DEFA3 - defensin alpha 3 Gene

Homo sapiens

Also known as HP3; DEF3; HNP3; HP-3; HNP-3

Gene ID: 1668 | Gene type: protein coding

About DEFA3

Cytogenetic location: 8p23.1 Genomic coordinates (GRCh38): 8:7,015,869-7,018,297 (from NCBI)

This gene has 1 transcript (splice variant), 1 gene allele, 175 orthologues and 5 paralogues. Restricted expression toward bone marrow (RPKM 20860.0).

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]

DEFA3 Products(1)

mRNA	Protein	Name
NM_005217.4	NP_005208.1	neutrophil defensin 3 preproprotein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein homodimerization activity	IDA IDA: Inferred from direct assay	2006422	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in antibacterial humoral response	IDA IDA: Inferred from direct assay	12860195	GOA
involved in antimicrobial humoral immune response mediated by antimicrobial peptide	IDA IDA: Inferred from direct assay	12860195	GOA
involved in defense response to Gram-positive bacterium	IDA IDA: Inferred from direct assay	12860195	GOA
involved in estrogen receptor signaling pathway	IDA IDA: Inferred from direct assay	21861873	GOA
involved in innate immune response in mucosa	IDA IDA: Inferred from direct assay	12860195	GOA
involved in killing of cells of another organism	IDA IDA: Inferred from direct assay	15616305	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in extracellular space	IDA IDA: Inferred from direct assay	12860195	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DEFA3 Protein Structure

Defensin_propep

Defensin_1

0
94 a.a.

Protein Preferred Names

Protein Names

neutrophil defensin 3

defensin 3, neutrophil-specific

Recombinant DEFA3 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76870	DEFA3/Defensin alpha 3 Protein, Human (HEK293, Fc)	P59666 (D39-C94)	≥95%

Related Diseases

Diseases

Alias

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1

Eec Syndrome	Rudiger Syndrome 1
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome 1	EEC1
Eec Syndrome 1	Eec Syndrome-1
Walker-Clodius Syndrome	Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Eec	Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome
Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome	Ectrodactyly-Cleft Lip/Palate Syndrome
Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Cleft Palate	Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome
Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome	Ectrodactyly-Cleft Lip-Palate Syndrome
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome

Osteogenesis Imperfecta, Type Xvii

Osteogenesis Imperfecta Type 17	OI17
Osteogenesis Imperfecta Type Xvii	Osteogenesis Imperfecta 17

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03674	DEFA3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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