GSDMB (gasdermin B)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55876
Gene name Gene Name - the full gene name approved by the HGNC.
Gasdermin B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
GSDMB
Synonyms (NCBI Gene) Gene synonyms aliases
GSDMB-1, GSDML, PP4052, PRO2521
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a member of the gasdermin-domain containing protein family. Other gasdermin-family genes are implicated in the regulation of apoptosis in epithelial cells, and are linked to cancer. Alternative splicing and the use of alternative promote
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(6)
miRTarBase ID miRNA Experiments Reference
MIRT017179 hsa-miR-335-5p Microarray 18185580
MIRT529037 hsa-miR-5692a PAR-CLIP 21572407
MIRT529037 hsa-miR-5692a PAR-CLIP 22012620
MIRT735131 hsa-miR-15a-5p Microarray, qRT-PCR 33291534
MIRT529037 hsa-miR-5692a PAR-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(22)
GO ID Ontology Definition Evidence Reference
GO:0001786 Function Phosphatidylserine binding IBA
GO:0005543 Function Phospholipid binding IDA 28154144
GO:0005546 Function Phosphatidylinositol-4,5-bisphosphate binding IBA
GO:0005737 Component Cytoplasm IEA
GO:0005886 Component Plasma membrane IDA 28154144, 32299851, 36157507, 36899106
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
611221 23690 ENSG00000073605
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Q8TAX9
Protein name Gasdermin-B (Gasdermin-like protein) [Cleaved into: Gasdermin-B, N-terminal (GSDMB-NT) (p30); Gasdermin-B, C-terminal (GSDMB-CT) (p16)]
Protein function [Gasdermin-B]: Precursor of a pore-forming protein that acts as a downstream mediator of granzyme-mediated cell death (PubMed:32299851). This form constitutes the precursor of the pore-forming protein: upon cleavage, the released N-terminal moie
PDB 5TIB , 5TJ2 , 5TJ4 , 7WJQ , 8EFP , 8ET1 , 8ET2 , 8GTJ , 8GTK , 8GTN
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04598 Gasdermin 4 → 237 Gasdermin pore forming domain Domain
PF17708 Gasdermin_C 243 → 382 Gasdermin PUB domain Domain
Tissue specificity TISSUE SPECIFICITY: In the gastrointestinal tract, expressed in proliferating cells, including in the basal cell layer of esophagus and in isthmus/neck of stomach. {ECO:0000269|PubMed:19051310}.
Sequence
Sequence length 411
Interactions View interactions
<
Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (9)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma onset (childhood vs adult), Asthma (childhood onset), Asthma (age of onset), Asthma (time to onset), Pediatric asthma, Asthma, Age of onset of childhood onset asthma, Age of onset of adult onset asthma, Nonatopic asthma, Asthma in any disease, Atopic asthma, Asthma (moderate or severe), Bronchial hyperresponsiveness in asthma N/A N/A GWAS
Atrial Fibrillation Atrial fibrillation N/A N/A GWAS
Biliary Cirrhosis Primary biliary cirrhosis N/A N/A GWAS
Cervical Cancer Cervical cancer N/A N/A GWAS
Show/Hide Text Mining Associations (38)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Arthritis Rheumatoid Associate 22694930, 29193869
Asthma Associate 18923164, 19732864, 20372189, 20503266, 22069270, 22271045, 22370936, 22694930, 23096927, 23154084, 24044605, 24066901, 24934276, 25256354, 25299150
View all (26 more)
Asthma Inhibit 29330013, 33909500
Autoimmune Diseases Associate 19732864, 24044605, 28272342
Ben Ari Shuper Mimouni syndrome Associate 36967681
Breast Neoplasms Associate 21247443, 28154144
Bronchiolitis Associate 26782568
Carcinoma Hepatocellular Stimulate 34731088
Carcinoma Non Small Cell Lung Associate 35422093
Carcinoma Renal Cell Associate 34957313, 35308143, 38179741