Defa40 defensin, alpha, 40 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Defa40provided by MGI
Official Full Name: defensin, alpha, 40provided by MGI
Primary source: MGI:MGI:3708769
See related: Ensembl:ENSMUSG00000074441 AllianceGenome:MGI:3708769
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: Gm15292
Summary: Predicted to enable pore-forming activity and protein homodimerization activity. Predicted to be involved in cellular response to lipopolysaccharide; defense response to other organism; and disruption of plasma membrane integrity in another organism. Predicted to be located in midbody and secretory granule. Predicted to be active in extracellular space. Orthologous to several human genes including DEFA1 (defensin alpha 1); DEFA1B (defensin alpha 1B); and DEFA5 (defensin alpha 5). [provided by Alliance of Genome Resources, Jan 2025]
Expression: Restricted expression toward large intestine adult (RPKM 47.8) 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 (21739731..21740569)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	8	NC_000074.6 (21249715..21250553)

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?

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General gene information

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Markers

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

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
involved_in defense response to Gram-negative bacterium	IBA Inferred from Biological aspect of Ancestor more info
involved_in defense response to Gram-positive bacterium	IBA Inferred from Biological aspect of Ancestor more info
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

Component	Evidence Code	Pubs
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
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: uncharacterized protein LOC100041787

Names: novel defensin-related cryptidin

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.

mRNA and Protein(s)

NM_001177487.2 → NP_001170958.1 uncharacterized protein LOC100041787 precursor

Status: VALIDATED

Source sequence(s)

AC129174

Consensus CDS

CCDS52507.1

UniProtKB/TrEMBL

L7N231

Related

ENSMUSP00000096494.3, ENSMUST00000098895.3

Conserved Domains (2) summary

pfam00323
Location:64 → 92

Defensin_1; Mammalian defensin

pfam00879
Location:16 → 51

Defensin_propep; Defensin propeptide