Property Summary

NCBI Gene PubMed Count 19
Grant Count 8
R01 Count 3
Funding $545,650.67
PubMed Score 23.95
PubTator Score 7.53

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (5)

Expression

  Differential Expression (1)

Disease log2 FC p
psoriasis 1.100 0.000

Gene RIF (7)

PMID Text
26484354 Based on our results and published findings on GSDMA, GSDMB, LRRC3C, and related proteins, we propose that this locus in part affects IBD susceptibility via effects on apoptosis and cell proliferation
22037903 Study identified significantly white blood cell count (WBC) level associated SNPs of three separate genes GSDMA, MED24, and PSMD3 in European continent (EA) subjects.
21546069 Results suggest an association of 17q21 polymorphisms with ORMDL3, GSDMA expression, and IL-17 secretion early in life. These observations may imply a functional role of the 17q21 locus affecting T-cell development during immune maturation.
21337730 The GSDMA (rs7212938) and GSDMB (rs7216389) polymorphisms are associated with asthma susceptibility and intermediate asthma phenotypes.
19051310 Study investigated the expression pattern of the GSDM family genes in the upper gastrointestinal epithelium and cancers.
17471240 The present data suggest that TGF-beta, LMO1, possibly RUNX3, and GSDM form a regulatory pathway for directing the pit cells to apoptosis.
15010812 Evolutionary recombination hotspot around the GSDML-GSDM locus is closely linked to oncogenomic recombination hotspot around the PPP1R1B-STARD3-TCAP-PNMT-PERLD1-ERBB2-C17orf37-GRB7 amplicon at human chromosome 17q12.

AA Sequence

MTMFENVTRALARQLNPRGDLTPLDSLIDFKRFHPFCLVLRKRKSTLFWGARYVRTDYTLLDVLEPGSSP      1 - 70
SDPTDTGNFGFKNMLDTRVEGDVDVPKTVKVKGTAGLSQNSTLEVQTLSVAPKALETVQERKLAADHPFL     71 - 140
KEMQDQGENLYVVMEVVETVQEVTLERAGKAEACFSLPFFAPLGLQGSINHKEAVTIPKGCVLAFRVRQL    141 - 210
MVKGKDEWDIPHICNDNMQTFPPGEKSGEEKVILIQASDVGDVHEGFRTLKEEVQRETQQVEKLSRVGQS    211 - 280
SLLSSLSKLLGKKKELQDLELALEGALDKGHEVTLEALPKDVLLSKEAVGAILYFVGALTELSEAQQKLL    281 - 350
VKSMEKKILPVQLKLVESTMEQNFLLDKEGVFPLQPELLSSLGDEELTLTEALVGLSGLEVQRSGPQYMW    351 - 420
DPDTLPRLCALYAGLSLLQQLTKAS                                                 421 - 445
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Publication (23)

PMID Year Title
27281216 2016 Pore-forming activity and structural autoinhibition of the gasdermin family.
26484354 2015 Gene Expression-Genotype Analysis Implicates GSDMA, GSDMB, and LRRC3C as Contributors to Inflammatory Bowel Disease Susceptibility.
24388013 2014 Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype.
24241537 2014 A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations.
23128233 2012 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22037903 2012 Genetic variants associated with the white blood cell count in 13,923 subjects in the eMERGE Network.
21738480 2011 Multiple loci are associated with white blood cell phenotypes.
21546069 2011 Asthma-associated polymorphisms in 17q21 influence cord blood ORMDL3 and GSDMA gene expression and IL-17 secretion.
21337730 2011 Polymorphisms in GSDMA and GSDMB are associated with asthma susceptibility, atopy and BHR.
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