GSDMB (gasdermin B)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID 55876
Gene name Gasdermin B
Gene symbol GSDMB
Synonyms (NCBI Gene)
GSDMB-1GSDMLPP4052PRO2521
Chromosome 17
Chromosome location 17q21.1
Summary 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.
6
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 MicroarrayqRT-PCR 33291534
MIRT529037 hsa-miR-5692a PAR-CLIP 21572407
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
611221 23690 ENSG00000073605
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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 from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
31
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (31)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ANKYLOSING SPONDYLITIS — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA — CTD, GWAS catalog
CTD, GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (71)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 22694930, 29193869 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma GWASCAT_DG 17611496, 20860503, 21804549, 27439200, 28461288, 29273806, 29785011, 30929738, 31036433, 31619474
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma Asthma GWASDB_DG 17611496, 20860503, 21804549, 21907864, 22561531, 24406073
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma Asthma Pubtator 18923164, 19732864, 20372189, 20503266, 22069270, 22271045, 22370936, 22694930, 23096927, 23154084, 24044605, 24066901, 24934276, 25256354, 25299150
View all (26 more)		 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma Asthma BEFREE 19133921, 19732864, 20372189, 21337730, 21682736, 22005912, 22069270, 22694930, 22732088, 23407123, 24066901, 24241537, 24315451, 24934276, 25256354
View all (12 more)
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma Asthma CTD_human_DG 24241537
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma Asthma Pubtator 29330013, 33909500 Inhibit
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases Autoimmune Diseases BEFREE 19732864, 28272342
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune disease Pubtator 19732864, 24044605, 28272342 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 24675552
★★★★★
★☆☆☆☆
Found in Text Mining only