The CSTB gene homepage

General information
Gene symbol CSTB
Gene name cystatin B (stefin B)
Chromosome 21
Chromosomal band q22.3
Imprinted Not imprinted
Genomic reference NG_011545.1
Transcript reference NM_000100.3
Exon/intron information NM_000100.3 exon/intron table
Associated with diseases EPM, EPM1A
Citation reference(s) PubMed: Joensuu 2008
Refseq URL Genomic reference sequence
Curators (2) Tarja Joensuu and Anna-Elina Lehesjoki
Total number of public variants reported 141
Unique public DNA variants reported 32
Individuals with public variants 130
Hidden variants -
Download all this gene's data Download all data
Notes Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 29, 2010
Date last updated January 11, 2023
Version CSTB:230111

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000100.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
External URL Finnish Disease Database
HGNC 2482
Entrez Gene 1476
PubMed articles CSTB
OMIM - Gene 601145
OMIM - Diseases EPM1A (epilepsy, myoclonic, progressive, type 1A (EPM1A, Unverricht and Lundborg))
GeneCards CSTB
GeneTests CSTB
Orphanet CSTB

Active transcripts




NCBI ID     

NCBI Protein ID     

00025580 21 cystatin B (stefin B) NM_000100.3 NP_000091.1 141

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