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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 promoters results in multiple transcript variants. Additional variants have been described, but they are candidates for nonsense-mediated mRNA decay (NMD) and are unlikely to be protein-coding. [provided by RefSeq, Nov 2016]
GSDMB (Gasdermin B) is a Protein Coding gene. Diseases associated with GSDMB include Oral Squamous Cell Carcinoma and Bronchial Disease. An important paralog of this gene is GSDMA.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001786 | phosphatidylserine binding | IBA | 21873635 |
GO:0003674 | molecular_function | ND | -- |
GO:0005546 | phosphatidylinositol-4,5-bisphosphate binding | IBA | 21873635 |
GO:0070273 | phosphatidylinositol-4-phosphate binding | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005575 | cellular_component | ND | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005829 | cytosol | IEA | -- |
GO:0005886 | plasma membrane | IEA | -- |
GO:0016020 | membrane | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0008150 | biological_process | ND | -- |
GO:0012501 | programmed cell death | IEA | -- |
GO:0042742 | defense response to bacterium | IBA | 21873635 |
GO:0070269 | pyroptosis | IBA | 21873635 |
ExUns: | 1a | · | 1b | ^ | 2a | · | 2b | · | 2c | · | 2d | · | 2e | · | 2f | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP2: | - | - | |||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
SP6: | |||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | ||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | |||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | - | - |
This gene was present in the common ancestor of mammals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | GSDMB 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | GSDMB 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | GSDMB 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | GSDMB 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
728833 | Benign: not provided | 39,917,245(-) | G/A | SYNONYMOUS_VARIANT | |
761523 | Likely Benign: not provided | 39,905,958(-) | G/A | SYNONYMOUS_VARIANT | |
VAR_042634 | A breast cancer sample | p.Asp245Gly | |||
rs12450091 | - | p.Glu122Gly | |||
rs16965388 | - | p.Arg325Cys |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv3573064 | CNV | gain | 25503493 |
esv3640549 | CNV | loss | 21293372 |
nsv1146669 | OTHER | inversion | 26484159 |
Disorder | Aliases | PubMed IDs |
---|---|---|
oral squamous cell carcinoma |
|
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bronchial disease |
|
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asthma |
|
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