Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1476
Gene name	Cystatin B
Gene symbol	CSTB
Synonyms (NCBI Gene)	CPI-BCST6EPM1EPM1APMESTFBULD
Chromosome	21
Chromosome location	21q22.3
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

Show/Hide all (19)

SNP ID	Visualize variation	Clinical significance	Consequence
rs11553836	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs74315442	G>A	Pathogenic	Coding sequence variant, stop gained
rs74315443	C>A,G	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs121909346	T>G	Pathogenic	Missense variant, coding sequence variant
rs143153487	C>T	Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs147484110	C>G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs312262707	GAGGCCCACACTCTACCT>-	Pathogenic	Intron variant, coding sequence variant, splice donor variant
rs312262708	C>T	Pathogenic	Missense variant, coding sequence variant
rs386833439	G>T	Pathogenic-likely-pathogenic	Stop gained, coding sequence variant
rs386833440	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, synonymous variant
rs386833441	T>C	Pathogenic-likely-pathogenic	Splice acceptor variant
rs386833443	C>T	Pathogenic-likely-pathogenic	Coding sequence variant, synonymous variant
rs545986367	G>A	Pathogenic	Stop gained, coding sequence variant
rs796943858	GA>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs864309482	CTCCTGAGGCCCACACTCTA>TT	Pathogenic	Splice donor variant, intron variant
rs1044894207	->AT	Uncertain-significance, likely-pathogenic	Frameshift variant, initiator codon variant
rs1555888493	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1569006250	G>A	Pathogenic	Stop gained, coding sequence variant
rs1601855887	->CGCA	Pathogenic	Frameshift variant, coding sequence variant

165

Show/Hide all (165)

miRTarBase ID	miRNA	Experiments	Reference
MIRT038631	hsa-miR-125b-2-3p	CLASH	23622248
MIRT038056	hsa-miR-423-5p	CLASH	23622248
MIRT037284	hsa-miR-877-5p	CLASH	23622248
MIRT913400	hsa-miR-1252	CLIP-seq
MIRT913401	hsa-miR-149	CLIP-seq
MIRT913402	hsa-miR-21	CLIP-seq
MIRT913403	hsa-miR-223	CLIP-seq
MIRT913404	hsa-miR-298	CLIP-seq
MIRT913405	hsa-miR-3064-5p	CLIP-seq
MIRT913406	hsa-miR-3156-5p	CLIP-seq
MIRT913407	hsa-miR-3158-5p	CLIP-seq
MIRT913408	hsa-miR-3179	CLIP-seq
MIRT913409	hsa-miR-3182	CLIP-seq
MIRT913410	hsa-miR-3529	CLIP-seq
MIRT913411	hsa-miR-3605-5p	CLIP-seq
MIRT913412	hsa-miR-379	CLIP-seq
MIRT913413	hsa-miR-4451	CLIP-seq
MIRT913414	hsa-miR-4457	CLIP-seq
MIRT913415	hsa-miR-4476	CLIP-seq
MIRT913416	hsa-miR-4490	CLIP-seq
MIRT913417	hsa-miR-4512	CLIP-seq
MIRT913418	hsa-miR-4533	CLIP-seq
MIRT913419	hsa-miR-4650-3p	CLIP-seq
MIRT913420	hsa-miR-4661-3p	CLIP-seq
MIRT913421	hsa-miR-4697-3p	CLIP-seq
MIRT913422	hsa-miR-4722-3p	CLIP-seq
MIRT913423	hsa-miR-4747-5p	CLIP-seq
MIRT913424	hsa-miR-4766-5p	CLIP-seq
MIRT913425	hsa-miR-4774-5p	CLIP-seq
MIRT913426	hsa-miR-4778-5p	CLIP-seq
MIRT913427	hsa-miR-4794	CLIP-seq
MIRT913428	hsa-miR-483-5p	CLIP-seq
MIRT913429	hsa-miR-513b	CLIP-seq
MIRT913430	hsa-miR-519a	CLIP-seq
MIRT913431	hsa-miR-519b-3p	CLIP-seq
MIRT913432	hsa-miR-519c-3p	CLIP-seq
MIRT913433	hsa-miR-539	CLIP-seq
MIRT913434	hsa-miR-548a-5p	CLIP-seq
MIRT913435	hsa-miR-548ab	CLIP-seq
MIRT913436	hsa-miR-548ak	CLIP-seq
MIRT913437	hsa-miR-548b-5p	CLIP-seq
MIRT913438	hsa-miR-548c-5p	CLIP-seq
MIRT913439	hsa-miR-548d-5p	CLIP-seq
MIRT913440	hsa-miR-548h	CLIP-seq
MIRT913441	hsa-miR-548i	CLIP-seq
MIRT913442	hsa-miR-548j	CLIP-seq
MIRT913443	hsa-miR-548w	CLIP-seq
MIRT913444	hsa-miR-548y	CLIP-seq
MIRT913445	hsa-miR-559	CLIP-seq
MIRT913446	hsa-miR-590-5p	CLIP-seq
MIRT913447	hsa-miR-622	CLIP-seq
MIRT913448	hsa-miR-646	CLIP-seq
MIRT913449	hsa-miR-651	CLIP-seq
MIRT1970870	hsa-miR-127-5p	CLIP-seq
MIRT1970871	hsa-miR-143	CLIP-seq
MIRT1970872	hsa-miR-1913	CLIP-seq
MIRT913402	hsa-miR-21	CLIP-seq
MIRT913403	hsa-miR-223	CLIP-seq
MIRT913404	hsa-miR-298	CLIP-seq
MIRT1970873	hsa-miR-3127-3p	CLIP-seq
MIRT913407	hsa-miR-3158-5p	CLIP-seq
MIRT1970874	hsa-miR-324-3p	CLIP-seq
MIRT913410	hsa-miR-3529	CLIP-seq
MIRT913411	hsa-miR-3605-5p	CLIP-seq
MIRT913412	hsa-miR-379	CLIP-seq
MIRT1970875	hsa-miR-3940-3p	CLIP-seq
MIRT913413	hsa-miR-4451	CLIP-seq
MIRT913414	hsa-miR-4457	CLIP-seq
MIRT913416	hsa-miR-4490	CLIP-seq
MIRT913419	hsa-miR-4650-3p	CLIP-seq
MIRT913420	hsa-miR-4661-3p	CLIP-seq
MIRT1970876	hsa-miR-4688	CLIP-seq
MIRT913421	hsa-miR-4697-3p	CLIP-seq
MIRT913422	hsa-miR-4722-3p	CLIP-seq
MIRT1970877	hsa-miR-4749-3p	CLIP-seq
MIRT1970878	hsa-miR-4770	CLIP-seq
MIRT913425	hsa-miR-4774-5p	CLIP-seq
MIRT913428	hsa-miR-483-5p	CLIP-seq
MIRT913429	hsa-miR-513b	CLIP-seq
MIRT913430	hsa-miR-519a	CLIP-seq
MIRT913431	hsa-miR-519b-3p	CLIP-seq
MIRT913432	hsa-miR-519c-3p	CLIP-seq
MIRT913446	hsa-miR-590-5p	CLIP-seq
MIRT913447	hsa-miR-622	CLIP-seq
MIRT913448	hsa-miR-646	CLIP-seq
MIRT913449	hsa-miR-651	CLIP-seq
MIRT913400	hsa-miR-1252	CLIP-seq
MIRT1970870	hsa-miR-127-5p	CLIP-seq
MIRT1970871	hsa-miR-143	CLIP-seq
MIRT913401	hsa-miR-149	CLIP-seq
MIRT1970872	hsa-miR-1913	CLIP-seq
MIRT913402	hsa-miR-21	CLIP-seq
MIRT913403	hsa-miR-223	CLIP-seq
MIRT913404	hsa-miR-298	CLIP-seq
MIRT913405	hsa-miR-3064-5p	CLIP-seq
MIRT1970873	hsa-miR-3127-3p	CLIP-seq
MIRT913406	hsa-miR-3156-5p	CLIP-seq
MIRT913407	hsa-miR-3158-5p	CLIP-seq
MIRT913408	hsa-miR-3179	CLIP-seq
MIRT913409	hsa-miR-3182	CLIP-seq
MIRT1970874	hsa-miR-324-3p	CLIP-seq
MIRT913410	hsa-miR-3529	CLIP-seq
MIRT913411	hsa-miR-3605-5p	CLIP-seq
MIRT913412	hsa-miR-379	CLIP-seq
MIRT1970875	hsa-miR-3940-3p	CLIP-seq
MIRT913413	hsa-miR-4451	CLIP-seq
MIRT913414	hsa-miR-4457	CLIP-seq
MIRT913416	hsa-miR-4490	CLIP-seq
MIRT913418	hsa-miR-4533	CLIP-seq
MIRT913419	hsa-miR-4650-3p	CLIP-seq
MIRT913420	hsa-miR-4661-3p	CLIP-seq
MIRT1970876	hsa-miR-4688	CLIP-seq
MIRT913421	hsa-miR-4697-3p	CLIP-seq
MIRT913422	hsa-miR-4722-3p	CLIP-seq
MIRT913423	hsa-miR-4747-5p	CLIP-seq
MIRT1970877	hsa-miR-4749-3p	CLIP-seq
MIRT1970878	hsa-miR-4770	CLIP-seq
MIRT913425	hsa-miR-4774-5p	CLIP-seq
MIRT913427	hsa-miR-4794	CLIP-seq
MIRT913428	hsa-miR-483-5p	CLIP-seq
MIRT913429	hsa-miR-513b	CLIP-seq
MIRT913430	hsa-miR-519a	CLIP-seq
MIRT913431	hsa-miR-519b-3p	CLIP-seq
MIRT913432	hsa-miR-519c-3p	CLIP-seq
MIRT913446	hsa-miR-590-5p	CLIP-seq
MIRT913447	hsa-miR-622	CLIP-seq
MIRT913448	hsa-miR-646	CLIP-seq
MIRT913449	hsa-miR-651	CLIP-seq
MIRT913401	hsa-miR-149	CLIP-seq
MIRT913403	hsa-miR-223	CLIP-seq
MIRT913405	hsa-miR-3064-5p	CLIP-seq
MIRT913406	hsa-miR-3156-5p	CLIP-seq
MIRT913408	hsa-miR-3179	CLIP-seq
MIRT913409	hsa-miR-3182	CLIP-seq
MIRT913410	hsa-miR-3529	CLIP-seq
MIRT913411	hsa-miR-3605-5p	CLIP-seq
MIRT913412	hsa-miR-379	CLIP-seq
MIRT2386547	hsa-miR-4312	CLIP-seq
MIRT913413	hsa-miR-4451	CLIP-seq
MIRT913416	hsa-miR-4490	CLIP-seq
MIRT913417	hsa-miR-4512	CLIP-seq
MIRT913419	hsa-miR-4650-3p	CLIP-seq
MIRT913421	hsa-miR-4697-3p	CLIP-seq
MIRT913423	hsa-miR-4747-5p	CLIP-seq
MIRT913424	hsa-miR-4766-5p	CLIP-seq
MIRT913425	hsa-miR-4774-5p	CLIP-seq
MIRT913426	hsa-miR-4778-5p	CLIP-seq
MIRT913427	hsa-miR-4794	CLIP-seq
MIRT913430	hsa-miR-519a	CLIP-seq
MIRT913431	hsa-miR-519b-3p	CLIP-seq
MIRT913432	hsa-miR-519c-3p	CLIP-seq
MIRT913434	hsa-miR-548a-5p	CLIP-seq
MIRT913435	hsa-miR-548ab	CLIP-seq
MIRT913436	hsa-miR-548ak	CLIP-seq
MIRT913437	hsa-miR-548b-5p	CLIP-seq
MIRT913438	hsa-miR-548c-5p	CLIP-seq
MIRT913439	hsa-miR-548d-5p	CLIP-seq
MIRT913440	hsa-miR-548h	CLIP-seq
MIRT913441	hsa-miR-548i	CLIP-seq
MIRT913442	hsa-miR-548j	CLIP-seq
MIRT913443	hsa-miR-548w	CLIP-seq
MIRT913444	hsa-miR-548y	CLIP-seq
MIRT913445	hsa-miR-559	CLIP-seq
MIRT913447	hsa-miR-622	CLIP-seq
MIRT913449	hsa-miR-651	CLIP-seq

Show/Hide all (28)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002020	Function	Protease binding	IDA	11514663
GO:0002020	Function	Protease binding	IEA
GO:0002020	Function	Protease binding	IPI	6203523
GO:0003723	Function	RNA binding	HDA	22658674
GO:0004866	Function	Endopeptidase inhibitor activity	IDA	3053245
GO:0004866	Function	Endopeptidase inhibitor activity	IEA
GO:0004866	Function	Endopeptidase inhibitor activity	TAS	3053245
GO:0004869	Function	Cysteine-type endopeptidase inhibitor activity	IBA
GO:0004869	Function	Cysteine-type endopeptidase inhibitor activity	IDA	3488317, 6203523
GO:0004869	Function	Cysteine-type endopeptidase inhibitor activity	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	23580065
GO:0005615	Component	Extracellular space	IDA	3488317
GO:0005634	Component	Nucleus	IDA	11139332
GO:0005634	Component	Nucleus	IEA
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IDA	11139332
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0008344	Process	Adult locomotory behavior	IEA
GO:0030414	Function	Peptidase inhibitor activity	IEA
GO:0031012	Component	Extracellular matrix	HDA	25037231, 28675934
GO:0034774	Component	Secretory granule lumen	TAS
GO:0045861	Process	Negative regulation of proteolysis	IDA	3488317, 6203523
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 23533145
GO:1904724	Component	Tertiary granule lumen	TAS
GO:1904813	Component	Ficolin-1-rich granule lumen	TAS

MIM	HGNC	e!Ensembl
601145	2482	ENSG00000160213

P04080

Protein name

Cystatin-B (CPI-B) (Liver thiol proteinase inhibitor) (Stefin-B)

Protein function

This is an intracellular thiol proteinase inhibitor. Tightly binding reversible inhibitor of cathepsins L, H and B.

PDB

1STF , 2OCT , 4N6V

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00031	Cystatin	4 → 92	Cystatin domain	Domain

Sequence

MMCGAPSATQPATAETQHIADQVRSQLEEKENKKFPVFKAVSFKSQVVAGTNYFIKVHVG
DEDFVHLRVFQSLPHENKPLTLSNYQTNKAKHDELTYF

Sequence length

Interactions

View interactions

	Reactome
			Neutrophil degranulation

172

Show/Hide Causal Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cerebral dysmyelination	Pathogenic	rs147484110	RCV001254919
Chorea	Pathogenic	rs147484110	RCV001003638
Dyskinesia	Pathogenic	rs147484110	RCV001003638
Encephalopathy	Pathogenic	rs147484110	RCV001254919
Glioma susceptibility 1	Likely pathogenic	rs386833440	RCV005890357
Hepatocellular carcinoma	Pathogenic	rs147484110	RCV005887392
Microcephaly	Pathogenic	rs147484110	RCV001254919
Progressive myoclonic epilepsy	Pathogenic; Likely pathogenic	rs1257171692, rs545986367, rs2517171405, rs147484110, rs74315442, rs1569006250, rs1601855887, rs796943858	RCV001939679 RCV000811370 RCV002571535 RCV000638304 RCV001387303 RCV000697295 RCV000816149 RCV000638318
Self-limited epilepsy with centrotemporal spikes	Pathogenic	rs74315442	RCV000656065
Unverricht-Lundborg syndrome	Likely pathogenic; Pathogenic	rs545986367, rs147484110, rs74315442, rs74315443, rs121909346, rs1569006250, rs386833439, rs386833440, rs386833441, rs796943858, rs386833443	RCV000202565 RCV000008903 RCV000008904 RCV000008905 RCV000008908 RCV000655934 RCV001784328 RCV000049366 RCV000049367 RCV000049368 RCV000049369 RCV000049370

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
CSTB-related disorder	Likely benign; Conflicting classifications of pathogenicity	rs2123387857, rs143153487, rs2517170762, rs368198839	RCV003895999 RCV003947486 RCV003982634 RCV003942949

Show/Hide Text Mining Associations (49)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adrenal Cortex Diseases	Associate	21075014
Autism Spectrum Disorder	Associate	33675537
Bronchiolitis Obliterans Syndrome	Inhibit	24704387
Carcinoma Hepatocellular	Associate	31115549, 36102438
Carcinoma Hepatocellular	Inhibit	39566392
Carcinoma Ovarian Epithelial	Associate	24452274
Carcinoma Renal Cell	Stimulate	24452274
Celiac Disease	Associate	33362776
Cerebellar Ataxia	Associate	9529356
Cerebral Palsy	Associate	28378817
Cognition Disorders	Associate	23205931
Cognitive Dysfunction	Associate	36398398
Deafness	Associate	19170735
Demyelinating Diseases	Associate	28378817
Diabetes Mellitus Type 2	Associate	35271662
Encephalitis	Associate	26092112
Endometrial Neoplasms	Associate	31692912
Epilepsies Myoclonic	Associate	16155205, 21075014, 8651302, 9342192
Epilepsy	Associate	26802095, 28378817
Epilepsy Absence	Associate	23205931
Epilepsy Tonic Clonic	Associate	37951142
Epileptic Encephalopathy Early Infantile 3	Associate	33798445
Esophageal Squamous Cell Carcinoma	Inhibit	21517111
Glioblastoma	Associate	25356585
Hepatitis C Chronic	Associate	36102438
HIV Infections	Associate	18951626, 26092112, 30504243
HIV Seropositivity	Associate	23291538
Hunt's syndrome	Associate	19656408
Hypoxia	Inhibit	16080536
Infarction	Associate	33122738
Inflammation	Associate	29894487
Mental Disorders	Associate	23205931
Microcephaly	Associate	28378817
Moyamoya Disease	Associate	37400835
Myoclonic Epilepsies Progressive	Associate	19170735, 9012407, 9186245, 9529356
Myoclonus	Associate	22268086, 23205931, 34171687, 36398398, 37951142, 9012407
Neoplasm Metastasis	Associate	22753015
Neoplasm Recurrence Local	Associate	37393630
Neoplasms	Associate	24452274, 39201484
Neurocognitive Disorders	Associate	23291538
Neurodegenerative Diseases	Associate	16155205, 19656408, 28378817
Neurotoxicity Syndromes	Associate	22693552
Nonsyndromic Deafness	Associate	19170735
Sarcopenia	Associate	35271662
Seizures	Associate	23205931, 9012407
Stomach Neoplasms	Associate	26911362, 28281969, 34057136
Stomach Neoplasms	Inhibit	35488257
Unverricht Lundborg Syndrome	Associate	14510831, 15329070, 16155205, 21075014, 22268086, 23205931, 28378817, 29978618, 33865103, 34171687, 36359887, 36398398, 37951142, 8651302, 8963899, 9012407, 9342192 View all (2 more)
Urinary Bladder Neoplasms	Associate	35647202

CSTB (cystatin B)