CSTB cystatin B [Homo sapiens (human)] - Gene

Summary

Official Symbol: CSTBprovided by HGNC
Official Full Name: cystatin Bprovided by HGNC
Primary source: HGNC:HGNC:2482
See related: Ensembl:ENSG00000160213 MIM:601145; AllianceGenome:HGNC:2482
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: PME; ULD; CST6; EPM1; STFB; CPI-B; EPM1A
Summary: The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and kininogens. This gene encodes a stefin that functions as an intracellular thiol protease inhibitor. The protein is able to form a dimer stabilized by noncovalent forces, inhibiting papain and cathepsins l, h and b. The protein is thought to play a role in protecting against the proteases leaking from lysosomes. Evidence indicates that mutations in this gene are responsible for the primary defects in patients with progressive myoclonic epilepsy (EPM1). One type of mutation responsible for EPM1 is the expansion in the promoter region of this gene of a CCCCGCCCCGCG repeat from 2-3 copies to 30-78 copies. [provided by RefSeq, Jul 2016]
Expression: Biased expression in esophagus (RPKM 2096.4) and urinary bladder (RPKM 80.5) See more
Orthologs: mouse all
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Genomic context

Location:: 21q22.3

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	21	NC_000021.9 (43773950..43776308, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	21	NC_060945.1 (42129562..42131920, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	21	NC_000021.8 (45193831..45196189, complement)

Chromosome 21 - NC_000021.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Biomarker cystatin B expression correlates with pathogenesis in cervical cancer.
Title: Biomarker cystatin B expression correlates with pathogenesis in cervical cancer.
The Roles of Cystatin B in the Brain and Pathophysiological Mechanisms of Progressive Myoclonic Epilepsy Type 1.
Title: The Roles of Cystatin B in the Brain and Pathophysiological Mechanisms of Progressive Myoclonic Epilepsy Type 1.
Decreased CSTB, RAGE, and Axl Receptor Are Associated with Zika Infection in the Human Placenta.
Title: Decreased CSTB, RAGE, and Axl Receptor Are Associated with Zika Infection in the Human Placenta.
Brief Report: Intracellular Cystatin B Levels Are Altered in HIV-Infected Participants With Respect to Neurocognitive Status and Antiretroviral Therapy.
Title: Brief Report: Intracellular Cystatin B Levels Are Altered in HIV-Infected Participants With Respect to Neurocognitive Status and Antiretroviral Therapy.
The Role of NMP22 and CSTB Levels in Predicting Postoperative Recurrence of Bladder Cancer.
Title: The Role of NMP22 and CSTB Levels in Predicting Postoperative Recurrence of Bladder Cancer.
Evaluation of CSTB and DMBT1 expression in saliva of gastric cancer patients and controls.
Title: Evaluation of CSTB and DMBT1 expression in saliva of gastric cancer patients and controls.
Cystatin B is essential for proliferation and interneuron migration in individuals with EPM1 epilepsy.
Title: Cystatin B is essential for proliferation and interneuron migration in individuals with EPM1 epilepsy.
Genetic testing and the phenotype of Polish patients with Unverricht-Lundborg disease (EPM1) - A cohort study.
Title: Genetic testing and the phenotype of Polish patients with Unverricht-Lundborg disease (EPM1) - A cohort study.
The findings suggest that the cleaved Bid protein acts as an amplifier of apoptotic signaling through mitochondria, thus enhancing the activity of cysteine cathepsins following stefin B degradation.
Title: Menadione-induced apoptosis in U937 cells involves Bid cleavage and stefin B degradation.
CSTB was overexpressed and miR1433p was downregulated in ovarian malignant tumors. Mature miR1433p directly bound CSTB 3'UTR, leading to a decrease in CSTB expression in OC cells, which was regulated by TGFbeta1.
Title: Transforming growth factor‑β/miR‑143‑3p/cystatin B axis is a therapeutic target in human ovarian cancer.

Submit: New GeneRIF Correction See all GeneRIFs (60)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Unverricht-Lundborg syndrome MedGen: C0751785 OMIM: 254800 GeneReviews: Progressive Myoclonic Epilepsy Type 1	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
HIV-1 infection upregulates cathepsin B, cystatin B, and cystatin C in the frontal white matter of patients with HIV-Associated Neurocognitive Disorders	PubMed
HIV-1 infection upregulates cystatin B (CSTB) in microglia	PubMed
HIV-1 replication requires CSTB (cystatin B) expression as shown through siRNA knockdown	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-87678 (e-PCR)
- UniSTS:64626

Cstb (e-PCR), detects polymorphism
- UniSTS:141438

G54168 (e-PCR)
- UniSTS:109471

G54169 (e-PCR)
- UniSTS:109472

G54170 (e-PCR)
- UniSTS:109473

G54171 (e-PCR)
- UniSTS:109474

G54172 (e-PCR)
- UniSTS:109475

G54173 (e-PCR)
- UniSTS:109476

G54174 (e-PCR)
- UniSTS:109477

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA binding	HDA more info	PubMed
enables cysteine-type endopeptidase inhibitor activity	IBA Inferred from Biological aspect of Ancestor more info
enables cysteine-type endopeptidase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables endopeptidase inhibitor activity	IDA Inferred from Direct Assay more info	PubMed
enables protease binding	IDA Inferred from Direct Assay more info	PubMed
enables protease binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in adult locomotory behavior	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of peptidase activity	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of proteolysis	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in ficolin-1-rich granule lumen	TAS Traceable Author Statement more info
located_in nucleolus	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in secretory granule lumen	TAS Traceable Author Statement more info
located_in tertiary granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: cystatin-B

Names: cystatin B (stefin B); epididymis secretory sperm binding protein; liver thiol proteinase inhibitor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.