DEFA3 defensin alpha 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: DEFA3provided by HGNC
Official Full Name: defensin alpha 3provided by HGNC
Primary source: HGNC:HGNC:2762
See related: Ensembl:ENSG00000239839 MIM:604522; AllianceGenome:HGNC:2762
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HP3; DEF3; HNP3; HP-3; HNP-3
Summary: 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 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, Oct 2014]
Expression: Restricted expression toward bone marrow (RPKM 20860.0) See more
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Genomic context

Location:: 8p23.1

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	8	NC_000008.11 (7015869..7018297, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (6770536..6772968, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (6873391..6875819, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

lower DEFA1/DEFA3 copy number (CNV < 7) is associated with higher susceptibility to hospital-acquired infections (HAIs) in critically ill patients, indicating that host genetic factors are involved in the development of HAIs
Title: Low-Copy Number Polymorphism in DEFA1/DEFA3 Is Associated with Susceptibility to Hospital-Acquired Infections in Critically Ill Patients.
DEFA1, DEFA3, and PPBP expression was significantly increased in hyperlipidemia and coronary heart disease patients compared with controls.
Title: PPBP and DEFA1/DEFA3 genes in hyperlipidaemia as feasible synergistic inflammatory biomarkers for coronary heart disease.
these results demonstrate that HNPs1-3 may be potent inhibitors of ADAMTS13 activity, likely by binding to the central A2 domain of VWF and physically blocking ADAMTS13 binding.
Title: Human neutrophil peptides inhibit cleavage of von Willebrand factor by ADAMTS13: a potential link of inflammation to TTP.
High HNP3 expression is associated with IgA Nephropathy.
Title: Elevated Plasma α-Defensins (HNP1-3) Levels Correlated with IgA1 Glycosylation and Susceptibility to IgA Nephropathy.
The expression of alpha-defensins 1, 2 and 3 is up-regulated in hypercholesteremia.
Title: Upregulated expression of human alpha-defensins 1, 2 and 3 in hypercholesteremia and its relationship with serum lipid levels.
Elevated DEFA3 levels in diabetes are independent of DEFA3 copy numbers.
Title: Relevance of α-defensins (HNP1-3) and defensin β-1 in diabetes.
DEFA3 encodes an antibacterial peptide that is bacteriocidal against S. aureus, E. coli, and P. aeruginosa.
Title: Defensins. Natural peptide antibiotics of human neutrophils.
A decrease in salivary HNP 1-3 levels might be a biological factor for predisposition to oral ulcers in patients with Behcet disease and oral infection in healthy patients.
Title: Salivary levels of HNP 1-3 are related to oral ulcer activity in Behçet's disease.
Results indicate that the gene expression of DEFA 1/3 and 4 was significantly increased in all tumours - except for a significant decrease of DEFA 4 gene expression in pleomorphic adenomas.
Title: Human α-defensin (DEFA) gene expression helps to characterise benign and malignant salivary gland tumours.
This study suggests that HNPs 1-3 promote tumor invasion and are potential indicators of disease progression in patients with bladder cancer.
Title: Plasma human neutrophil proteins-1, -2, and -3 levels in patients with bladder cancer.

Submit: New GeneRIF Correction See all GeneRIFs (43)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Alpha-defensins inhibit the binding of HIV-1 gp120 to CD4 through interaction with the D1 domain of CD4	PubMed
	env	Human neutrophil alpha-defensin 4 (HNP4) is more effective than HNP1-3 in protecting human peripheral blood mononuclear cells from infection by both CXCR4- and CCR5-tropic HIV-1 strains, but HNP4 binds to both CD4 and gp120 weaker than does HNP1	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:486943

RH71432 (e-PCR)
- UniSTS:66423

PMC152639P3 (e-PCR)
- UniSTS:271236

STS-N54165 (e-PCR)
- UniSTS:51153

NoName (e-PCR)
- UniSTS:481504

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables molecular_function	ND No biological Data available more info
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in antibacterial humoral response	IBA Inferred from Biological aspect of Ancestor more info
involved_in antibacterial humoral response	IDA Inferred from Direct Assay more info	PubMed
involved_in antimicrobial humoral immune response mediated by antimicrobial peptide	IBA Inferred from Biological aspect of Ancestor more info
involved_in antimicrobial humoral immune response mediated by antimicrobial peptide	IC Inferred by Curator more info	PubMed
involved_in antimicrobial humoral immune response mediated by antimicrobial peptide	IDA Inferred from Direct Assay more info	PubMed
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 defense response to Gram-positive bacterium	IDA Inferred from Direct Assay more info	PubMed
involved_in defense response to fungus	IEA Inferred from Electronic Annotation more info
involved_in defense response to virus	IEA Inferred from Electronic Annotation more info
involved_in disruption of plasma membrane integrity in another organism	IBA Inferred from Biological aspect of Ancestor more info
involved_in estrogen receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in innate immune response in mucosa	IBA Inferred from Biological aspect of Ancestor more info
involved_in innate immune response in mucosa	IDA Inferred from Direct Assay more info	PubMed
involved_in killing of cells of another organism	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in Golgi lumen	TAS Traceable Author Statement more info
located_in azurophil granule lumen	TAS Traceable Author Statement more info
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
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

General protein information

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Preferred Names: neutrophil defensin 3

Names: defensin 3, neutrophil-specific; defensin, alpha 3, neutrophil-specific; neutrophil peptide 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.

mRNA and Protein(s)

NM_005217.4 → NP_005208.1 neutrophil defensin 3 preproprotein

See identical proteins and their annotated locations for NP_005208.1

Status: REVIEWED

Source sequence(s)

AF238378, BC027917, X13621

Consensus CDS

CCDS5962.1

UniProtKB/Swiss-Prot

P59666

UniProtKB/TrEMBL

Q6EZE9

Related

ENSP00000328359.2, ENST00000327857.7

Conserved Domains (2) summary

pfam00323
Location:66 → 94

Defensin_1; Mammalian defensin

pfam00879
Location:1 → 52

Defensin_propep; Defensin propeptide

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000008.11 Reference GRCh38.p14 Primary Assembly

Range

7015869..7018297 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011534741.3 → XP_011533043.1 neutrophil defensin 3 isoform X1

Conserved Domains (2) summary

pfam00323
Location:73 → 101

Defensin_1; Mammalian defensin

pfam00879
Location:8 → 59

Defensin_propep; Defensin propeptide