Gsdma3 Gene Detail

Summary

• Symbol
  Gsdma3
• Name
  gasdermin A3
• Synonyms
  Bsk, Dfl, Fgn, Gsdm1l, Gsdm3, Rco2, Rim3

• Feature Type
  protein coding gene
• IDs
  MGI:3044668
  NCBI Gene: 450219
• Alliance
  gene page
• Transcription Start Sites
  1 TSS

Location &
Maps

• Sequence Map
  Chr11:98517186-98529052 bp, + strand

  From Ensembl annotation of GRCm39
  

• View this region in JBrowse
  

• Genome Browsers
  Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 11, 62.21 cM
• Mapping Data
  9 experiments

Strain
Comparison

• SNPs within 2kb
  66 from dbSNP Build 142
• Strain Annotations
  13

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_3044668	protein coding gene	Chr11:98517175-98529627 (+)
129S1/SvImJ	MGP_129S1SvImJ_G0019065	protein coding gene	Chr11:101206098-101222217 (+)
A/J	MGP_AJ_G0019033	protein coding gene	Chr11:96979748-96991862 (+)
AKR/J	MGP_AKRJ_G0019003	protein coding gene	Chr11:99969573-99996293 (+)
BALB/cJ	MGP_BALBcJ_G0019007	protein coding gene	Chr11:97467087-97478999 (+)
C3H/HeJ	MGP_C3HHeJ_G0018820	protein coding gene	Chr11:100116235-100129615 (+)
C57BL/6NJ	no annotation
CAROLI/EiJ	MGP_CAROLIEiJ_G0017090	protein coding gene	Chr11:94414623-94550567 (+)
CAST/EiJ	MGP_CASTEiJ_G0018374	protein coding gene	Chr11:101011189-101016009 (+)
CBA/J	MGP_CBAJ_G0018791	protein coding gene	Chr11:108615540-108631038 (+)
DBA/2J	MGP_DBA2J_G0018899	protein coding gene	Chr11:96515484-96527833 (+)
FVB/NJ	MGP_FVBNJ_G0018888	protein coding gene	Chr11:96038045-96050756 (+)
LP/J	MGP_LPJ_G0018969	protein coding gene	Chr11:101674123-101687815 (+)
NOD/ShiLtJ	MGP_NODShiLtJ_G0018915	protein coding gene	Chr11:108375329-108391837 (+)
NZO/HlLtJ	no annotation
PWK/PhJ	no annotation
SPRET/EiJ	no annotation
WSB/EiJ	no annotation

Homology

• Human Ortholog
  GSDMA, gasdermin A

• Vertebrate Orthologs
  2

Vertebrate Orthology Source

Alliance of Genome Resources

• Human Ortholog
  GSDMA, gasdermin A
  
• Synonyms
  FKSG9, GSDM, GSDM1
• Links
  HGNC:13311

  NCBI Gene ID: 284110

  neXtProt AC: NX_Q96QA5

  UniProt: Q96QA5

  
  
• Chr Location
  17q21.1; chr17:39953263-39977768 (+)  GRCh38

---

• MGI Vertebrate Homology
  Gsdma3 stringent orthology
  1 human;1 mouse;1 rat
  
• HCOP
  vertebrate homology predictions: GSDMA
• Gene Tree
  Gsdma3
  

Mutations,
Alleles, and
Phenotypes

• Phenotype Summary
  53 phenotypes from 11 alleles in 11 genetic backgrounds
  41 phenotype references
  

• All Mutations and Alleles
  19
• Chemically induced (ENU)
  8
• Endonuclease-mediated
  3
• Spontaneous
  3
• Targeted
  5
• Genomic Mutations
  3 involving Gsdma3
• Incidental Mutations
  Mutagenetix , APF , CvDC
• Find Mice (IMSR)
  26 strains or lines available
• Comparison Matrix
  Gene Expression + Phenotype

Mutations of this gene affect normal development of the hair follicle, resulting in abnormal coats. Some alleles are associated with corneal opacity and/or microphthalmia. For one allele, high rates of mutation are observed in the MHC that appear to be associated with intra-MHC recombination.

Gene Ontology
(GO)
Classifications

• All GO Annotations
  39
• GO References
  17

Expression

• Assay Results
  725
• Tissues
  18
• cDNA Data
  1
• Literature Summary
  2

Images

Tissue x Stage Matrix

Comparison Matrix

Gene Expression + Phenotype

• Other Mouse Links
  GEO
  Expression Atlas

Sequences &
Gene Models

• All Sequences
  26
• RefSeq
  2
• UniProt
  3
• CCDS
  CCDS25356.1

• Ensembl
  ENSMUSG00000064224 (Evidence)
• NCBI Gene
  450219

Representative Sequences			Length	Strain/Species
genomic	ENSMUSG00000064224	Ensembl Gene Model | MGI Sequence Detail	11867	C57BL/6J
transcript	ENSMUST00000073295	Ensembl | MGI Sequence Detail	1477	Not Applicable
polypeptide	ENSMUSP00000073022	Ensembl | MGI Sequence Detail	464	Not Applicable

Protein
Information

• UniProt
  3 Sequences
• Protein Ontology
  PR:000008387 gasdermin-A3
  (term hierarchy)
• PDB
  5B5R, 6CB8
• InterPro Domains
  IPR040460 Gasdermin, pore forming domain
  IPR041263 Gasdermin, PUB domain

Molecular
Reagents

• All nucleic 2

  cDNA 2

  
  

  Microarray probesets 1

Other
Accession IDs

MGD-MRK-13890, MGD-MRK-1675, MGI:2182029, MGI:2661197, MGI:88209, MGI:97925

References

• Summaries
  All 65

  Developmental Gene Expression 2

  Gene Ontology 17

  Phenotypes 41
• Earliest
  J:3639 Shiroishi T, et al., III. Mammalian genetics. Mouse visible mutations of the intra-MHC recombinants. Annu Rep Natl Inst Genet Jpn. 1992;42:49
• Latest
  J:335519 Huang LY, et al., Gasdermin A Is Required for Epidermal Cornification during Skin Barrier Regeneration and in an Atopic Dermatitis-like Model. J Invest Dermatol. 2023 Mar 24;

TSS for Gsdma3:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr104755	Chr11:98517170-98517175 (+)	-13 bp