CSTB - cystatin B Gene

Also Known as PME; ULD; CST6; EPM1; STFB; CPI-B; EPM1A

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1476

About CSTB

Cytogenetic location: 21q22.3 Genomic coordinates (GRCh38): 21:43,773,950-43,776,308 (from NCBI)

This gene has 5 transcripts (splice variants), 257 orthologues, 1 paralogue and is associated with 4 phenotypes. Biased expression in esophagus (RPKM 2096.4) and urinary bladder (RPKM 80.5).

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]

CSTB Products (1)

mRNA	Protein	Name
NM_000100.4	NP_000091.1	cystatin-B

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables cysteine-type endopeptidase inhibitor activity	IDA IDA: Inferred from direct assay	3488317	GOA
enables endopeptidase inhibitor activity	IDA IDA: Inferred from direct assay	3053245	GOA
enables protease binding	IDA IDA: Inferred from direct assay	11514663	GOA
enables protease binding	IPI IPI: Inferred from physical interaction	6203523	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of peptidase activity	IDA IDA: Inferred from direct assay	6203523	GOA
involved in negative regulation of proteolysis	IDA IDA: Inferred from direct assay	3488317	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	11139332	GOA
located in extracellular space	IDA IDA: Inferred from direct assay	3488317	GOA
located in nucleus	IDA IDA: Inferred from direct assay	11139332	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CSTB Protein Structure

Cystatin

0
98 a.a.

Protein Preferred Names	Protein Names
cystatin-B	cystatin B (stefin B)

Recombinant CSTB Proteins

Cat. No.	Product Name	Accession	Purity
HY-P72965	Cystatin B/CSTB Protein, Human (His)	Q76LA1 (M2-F98)	≥ 95%, as determined by reducing SDS-PAGE.

CSTB Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P83104	Cystatin B Antibody (YA2849)	WB, IHC-P	Human, Rat
HY-P83104A	Cystatin B Antibody (YA2849)(PBS only)	WB, IHC-P	Human, Rat

Related Diseases

Diseases	Alias
Myoclonic Epilepsy Of Unverricht And Lundborg	Progressive Myoclonic Epilepsy Uld EPM1 Pme Epm1a Baltic Myoclonic Epilepsy Progressive Myoclonic Epilepsy Type 1 Unverricht-Lundborg Disease Familial Progressive Myoclonic Epilepsy Epilepsy, Progressive Myoclonic 1 Epilepsy, Progressive Myoclonic, 1a Epilepsy, Progressive Myoclonic, 1 Myoclonic Epilepsy, Progressive Epilepsy, Progressive Myoclonic 1a Progressive Myoclonus Epilepsy Type 1 Progressive Myoclonus Epilepsy Epilepsy Progressive Myoclonic Progressive Myoclonic Epilepsy 1 Progressive Myoclonic Epilepsy 1a Progressive Myoclonic Epilepsy Unverricht-Lundborg Type Epilepsy, Myoclonic, Progressive Epilepsy, Myoclonic, Progressive, Type 1a Unverricht-Lundborg Syndrome Myoclonic Epilepsies, Progressive
Unverricht-Lundborg Syndrome	Unverricht-Lundborg Disease Epm1 Myoclonic Epilepsy Of Unverricht And Lundborg Myoclonus Progressive Epilepsy Of Unverricht And Lundborg Unverricht - Lundborg Disease Unverricht'S Disease Epilepsy, Progressive Myoclonic Type 1 Epilepsy, Progressive Myoclonus 1 Progressive Myoclonus Epilepsy Baltic Myoclonic Epilepsy Baltic Myoclonic Epilepsy Baltic Myoclonus Baltic Myoclonus Epilepsy Lundborg-Unverricht Syndrome Mediterranean Myoclonic Epilepsy Pme Progressive Myoclonic Epilepsy Progressive Myoclonus Epilepsy 1 Uld Myoclonic Epilepsies, Progressive
Encephalopathy	Brain Diseases Encephalopathies Toxic Encephalopathy Toxic Brain Fever Toxic Brain Inflammation Toxic Brain Stem Inflammation Toxic Cerebral Fever Toxic Cerebrospinal Fever Toxic Cerebrospinal Inflammation Encephalopathy Nec Encephalopathy Nos Encephalopathy Disease Encephalopathy Syndrome
Hypohidrotic Ectodermal Dysplasia Autosomal Recessive	Anhidrotic Ectodermal Dysplasia, Autosomal Recessive Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Ar-Hed Autosomal Recessive Anhidrotic Ectodermal Dysplasia Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Syndrome Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Choreatic Disease	Chorea Hereditary Chorea
Progressive Myoclonus Epilepsy	Pme Progressive Myoclonic Epilepsy Myoclonic Epilepsies, Progressive Unverricht-Lundborg Syndrome
Myoclonus Epilepsy	Epilepsies, Myoclonic
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Benign Epilepsy With Centrotemporal Spikes	Rolandic Epilepsy Benign Rolandic Epilepsy Epilepsy, Rolandic Bcects Benign Childhood Epilepsy With Centrotemporal Spike Sylvan Seizures Becrs Bects Bre Benign Epilepsy Of Childhood With Centrotemporal Spikes Benign Familial Epilepsy Of Childhood With Rolandic Spikes Centrotemporal Epilepsy
Microcephaly	Microencephaly Microcephalus Microcephalic Nanocephaly Congenital Microcephaly Brain Hypoplasia Brain Nondevelopment Cephalic Hypoplasia Undeveloped Cerebrum Undeveloped Brain Micrencephalon Micrencephaly
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
Early Myoclonic Encephalopathy	Myoclonic Epilepsy Myoclonic Seizure Epilepsies, Myoclonic Epileptic Seizures - Myoclonic Epileptic Seizures, Myoclonic Myoclonia Epileptica Myoclonic Seizure Disorder Early Myoclonic Encephalopathy With Suppression-Bursts
Progressive Myoclonus Epilepsy 1a	Epm1a
Myoclonic Epilepsy Of Lafora	Lafora Disease Epilepsy, Progressive Myoclonic 2b EPM2 Melf Epilepsy, Progressive Myoclonic 2a Epm2a Lafora'S Disease Lafora Body Disease Lbd Epilepsy, Progressive Myoclonic, 2a Lafora Progressive Myoclonic Epilepsy Epilepsy Progressive Myoclonic 2 Lafora Body Disorder Pme Type 2 Progressive Myoclonic Epilepsy Type 2 Progressive Myoclonus Epilepsy Type 2 Epilepsy, Progressive Myoclonic 2 Epm2b Ld Progressive Myoclonic Epilepsy 2 Progressive Myoclonic Epilepsy 2a Progressive Myoclonic Epilepsy 2b Progressive Myoclonic Epilepsy Lafora Type Epilepsy, Myoclonic, Of Lafora
Myoclonus
Progressive Myoclonus Epilepsy 4	Action Myoclonus-Renal Failure Syndrome Amrf Epm4 Myoclonus-Nephropathy Syndrome
Epilepsy With Generalized Tonic-Clonic Seizures	Tonic-Clonic Epilepsy Epileptic Seizures, Tonic-Clonic Grand Mal Epilepsy Epilepsy, Tonic-Clonic
Dementia	Dementias Presenile Dementia Alzheimer Type Dementia Alzheimer Sclerosis Alzheimer Disease Dementia Alzheimer Dementia Primary Degenerative Alzheimer Type Dementia End Stage Alzheimer'S Dementia Alzheimer'S Type Atypical Dementia Alzheimer Type Presenile Dementia Early Onset Alzheimer Dementia Dementia In Alzheimer Disease Type 2 Dementia In Alzheimer Disease With Early Onset Early Onset Alzheimer Type Dementia, Uncomplicated Primary Degenerative Alzheimer Type Dementia, Early Onset Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated Alzheimer Disease Dementia With Early Onset Presenile Sclerosis Presenile Brain Sclerosis Presenile Alzheimer Brain Sclerosis Late Onset Alzheimer Dementia Dementia In Alzheimer Disease Type 1 Dementia In Alzheimer Disease With Late Onset Primary Degenerative Alzheimer Type Dementia, Late Onset Sdat - [Senile Dementia, Alzheimer Type] Alzheimer Disease Dementia With Late Onset Late Onset Alzheimer Brain Sclerosis Senile Alzheimer Brain Disease Senile Alzheimer Brain Sclerosis Senile Primary Degenerative Alzheimer Type Dementia Senile Dementia Of The Alzheimer Type Arteriosclerotic Dementia Strategic-Infarct Dementia Post Stroke Dementia Vascular Cognitive Impairment Vascular Dementia Dementia Of The Lewy Body Type Dementia With Lewy Bodies Sdlt - [Senile Dementia Of The Lewy Body Type] Senile Dementia Of The Lewy Body Type Alcohol-Related Dementia Alcoholic Dementia Nos Alcohol-Induced Dementia Alcoholic Brain Syndrome Chronic Alcoholic Brain Syndrome Alcohol Dementia Late Onset Alcoholic Psychosis Residual And Late-Onset Alcohol-Induced Psychotic Disorder Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder Late-Onset Psychoactive Substance-Induced Psychotic Disorder Inhalant Dementia Volatile Solvents Dementia Dementia In Paralysis Agitans Pdd - [Parkinson Disease Dementia] Dementia Syndrome Of Parkinson Disease Dementia In Parkinson Disease Parkinson Related Dementia Dementia In Huntington Chorea Hiv - [Human Immunodeficiency Virus] Dementia Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex Aids Related Dementia Dementia Due To Niacin Deficiency
Cerebral Amyloid Angiopathy, Cst3-Related	Cerebral Amyloid Angiopathy Hereditary Cerebral Hemorrhage With Amyloidosis Hchwa Hereditary Cystatin C Amyloid Angiopathy Cerebral Amyloid Angiopathy, Familial Amyloidosis, Cerebroarterial, Icelandic Type Amyloidosis Vi Cerebral Hemorrhage, Hereditary, With Amyloidosis Cst3-Related Cerebral Amyloid Angiopathy Cerebral Hemorrhage, Hereditary, With Amyloidosis, Icelandic Variant Hereditary Cerebral Hemorrhage With Amyloidosis, Icelandic Variant Caa, Familial Cerebral Amyloid Angiopathy, Genetic Acys Amyloidosis Cst3-Related Amyloidosis Cystatin Amyloidosis Hchwa, Icelandic Type Hereditary Cerebral Hemorrhage With Amyloidosis, Icelandic Type Amyloidosis 6 AMYL6 Acys Caa Cerebral Amyloid Angiopathy Cst3-Related Cerebroarterial Amyloidosis Icelandic Type Cystatin C Amyloidosis Hccaa Hchwai Hchwa-I Hereditary Cerebral Hemorrhage With Amyloidosis Icelandic Type Cerebral Amyloid Angiopathy Familial Angiopathy, Amyloid, Cerebral, Cst3-Related Hereditary Cerebral Amyloid Angiopathy, Icelandic Type Familial Cerebral Amyloid Angiopathy Cerebral Amyloid Angiopathy, Hereditary
Progressive Myoclonus Epilepsy 7	Epm7 Meak Myoclonus Epilepsy And Ataxia Due To Potassium Channel Mutation Pme Type 7 Progressive Myoclonic Epilepsy Due To Kv3.1 Deficiency Progressive Myoclonus Epilepsy Type 7
Glycoproteinosis	Sialidosis Mucolipidosis Type I Mucolipidoses Cherry Red Spot Myoclonus Syndrome Mucolipidosis I Myoclonus Cherry Red Spot Syndrome Type I Mucolipidosis Lipomucopolysaccharidosis Disorders Of Glycoprotein Metabolism Glycoprotein Storage Disorder
Progressive Myoclonus Epilepsy 6	Progressive Myoclonic Epilepsy Type 6 Epm6 Gosr2-Related Progressive Myoclonus Ataxia North Sea Progressive Myoclonus Epilepsy Pme Type 6 Progressive Myoclonus Epilepsy Type 6 Epilepsy, Progressive Myoclonic, 6
Progressive Myoclonus Epilepsy 1b	Epm1b
Adolescence-Adult Electroclinical Syndrome
Holoprosencephaly 1	Arhinencephaly HPE1 Cyclopia Holoprosencephaly, Familial Alobar Hpe, Familial Hpec Demyer Sequence Holoprosencephaly-1
Neonatal Period Electroclinical Syndrome
Paraphimosis
Epilepsy, Myoclonic Juvenile	Juvenile Myoclonic Epilepsy Janz Syndrome Jme Myoclonic Epilepsy, Juvenile, Susceptibility To, 1 EJM Myoclonic Epilepsy, Juvenile Petit Mal, Impulsive Myoclonic Epilepsy, Juvenile 1 Myoclonic Epilepsy, Juvenile, 1 Adolescent Myoclonic Epilepsy Juvenile Myoclonus Epilepsy Juvenile Myoclonic Epilepsy 1 EJM1 Petit Mal Impulsive Susceptibility To Juvenile Myoclonic Epilepsy 1 Myoclonic Epilepsy Juvenile Epilepsy, Myoclonic, Juvenile Myoclonic Epilepsy Of Janz Jme - [Juvenile Myoclonic Epilepsy]
Spinocerebellar Ataxia 36	Spinocerebellar Ataxia Type 36 SCA36 Asidan Ataxia Costa De Morte Ataxia Asidan Ataxia, Spinocerebellar, Type 36
Familial Adult Myoclonic Epilepsy	Benign Adult Familial Myoclonus Epilepsy Bafme Benign Adult Familial Myoclonic Epilepsy Fame Familial Cortical Myoclonic Tremor And Epilepsy Fcmte Adcme Autosomal Dominant Cortical Myoclonus And Epilepsy Fam Epilepsy, Myoclonic, Familial Adult Epilepsy, Myoclonic, Benign Adult Familial, Type 2
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Adnfle Autosomal Dominant Sleep-Related Hypermotor Epilepsy Enfl Benign Familial Infantile Seizures 6 Benign Familial Infantile Seizures, 6 Nocturnal Frontal Lobe Epilepsy-4 Enfl1 Epilepsy, Nocturnal Frontal Lobe, 1 Epilepsy, Nocturnal Frontal Lobe, Type 1
Scoliosis
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Merrf Syndrome MERRF Fukuhara Syndrome Myoclonic Epilepsy Associated With Ragged Red Fibers Myoencephalopathy Ragged-Red Fiber Disease Myoclonic Epilepsy - Ragged Red Fibers Myoclonus Epilepsy And Ragged Red Fibers Myoclonus With Epilepsy And With Ragged Red Fibers Myoclonic Epilepsy With Ragged Red Fibers Myoclonic Epilepsy With Ragged-Red Fibers Fukuhara Disease Myoclonus Epilepsy Associated With Ragged-Red Fibres Myoclonus With Epilepsy With Ragged Red Fibers
Neuronal Ceroid Lipofuscinosis	Hereditary Ceroid Lipofuscinosis Batten Disease Ncl Neuronal Ceroid-Lipofuscinoses Lipofuscinosis, Ceroid, Neuronal Juvenile Neuronal Ceroid Lipofuscinosis Cerebromacular Dystrophy Cerebromacular Degeneration Ceroid-Lipofuscinosis Ncl - [Neuronal Ceroid Lipofuscinosis] Amaurotic Familial Idiocy Amaurotic Idiocy Amaurotic Idiot Neuronal Lipofuscinosis Pigmentary Retinal Lipoid Neuronal Heredodegeneration
Alzheimer Disease, Familial, 1	Alzheimer Disease Alzheimer'S Disease Presenile And Senile Dementia AD1 Alzheimer Disease, Susceptibility To Alzheimer Disease, Late-Onset, Susceptibility To Alzheimer Disease 1, Familial AD Familial Alzheimer Disease Alzheimer Disease, Late-Onset Alzheimers Dementia Alzheimer Dementia Alzheimer Sclerosis Alzheimer Syndrome Alzheimer-Type Dementia Dat Primary Senile Degenerative Dementia Sdat Alzheimer Disease 1 Autosomal Dominant Alzheimer Disease Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy Late Onset Alzheimer Disease Alzheimers Disease Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy Late-Onset Alzheimers Disease Alzheimer'S Disease Pathway Kegg Dementia Due To Alzheimer'S Disease Alzheimer Disease Type 1 Alzheimers

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03272	CSTB Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18470	Cstb Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24951	Cstb Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	CSTB	VGNC	VGNC:71534
Rattus norvegicus	CSTB	RGD	RGD:2435
Mus musculus	CSTB	MGD	MGI:109514
Others	CSTB	NCBI