Defa3 defensin, alpha, 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Defa3provided by MGI
Official Full Name: defensin, alpha, 3provided by MGI
Primary source: MGI:MGI:94883
See related: Ensembl:ENSMUSG00000074440 AllianceGenome:MGI:94883
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Defa27; Defcr3; Defcr-3
Summary: Predicted to enable protein homodimerization activity. Acts upstream of or within response to bacterium and response to xenobiotic stimulus. Located in extracellular space. Orthologous to several human genes including DEFA1 (defensin alpha 1); DEFA3 (defensin alpha 3); and DEFA4 (defensin alpha 4). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in large intestine adult (RPKM 3192.2), small intestine adult (RPKM 658.9) and 1 other tissue See more
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Genomic context

Location:: 8 A2; 8 10.35 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	8	NC_000074.7 (21777425..21778393)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (21287409..21288377)

Chromosome 8 - NC_000074.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

we engineered a monoclonal antibody against HNP-1 to block the interaction with P2X7 and found that the blocking antibody protected mice carrying high copy number of DEFA1/DEFA3 from lethal sepsis. We thus demonstrate that DEFA1/DEFA3 copy number variation strongly modulates sepsis development in vivo and explore a paradigm for the precision treatment of sepsis tailored by individual genetic information.
Title: Increased gene copy number of DEFA1/DEFA3 worsens sepsis by inducing endothelial pyroptosis.
MMP-7-dependent procryptdin activation in vivo provides mouse Paneth cells with functional peptides for apical secretion into the small intestine lumen
Title: Activation of Paneth cell alpha-defensins in mouse small intestine.
cryptdin 3 forms anion-selective channels on the cytoplasmic membrane of HEK cells and that the kinetics of one such channel are affected by its interaction with other such channels.
Title: Cryptdin 3 forms anion selective channels in cytoplasmic membranes of human embryonic kidney cells.

Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (1)

General gene information

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Markers

NoName (e-PCR)
- UniSTS:489047

Defcr17 (e-PCR), detects polymorphism
- UniSTS:186513

Defcr3 (e-PCR), detects polymorphism
- UniSTS:186514

AU014719 (e-PCR)
- UniSTS:165572

NoName (e-PCR)
- UniSTS:491224

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables pore-forming activity	ISO Inferred from Sequence Orthology more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in antibacterial humoral response	IBA Inferred from Biological aspect of Ancestor more info
involved_in antimicrobial humoral immune response mediated by antimicrobial peptide	IBA Inferred from Biological aspect of Ancestor more info
involved_in cellular response to lipopolysaccharide	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within cellular response to lipopolysaccharide	IGI Inferred from Genetic Interaction more info	PubMed
involved_in defense response to Gram-negative bacterium	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within defense response to Gram-negative bacterium	IGI Inferred from Genetic Interaction more info	PubMed
involved_in defense response to Gram-positive bacterium	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within defense response to Gram-positive bacterium	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within defense response to bacterium	IDA Inferred from Direct Assay more info	PubMed
involved_in disruption of plasma membrane integrity in another organism	IBA Inferred from Biological aspect of Ancestor more info
involved_in innate immune response in mucosa	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within response to xenobiotic stimulus	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular space	ISO Inferred from Sequence Orthology more info
located_in intracellular membrane-bounded organelle	ISO Inferred from Sequence Orthology more info
located_in midbody	ISO Inferred from Sequence Orthology more info
located_in secretory granule	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: alpha-defensin 3

Names: defensin, alpha, 27; defensin-related cryptdin-3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.