Homo sapiens Gene: DEFA3
Summary
InnateDB Gene IDBG-402318.3
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol DEFA3
Gene Name defensin, alpha 3, neutrophil-specific
Synonyms DEF1; DEF3; DEFA2; HNP-1; HNP-3; HNP3; HP-1; HP-3; HP1; HP3; MRS;
Species Homo sapiens
Ensembl Gene ENSG00000239839
Encoded Proteins
defensin, alpha 3, neutrophil-specific
defensin, alpha 3, neutrophil-specific
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Defensins are a family of microbicidal and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. The protein encoded by this gene, defensin, alpha 3, is found in the microbicidal granules of neutrophils and likely plays a role in phagocyte-mediated host defense. Several alpha defensin genes are clustered on chromosome 8. This gene differs from defensin, alpha 1 by only one amino acid. This gene and the gene encoding defensin, alpha 1 are both subject to copy number variation. [provided by RefSeq, May 2010] Defensins are a family of microbicidal and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. The protein encoded by this gene, defensin, alpha 1, is found in the microbicidal granules of neutrophils and likely plays a role in phagocyte-mediated host defense. Several alpha defensin genes are clustered on chromosome 8. This gene differs from defensin, alpha 3 by only one amino acid. This gene and the gene encoding defensin, alpha 3 are both subject to copy number variation. [provided by RefSeq, May 2010]
Defensins are a family of antimicrobial and cytotoxic peptides thought to be involved in host defense. They are abundant in the granules of neutrophils and also found in the epithelia of mucosal surfaces such as those of the intestine, respiratory tract, urinary tract, and vagina. Members of the defensin family are highly similar in protein sequence and distinguished by a conserved cysteine motif. The protein encoded by this gene, defensin, alpha 1, is found in the microbicidal granules of neutrophils and likely plays a role in phagocyte-mediated host defense. Several alpha defensin genes are clustered on chromosome 8. This gene differs from defensin, alpha 3 by only one amino acid. This gene and the gene encoding defensin, alpha 3 are both subject to copy number variation. [provided by RefSeq, Oct 2014]
Gene Information
Type Protein coding
Genomic Location Chromosome 8:6996837-7018301
Strand Reverse strand
Band p23.1
Transcripts
ENST00000327857 ENSP00000328359
ENST00000616150 ENSP00000484218
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.
Experimentally validated
Total 2 [view]
Protein-Protein 1 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0003674 molecular_function
Biological Process
GO:0002227 innate immune response in mucosa
GO:0006935 chemotaxis
GO:0006952 defense response
GO:0006955 immune response
GO:0019731 antibacterial humoral response
GO:0030520 intracellular estrogen receptor signaling pathway
GO:0031640 killing of cells of other organism
GO:0045087 innate immune response
GO:0050830 defense response to Gram-positive bacterium
GO:0050832 defense response to fungus
GO:0051607 defense response to virus
Cellular Component
GO:0005576 extracellular region
GO:0005615 extracellular space
GO:0005796 Golgi lumen
GO:0031012 extracellular matrix
GO:0035578 azurophil granule lumen
GO:0070062 extracellular vesicular exosome
Orthologs
No orthologs found for this gene
Pathways
NETPATH
REACTOME
Defensins pathway
Innate Immune System pathway
Alpha-defensins pathway
Immune System pathway
KEGG
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt P59666
TrEMBL Q6EZE9
UniProt Splice Variant
Entrez Gene 728358
UniGene
RefSeq NM_005217
HUGO HGNC:2762
OMIM 125220 604522
CCDS CCDS5962
HPRD
IMGT
EMBL AF200455 AF238378 BC027917 BC069423 BC093791 BC112188 BC119706 L12690 L12691 M21130 M21131 M23281 M26602 X13621 X52053
GenPept AAA35753 AAA36382 AAA52302 AAA52303 AAA52304 AAB57722 AAH27917 AAH69423 AAH93791 AAI12189 AAI19707 AAT68875 AAT68878 AAT68879 AAT68880 AAT68881 AAT68883 AAT68884 AAT68885 CAA31952 CAA36280
RNA Seq Atlas 1667 1668 728358