
SPINK9Shared pathway100%SPINK14Shared pathway100%SPINK6Shared pathway100%TM4SF20Shared pathway100%CTSSProtein interaction88%RRP1BProtein interaction88%
Tissue Expression6 tissues
Lung
100%
Liver
84%
Heart
53%
Ovary
45%
Brain
34%
Bone Marrow
22%
Gene Interaction Network
Click a node to explore
CSTBSPINK9SPINK14SPINK6TM4SF20CTSSRRP1B
PROTEIN STRUCTURE
Preparing viewer…
PDB2OCT Β· 1.40 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.68LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.94 [0.53–1.68]
RankingsWhere CSTB stands among ~20K protein-coding genes
  • #2,646of 20,598
    Most Researched168 Β· top quartile
  • #2,133of 5,498
    Most Pathogenic Variants21
  • #16,025of 17,882
    Most Constrained (LOEUF)1.68
Genes detectedCSTB
Sources retrieved27 papers
Response timeβ€”
πŸ“„ Sources
27β–Ό
1
Identification of the shared gene signatures and pathways between sarcopenia and type 2 diabetes mellitus.
PMID: 35271662
PLoS One Β· 2022
1.00
2
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
PMID: 28012042
Acta Neuropathol Β· 2017
0.90
3
Effects of Aerobic Exercise Training on Systemic Biomarkers and Cognition in Late Middle-Aged Adults at Risk for Alzheimer's Disease.
PMID: 34093436
Front Endocrinol (Lausanne) Β· 2021
0.80
4
[Cystatins].
PMID: 3330227
Postepy Biochem Β· 1987
0.76
5
Myeloperoxidase Inhibition Reverses Biomarker Profiles Associated With Clinical Outcomes in HFpEF.
PMID: 37140510
JACC Heart Fail Β· 2023
0.72